PSKH1

Summary

PSKH1 (protein serine kinase H1, HGNC:9529) is a protein-coding gene on chromosome 16q22.1, encoding Serine/threonine-protein kinase H1 (P11801). Serine/threonine protein kinase that may be involved in the regulation of pre-mRNA processing.

Enables protein serine/threonine kinase activity. Predicted to be involved in chromatin remodeling. Predicted to act upstream of or within determination of left/right symmetry; heart development; and protein phosphorylation. Located in several cellular components, including cilium; cytosol; and nuclear speck.

Source: NCBI Gene 5681 — RefSeq curated summary.

At a glance

• Gene–disease (curated): cholestasis, progressive familial intrahepatic, 13 (Strong, GenCC)
• GWAS associations: 16
• Clinical variants (ClinVar): 65 total — 3 pathogenic
• Phenotypes (HPO): 53
• Druggable target: yes
• MANE Select transcript: NM_006742

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9529
Approved symbol	PSKH1
Name	protein serine kinase H1
Location	16q22.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000159792
Ensembl biotype	protein_coding
OMIM	177015
Entrez	5681

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000291041, ENST00000570631, ENST00000575198

RefSeq mRNA: 1 — MANE Select: NM_006742 NM_006742

CCDS: CCDS10851

Canonical transcript exons

ENST00000291041 — 3 exons

Exon	Start	End
ENSE00001047801	67908680	67909706
ENSE00001204903	67927325	67929676
ENSE00003843120	67893254	67893371

Expression profiles

Bgee: expression breadth ubiquitous, 217 present calls, max score 89.32.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.5928 / max 101.3647, expressed in 1813 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
154692	19.5928	1813

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	89.32	gold quality
apex of heart	UBERON:0002098	88.22	gold quality
mucosa of transverse colon	UBERON:0004991	88.22	gold quality
lower esophagus muscularis layer	UBERON:0035833	88.13	gold quality
lower esophagus	UBERON:0013473	88.11	gold quality
metanephros cortex	UBERON:0010533	87.98	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	87.63	gold quality
body of stomach	UBERON:0001161	87.45	gold quality
body of pancreas	UBERON:0001150	87.36	gold quality
right coronary artery	UBERON:0001625	87.27	gold quality
popliteal artery	UBERON:0002250	86.73	gold quality
tibial artery	UBERON:0007610	86.70	gold quality
left ovary	UBERON:0002119	86.52	gold quality
left adrenal gland cortex	UBERON:0035825	86.43	gold quality
aorta	UBERON:0000947	86.40	gold quality
muscle layer of sigmoid colon	UBERON:0035805	86.33	gold quality
right adrenal gland	UBERON:0001233	86.31	gold quality
left adrenal gland	UBERON:0001234	86.31	gold quality
left coronary artery	UBERON:0001626	86.29	gold quality
left uterine tube	UBERON:0001303	86.23	gold quality
thoracic aorta	UBERON:0001515	86.17	gold quality
right ovary	UBERON:0002118	86.12	gold quality
ascending aorta	UBERON:0001496	86.11	gold quality
left testis	UBERON:0004533	86.02	gold quality
body of uterus	UBERON:0009853	86.00	gold quality
transverse colon	UBERON:0001157	85.92	gold quality
right adrenal gland cortex	UBERON:0035827	85.65	gold quality
esophagus	UBERON:0001043	85.64	gold quality
coronary artery	UBERON:0001621	85.63	gold quality
stomach	UBERON:0000945	85.42	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.21

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

85 targeting PSKH1, 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-6851-5P	100.00	65.63	1294
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-4493	99.90	66.48	977
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-6857-5P	99.87	65.32	985
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-4668-5P	99.79	70.58	3782

Literature-anchored findings (GeneRIF, showing 2)

• A minimal region required for proper Golgi targeting of PSKH1 was identified within the first 29 amino acids; and structural and regulatory role of PSKH1 in maintenance of the Golgi apparatus is determined (PMID:14644153)
• Cataloguing the dead: breathing new life into pseudokinase research. (PMID:32053275)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	pskh1	ENSDARG00000056713
mus_musculus	Pskh1	ENSMUSG00000048310
rattus_norvegicus	Pskh1	ENSRNOG00000019290

