UHMK1
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Also known as KISKist
Summary
UHMK1 (U2AF homology motif kinase 1, HGNC:19683) is a protein-coding gene on chromosome 1q23.3, encoding Serine/threonine-protein kinase Kist (Q8TAS1). Upon serum stimulation, phosphorylates CDKN1B/p27Kip1, thus controlling CDKN1B subcellular location and cell cycle progression in G1 phase.
The gene encodes a serine/threonine protein kinase that promotes cell cycle progression through G1 by phosphorylation of the cyclin-dependent kinase inhibitor 1B (p27Kip1), which causes nuclear export and degradation. The encoded protein is also thought to function in the adult nervous system and the gene has been associated with schizophrenia. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 127933 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 66 total — 1 likely-pathogenic
- MANE Select transcript:
NM_175866
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19683 |
| Approved symbol | UHMK1 |
| Name | U2AF homology motif kinase 1 |
| Location | 1q23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIS, Kist |
| Ensembl gene | ENSG00000152332 |
| Ensembl biotype | protein_coding |
| OMIM | 608849 |
| Entrez | 127933 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 7 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000282169, ENST00000489294, ENST00000538489, ENST00000545294, ENST00000874788, ENST00000874789, ENST00000874790, ENST00000949405
RefSeq mRNA: 3 — MANE Select: NM_175866
NM_001184763, NM_144624, NM_175866
CCDS: CCDS1239, CCDS53423, CCDS53424
Canonical transcript exons
ENST00000489294 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001004723 | 162500913 | 162501104 |
| ENSE00001225664 | 162499955 | 162500247 |
| ENSE00001838796 | 162522404 | 162529631 |
| ENSE00001888659 | 162497818 | 162498268 |
| ENSE00003523851 | 162518102 | 162518190 |
| ENSE00003537713 | 162512725 | 162512823 |
| ENSE00003610580 | 162512500 | 162512576 |
| ENSE00003652154 | 162503754 | 162503848 |
Expression profiles
Bgee: expression breadth ubiquitous, 259 present calls, max score 99.03.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 50.3923 / max 377.7889, expressed in 1824 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 6298 | 49.8437 | 1824 |
| 6300 | 0.3855 | 154 |
| 6299 | 0.1631 | 44 |
Top tissues by expression
259 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| kidney epithelium | UBERON:0004819 | 99.03 | gold quality |
| ileal mucosa | UBERON:0000331 | 99.02 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 98.92 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 98.89 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 98.75 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 98.67 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 98.60 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 98.52 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 98.38 | gold quality |
| endothelial cell | CL:0000115 | 98.27 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 98.16 | gold quality |
| medulla oblongata | UBERON:0001896 | 98.08 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 98.03 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 97.90 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 97.89 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 97.82 | gold quality |
| pons | UBERON:0000988 | 97.70 | gold quality |
| tibialis anterior | UBERON:0001385 | 97.68 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 97.68 | gold quality |
| seminal vesicle | UBERON:0000998 | 97.35 | gold quality |
| amniotic fluid | UBERON:0000173 | 97.26 | gold quality |
| corpus epididymis | UBERON:0004359 | 97.24 | gold quality |
| renal medulla | UBERON:0000362 | 97.23 | gold quality |
| deltoid | UBERON:0001476 | 97.21 | gold quality |
| caput epididymis | UBERON:0004358 | 97.20 | gold quality |
| decidua | UBERON:0002450 | 97.17 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 97.11 | gold quality |
| mammary duct | UBERON:0001765 | 97.10 | gold quality |
| superior surface of tongue | UBERON:0007371 | 97.08 | gold quality |
| eye | UBERON:0000970 | 97.00 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CDK8, CDK9, FOXM1, GABPA, PAX5, POLR2A
miRNA regulators (miRDB)
