GALK1

Summary

GALK1 (galactokinase 1, HGNC:4118) is a protein-coding gene on chromosome 17q25.1, encoding Galactokinase (P51570). Catalyzes the transfer of a phosphate from ATP to alpha-D-galactose and participates in the first committed step in the catabolism of galactose.

Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population.

Source: NCBI Gene 2584 — RefSeq curated summary.

At a glance

• Gene–disease (curated): galactokinase deficiency (Definitive, ClinGen)
• GWAS associations: 2
• Clinical variants (ClinVar): 1,119 total — 59 pathogenic, 73 likely-pathogenic
• Phenotypes (HPO): 31
• Druggable target: yes — 6 molecules with ChEMBL bioactivity
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_000154

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4118
Approved symbol	GALK1
Name	galactokinase 1
Location	17q25.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000108479
Ensembl biotype	protein_coding
OMIM	604313
Entrez	2584

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 14 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000225614, ENST00000586244, ENST00000586733, ENST00000587707, ENST00000588479, ENST00000589030, ENST00000589643, ENST00000592494, ENST00000592997, ENST00000864468, ENST00000864469, ENST00000864470, ENST00000864471, ENST00000864472, ENST00000864473, ENST00000864474, ENST00000937573, ENST00000937574, ENST00000956674, ENST00000956675

RefSeq mRNA: 2 — MANE Select: NM_000154 NM_000154, NM_001381985

CCDS: CCDS11728

Canonical transcript exons

ENST00000588479 — 8 exons

Exon	Start	End
ENSE00000744741	75758210	75758372
ENSE00000744742	75758449	75758599
ENSE00000744745	75763014	75763149
ENSE00000744747	75763320	75763439
ENSE00001303886	75764972	75765192
ENSE00002926365	75757894	75758127
ENSE00003542217	75762704	75762885
ENSE00003624195	75763897	75764086

Expression profiles

Bgee: expression breadth ubiquitous, 174 present calls, max score 96.32.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.8260 / max 229.3342, expressed in 1808 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
168092	24.8260	1808

Top tissues by expression

295 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	96.32	gold quality
apex of heart	UBERON:0002098	90.42	gold quality
monocyte	CL:0000576	89.13	gold quality
granulocyte	CL:0000094	89.08	gold quality
tibial nerve	UBERON:0001323	88.83	gold quality
mononuclear cell	CL:0000842	88.77	gold quality
body of pancreas	UBERON:0001150	88.63	gold quality
leukocyte	CL:0000738	88.53	gold quality
stromal cell of endometrium	CL:0002255	87.94	gold quality
metanephros cortex	UBERON:0010533	87.33	gold quality
ectocervix	UBERON:0012249	87.17	gold quality
left uterine tube	UBERON:0001303	86.87	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.65	gold quality
right ovary	UBERON:0002118	86.64	gold quality
lower esophagus mucosa	UBERON:0035834	86.44	gold quality
endocervix	UBERON:0000458	86.17	gold quality
skin of leg	UBERON:0001511	86.10	gold quality
small intestine Peyer’s patch	UBERON:0003454	86.02	gold quality
skin of abdomen	UBERON:0001416	85.74	gold quality
descending thoracic aorta	UBERON:0002345	85.69	gold quality
body of uterus	UBERON:0009853	85.63	gold quality
body of stomach	UBERON:0001161	85.56	gold quality
right lung	UBERON:0002167	85.39	gold quality
upper lobe of left lung	UBERON:0008952	85.37	gold quality
spleen	UBERON:0002106	85.32	gold quality
ascending aorta	UBERON:0001496	85.22	gold quality
thoracic aorta	UBERON:0001515	85.21	gold quality
esophagus mucosa	UBERON:0002469	85.21	gold quality
left coronary artery	UBERON:0001626	84.96	gold quality
omental fat pad	UBERON:0010414	84.78	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.41

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): RELA, TBXT

miRNA regulators (miRDB)

6 targeting GALK1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3612	99.45	66.02	1333
HSA-MIR-650	99.45	65.77	1309
HSA-MIR-6871-3P	99.43	68.85	741
HSA-MIR-5582-5P	99.27	71.42	1879
HSA-MIR-4443	98.02	66.25	1928
HSA-MIR-6515-5P	97.08	65.48	1219

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 22)

• 2 new GALK1 mutations near the ATP-binding site were found in a homozygotic Turkish immigrant: S142I and G148C. (PMID:11978883)
• Has ordered ternary complex mechanism with ATP being the first substrate to bind. (PMID:12694189)
• a functional analysis of disease-causing mutations in this enzyme (PMID:12694189)
• In this northern Italian population age-related cataract does not appear to be associated with GALK1 alleles. (PMID:12942049)
• 2-deoxy-D-galactose is a substrate for this enzyme. D-glucose, D-fucose, L-arabinose and N-acetyl-D-galactosamine are not. Mutations H44A, H44I, E43G/H44I are insoluble, D46A is inactive, E43G has reduced activity and E43A has wild-type activity. (PMID:14596685)
• The disease-causing point mutations in the human enzyme are mapped onto the structure of the protein from Pyrococcus furiosus and speculations made about the structural consequences. (PMID:15003454)
• structure and function of galactokinase, and role in type II galactosemia [review] (PMID:15526155)
• Structure of the human enzyme complexed with MgAMP.PNP and galactose (PMID:15590630)
• active site geometry of this enzyme upon which to more fully understand the consequences of the those mutations known to give rise to Type II galactosemia. (PMID:15590630)
• Mutations in GALK1 resulted in reduction of GALK activity and caused GALK deficiency. (PMID:17517531)
• These results suggest that the elevated GALK1 activity resulted from enhanced gene expression, due to nucleotide variation within GALK1 promoter (PMID:19309526)
• Pathogenic mutations in GALK1 that are responsible for autosomal recessive congenital cataracts in consanguineous Pakistani families, are reported. (PMID:20405025)
• A possible mechanism for the unfolding caused by the Pro(28)Thr point mutation of human galactokinase. (PMID:21264483)
• The study highlighted the importance of GALK gene analysis in diagnosis of galactosemia in Indian population. (PMID:22632133)
• Data indicate taht the interactions between galactokinase (GALK) and its potential inhibitors by molecular dynamics simulations. (PMID:23517731)
• The GALK1 gene was included in this interval and direct sequencing. (PMID:24211322)
• Mutation in the GALK gene is associated with mental disorders in galactosemia. (PMID:28672748)
• Some of the single consensus variants (M60V, D268E, A334S and G373S) increased the catalytic turnover of the enzyme, but none resulted in improved stability. When all six changes were introduced into the protein (M60V/M180V/D268E/A334S/R366Q/G373S), thermal stability was increased. (PMID:29505688)
• Molecular docking analysis revealed a decrease in interaction between the protein and ATP in all the 3 mutations (P28T, A198V, and L139P), and molecular dynamic simulations of 50 ns showed a loss of stability and compactness in the mutant proteins. Also P28T and A198V were predicted to alter the structure and function of GALK protein when compared to the mutant L139P. (PMID:29893426)
• Focussing on four residues (Leu-231, Gln-242, Glu-244 and Glu-245) this study conducted molecular dynamics simulations to explore the effects of changing these residues to glycine or serine. The four serine variants were expressed as recombinant proteins. All had altered steady state enzyme kinetic parameters with alpha-d-galactose as a substrate. (PMID:30253338)
• Galactokinase deficiency: lessons from the GalNet registry. (PMID:32807972)
• Proteomics Profiling of Bladder Cancer Tissues from Early to Advanced Stages Reveals NNMT and GALK1 as Biomarkers for Early Detection and Prognosis of BCa. (PMID:37834386)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	galk1	ENSDARG00000028088
mus_musculus	Galk1	ENSMUSG00000020766
rattus_norvegicus	Galk1	ENSRNOG00000006359

Paralogs (2): MVK (ENSG00000110921), GALK2 (ENSG00000156958)

Protein

Protein identifiers

Galactokinase — P51570 (reviewed: P51570)

Alternative names: Galactose kinase

All UniProt accessions (5): P51570, K7EII7, K7ERJ9, K7ERN9, V9HWE7

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the transfer of a phosphate from ATP to alpha-D-galactose and participates in the first committed step in the catabolism of galactose.