Paralogs (22): CAMKK1 (ENSG00000004660), CAMK1G (ENSG00000008118), CAMK2B (ENSG00000058404), CAMK2A (ENSG00000070808), MYLK2 (ENSG00000101306), CAMKK2 (ENSG00000110931), STK11 (ENSG00000118046), STK33 (ENSG00000130413), PNCK (ENSG00000130822), DCLK1 (ENSG00000133083), CAMK1 (ENSG00000134072), MYLK3 (ENSG00000140795), CAMK2D (ENSG00000145349), MYLK4 (ENSG00000145949), PSKH2 (ENSG00000147613), CAMK2G (ENSG00000148660), PHKG2 (ENSG00000156873), DCLK3 (ENSG00000163673), CAMKV (ENSG00000164076), PHKG1 (ENSG00000164776), DCLK2 (ENSG00000170390), CAMK1D (ENSG00000183049)

Protein

Protein identifiers

Serine/threonine-protein kinase H1 — P11801 (reviewed: P11801)

Alternative names: Protein serine kinase H1

All UniProt accessions (2): P11801, A0A087WZT9

UniProt curated annotations — full annotation on UniProt →

Function. Serine/threonine protein kinase that may be involved in the regulation of pre-mRNA processing. It may phosphorylate components of nuclear splice factor compartments (SFC), such as non-snRNP splicing factors containing a serine/arginine-rich domain (SR proteins). Reversible phosphorylation of SR proteins may cause their release into the nucleoplasm and change their local concentration, thereby influencing alternative splicing.

Subunit / interactions. Homodimer.

Subcellular location. Golgi apparatus. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Nucleus speckle. Endoplasmic reticulum membrane. Cell membrane.

Tissue specificity. Expressed in all tissues and cell lines tested with the highest level of abundance in testis.

Post-translational modifications. Autophosphorylated on serine residues. Myristoylated. Required for membrane association. Prerequisite for palmitoylation to occur. Palmitoylated.

Disease relevance. Cholestasis, progressive familial intrahepatic, 13 (PFIC13) [MIM:620962] A form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC13 is an autosomal recessive form characterized by progressive liver dysfunction and chronic renal failure often associated with unilateral renal agenesis and glomerulosclerosis. The disease may be caused by variants affecting the gene represented in this entry.

Activity regulation. Activity depends on Ca(2+) concentration.

Similarity. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.

RefSeq proteins (1): NP_006733* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000719	Prot_kinase_dom	Domain
IPR008271	Ser/Thr_kinase_AS	Active_site
IPR011009	Kinase-like_dom_sf	Homologous_superfamily
IPR017441	Protein_kinase_ATP_BS	Binding_site

Pfam: PF00069

Enzyme classification (BRENDA):

• EC 2.7.11.1 — non-specific serine/threonine protein kinase (BRENDA: 71 organisms, 682 substrates, 228 inhibitors, 23 Km, 6 kcat entries)

Substrate kinetics (BRENDA)

8 substrates with measured Km, best-characterized 8. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ATP	0.0007–0.64	11
KKRAARATSNVFA	0.013–0.045	3
PAH1 PHOSPHATIDATE PHOSPHATASE	0.0002	2
RRRLSSLRA	0.0036–0.0037	2
GTP	0.46	1
KKRAARASSNVFA	0.02	1
LYS-LYS-PHE-ASN-ARG-THR-LEU-SER-VAL-ALA	0.0093	1
MYELIN BASIC PROTEIN	0.145	1

Catalyzed reactions (Rhea), 2 shown:

• L-seryl-[protein] + ATP = O-phospho-L-seryl-[protein] + ADP + H(+) (RHEA:17989)
• L-threonyl-[protein] + ATP = O-phospho-L-threonyl-[protein] + ADP + H(+) (RHEA:46608)

UniProt features (18 total): sequence variant 4, modified residue 2, lipid moiety-binding region 2, region of interest 2, binding site 2, initiator methionine 1, chain 1, mutagenesis site 1, domain 1, compositionally biased region 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P11801-F1	75.44	0.49

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 (1): 218 (proton acceptor)

Ligand- & substrate-binding residues (2): 104–112; 127

Post-translational modifications (4): 381, 2, 3, 380

Mutagenesis-validated functional residues (1):

Position	Phenotype
218	loss of autophosphorylation.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 187 (showing top): chr16q22, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_SPECIFICATION_OF_SYMMETRY, GTGCCTT_MIR506, BLALOCK_ALZHEIMERS_DISEASE_UP, GOCC_CENTROSOME, CREB_Q2_01, CREB_Q3, AGCATTA_MIR155, GOBP_CIRCULATORY_SYSTEM_DEVELOPMENT, GOCC_NUCLEAR_SPECK, YAGI_AML_WITH_11Q23_REARRANGED, GOCC_NUCLEAR_BODY, KAYO_AGING_MUSCLE_DN