288 targeting UHMK1, 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-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
Literature-anchored findings (GeneRIF, showing 20)
- We identify the kinase responsible for S10 phosphorylation as human kinase interacting stathmin (hKIS) and show that it regulates cell cycle progression in response to mitogens. (PMID:12093740)
- KIS gene was overexpressed in NF1-associated plexiform neurofibromas and malignant peripheral nerve sheath tumors (MPNSTs) as compared to dermal neurofibroma which suggests a possible implication of KIS in the genesis of NF1-associated tumors. (PMID:12782393)
- Evidence indicating that UHMK1 may be a candidate susceptibility gene for Schizophrenia in the British population. UHMK1 is situated between previously implicated genes RGS4 and NOS1AP. (PMID:16978587)
- These results provide preliminary evidence that the UHMK1 gene increases susceptibility to schizophrenia. Further confirmation in adequately powered samples is needed. (PMID:16978587)
- KIS promoter is activated by serum-responsive GABP binding to Ets-binding sites which leads to KIS gene expression, cell migration, and cell cycle progression (PMID:17726090)
- Results show that KIS is a direct transcriptional target of FoxM1. (PMID:17984092)
- Overexpression of KIS protein kinase is associated with acute myelogenous leukemia, myelodysplastic syndrome and acute lymphoblastic leukemia (PMID:18384876)
- A follow up article showing further association between markers in UHMK1 and schizophrenia in a London based sample. Association replicated in an independent Scottish sample. (PMID:18414510)
- The association between UHMK1 and schizophrenia is confirmed. (PMID:18414510)
- KIS is expressed in neurons, and its encoded protein is localised to the nucleus and cytoplasm. No difference in KIS expression was found between schizophrenics and controls or in the lymphoblast cell lines. (PMID:19747464)
- The contribution of UHMK1 gene in schizophrenia susceptibility, was explored. (PMID:21399567)
- Moreover, we showed that CATS and KIS antagonize the transactivation capacity of CALM/AF10.In summary, our results show that CATS interacts with and is a substrate for KIS, suggesting that KIS regulates CATS function (PMID:23419774)
- genome-wide association study identified the UHMK1 gene as a novel bone mineral density locus specific to East Asians. (PMID:27424934)
- UHMK1 plays a role in hematopoietic cell differentiation and suppression of autonomous clonal growth of leukemia cells. (PMID:29307747)
- provide a model by which YAP supports cell proliferation through the induction of important cell cycle regulators in a UHMK1- and MYBL2-dependent manner (PMID:30936457)
- UHMK1 promotes gastric cancer progression through reprogramming nucleotide metabolism. (PMID:31975428)
- UHMK1-dependent phosphorylation of Cajal body protein coilin alters 5-FU sensitivity in colon cancer cells. (PMID:35151311)
- UHMK1 aids colorectal cancer cell proliferation and chemoresistance through augmenting IL-6/STAT3 signaling. (PMID:35501324)
- UHMK1 promotes lung adenocarcinoma oncogenesis by regulating the PI3K/AKT/mTOR signaling pathway. (PMID:36919755)
- KIS counteracts PTBP2 and regulates alternative exon usage in neurons. (PMID:38597390)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | uhmk1 | ENSDARG00000059575 |
| mus_musculus | Uhmk1 | ENSMUSG00000026667 |
| rattus_norvegicus | Uhmk1l1 | ENSRNOG00000002941 |
| rattus_norvegicus | ENSRNOG00000069116 | |
| drosophila_melanogaster | CstF64 | FBGN0027841 |
| caenorhabditis_elegans | WBGENE00000774 | |
| caenorhabditis_elegans | R06C1.4 | WBGENE00011059 |
Paralogs (5): U2AF2 (ENSG00000063244), CSTF2 (ENSG00000101811), RBMX2 (ENSG00000134597), ZCRB1 (ENSG00000139168), CSTF2T (ENSG00000177613)
Protein
Protein identifiers
Serine/threonine-protein kinase Kist — Q8TAS1 (reviewed: Q8TAS1)
Alternative names: Kinase interacting with stathmin, PAM COOH-terminal interactor protein 2, U2AF homology motif kinase 1
All UniProt accessions (1): Q8TAS1
UniProt curated annotations — full annotation on UniProt →
Function. Upon serum stimulation, phosphorylates CDKN1B/p27Kip1, thus controlling CDKN1B subcellular location and cell cycle progression in G1 phase. May be involved in trafficking and/or processing of RNA.
