UAP1

Summary

UAP1 (UDP-N-acetylglucosamine pyrophosphorylase 1, HGNC:12457) is a protein-coding gene on chromosome 1q23.3, encoding UDP-N-acetylhexosamine pyrophosphorylase (Q16222). Catalyzes the last step in biosynthesis of uridine diphosphate-N-acetylglucosamine (UDP-GlcNAc) by converting UTP and glucosamine 1-phosphate (GlcNAc-1-P) to the sugar nucleotide. It is a selective cancer dependency (DepMap: 20.7% of cell lines).

Enables identical protein binding activity and protein serine pyrophosphorylase activity. Involved in antiviral innate immune response and positive regulation of type I interferon production. Located in nucleoplasm and plasma membrane. Is active in cytosol.

Source: NCBI Gene 6675 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 74 total
• Cancer dependency (DepMap): dependent in 20.7% of screened cell lines
• MANE Select transcript: NM_001324116

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12457
Approved symbol	UAP1
Name	UDP-N-acetylglucosamine pyrophosphorylase 1
Location	1q23.3
Locus type	gene with protein product
Status	Approved
Aliases	AGX1, AgX
Ensembl gene	ENSG00000117143
Ensembl biotype	protein_coding
OMIM	602862
Entrez	6675

Gene structure

Transcript identifiers

Ensembl transcripts: 31 — 28 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000367925, ENST00000367926, ENST00000474728, ENST00000476240, ENST00000486089, ENST00000897999, ENST00000898000, ENST00000898001, ENST00000898002, ENST00000898003, ENST00000898004, ENST00000898005, ENST00000898006, ENST00000898007, ENST00000898008, ENST00000898009, ENST00000898010, ENST00000898011, ENST00000898012, ENST00000898013, ENST00000898014, ENST00000898015, ENST00000898016, ENST00000898017, ENST00000898018, ENST00000898019, ENST00000934840, ENST00000943539, ENST00000943540, ENST00000943541, ENST00000943542

RefSeq mRNA: 12 — MANE Select: NM_001324116 NM_001324113, NM_001324114, NM_001324115, NM_001324116, NM_001324117, NM_001388401, NM_001388402, NM_001399790, NM_001399791, NM_001399792, NM_001399793, NM_003115

CCDS: CCDS1240, CCDS81393

Canonical transcript exons

ENST00000367925 — 11 exons

Exon	Start	End
ENSE00000958805	162576777	162576981
ENSE00000958806	162579428	162579603
ENSE00000958807	162581287	162581459
ENSE00000958808	162587475	162587668
ENSE00000958809	162588693	162588833
ENSE00000958810	162590323	162590511
ENSE00000958811	162592732	162592782
ENSE00000958812	162597792	162597858
ENSE00001004734	162566012	162566348
ENSE00001734099	162599271	162601240
ENSE00001787338	162561722	162561777

Expression profiles

Bgee: expression breadth ubiquitous, 296 present calls, max score 99.12.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 58.3842 / max 3235.3302, expressed in 1825 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
6307	34.9798	1706
6306	14.4529	1811
6305	7.6897	1756
6303	0.5492	331
6308	0.3904	156
6304	0.2352	94
6302	0.0716	11
6309	0.0154	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
synovial joint	UBERON:0002217	99.12	gold quality
parotid gland	UBERON:0001831	99.09	gold quality
mucosa of sigmoid colon	UBERON:0004993	98.75	gold quality
cartilage tissue	UBERON:0002418	98.66	gold quality
colonic mucosa	UBERON:0000317	98.42	gold quality
bronchial epithelial cell	CL:0002328	98.23	gold quality
mucosa of stomach	UBERON:0001199	98.23	gold quality
pericardium	UBERON:0002407	98.05	gold quality
layer of synovial tissue	UBERON:0007616	97.89	gold quality
epithelium of bronchus	UBERON:0002031	97.82	gold quality
bronchus	UBERON:0002185	97.77	gold quality
nasal cavity epithelium	UBERON:0005384	97.66	gold quality
left testis	UBERON:0004533	97.64	gold quality
right testis	UBERON:0004534	97.52	gold quality
calcaneal tendon	UBERON:0003701	97.47	gold quality
vena cava	UBERON:0004087	97.43	gold quality
jejunal mucosa	UBERON:0000399	97.41	gold quality
nasal cavity mucosa	UBERON:0001826	97.40	gold quality
body of pancreas	UBERON:0001150	97.30	gold quality
palpebral conjunctiva	UBERON:0001812	97.15	gold quality
rectum	UBERON:0001052	97.06	gold quality
mucosa of paranasal sinus	UBERON:0005030	97.06	gold quality
testis	UBERON:0000473	96.95	gold quality
adult organism	UBERON:0007023	96.71	gold quality
peritoneum	UBERON:0002358	96.70	gold quality
adipose tissue of abdominal region	UBERON:0007808	96.70	gold quality
omental fat pad	UBERON:0010414	96.70	gold quality
right lobe of liver	UBERON:0001114	96.66	gold quality
adipose tissue	UBERON:0001013	96.61	gold quality
saliva-secreting gland	UBERON:0001044	96.50	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	1295.20
E-MTAB-8142	yes	88.46
E-CURD-88	yes	79.26
E-GEOD-130148	yes	4.99
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