Subunit / interactions. Homodimer.

Disease relevance. Galactosemia 2 (GALAC2) [MIM:230200] A form of galactosemia, an inborn error of galactose metabolism typically manifesting in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. GALAC2 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Pathway. Carbohydrate metabolism; galactose metabolism.

Similarity. Belongs to the GHMP kinase family. GalK subfamily.

RefSeq proteins (2): NP_000145, NP_001368914 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000705	Galactokinase	Family
IPR006203	GHMP_knse_ATP-bd_CS	Conserved_site
IPR006204	GHMP_kinase_N_dom	Domain
IPR006206	Mevalonate/galactokinase	Family
IPR013750	GHMP_kinase_C_dom	Domain
IPR014721	Ribsml_uS5_D2-typ_fold_subgr	Homologous_superfamily
IPR019539	GalKase_N	Domain
IPR019741	Galactokinase_CS	Conserved_site
IPR020568	Ribosomal_Su5_D2-typ_SF	Homologous_superfamily
IPR036554	GHMP_kinase_C_sf	Homologous_superfamily

Pfam: PF00288, PF08544, PF10509

Enzyme classification (BRENDA):

• EC 2.7.1.6 — galactokinase (BRENDA: 26 organisms, 91 substrates, 52 inhibitors, 217 Km, 155 kcat entries)

Substrate kinetics (BRENDA)

13 substrates with measured Km, best-characterized 13. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ATP	0.0024–34.5	100
ALPHA-D-GALACTOSE	0.078–3.278	38
D-GALACTOSE	0.091–37.23	37
2-DEOXY-D-GALACTOSE	0.3–29.21	12
D-GALACTOSAMINE	0.22–4.8	8
D-GLUCOSE	0.038–49.37	8
D-TALOSE	0.37–2.3	6
L-ALTROSE	6.04–6.28	2
2-AMINO-DEOXY-D-GALACTOSE	2.9	1
3-DEOXY-3–METHYL-D-GALACTOSE	6.4	1
6-DEOXY-D-GALACTOSE	4.9	1
N-ACETYL-D-GALACTOSAMINE	15.76	1
3-DEOXY-3-METHYL-D-GALACTOSE	—	0

Catalyzed reactions (Rhea), 1 shown:

• alpha-D-galactose + ATP = alpha-D-galactose 1-phosphate + ADP + H(+) (RHEA:13553)

UniProt features (62 total): strand 18, helix 15, sequence variant 14, binding site 10, chain 1, active site 1, site 1, modified residue 1, turn 1

Structure

Experimental structures (PDB)

20 structures.

PDB	Method	Resolution (Å)
6ZGX	X-RAY DIFFRACTION	1.86
6Q3W	X-RAY DIFFRACTION	1.96
6Q3X	X-RAY DIFFRACTION	2.1
7RCM	X-RAY DIFFRACTION	2.1
7S49	X-RAY DIFFRACTION	2.2
7S4C	X-RAY DIFFRACTION	2.2
6ZGV	X-RAY DIFFRACTION	2.3
6ZGW	X-RAY DIFFRACTION	2.3
6ZGY	X-RAY DIFFRACTION	2.3
6ZGZ	X-RAY DIFFRACTION	2.3
7OZX	X-RAY DIFFRACTION	2.3
6Q8Z	X-RAY DIFFRACTION	2.4
6Q90	X-RAY DIFFRACTION	2.4
6Q91	X-RAY DIFFRACTION	2.4
6QJE	X-RAY DIFFRACTION	2.4
7RCL	X-RAY DIFFRACTION	2.4
6ZFH	X-RAY DIFFRACTION	2.44
6GR2	X-RAY DIFFRACTION	2.49
1WUU	X-RAY DIFFRACTION	2.5
6ZH0	X-RAY DIFFRACTION	2.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P51570-F1	97.31	0.96

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (2): 186 (proton acceptor); 37 (transition state stabilizer)

Ligand- & substrate-binding residues (10): 186; 236; 37; 43; 44; 46; 136; 138; 140; 141

Post-translational modifications (1): 230

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-5609976	Defective GALK1 causes GALCT2
R-HSA-70370	Galactose catabolism

MSigDB gene sets: 259 (showing top): GOBP_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS, GNF2_GSTM1, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GOBP_POLYOL_METABOLIC_PROCESS, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, GOBP_MONOSACCHARIDE_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_PHOSPHORYLATION, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_UP, DARWICHE_PAPILLOMA_RISK_HIGH_UP, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP

GO Biological Process (5): galactose metabolic process (GO:0006012), galactitol metabolic process (GO:0019402), beta-D-galactose catabolic process via UDP-galactose, Leloir pathway (GO:0033499), glycolytic process from galactose (GO:0061623), carbohydrate phosphorylation (GO:0046835)

GO Molecular Function (8): galactokinase activity (GO:0004335), ATP binding (GO:0005524), galactose binding (GO:0005534), nucleotide binding (GO:0000166), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740), phosphotransferase activity, alcohol group as acceptor (GO:0016773)

GO Cellular Component (4): cytoplasm (GO:0005737), cytosol (GO:0005829), membrane (GO:0016020), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Diseases associated with glycosylation precursor biosynthesis	1
Metabolism of carbohydrates and carbohydrate derivatives	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
galactose catabolic process	2
transferase activity, transferring phosphorus-containing groups	2
hexose metabolic process	1
hexitol metabolic process	1
organophosphate metabolic process	1
carbohydrate derivative metabolic process	1
beta-D-galactose catabolic process via UDP-galactose, Leloir pathway	1
glycolytic process through glucose-1-phosphate	1
carbohydrate metabolic process	1
phosphorylation	1
phosphotransferase activity, alcohol group as acceptor	1
carbohydrate kinase activity	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
monosaccharide binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
catalytic activity	1
intracellular anatomical structure	1
cytoplasm	1
extracellular vesicle	1

Protein interactions and networks

STRING

2048 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GALK1	GALT	P07902	969
GALK1	GALE	Q14376	923
GALK1	TK1	P04183	870
GALK1	GALM	Q96C23	862
GALK1	TK2	O00142	844
GALK1	MVK	Q03426	826
GALK1	ADPGK	Q9BRR6	778
GALK1	CRYBA1	P05813	774
GALK1	NT5C	Q8TCD5	689
GALK1	UGP2	Q16851	684
GALK1	CRYGD	P07320	667
GALK1	AKR1B1	P15121	652
GALK1	XYLB	O75191	646
GALK1	CRYBB2	P43320	616
GALK1	UGDH	O60701	577