GO Biological Process (3): determination of left/right symmetry (GO:0007368), heart development (GO:0007507), protein phosphorylation (GO:0006468)

GO Molecular Function (8): protein serine/threonine kinase activity (GO:0004674), ATP binding (GO:0005524), protein serine kinase activity (GO:0106310), nucleotide binding (GO:0000166), protein kinase activity (GO:0004672), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740)

GO Cellular Component (12): cytoplasm (GO:0005737), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), centrosome (GO:0005813), cytosol (GO:0005829), plasma membrane (GO:0005886), cilium (GO:0005929), nuclear speck (GO:0016607), nucleus (GO:0005634), endoplasmic reticulum (GO:0005783), cytoskeleton (GO:0005856), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cytoplasm	3
intracellular membrane-bounded organelle	3
protein kinase activity	2
endomembrane system	2
determination of bilateral symmetry	1
left/right pattern formation	1
animal organ development	1
circulatory system development	1
phosphorylation	1
protein modification process	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
kinase activity	1
phosphotransferase activity, alcohol group as acceptor	1
catalytic activity, acting on a protein	1
binding	1
transferase activity, transferring phosphorus-containing groups	1
catalytic activity	1
intracellular anatomical structure	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
centriole	1
microtubule organizing center	1
membrane	1
cell periphery	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
nuclear ribonucleoprotein granule	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1661 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PSKH1	LCAT	P04180	810
PSKH1	SLC12A4	Q9UP95	806
PSKH1	PSMB10	P40306	780
PSKH1	SLC12A2	P55011	767
PSKH1	SLC12A3	P55017	651
PSKH1	SHISA4	Q96DD7	449
PSKH1	C16orf86	Q6ZW13	447
PSKH1	PPP1R27	Q86WC6	436
PSKH1	TSTD2	Q5T7W7	398
PSKH1	ZNF648	Q5T619	393
PSKH1	POMK	Q9H5K3	377
PSKH1	GALK2	Q01415	370
PSKH1	EDC4	Q6P2E9	369
PSKH1	ENDOV	Q8N8Q3	360
PSKH1	PPEF2	O14830	333

IntAct

10 interactions, top by confidence:

A	B	Type	Score
UNC119	UNC119B	psi-mi:“MI:0914”(association)	0.640
HSP90AB1	PSKH1	psi-mi:“MI:0915”(physical association)	0.640
PSKH1	RDH13	psi-mi:“MI:0915”(physical association)	0.370
PSKH1	AIP	psi-mi:“MI:0914”(association)	0.350
PIPSL	C1orf226	psi-mi:“MI:0914”(association)	0.350
FTL	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350

BioGRID (67): PSKH1 (Affinity Capture-RNA), PSKH1 (Affinity Capture-MS), PSKH1 (Reconstituted Complex), PSKH1 (Affinity Capture-Western), PSKH1 (Affinity Capture-MS), PSKH1 (Affinity Capture-MS), PSKH1 (Affinity Capture-MS), AIP (Affinity Capture-MS), UBR5 (Affinity Capture-MS), HSP90AA1 (Affinity Capture-MS), HSP90AB1 (Affinity Capture-MS), RPS17 (Affinity Capture-MS), RPS15 (Affinity Capture-MS), MRPS22 (Affinity Capture-MS), MRPS35 (Affinity Capture-MS)

ESM2 similar proteins: O08605, O08875, O80673, O97627, P00518, P07934, P08414, P11801, P13286, P15735, P21146, P25098, P26817, P26818, P26819, P31325, P35626, P97477, Q0V7M1, Q10KY3, Q13555, Q16566, Q16816, Q21734, Q2KJ16, Q39183, Q3UYH7, Q4G050, Q501V0, Q58D94, Q5U2N4, Q64682, Q66I46, Q66JF3, Q6P431, Q7TPS0, Q8CDB0, Q91YA2, Q96QS6, Q99MK8