35 targeting UAP1, 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-3163	100.00	77.23	8605
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-4267	99.96	66.53	2368
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-12129	99.72	67.45	1311
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-4470	99.66	69.35	1767
HSA-MIR-105-5P	99.54	69.24	2060
HSA-MIR-7853-5P	99.54	69.30	2055
HSA-MIR-7159-5P	99.53	72.12	2472
HSA-MIR-508-5P	99.41	64.25	1248
HSA-MIR-302A-5P	99.39	68.21	1913
HSA-MIR-410-3P	99.27	69.98	2457
HSA-MIR-548AS-3P	99.12	69.12	2294
HSA-MIR-2115-5P	98.66	68.07	1191
HSA-MIR-376B-5P	98.46	66.40	606
HSA-MIR-376C-5P	98.46	66.64	589

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 20.7% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 3)

• Results identified an enzyme, UAP1, which is highly overexpressed in prostate cancer and protects cancer cells from endoplasmic reticulum stress conferring a growth advantage. (PMID:25241896)
• Quantitative Proteomics of Urinary Bladder Cancer Cell Lines Identify UAP1 as a Potential Therapeutic Target. (PMID:32650368)
• A missense mutation in a patient with developmental delay affects the activity and structure of the hexosamine biosynthetic pathway enzyme AGX1. (PMID:33098688)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	uap1	ENSDARG00000052170
mus_musculus	Uap1	ENSMUSG00000026670
rattus_norvegicus	Uap1	ENSRNOG00000002926
rattus_norvegicus	AABR07063082.1	ENSRNOG00000031342
drosophila_melanogaster	mmy	FBGN0259749
caenorhabditis_elegans		WBGENE00007965

Paralogs (2): UGP2 (ENSG00000169764), UAP1L1 (ENSG00000197355)

Protein

Protein identifiers

UDP-N-acetylhexosamine pyrophosphorylase — Q16222 (reviewed: Q16222)

Alternative names: Antigen X, Protein-pyrophosphorylation enzyme, Sperm-associated antigen 2, UDP-N-acetylgalactosamine pyrophosphorylase, UDP-N-acetylglucosamine pyrophosphorylase

All UniProt accessions (2): Q16222, A0A140VKC0

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the last step in biosynthesis of uridine diphosphate-N-acetylglucosamine (UDP-GlcNAc) by converting UTP and glucosamine 1-phosphate (GlcNAc-1-P) to the sugar nucleotide. Also converts UTP and galactosamine 1-phosphate (GalNAc-1-P) into uridine diphosphate-N-acetylgalactosamine (UDP-GalNAc). In addition to its role in metabolism, acts as a regulator of innate immunity in response to virus infection by mediating pyrophosphorylation of IRF3: catalyzes pyrophosphorylation of IRF3 phosphorylated at ‘Ser-386’ by TBK1, promoting IRF3 dimerization and activation, leading to type I interferon responses. Isoform AGX1 has 2 to 3 times higher activity towards galactosamine 1-phosphate (GalNAc-1-P). Isoform AGX2 has 8 times more activity towards glucosamine 1-phosphate (GlcNAc-1-P).