IntAct

75 interactions, top by confidence:

A	B	Type	Score
CD9	ADAM10	psi-mi:“MI:0914”(association)	0.750
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
SLC17A5	LGALS8	psi-mi:“MI:0914”(association)	0.640
PNRC2	GALK1	psi-mi:“MI:0915”(physical association)	0.560
GALK1	PNRC2	psi-mi:“MI:0915”(physical association)	0.560
GORASP1	PPP6R2	psi-mi:“MI:0914”(association)	0.530
rep	NKRF	psi-mi:“MI:0914”(association)	0.500
GALK1	SPATA13	psi-mi:“MI:0915”(physical association)	0.490
SPATA13	GALK1	psi-mi:“MI:0915”(physical association)	0.490
	TK2	psi-mi:“MI:0915”(physical association)	0.400
		psi-mi:“MI:0914”(association)	0.350
SPHK1	MYO1C	psi-mi:“MI:0914”(association)	0.350
PB1	HAX1	psi-mi:“MI:0914”(association)	0.350
PB2	SEC16A	psi-mi:“MI:0914”(association)	0.350
NS1	ESYT2	psi-mi:“MI:0914”(association)	0.350
PB2	CDIPT	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
DLD	NFKBIE	psi-mi:“MI:0914”(association)	0.350
DLD	IRS4	psi-mi:“MI:0914”(association)	0.350
Prdm16	ESYT2	psi-mi:“MI:0914”(association)	0.350
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350
BCL2L14		psi-mi:“MI:0914”(association)	0.350
GEM	APRT	psi-mi:“MI:0914”(association)	0.350

BioGRID (121): GALK1 (Affinity Capture-MS), GALK1 (Affinity Capture-MS), CKMT1B (Co-fractionation), CKMT1A (Co-fractionation), GALK1 (Co-fractionation), GALM (Co-fractionation), GALK1 (Proximity Label-MS), GALK1 (Affinity Capture-MS), GALK1 (Affinity Capture-MS), GALK1 (Affinity Capture-MS), GALK1 (Affinity Capture-MS), GALK1 (Affinity Capture-MS), GALK1 (Affinity Capture-MS), GALK1 (Affinity Capture-MS), SPATA13 (Two-hybrid)

ESM2 similar proteins: A0KQH8, A0L7X0, A4TNR8, A4W899, A5UZT4, A5UZT9, A5UZW2, A5UZX0, A6H768, A7FKP2, A7MIX5, A7NFR2, A7NI01, A7NI09, A7NI92, A7NI97, A8GBA5, A9R3B5, A9WB97, A9WGQ8, B0U3B8, B1JST8, B1YIH8, B2I5Y6, B2I7L2, B2K8R6, B2VBV2, B4SZH7, B4TC28, B8G6Y3, B8GCS2, B9LBK4, B9LFE4, C0PWW2, P22713, P51570, Q1C960, Q1CFP0, Q3J7Y0, Q57RI3

Diamond homologs: A0KQH8, A1A900, A1JRX5, A3N103, A4TNR8, A4VT88, A4W899, A5UDQ5, A5UHX0, A5UZX0, A6H768, A6M1P8, A6VQK2, A7FKP2, A7MIX5, A7MV01, A7NI09, A7ZJD2, A7ZY13, A8AJ37, A8GBA5, A9MJI2, A9MTL0, A9R3B5, A9WB97, B0BPT5, B1IXX9, B1JST8, B1LM48, B1YIH8, B2K8R6, B2TUY8, B2VBV2, B3H1M3, B4F0A6, B4SZH7, B4TC28, B4TQR9, B5BC50, B5ETC9

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
GALK1	“down-regulates quantity”	alpha-D-galactose	“chemical modification”
GALK1	“up-regulates quantity”	“alpha-D-galactose 1-phosphate”	“chemical modification”

Disease & clinical

Clinical variants and AI predictions

ClinVar

1119 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	59
Likely pathogenic	73
Uncertain significance	299
Likely benign	526
Benign	42

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1076192	NM_000154.2(GALK1):c.67G>T (p.Glu23Ter)	Pathogenic
1368188	NM_000154.2(GALK1):c.1059del (p.Thr354fs)	Pathogenic
1371115	NM_000154.2(GALK1):c.162dup (p.Met55fs)	Pathogenic
1380137	NM_000154.2(GALK1):c.1107+1G>A	Pathogenic
1451771	NM_000154.2(GALK1):c.6del (p.Ala3fs)	Pathogenic
1456032	NM_000154.2(GALK1):c.768_769dup (p.Glu257fs)	Pathogenic
1457164	NC_000017.10:g.(?73754127)(73761239_?)del	Pathogenic
1460428	NC_000017.10:g.(?73753076)(73754632_?)del	Pathogenic
14731	NM_000213.5(ITGB4):c.4620del (p.Thr1542fs)	Pathogenic
14737	NM_000213.5(ITGB4):c.4643G>A (p.Trp1548Ter)	Pathogenic
14739	NM_000213.5(ITGB4):c.3977-19T>A	Pathogenic
14741	NM_000213.5(ITGB4):c.4574_4575del (p.Ala1525fs)	Pathogenic
1943313	NM_000154.2(GALK1):c.609dup (p.Arg204fs)	Pathogenic
2110748	NM_000154.2(GALK1):c.837_841dup (p.Val281fs)	Pathogenic
2422482	NC_000017.10:g.(?73759968)(73761239_?)del	Pathogenic
2422483	NC_000017.10:g.(?73758775)(73761239_?)del	Pathogenic
2422484	NC_000017.10:g.(?73754127)(73754690_?)del	Pathogenic
2697749	NM_000154.2(GALK1):c.900_902del (p.Tyr300_Arg301delinsTer)	Pathogenic
2704911	NM_000154.2(GALK1):c.868C>T (p.Gln290Ter)	Pathogenic
2724583	NM_000154.2(GALK1):c.1A>G (p.Met1Val)	Pathogenic
2736650	NM_000213.5(ITGB4):c.3903dup (p.Asn1302fs)	Pathogenic
2736652	NM_000213.5(ITGB4):c.4632_4633del (p.Arg1545fs)	Pathogenic
2736653	NM_000213.5(ITGB4):c.4828C>T (p.Arg1610Ter)	Pathogenic
2736655	NM_000154.2(GALK1):c.416T>C (p.Leu139Pro)	Pathogenic
2760551	NM_000154.2(GALK1):c.953_954del (p.Asp317_Tyr318insTer)	Pathogenic
2766642	NM_000213.5(ITGB4):c.4563_4564del (p.Arg1522fs)	Pathogenic
2768657	NM_000154.2(GALK1):c.83_84dup (p.Glu29fs)	Pathogenic
2769093	NM_000213.5(ITGB4):c.4484_4487del (p.Leu1495fs)	Pathogenic
2770258	NM_000213.5(ITGB4):c.4964_4968dup (p.Leu1657fs)	Pathogenic
2776049	NM_000213.5(ITGB4):c.4908_4912del (p.Thr1637fs)	Pathogenic