Diamond homologs: A0A509AFG4, A0A5K1K8H0, A2AAJ9, A2ZVI7, A4IFM7, A8C984, A8WXF6, B9FKW9, C0HKC8, C0HKC9, E9PT87, O02827, O43293, O44997, O54784, O62305, O70150, O75147, O80673, O88764, O94768, P07313, P08414, P11801, P13234, P15735, P18653, P20689, P29294, P31325, P34101, P43292, P53355, P53681, Q00168, Q00771, Q0KHT7, Q0V7M1, Q10KY3, Q14012

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	54
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
3341155	NM_006742.3(PSKH1):c.361C>T (p.Arg121Trp)	Pathogenic
3341156	NM_006742.3(PSKH1):c.376A>G (p.Ile126Val)	Pathogenic
3341157	NM_006742.3(PSKH1):c.547C>T (p.Arg183Cys)	Pathogenic

SpliceAI

608 predictions. Top by Δscore:

Variant	Effect	Δscore
16:67893370:AGGT:A	donor_loss	1.0000
16:67893372:G:T	donor_loss	1.0000
16:67908675:TGTA:T	acceptor_loss	1.0000
16:67908676:GTAG:G	acceptor_loss	1.0000
16:67908677:TA:T	acceptor_loss	1.0000
16:67908678:A:AG	acceptor_gain	1.0000
16:67908679:G:A	acceptor_loss	1.0000
16:67908679:G:GG	acceptor_gain	1.0000
16:67908679:GGT:G	acceptor_gain	1.0000
16:67927323:A:AG	acceptor_gain	1.0000
16:67927324:G:GG	acceptor_gain	1.0000
16:67927324:GCCCT:G	acceptor_gain	1.0000
16:67893373:T:G	donor_loss	0.9900
16:67908671:T:TA	acceptor_gain	0.9900
16:67908678:AG:A	acceptor_gain	0.9900
16:67908679:GG:G	acceptor_gain	0.9900
16:67908679:GGTGT:G	acceptor_gain	0.9900
16:67909690:AC:A	donor_gain	0.9900
16:67909705:AGGTG:A	donor_loss	0.9900
16:67909706:GG:G	donor_loss	0.9900
16:67909708:T:A	donor_loss	0.9900
16:67909709:G:GG	donor_loss	0.9900
16:67927324:G:GC	acceptor_loss	0.9900
16:67927324:GC:G	acceptor_gain	0.9900
16:67927324:GCC:G	acceptor_gain	0.9900
16:67927324:GCCC:G	acceptor_gain	0.9900
16:67908673:T:TA	acceptor_gain	0.9800
16:67908675:T:TA	acceptor_gain	0.9800
16:67908678:AGGT:A	acceptor_gain	0.9800
16:67908679:GGTG:G	acceptor_gain	0.9800

AlphaMissense

2740 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:67909017:T:C	F90L	1.000
16:67909018:T:C	F90S	1.000
16:67909019:T:A	F90L	1.000
16:67909019:T:G	F90L	1.000
16:67909030:T:A	V94D	1.000
16:67909041:T:A	Y98N	1.000
16:67909041:T:C	Y98H	1.000
16:67909041:T:G	Y98D	1.000
16:67909042:A:C	Y98S	1.000
16:67909042:A:G	Y98C	1.000
16:67909060:T:A	I104N	1.000
16:67909062:G:C	G105R	1.000
16:67909063:G:A	G105D	1.000
16:67909063:G:T	G105V	1.000
16:67909068:G:A	G107S	1.000
16:67909068:G:C	G107R	1.000
16:67909068:G:T	G107C	1.000
16:67909069:G:A	G107D	1.000
16:67909069:G:T	G107V	1.000
16:67909074:T:A	F109I	1.000
16:67909074:T:C	F109L	1.000
16:67909076:C:A	F109L	1.000
16:67909076:C:G	F109L	1.000
16:67909077:A:C	S110R	1.000
16:67909078:G:T	S110I	1.000
16:67909079:C:A	S110R	1.000
16:67909079:C:G	S110R	1.000
16:67909083:G:C	V112L	1.000
16:67909083:G:T	V112L	1.000
16:67909084:T:A	V112E	1.000

dbSNP variants (sampled 300 via entrez): RS1000079167 (16:67904952 G>A), RS1000129958 (16:67904629 C>T), RS1000203940 (16:67924748 C>T), RS1000298153 (16:67918660 C>T), RS1000351647 (16:67911448 C>T), RS1000392650 (16:67918029 C>A), RS1000422004 (16:67898319 C>T), RS1000487358 (16:67914366 T>C), RS1000500013 (16:67923276 G>T), RS1000523324 (16:67896184 C>T), RS1000528494 (16:67907234 G>A), RS1000629020 (16:67916957 C>G), RS1000723813 (16:67916627 G>A), RS1000815678 (16:67891944 C>T), RS1000827070 (16:67891669 C>T)