Subunit / interactions. Monomer and homodimer. Homodimer. Homodimer.

Subcellular location. Cytoplasm. Cytosol.

Tissue specificity. Widely expressed. Expressed at low level in placenta, muscle and liver. Isoform AGX1 is more abundant in testis than isoform AGX2, while isoform AGX2 is more abundant than isoform AGX1 in somatic tissue. Isoform AGX2 is more abundant than isoform AGX1 in somatic tissue.

Pathway. Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D-glucosamine biosynthesis; UDP-N-acetyl-alpha-D-glucosamine from N-acetyl-alpha-D-glucosamine 1-phosphate: step 1/1.

Similarity. Belongs to the UDPGP type 1 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q16222-1	AGX2, AGX-2	yes
Q16222-2	AGX1, AGX-1
Q16222-3	3

RefSeq proteins (12): NP_001311042, NP_001311043, NP_001311044, NP_001311045, NP_001311046, NP_001375330, NP_001375331, NP_001386719, NP_001386720, NP_001386721, NP_001386722, NP_003106 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002618	UDPGP_fam	Family
IPR029044	Nucleotide-diphossugar_trans	Homologous_superfamily
IPR039741	UDP-sugar_pyrophosphorylase	Family

Pfam: PF01704

Enzyme classification (BRENDA):

• EC 2.7.7.23 — UDP-N-acetylglucosamine diphosphorylase (BRENDA: 30 organisms, 82 substrates, 147 inhibitors, 62 Km, 30 kcat entries)
• EC 2.7.7.83 — UDP-N-acetylgalactosamine diphosphorylase (BRENDA: 2 organisms, 14 substrates, 0 inhibitors, 11 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

16 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
N-ACETYL-D-GLUCOSAMINE 1-PHOSPHATE	0.011–2.25	15
UTP	0.0017–1.21	11
UDP-N-ACETYL-D-GLUCOSAMINE	0.065–6.1	10
N-ACETYL-ALPHA-D-GLUCOSAMINE 1-PHOSPHATE	0.008–0.861	9
DIPHOSPHATE	0.016–5.4	5
N-ACETYL-ALPHA-D-GALACTOSAMINE 1-PHOSPHATE	0.38–1.3	3
UDP-N-ACETYL-D-GALACTOSAMINE	0.808–2.768	3
N-ACETYL-D-GALACTOSAMINE 1-PHOSPHATE	0.38–1.3	2
N-ACETYL-D-GLUCOSAMINE 1-PHOSPHATE	0.24–0.32	2
N-ACETYLGLUCOSAMINE 1-PHOSPHATE	0.0053–0.006	2
UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE	0.5–0.53	2
UTP	0.049–0.053	2
D-GLUCOSE 1-PHOSPHATE	5.8	1
UDP-D-GLUCOSE	6.3	1
UDP-N-ACETYL-ALPHA-D-GLUCOSAMINE	0.016	1

Catalyzed reactions (Rhea), 3 shown:

• N-acetyl-alpha-D-glucosamine 1-phosphate + UTP + H(+) = UDP-N-acetyl-alpha-D-glucosamine + diphosphate (RHEA:13509)
• N-acetyl-alpha-D-galactosamine 1-phosphate + UTP + H(+) = UDP-N-acetyl-alpha-D-galactosamine + diphosphate (RHEA:34363)
• 5-diphospho-1D-myo-inositol 1,2,3,4,6-pentakisphosphate + O-phospho-L-seryl-[protein] = O-diphospho-L-seryl-[protein] + 1D-myo-inositol hexakisphosphate (RHEA:64104)

UniProt features (91 total): binding site 29, helix 27, strand 23, mutagenesis site 3, turn 3, splice variant 2, sequence conflict 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
6Z2F	X-RAY DIFFRACTION	1.7
1JV1	X-RAY DIFFRACTION	1.9
1JV3	X-RAY DIFFRACTION	2.2
1JVG	X-RAY DIFFRACTION	2.3
1JVD	X-RAY DIFFRACTION	2.4
8QH2	X-RAY DIFFRACTION	2.75