SpliceAI

3249 predictions. Top by Δscore:

Variant	Effect	Δscore
17:75752166:T:A	acceptor_gain	1.0000
17:75752170:CCA:C	acceptor_loss	1.0000
17:75752171:CA:C	acceptor_loss	1.0000
17:75752172:A:AG	acceptor_gain	1.0000
17:75752172:A:T	acceptor_loss	1.0000
17:75752172:AG:A	acceptor_gain	1.0000
17:75752173:G:GC	acceptor_gain	1.0000
17:75752173:GG:G	acceptor_gain	1.0000
17:75752173:GGA:G	acceptor_gain	1.0000
17:75752173:GGAC:G	acceptor_gain	1.0000
17:75752173:GGACC:G	acceptor_gain	1.0000
17:75752352:GTCCA:G	donor_gain	1.0000
17:75752357:G:GG	donor_gain	1.0000
17:75752444:A:AG	acceptor_gain	1.0000
17:75752445:G:GC	acceptor_gain	1.0000
17:75752445:GTC:G	acceptor_gain	1.0000
17:75752445:GTCC:G	acceptor_gain	1.0000
17:75752445:GTCCC:G	acceptor_gain	1.0000
17:75752575:CTG:C	donor_gain	1.0000
17:75752575:CTGG:C	donor_loss	1.0000
17:75752576:TG:T	donor_gain	1.0000
17:75752577:GG:G	donor_gain	1.0000
17:75752577:GGTG:G	donor_loss	1.0000
17:75752578:G:GG	donor_gain	1.0000
17:75752578:GT:G	donor_loss	1.0000
17:75752579:T:A	donor_loss	1.0000
17:75754571:TGCA:T	acceptor_loss	1.0000
17:75754571:TGCAG:T	acceptor_gain	1.0000
17:75754573:CAG:C	acceptor_gain	1.0000
17:75754573:CAGA:C	acceptor_loss	1.0000

AlphaMissense

2489 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:75758273:G:C	F348L	0.998
17:75758273:G:T	F348L	0.998
17:75758275:A:G	F348L	0.998
17:75763067:G:C	D186E	0.998
17:75763067:G:T	D186E	0.998
17:75763068:T:A	D186V	0.998
17:75763068:T:G	D186A	0.998
17:75765020:G:C	N39K	0.998
17:75765020:G:T	N39K	0.998
17:75758354:G:C	S321R	0.997
17:75758354:G:T	S321R	0.997
17:75758356:T:G	S321R	0.997
17:75763936:A:G	W106R	0.997
17:75763936:A:T	W106R	0.997
17:75762790:T:C	Y236C	0.996
17:75763069:C:G	D186H	0.996
17:75763115:A:C	C170W	0.996
17:75763934:C:A	W106C	0.996
17:75763934:C:G	W106C	0.996
17:75758463:G:C	S310R	0.995
17:75758463:G:T	S310R	0.995
17:75758465:T:G	S310R	0.995
17:75762791:A:G	Y236H	0.995
17:75763068:T:C	D186G	0.995
17:75765012:C:A	G42V	0.995
17:75765012:C:T	G42E	0.995
17:75758294:G:C	S341R	0.994
17:75758294:G:T	S341R	0.994
17:75758296:T:G	S341R	0.994
17:75763116:C:T	C170Y	0.994

dbSNP variants (sampled 300 via entrez): RS1000137556 (17:75756273 A>C), RS1000199460 (17:75765293 G>T), RS1000796415 (17:75763787 C>G), RS1001013223 (17:75765405 A>G), RS1001110242 (17:75753321 G>C), RS1001190932 (17:75764865 C>G,T), RS1001223598 (17:75765100 G>A,T), RS1001237234 (17:75764774 G>A), RS1001357299 (17:75761609 T>C), RS1001464209 (17:75754005 G>A,T), RS1001829046 (17:75755408 G>A), RS1002332117 (17:75752643 G>A,C), RS1002957055 (17:75752803 G>A,C), RS1003338696 (17:75751377 C>A), RS1003512759 (17:75763334 T>A)

Disease associations

OMIM: gene MIM:604313 | disease phenotypes: MIM:230200, MIM:226730, MIM:619816, MIM:131800, MIM:226650

GenCC curated gene-disease

Disease	Classification	Inheritance
galactokinase deficiency	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
galactokinase deficiency	Definitive	AR

Mondo (6): galactokinase deficiency (MONDO:0009255), junctional epidermolysis bullosa with pyloric atresia (MONDO:0009183), epidermolysis bullosa, junctional 5A, intermediate (MONDO:0030768), epidermolysis bullosa simplex 1C, localized (MONDO:0007551), junctional epidermolysis bullosa, non-Herlitz type (MONDO:0009180), junctional epidermolysis bullosa (MONDO:0017612)

Orphanet (9): Galactosemia (Orphanet:352), Galactokinase deficiency (Orphanet:79237), Junctional epidermolysis bullosa with pyloric atresia (Orphanet:79403), Localized junctional epidermolysis bullosa (Orphanet:251393), Localized epidermolysis bullosa simplex (Orphanet:79400), Intermediate generalized junctional epidermolysis bullosa (Orphanet:79402), Junctional epidermolysis bullosa inversa (Orphanet:79405), OBSOLETE: Junctional epidermolysis bullosa, non-Herlitz type (Orphanet:89840), Junctional epidermolysis bullosa (Orphanet:305)

HPO phenotypes

31 total (30 of 31 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000252	Microcephaly
HP:0000407	Sensorineural hearing impairment
HP:0000518	Cataract
HP:0000815	Hypergonadotropic hypogonadism
HP:0000842	Hyperinsulinemia
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001270	Motor delay
HP:0001433	Hepatosplenomegaly
HP:0001508	Failure to thrive
HP:0001518	Small for gestational age
HP:0001622	Premature birth
HP:0001943	Hypoglycemia
HP:0002240	Hepatomegaly
HP:0002361	Psychomotor deterioration
HP:0002516	Increased intracranial pressure
HP:0003124	Hypercholesterolemia
HP:0004431	Reduced circulating complement concentration
HP:0006579	Prolonged neonatal jaundice
HP:0008209	Premature ovarian insufficiency
HP:0011098	Speech apraxia
HP:0011968	Feeding difficulties
HP:0012023	Galactosuria
HP:0012024	Hypergalactosemia
HP:0012379	Abnormal circulating enzyme concentration or activity
HP:0012768	Neonatal asphyxia
HP:0100018	Nuclear cataract
HP:0410061	Increased level of galactitol in plasma
HP:0410062	Increased level of galactitol in urine

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST90002407_150	White blood cell count	8.000000e-10
GCST90011898_83	Alanine aminotransferase levels	2.000000e-11

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D016109	Epidermolysis Bullosa, Junctional	C16.131.831.493.170; C16.320.850.275.170; C17.800.804.493.170; C17.800.827.275.170; C17.800.865.410.170
C535377	Epidermolysis bullosa with pyloric atresia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL1293257 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

6 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 187,496 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1599768	PYRANTEL PAMOATE	4	5,940
CHEMBL496	HEXACHLOROPHENE	4	26,164
CHEMBL50	QUERCETIN	3	74,559
CHEMBL51483	GOSSYPOL	3	13,973
CHEMBL11417	STREPTONIGRIN	2	43,337
CHEMBL151	LUTEOLIN	2	23,523