Disease associations

OMIM: gene MIM:177015 | disease phenotypes: MIM:620962

GenCC curated gene-disease

Disease	Classification	Inheritance
cholestasis, progressive familial intrahepatic, 13	Strong	Autosomal recessive

Mondo (1): cholestasis, progressive familial intrahepatic, 13 (MONDO:0975807)

Orphanet (0):

HPO phenotypes

53 total (30 of 53 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000083	Renal insufficiency
HP:0000097	Focal segmental glomerulosclerosis
HP:0000112	Nephropathy
HP:0000122	Unilateral renal agenesis
HP:0000126	Hydronephrosis
HP:0000776	Congenital diaphragmatic hernia
HP:0000822	Hypertension
HP:0000952	Jaundice
HP:0001263	Global developmental delay
HP:0001394	Cirrhosis
HP:0001395	Hepatic fibrosis
HP:0001396	Cholestasis
HP:0001397	Hepatic steatosis
HP:0001399	Hepatic failure
HP:0001408	Bile duct proliferation
HP:0001433	Hepatosplenomegaly
HP:0001510	Growth delay
HP:0001541	Ascites
HP:0001744	Splenomegaly
HP:0001876	Pancytopenia
HP:0001903	Anemia
HP:0001942	Metabolic acidosis
HP:0001999	Abnormal facial shape
HP:0002098	Respiratory distress
HP:0002240	Hepatomegaly
HP:0002613	Biliary cirrhosis
HP:0002630	Fat malabsorption
HP:0002643	Neonatal respiratory distress
HP:0002908	Conjugated hyperbilirubinemia

GWAS associations

16 associations (top):

Study	Trait	p-value
GCST002539_84	Schizophrenia	2.000000e-08
GCST004602_279	Mean corpuscular volume	9.000000e-10
GCST004630_204	Mean corpuscular hemoglobin	1.000000e-09
GCST006611_132	HDL cholesterol	9.000000e-95
GCST006803_42	Schizophrenia	4.000000e-08
GCST009367_26	HDL cholesterol levels x short total sleep time interaction (2df test)	1.000000e-31
GCST009367_27	HDL cholesterol levels x short total sleep time interaction (2df test)	8.000000e-12
GCST009368_64	HDL cholesterol levels x long total sleep time interaction (2df test)	2.000000e-30
GCST009368_65	HDL cholesterol levels x long total sleep time interaction (2df test)	3.000000e-13
GCST010002_113	Refractive error	2.000000e-14
GCST010241_158	Apolipoprotein A1 levels	3.000000e-75
GCST010242_503	HDL cholesterol levels	3.000000e-88
GCST90000025_96	Appendicular lean mass	3.000000e-13
GCST90002384_363	Hemoglobin	5.000000e-27
GCST90002392_509	Mean corpuscular volume	2.000000e-15
GCST90002396_593	Mean reticulocyte volume	3.000000e-09

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004527	mean corpuscular hemoglobin
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004980	appendicular lean mass
EFO:0004509	hemoglobin measurement
EFO:0010701	mean reticulocyte volume

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4524035 (SINGLE PROTEIN)

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — PSK family

ChEMBL bioactivities

3 potent at pChembl≥5 of 3 total, top 3 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.00	IC50	1000	nM	TP-030-1
6.00	IC50	1000	nM	TP-030-2
6.00	IC50	1000	nM	TP-030n

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, decreases methylation, affects methylation	3
sodium arsenite	decreases expression, increases expression	2
GSK-J4	decreases expression	1
bisphenol F	affects cotreatment, increases expression	1
ferrous chloride	decreases expression	1
cupric oxide	decreases expression	1
avobenzone	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
2-palmitoylglycerol	increases expression	1
(+)-JQ1 compound	increases expression	1
Leflunomide	decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	increases methylation	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Cyclosporine	decreases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1

ChEMBL screening assays

3 unique, capped per target: 3 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4884837	Binding	PSKH1(PSH1LGRH) Takeda global kinase panel	Data for DCP probe TP-030-1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2CE	Abcam HeLa PSKH1 KO	Cancer cell line	Female
CVCL_TH27	HAP1 PSKH1 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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