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q16222-F1	93.42	0.89

Functional residue map

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

Ligand- & substrate-binding residues (29): 108; 222; 223; 223; 251; 251; 252; 252; 290; 290; 303; 108 …

Mutagenesis-validated functional residues (3):

Position	Phenotype
115–122	abolished udp-n-acetylhexosamine pyrophosphorylase and protein-pyrophosphorylation activities.
407	abolished udp-n-acetylhexosamine pyrophosphorylase and protein-pyrophosphorylation activities.
453	decreased interaction with irf3, leading to decreased pyrophosphorylation of irf3.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-446210	Synthesis of UDP-N-acetyl-glucosamine

MSigDB gene sets: 247 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE45365_NK_CELL_VS_CD11B_DC_DN, GOBP_POSITIVE_REGULATION_OF_TYPE_I_INTERFERON_PRODUCTION, HALMOS_CEBPA_TARGETS_UP, SHAFFER_IRF4_TARGETS_IN_ACTIVATED_B_LYMPHOCYTE, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOBP_AMINO_SUGAR_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, XU_HGF_SIGNALING_NOT_VIA_AKT1_48HR_UP, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, BILD_HRAS_ONCOGENIC_SIGNATURE

GO Biological Process (5): UDP-N-acetylglucosamine biosynthetic process (GO:0006048), positive regulation of type I interferon production (GO:0032481), antiviral innate immune response (GO:0140374), immune system process (GO:0002376), innate immune response (GO:0045087)

GO Molecular Function (8): UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977), identical protein binding (GO:0042802), UDP-N-acetylgalactosamine diphosphorylase activity (GO:0052630), protein serine pyrophosphorylase activity (GO:0141090), transferase activity (GO:0016740), transferase activity, transferring phosphorus-containing groups (GO:0016772), nucleotidyltransferase activity (GO:0016779), uridylyltransferase activity (GO:0070569)

GO Cellular Component (4): nucleoplasm (GO:0005654), cytosol (GO:0005829), plasma membrane (GO:0005886), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Synthesis of substrates in N-glycan biosythesis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
uridylyltransferase activity	2
UDP-N-acetylglucosamine metabolic process	1
nucleotide-sugar biosynthetic process	1
amino sugar biosynthetic process	1
positive regulation of cytokine production	1
regulation of type I interferon production	1
type I interferon production	1
innate immune response	1
defense response to virus	1
biological_process	1
immune response	1
defense response to symbiont	1
protein binding	1
phosphotransferase activity, phosphate group as acceptor	1
catalytic activity	1
transferase activity	1
transferase activity, transferring phosphorus-containing groups	1
nucleotidyltransferase activity	1
nuclear lumen	1
cytoplasm	1
membrane	1
cell periphery	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1466 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UAP1	GNPNAT1	Q96EK6	861
UAP1	PGM3	O95394	849
UAP1	GFPT1	Q06210	789
UAP1	GFPT2	O94808	769
UAP1	GALK2	Q01415	672
UAP1	GNE	Q9Y223	657
UAP1	GALE	Q14376	655
UAP1	GNPDA1	P46926	649
UAP1	NAGK	Q9UJ70	626
UAP1	GPI	P06744	614
UAP1	OGA	O60502	593
UAP1	UAP1L1	Q3KQV9	579
UAP1	RNF38	Q9H0F5	569
UAP1	NANS	Q9NR45	546
UAP1	OGT	O15294	531

IntAct

17 interactions, top by confidence:

A	B	Type	Score
UAP1	UAP1	psi-mi:“MI:0915”(physical association)	0.490
CDK16	UAP1	psi-mi:“MI:0915”(physical association)	0.370
LRRK2		psi-mi:“MI:0914”(association)	0.350
JMJD6	U2SURP	psi-mi:“MI:0914”(association)	0.350
NFYA	NME2P1	psi-mi:“MI:0914”(association)	0.350
PCDHGA9	UBA6	psi-mi:“MI:0914”(association)	0.350
SFN	BLTP3B	psi-mi:“MI:2364”(proximity)	0.270
YWHAB	E2F8	psi-mi:“MI:2364”(proximity)	0.270
YWHAE	E2F8	psi-mi:“MI:2364”(proximity)	0.270
YWHAH	E2F8	psi-mi:“MI:2364”(proximity)	0.270
YWHAQ	E2F8	psi-mi:“MI:2364”(proximity)	0.270
YWHAZ	E2F8	psi-mi:“MI:2364”(proximity)	0.270
YWHAG	E2F8	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (55): UAP1 (Two-hybrid), PABPC1 (Co-fractionation), PGM3 (Co-fractionation), SCLY (Co-fractionation), SDHB (Co-fractionation), UAP1 (Co-fractionation), WDR1 (Co-fractionation), UAP1 (Affinity Capture-MS), UAP1 (Affinity Capture-MS), UAP1 (Affinity Capture-MS), UAP1 (Affinity Capture-MS), UAP1 (Affinity Capture-MS), UAP1 (Affinity Capture-MS), UAP1 (Affinity Capture-MS), UAP1 (Affinity Capture-MS)

ESM2 similar proteins: A0A1E5S1A9, A2VCW9, A8BQB4, A8E657, O17732, O55044, O80585, O88989, P05370, P11410, P11412, P11413, P11708, P12646, P14152, P17571, P35573, P35574, P37830, P40925, P41571, P41764, P48163, P48826, P48828, P54996, P97324, Q00612, Q16222, Q27464, Q27638, Q28FT4, Q29492, Q2PQH8, Q3T145, Q42919, Q557D2, Q5ZME2, Q64511, Q6DIY9

Diamond homologs: A2YGP6, O64765, O74933, O94617, P43123, Q09WE7, Q16222, Q18493, Q28CH3, Q2FEW1, Q2FW81, Q2YYH4, Q3KQV9, Q3TW96, Q49ZB5, Q4L846, Q54GN5, Q5HE34, Q5HM59, Q5Z8Y4, Q6G7E3, Q6GEQ8, Q7A0A0, Q7A4A4, Q7ZWD4, Q8CNG6, Q8SQS1, Q91YN5, Q940S3, Q99S95, Q54YZ0, Q5W915, Q9C5I1, P19595, A6VLS5, B0UW09, Q0I1G0, Q59KI0, Q65R54, Q9CK29

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 17 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Activation of BAD and translocation to mitochondria	7	380.7×	3e-16
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	335.9×	5e-16
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	335.9×	5e-16
Activation of BH3-only proteins	7	248.3×	5e-15
RHO GTPases activate PKNs	7	158.6×	1e-13
Intrinsic Pathway for Apoptosis	7	146.4×	2e-13
FOXO-mediated transcription	5	120.0×	3e-09
SARS-CoV-1-host interactions	7	87.8×	9e-12

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	5	122.1×	4e-08
intracellular protein localization	8	55.8×	8e-11

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	51
Likely benign	5
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

1935 predictions. Top by Δscore:

Variant	Effect	Δscore
1:162579426:A:G	acceptor_gain	1.0000
1:162579599:TCCAG:T	donor_loss	1.0000
1:162579600:CCAG:C	donor_loss	1.0000
1:162579601:CAGG:C	donor_loss	1.0000
1:162579602:AGGT:A	donor_loss	1.0000
1:162579603:GGTT:G	donor_loss	1.0000
1:162579604:G:GG	donor_loss	1.0000
1:162579605:T:A	donor_loss	1.0000
1:162581282:TCCA:T	acceptor_loss	1.0000
1:162581285:A:AG	acceptor_gain	1.0000
1:162581285:A:T	acceptor_loss	1.0000
1:162581285:AGAT:A	acceptor_gain	1.0000
1:162581285:AGATG:A	acceptor_gain	1.0000
1:162581286:G:GC	acceptor_gain	1.0000
1:162581286:G:T	acceptor_loss	1.0000
1:162581286:GA:G	acceptor_gain	1.0000
1:162581286:GAT:G	acceptor_gain	1.0000
1:162581286:GATG:G	acceptor_gain	1.0000
1:162581286:GATGG:G	acceptor_gain	1.0000
1:162581457:AAGGT:A	donor_loss	1.0000
1:162581461:T:A	donor_loss	1.0000
1:162587669:G:GG	donor_gain	1.0000
1:162588691:A:AG	acceptor_gain	1.0000
1:162588692:G:GA	acceptor_gain	1.0000
1:162588692:GT:G	acceptor_gain	1.0000
1:162588825:G:GG	donor_gain	1.0000
1:162588834:G:GG	donor_gain	1.0000
1:162590321:A:AG	acceptor_gain	1.0000
1:162590322:G:GG	acceptor_gain	1.0000
1:162590322:GGAA:G	acceptor_gain	1.0000