PharmGKB: 1 entry (VIP=true, CPIC=false)

Binding affinities (BindingDB)

88 measured of 88 human assays (88 total across all organisms); most potent 50 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value	Patent
2-(1,3-benzoxazol-2-ylamino)-4-(3-bromo-2-pyridinyl)-4,6,7,8-tetrahydro-1H-quinazolin-5-one	IC50	651 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-(2-bromophenyl)-4,6,7,8-tetrahydro-1H-quinazolin-5-one	IC50	749 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)spiro[1,6,7,8-tetrahydroquinazoline-4,4’-thiane]-5-one	IC50	1060 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-(2-iodophenyl)-4,6,7,8-tetrahydro-1H-quinazolin-5-one	IC50	1160 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-(3-bromo-4-pyridinyl)-4,6,7,8-tetrahydro-1H-quinazolin-5-one	IC50	1460 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-(2-chlorophenyl)-4,6,7,8-tetrahydro-1H-quinazolin-5-one	IC50	2660 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)spiro[1,6,7,8-tetrahydroquinazoline-4,3’-thiolane]-5-one	IC50	2660 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-(4-bromo-1H-pyrazol-5-yl)-4,6,7,8-tetrahydro-1H-quinazolin-5-one	IC50	2910 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-(4-bromo-1-methylpyrazol-3-yl)-4,6,7,8-tetrahydro-1H-quinazolin-5-one	IC50	2910 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-(4-chloro-1H-pyrazol-5-yl)-4,6,7,8-tetrahydro-1H-quinazolin-5-one	IC50	2910 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-(2-bromophenyl)-N-(2-chlorophenyl)-6-methyl-1,4-dihydropyrimidine-5-carboxamide	IC50	3260 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-(2-bromophenyl)-N-(4-methoxyphenyl)-6-methyl-1,4-dihydropyrimidine-5-carboxamide	IC50	3260 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-(2-bromophenyl)-6-methyl-N-(1,3,4-thiadiazol-2-yl)-1,4-dihydropyrimidine-5-carboxamide	IC50	3260 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
7-(1,3-benzoxazol-2-ylamino)-9-methyl-N-(1,3,4-thiadiazol-2-yl)-6,8-diazaspiro[4.5]deca-6,9-diene-10-carboxamide	IC50	3260 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-(2-bromophenyl)-N-(2-methoxyphenyl)-6-methyl-1,4-dihydropyrimidine-5-carboxamide	IC50	3660 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-(4-chloro-1-methylpyrazol-3-yl)-6-methyl-N-(5-phenyl-1,3,4-thiadiazol-2-yl)-1,4-dihydropyrimidine-5-carboxamide	IC50	3660 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-(2-bromophenyl)-6-methyl-N-(4-methylphenyl)-1,4-dihydropyrimidine-5-carboxamide	IC50	4110 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-(2-bromophenyl)-6-methyl-N-(1,3-thiazol-2-yl)-1,4-dihydropyrimidine-5-carboxamide	IC50	4110 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)spiro[1,6,7,8-tetrahydroquinazoline-4,1’-cyclopentane]-5-one	IC50	4210 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-(2-bromophenyl)-6-methyl-N-(2-methylphenyl)-1,4-dihydropyrimidine-5-carboxamide	IC50	4610 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-7,7-dimethylspiro[6,8-dihydro-1H-quinazoline-4,1’-cyclohexane]-5-one	IC50	5170 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-(2-bromophenyl)-N-(4-chlorophenyl)-6-methyl-1,4-dihydropyrimidine-5-carboxamide	IC50	5170 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-(4-chloro-1-methylpyrazol-3-yl)-6-methyl-N-(1,3,4-thiadiazol-2-yl)-1,4-dihydropyrimidine-5-carboxamide	IC50	5170 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-(4-chloropyrazolidin-3-yl)-6-methyl-N-(5-phenyl-1,3,4-thiadiazol-2-yl)-1,4-dihydropyrimidine-5-carboxamide	IC50	5170 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-(2-bromophenyl)-6-methyl-N-(1,2-oxazol-3-yl)-1,4-dihydropyrimidine-5-carboxamide	IC50	5800 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-[(5-methyl-1,3-benzoxazol-2-yl)amino]spiro[1,6,7,8-tetrahydroquinazoline-4,1’-cyclopentane]-5-one	IC50	5950 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-N-benzyl-4-(2-bromophenyl)-6-methyl-1,4-dihydropyrimidine-5-carboxamide	IC50	6510 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
7-(1,3-benzoxazol-2-ylamino)-9-methyl-N-(1,2-oxazol-3-yl)-6,8-diazaspiro[4.5]deca-6,9-diene-10-carboxamide	IC50	6510 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-7,7-dimethylspiro[6,8-dihydro-1H-quinazoline-4,1’-cyclopentane]-5-one	IC50	6680 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-[(5-chloro-1,3-benzoxazol-2-yl)amino]spiro[1,6,7,8-tetrahydroquinazoline-4,1’-cyclopentane]-5-one	IC50	6680 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-[3-(trifluoromethyl)-2-pyridinyl]-4,6,7,8-tetrahydro-1H-quinazolin-5-one	IC50	6680 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-[4-(trifluoromethyl)-3-pyridinyl]-4,6,7,8-tetrahydro-1H-quinazolin-5-one	IC50	6680 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-1’,1’-dioxospiro[1,6,7,8-tetrahydroquinazoline-4,3’-thiolane]-5-one	IC50	6680 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-[(5-bromo-1,3-benzoxazol-2-yl)amino]spiro[1,6,7,8-tetrahydroquinazoline-4,1’-cyclopentane]-5-one	IC50	7490 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-(4-chloro-1-methylpyrazol-3-yl)-6-methyl-N-(1,2-oxazol-3-yl)-1,4-dihydropyrimidine-5-carboxamide	IC50	8190 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)spiro[1,6,7,8-tetrahydroquinazoline-4,4’-oxane]-5-one	IC50	8410 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-(3-methylthiophen-2-yl)-4,6,7,8-tetrahydro-1H-quinazolin-5-one	IC50	9190 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-(2-bromophenyl)-N-cyclohexyl-6-methyl-1,4-dihydropyrimidine-5-carboxamide	IC50	9190 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-(2-bromophenyl)-6-methyl-N-phenyl-1,4-dihydropyrimidine-5-carboxamide	IC50	9190 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
N-(1,3-benzothiazol-2-yl)-2-(1,3-benzoxazol-2-ylamino)-4-(4-chloro-1-methylpyrazol-3-yl)-6-methyl-1,4-dihydropyrimidine-5-carboxamide	IC50	9190 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-(2-chlorophenyl)-1,4,6,7-tetrahydrocyclopenta[d]pyrimidin-5-one	IC50	9430 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-(2-bromophenyl)-N,6-dimethyl-N-(2-methylphenyl)-1,4-dihydropyrimidine-5-carboxamide	IC50	10300 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
N-(1,3-benzothiazol-2-yl)-2-(1,3-benzoxazol-2-ylamino)-4-(4-chloropyrazolidin-3-yl)-6-methyl-1,4-dihydropyrimidine-5-carboxamide	IC50	11600 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-3’-methylspiro[1,6,7,8-tetrahydroquinazoline-4,1’-cyclopentane]-5-one	IC50	11900 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-[2-(trifluoromethyl)phenyl]-4,6,7,8-tetrahydro-1H-quinazolin-5-one	IC50	12200 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-(2,6-dichlorophenyl)-4,6,7,8-tetrahydro-1H-quinazolin-5-one	IC50	13000 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)spiro[6,7-dihydro-1H-cyclopenta[d]pyrimidine-4,1’-cyclopentane]-5-one	IC50	13300 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-(2-bromo-3-pyridinyl)-4,6,7,8-tetrahydro-1H-quinazolin-5-one	IC50	14600 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-4-(1H-pyrazol-5-yl)-4,6,7,8-tetrahydro-1H-quinazolin-5-one	IC50	14600 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders
2-(1,3-benzoxazol-2-ylamino)-7-phenylspiro[1,6,7,8-tetrahydroquinazoline-4,1’-cyclopentane]-5-one	IC50	14900 nM	US-9447087: Galactokinase inhibitors for the treatment and prevention of associated diseases and disorders