AlphaMissense

3482 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:162581289:G:T	G222W	1.000
1:162581290:G:A	G222E	1.000
1:162581382:G:C	D253H	1.000
1:162581383:A:C	D253A	1.000
1:162581383:A:T	D253V	1.000
1:162581387:C:A	N254K	1.000
1:162581387:C:G	N254K	1.000
1:162587550:T:C	Y304H	1.000
1:162588811:T:C	F383L	1.000
1:162588813:T:A	F383L	1.000
1:162588813:T:G	F383L	1.000
1:162590360:T:C	F403L	1.000
1:162590362:T:A	F403L	1.000
1:162590362:T:G	F403L	1.000
1:162590374:G:C	K407N	1.000
1:162590374:G:T	K407N	1.000
1:162576843:T:C	L116P	0.999
1:162576862:G:C	K122N	0.999
1:162576862:G:T	K122N	0.999
1:162576863:G:A	G123R	0.999
1:162576863:G:C	G123R	0.999
1:162581290:G:T	G222V	0.999
1:162581294:T:A	N223K	0.999
1:162581294:T:G	N223K	0.999
1:162581296:G:A	G224D	0.999
1:162581378:T:G	C251W	0.999
1:162581383:A:G	D253G	0.999
1:162581384:C:A	D253E	0.999
1:162581384:C:G	D253E	0.999
1:162581389:T:A	I255K	0.999

dbSNP variants (sampled 300 via entrez): RS1000072010 (1:162601100 C>A,G,T), RS1000157084 (1:162576779 C>T), RS1000158385 (1:162567459 T>C), RS1000219569 (1:162576298 CT>C,CTT), RS1000228832 (1:162562837 A>T), RS1000357336 (1:162569170 C>G,T), RS1000388436 (1:162569391 A>G,T), RS1000402014 (1:162600857 G>T), RS1000476891 (1:162570397 T>C), RS1000594073 (1:162574157 A>G,T), RS1000646910 (1:162564109 A>T), RS1000660490 (1:162575786 C>T), RS1000691017 (1:162567700 A>C), RS1000702648 (1:162601287 G>A), RS1000744053 (1:162594772 A>C)

Disease associations

OMIM: gene MIM:602862 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	3
Air Pollutants	increases abundance, increases oxidation, decreases expression, increases expression, affects cotreatment	3
Cyclosporine	increases expression	3
bisphenol A	decreases expression	2
sodium arsenate	increases abundance, increases expression	2
chloropicrin	increases expression, decreases expression	2
Arsenic	increases expression, affects methylation, increases abundance	2
Cisplatin	increases expression, affects cotreatment, decreases expression	2
Nickel	increases expression	2
Tobacco Smoke Pollution	increases expression	2
Cadmium Chloride	increases abundance, increases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
tetrahydropalmatine	increases expression	1
beta-lapachone	increases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
tetrabromobisphenol A	increases expression	1
zinc chromate	decreases expression, increases abundance	1
cupric chloride	increases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
bicalutamide	increases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
bisphenol B	increases expression	1
abrine	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D1R6	Abcam K-562 UAP1 KO	Cancer cell line	Female
CVCL_D2MT	Abcam Raji UAP1 KO	Cancer cell line	Male
CVCL_WQ75	Abcam Jurkat UAP1 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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