ChEMBL bioactivities

458 potent at pChembl≥5 of 751 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.32	IC50	48	nM	CHEMBL5088290
7.32	IC50	48	nM	CHEMBL5073602
7.31	IC50	48.98	nM	CHEMBL5073602
7.30	IC50	50	nM	CHEMBL5092879
7.30	IC50	50	nM	CHEMBL5073602
7.30	IC50	50	nM	CHEMBL5088290
7.30	IC50	50.12	nM	CHEMBL5088290
7.17	IC50	68	nM	CHEMBL5087686
7.16	IC50	70	nM	CHEMBL5087686
7.15	IC50	70.79	nM	CHEMBL5087686
7.07	IC50	86	nM	CHEMBL5078070
7.05	IC50	90	nM	CHEMBL5078166
6.96	IC50	110	nM	CHEMBL5089409
6.96	IC50	110	nM	CHEMBL5092268
6.95	IC50	112.2	nM	CHEMBL5089409
6.93	IC50	117.5	nM	CHEMBL5072646
6.92	IC50	120	nM	CHEMBL5072646
6.92	IC50	120	nM	CHEMBL5092901
6.92	IC50	120.2	nM	CHEMBL5075869
6.89	IC50	130	nM	CHEMBL5075869
6.85	IC50	140	nM	CHEMBL5086925
6.82	IC50	150	nM	CHEMBL5082388
6.82	IC50	150	nM	CHEMBL5078058
6.77	IC50	170	nM	CHEMBL5077147
6.76	IC50	173.8	nM	CHEMBL5077147
6.72	IC50	190	nM	CHEMBL5094940
6.72	IC50	190	nM	CHEMBL5086508
6.68	IC50	208.9	nM	CHEMBL5087173
6.68	Potency	211.1	nM	CHEMBL555689
6.66	IC50	220	nM	CHEMBL5094206
6.66	IC50	220	nM	CHEMBL5087173
6.66	IC50	220	nM	CHEMBL5080517
6.63	IC50	234.4	nM	CHEMBL5094206
6.62	IC50	240	nM	CHEMBL5092284
6.60	IC50	250	nM	CHEMBL5077548
6.57	IC50	270	nM	CHEMBL5080286
6.47	IC50	340	nM	CHEMBL5081118
6.46	IC50	346.7	nM	CHEMBL5081118
6.41	IC50	390	nM	CHEMBL5090335
6.41	IC50	390	nM	CHEMBL5091242
6.41	IC50	390	nM	CHEMBL5080865
6.41	IC50	389.1	nM	CHEMBL5090335
6.37	IC50	430	nM	CHEMBL5088230
6.37	IC50	430	nM	CHEMBL5085360
6.37	IC50	430	nM	CHEMBL5080203
6.35	IC50	446.7	nM	CHEMBL5088230
6.35	IC50	446.7	nM	CHEMBL5085360
6.32	IC50	480	nM	CHEMBL5079108
6.31	IC50	490	nM	CHEMBL5082061
6.27	IC50	540	nM	CHEMBL5091860

PubChem BioAssay actives

130 with measured affinity, of 177 total; 50 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
2-[(7-amino-6-fluoro-1,3-benzoxazol-2-yl)amino]-4-(2-chloro-4-methylphenyl)-6-methyl-N-[(1-methylpyrazol-4-yl)methyl]-1,4-dihydropyrimidine-5-carboxamide	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	0.0480	uM
2-[(7-amino-6-fluoro-1,3-benzoxazol-2-yl)amino]-4-(2-chloro-4-methylphenyl)-N-[(1-ethylpyrazol-4-yl)methyl]-6-methyl-1,4-dihydropyrimidine-5-carboxamide	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	0.0480	uM
(4R)-2-[(7-amino-6-fluoro-1,3-benzoxazol-2-yl)amino]-4-(2-chloro-4-methylphenyl)-N-[(1-ethylpyrazol-4-yl)methyl]-6-methyl-1,4-dihydropyrimidine-5-carboxamide	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	0.0680	uM
2-[[4-[2-chloro-4-(2-methylpyrimidin-5-yl)phenyl]-2-[(6-fluoro-1,3-benzoxazol-2-yl)amino]-6-methyl-1,4-dihydropyrimidine-5-carbonyl]amino]pyridine-4-carboxylic acid	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	0.1100	uM
2-[[4-(2-chloro-4-imidazol-1-ylphenyl)-2-[(6-fluoro-1,3-benzoxazol-2-yl)amino]-6-methyl-1,4-dihydropyrimidine-5-carbonyl]amino]pyridine-4-carboxylic acid	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	0.1175	uM
(4R)-2-[(7-amino-1,3-benzoxazol-2-yl)amino]-4-(2-chloro-4-methylphenyl)-6-methyl-N-[(1-methylpyrazol-4-yl)methyl]-1,4-dihydropyrimidine-5-carboxamide	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	0.1202	uM
2-[(7-amino-1,3-benzoxazol-2-yl)amino]-4-(2-chloro-4-methylphenyl)-N-[(1-ethylpyrazol-4-yl)methyl]-6-methyl-1,4-dihydropyrimidine-5-carboxamide	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	0.1700	uM
2-[(7-amino-1,3-benzoxazol-2-yl)amino]-4-(2-chloro-4-methylphenyl)-6-methyl-N-[(1-methylpyrazol-4-yl)methyl]-1,4-dihydropyrimidine-5-carboxamide	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	0.2089	uM
2-[[2-[(7-amino-1,3-benzoxazol-2-yl)amino]-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyrimidine-5-carbonyl]amino]pyridine-4-carboxylic acid	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	0.2200	uM
2-[[4-[2-chloro-4-(6-methyl-3-pyridinyl)phenyl]-2-[(6-fluoro-1,3-benzoxazol-2-yl)amino]-6-methyl-1,4-dihydropyrimidine-5-carbonyl]amino]pyridine-4-carboxylic acid	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	0.3400	uM
2-[[4-(2-chloro-4-methylphenyl)-2-[(6-fluoro-1,3-benzoxazol-2-yl)amino]-6-methyl-1,4-dihydropyrimidine-5-carbonyl]amino]pyridine-4-carboxylic acid	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	0.3891	uM
2-[[4-(2-chloro-4-morpholin-4-ylphenyl)-2-[(6-fluoro-1,3-benzoxazol-2-yl)amino]-6-methyl-1,4-dihydropyrimidine-5-carbonyl]amino]pyridine-4-carboxylic acid	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	0.4300	uM
2-[[4-(2-chloro-4-methoxyphenyl)-2-[(6-fluoro-1,3-benzoxazol-2-yl)amino]-6-methyl-1,4-dihydropyrimidine-5-carbonyl]amino]pyridine-4-carboxylic acid	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	0.4300	uM
2-[[4-(2-bromophenyl)-2-[(6-fluoro-1,3-benzoxazol-2-yl)amino]-6-methyl-1,4-dihydropyrimidine-5-carbonyl]amino]pyridine-4-carboxylic acid	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	0.5400	uM
2-[[4-(2-chlorophenyl)-2-[(6-fluoro-1,3-benzoxazol-2-yl)amino]-6-methyl-1,4-dihydropyrimidine-5-carbonyl]amino]pyridine-4-carboxylic acid	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	0.6310	uM
6-benzylsulfanyl-2-(2,5-dihydroxyphenyl)-4-oxo-2,3-dihydro-1,3-thiazine-5-carbonitrile	656784: Inhibition of human galactosidase after 30 mins by Kinase-GloTM assay	ic50	0.7000	uM
2-[[4-(2-chloro-4-pyrazol-1-ylphenyl)-2-[(6-fluoro-1,3-benzoxazol-2-yl)amino]-6-methyl-1,4-dihydropyrimidine-5-carbonyl]amino]pyridine-4-carboxylic acid	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	0.7700	uM
2-[[4-(2-chloro-4-fluorophenyl)-2-[(6-fluoro-1,3-benzoxazol-2-yl)amino]-6-methyl-1,4-dihydropyrimidine-5-carbonyl]amino]pyridine-4-carboxylic acid	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	0.8600	uM
2-(2,5-dihydroxyphenyl)-6-[(3-morpholin-4-ylphenyl)methylsulfanyl]-4-oxo-2,3-dihydro-1,3-thiazine-5-carbonitrile	656784: Inhibition of human galactosidase after 30 mins by Kinase-GloTM assay	ic50	0.9000	uM
2-[[4-(2-chlorophenyl)-6-methyl-2-[(7-methyl-1,3-benzoxazol-2-yl)amino]-1,4-dihydropyrimidine-5-carbonyl]amino]pyridine-4-carboxylic acid	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	0.9333	uM
2-[[4-(2,4-dichlorophenyl)-2-[(6-fluoro-1,3-benzoxazol-2-yl)amino]-6-methyl-1,4-dihydropyrimidine-5-carbonyl]amino]pyridine-4-carboxylic acid	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	1.0471	uM
2-(1,3-benzoxazol-2-ylamino)-4-(2-chlorophenyl)-6-methyl-N-[(1-methylimidazol-4-yl)methyl]-1,4-dihydropyrimidine-5-carboxamide	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	1.0471	uM
2-[[2-(1,3-benzoxazol-2-ylamino)-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyrimidine-5-carbonyl]amino]pyridine-4-carboxylic acid	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	1.0800	uM
2-[[4-(2-chloro-4-pyrrolidin-1-ylphenyl)-2-[(6-fluoro-1,3-benzoxazol-2-yl)amino]-6-methyl-1,4-dihydropyrimidine-5-carbonyl]amino]pyridine-4-carboxylic acid	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	1.0900	uM
2-(3,4-dihydroxyphenyl)-6-[(3-morpholin-4-ylphenyl)methylsulfanyl]-4-oxo-2,3-dihydro-1,3-thiazine-5-carbonitrile	656784: Inhibition of human galactosidase after 30 mins by Kinase-GloTM assay	ic50	1.2000	uM
6-benzylsulfanyl-2-(2,4-dihydroxyphenyl)-4-oxo-2,3-dihydro-1,3-thiazine-5-carbonitrile	656784: Inhibition of human galactosidase after 30 mins by Kinase-GloTM assay	ic50	1.2000	uM
2-[[4-(2-chloro-4-piperidin-1-ylphenyl)-2-[(6-fluoro-1,3-benzoxazol-2-yl)amino]-6-methyl-1,4-dihydropyrimidine-5-carbonyl]amino]pyridine-4-carboxylic acid	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	1.2200	uM
2-[[4-(2-chlorophenyl)-6-methyl-2-[(5-methyl-1,3-benzoxazol-2-yl)amino]-1,4-dihydropyrimidine-5-carbonyl]amino]pyridine-4-carboxylic acid	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	1.3700	uM
2-(1,3-benzoxazol-2-ylamino)-4-(2-chlorophenyl)-6-methyl-N-[(1-methylpyrazol-4-yl)methyl]-1,4-dihydropyrimidine-5-carboxamide	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	1.3700	uM
6-benzylsulfanyl-2-(3,4-dihydroxyphenyl)-4-oxo-2,3-dihydro-1,3-thiazine-5-carbonitrile	656784: Inhibition of human galactosidase after 30 mins by Kinase-GloTM assay	ic50	1.4000	uM
(4S)-2-[(7-amino-6-fluoro-1,3-benzoxazol-2-yl)amino]-4-(2-chloro-4-methylphenyl)-N-[(1-ethylpyrazol-4-yl)methyl]-6-methyl-1,4-dihydropyrimidine-5-carboxamide	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	1.4791	uM
4-[[2-(1,3-benzoxazol-2-ylamino)-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyrimidine-5-carbonyl]amino]benzoic acid	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	1.5300	uM
2-(1,3-benzoxazol-2-ylamino)-4-(2-chlorophenyl)-6-methyl-N-[(3-methylimidazol-4-yl)methyl]-1,4-dihydropyrimidine-5-carboxamide	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	1.5849	uM
2-[[4-(2-chlorophenyl)-2-[(7-fluoro-1,3-benzoxazol-2-yl)amino]-6-methyl-1,4-dihydropyrimidine-5-carbonyl]amino]pyridine-4-carboxylic acid	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	1.7200	uM
6-benzylsulfanyl-2-(4-hydroxyphenyl)-4-oxo-2,3-dihydro-1,3-thiazine-5-carbonitrile	656784: Inhibition of human galactosidase after 30 mins by Kinase-GloTM assay	ic50	1.8000	uM
2-[[2-[(7-chloro-1,3-benzoxazol-2-yl)amino]-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyrimidine-5-carbonyl]amino]pyridine-4-carboxylic acid	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	1.9300	uM
2-[[2-[(6-chloro-1,3-benzoxazol-2-yl)amino]-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyrimidine-5-carbonyl]amino]pyridine-4-carboxylic acid	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	1.9300	uM
2-(4-hydroxyphenyl)-6-[(3-morpholin-4-ylphenyl)methylsulfanyl]-4-oxo-2,3-dihydro-1,3-thiazine-5-carbonitrile	656784: Inhibition of human galactosidase after 30 mins by Kinase-GloTM assay	ic50	2.4000	uM
2-[[2-[(5-chloro-1,3-benzoxazol-2-yl)amino]-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyrimidine-5-carbonyl]amino]pyridine-4-carboxylic acid	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	2.4300	uM
3-[[2-(1,3-benzoxazol-2-ylamino)-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyrimidine-5-carbonyl]amino]benzoic acid	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	2.4300	uM
2-[[4-(2-chlorophenyl)-2-[(5-fluoro-1,3-benzoxazol-2-yl)amino]-6-methyl-1,4-dihydropyrimidine-5-carbonyl]amino]pyridine-4-carboxylic acid	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	3.1623	uM
2-[[4-(2-chloro-4-phenylphenyl)-2-[(6-fluoro-1,3-benzoxazol-2-yl)amino]-6-methyl-1,4-dihydropyrimidine-5-carbonyl]amino]pyridine-4-carboxylic acid	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	3.4300	uM
4-[[[2-(1,3-benzoxazol-2-ylamino)-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyrimidine-5-carbonyl]amino]methyl]benzoic acid	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	3.4300	uM
4-[[2-(1,3-benzoxazol-2-ylamino)-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyrimidine-5-carbonyl]amino]pyridine-2-carboxylic acid	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	3.4300	uM
2-(1,3-benzoxazol-2-ylamino)-4-(2-chlorophenyl)-6-methyl-N-(1,3,4-thiadiazol-2-yl)-1,4-dihydropyrimidine-5-carboxamide	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	3.4300	uM
2-(1,3-benzoxazol-2-ylamino)-4-(2-chlorophenyl)-N-(4-hydroxyphenyl)-6-methyl-1,4-dihydropyrimidine-5-carboxamide	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	3.7153	uM
2-[[4-(2-chlorophenyl)-2-[(4-fluoro-1,3-benzoxazol-2-yl)amino]-6-methyl-1,4-dihydropyrimidine-5-carbonyl]amino]pyridine-4-carboxylic acid	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	3.8500	uM
2-(1,3-benzoxazol-2-ylamino)-4-(2-chlorophenyl)-N-[2-(hydroxymethyl)phenyl]-6-methyl-1,4-dihydropyrimidine-5-carboxamide	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	3.8500	uM
2-(1,3-benzoxazol-2-ylamino)-4-(2-chlorophenyl)-N-[3-(hydroxymethyl)phenyl]-6-methyl-1,4-dihydropyrimidine-5-carboxamide	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	3.8500	uM
ethyl 3-[[2-(1,3-benzoxazol-2-ylamino)-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyrimidine-5-carbonyl]amino]benzoate	1847459: Inhibition of recombinant human GALK1 using galactose as substrate incubated for 1 hrs in the presence of ATP by Kinase-Glo reagent based luminescence assay	ic50	3.8500	uM

CTD chemical–gene interactions

59 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, decreases methylation, increases expression	3
Benzo(a)pyrene	decreases expression, affects methylation	3
Tobacco Smoke Pollution	affects expression, decreases expression	3
sodium arsenite	decreases expression, increases abundance	2
Arsenic Trioxide	affects binding, decreases reaction, increases expression	2
Air Pollutants	decreases expression, increases abundance, increases expression	2
Arsenic	increases abundance, affects methylation, decreases expression	2
Smoke	increases abundance, increases expression, decreases expression	2
Cyclosporine	decreases expression	2
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
deoxynivalenol	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, decreases expression	1
tetrahydropalmatine	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	increases expression	1
zinc chromate	decreases expression, increases abundance	1
galactose-1-phosphate	affects binding, decreases abundance, decreases activity, increases abundance, increases metabolic processing	1
4-aminophenylarsenoxide	decreases reaction, affects binding	1
nivalenol	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
entinostat	increases expression	1
K 7174	decreases expression	1
nutlin 3	affects cotreatment, increases secretion	1
bisphenol S	increases methylation	1
jinfukang	affects cotreatment, increases expression	1

ChEMBL screening assays

19 unique, capped per target: 15 binding, 4 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1613821	Functional	PUBCHEM_BIOASSAY: Confirmation Assay for Inhibitors of Human Galactosidase (GALK). (Class of assay: confirmatory) [Related pubchem assays: 1868, 1379 ]	PubChem BioAssay data set
CHEMBL1837840	Binding	Inhibition of human GALK1 up to 50 uM	Identification of novel small molecule inhibitors of 4-diphosphocytidyl-2-C-methyl-D-erythritol (CDP-ME) kinase of Gram-negative bacteria. — Bioorg Med Chem

Cellosaurus cell lines

6 cell lines: 3 finite cell line, 2 transformed cell line, 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1SN	Abcam HeLa GALK1 KO	Cancer cell line	Female
CVCL_VR12	HEK293T GALK1 KO clone 10	Transformed cell line	Female
CVCL_VR14	HEK293T GALE+GALK1 KO clone 12	Transformed cell line	Female
CVCL_W232	GM00334	Finite cell line	Female
CVCL_W722	GM00335	Finite cell line	Female
CVCL_W723	GM00336	Finite cell line	Male

Clinical trials (associated diseases)

18 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00587223	PHASE3	TERMINATED	Safety and Efficacy of Apligraf in Nonhealing Wounds of Subjects With Junctional or Dystrophic Epidermolysis Bullosa (EB)
NCT06917690	PHASE3	RECRUITING	A Study to Learn About the Safety and Efficacy of the Drug Oleogel-S10 in Japanese Patients With Epidermolysis Bullosa
NCT02960997	PHASE2	COMPLETED	Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study
NCT03016715	PHASE2	UNKNOWN	Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study
NCT03578029	PHASE2	TERMINATED	Evaluation of the Safety and Efficacy Study of RGN-137 Topical Gel for Junctional and Dystrophic Epidermolysis Bullosa
NCT04908215	PHASE2	COMPLETED	INM-755 (Cannabinol) Cream for Treatment of Epidermolysis Bullosa
NCT06594393	PHASE2	RECRUITING	A Phase 2 Study of TCP-25 Gel in Patients With Epidermolysis Bullosa, STEP-study
NCT03472287	PHASE1	COMPLETED	To Evaluate the Pharmacokinetic of Diacerein and Rhein After Maximum Use in Patients With Epidermolysis Bullosa (EB)
NCT06713434	PHASE1	ACTIVE_NOT_RECRUITING	Pilot Study of ELK-003 Eye Drops for Treating Ocular Manifestations of Epidermolysis Bullosa
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT03490331	PHASE1/PHASE2	TERMINATED	Clinical Trial to Assess Safety and Efficacy of Autologous Cultured Epidermal Grafts Containing Epidermal Stem Cells Genetically Modified in Patients With JEB (HOLOGENE17)
NCT03526159	PHASE1/PHASE2	RECRUITING	Gentamicin for Junctional Epidermolysis Bullosa
NCT04140786	PHASE1/PHASE2	UNKNOWN	Optimizing IV Gentamicin in JEB
NCT03269474	Not specified	UNKNOWN	Computational Drug Repurposing for All EBS Cases
NCT04727268	Not specified	UNKNOWN	Genotype-phenotype Correlation in Junctional Epidermolysis Bullosa
NCT05033574	Not specified	UNKNOWN	The State of Sexual Development in Children With Inherited Epidermolysis Bullosa
NCT06007235	Not specified	UNKNOWN	CACIPLIQ20 in Wound Healing in Subjects With Epidermolysis Bullosa
NCT06423573	Not specified	RECRUITING	A Study to Assess the Incidence of Skin Cancers in Patients With Epidermolysis Bullosa Receiving Filsuvez