Subunit / interactions. Interacts with stathmin and CDKN1B/p27Kip1. Interacts with PAM.
Subcellular location. Nucleus.
Tissue specificity. Widely expressed, with highest levels in skeletal muscle, kidney, placenta and peripheral blood leukocytes.
Similarity. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8TAS1-1 | 1 | yes |
| Q8TAS1-2 | 2 | |
| Q8TAS1-3 | 3 |
RefSeq proteins (3): NP_001171692, NP_653225, NP_787062* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000504 | RRM_dom | Domain |
| IPR000719 | Prot_kinase_dom | Domain |
| IPR011009 | Kinase-like_dom_sf | Homologous_superfamily |
| IPR012677 | Nucleotide-bd_a/b_plait_sf | Homologous_superfamily |
| IPR034372 | UHMK1 | Family |
| IPR035979 | RBD_domain_sf | Homologous_superfamily |
Pfam: PF00069, PF00076
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 (12 total): splice variant 3, domain 2, sequence variant 2, binding site 2, chain 1, mutagenesis site 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TAS1-F1 | 90.31 | 0.71 |
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): 158 (proton acceptor)
Ligand- & substrate-binding residues (2): 29–37; 54
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 54 | loss of kinase activity. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9634638 | Estrogen-dependent nuclear events downstream of ESR-membrane signaling |
MSigDB gene sets: 216 (showing top):
RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, HORIUCHI_WTAP_TARGETS_DN, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_PEPTIDYL_SERINE_MODIFICATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_REGULATION_OF_PROTEIN_EXPORT_FROM_NUCLEUS, GOBP_TRANSLATIONAL_INITIATION, GOBP_NEUROGENESIS, ACTGCAG_MIR173P, GOBP_TRANSLATION, GOBP_POSITIVE_REGULATION_OF_TRANSLATIONAL_INITIATION, GOBP_NUCLEAR_TRANSPORT, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION
GO Biological Process (6): peptidyl-serine phosphorylation (GO:0018105), neuron projection development (GO:0031175), positive regulation of translational initiation (GO:0045948), regulation of protein export from nucleus (GO:0046825), regulation of cell cycle (GO:0051726), protein phosphorylation (GO:0006468)
GO Molecular Function (11): RNA binding (GO:0003723), protein serine/threonine kinase activity (GO:0004674), ATP binding (GO:0005524), ribonucleoprotein complex binding (GO:0043021), protein serine kinase activity (GO:0106310), nucleotide binding (GO:0000166), nucleic acid binding (GO:0003676), protein kinase activity (GO:0004672), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740)
GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), axon (GO:0030424), dendrite cytoplasm (GO:0032839), neuronal ribonucleoprotein granule (GO:0071598)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Extra-nuclear estrogen signaling | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein kinase activity | 2 |
| binding | 2 |
| neuron projection cytoplasm | 2 |
| protein phosphorylation | 1 |
| peptidyl-serine modification | 1 |
| neuron development | 1 |
| plasma membrane bounded cell projection organization | 1 |
| translational initiation | 1 |
| regulation of translational initiation | 1 |
| positive regulation of translation | 1 |
| protein export from nucleus | 1 |
| regulation of intracellular protein transport | 1 |
| regulation of nucleocytoplasmic transport | 1 |
| cell cycle | 1 |
| regulation of cellular process | 1 |
| phosphorylation | 1 |
| protein modification process | 1 |
| nucleic acid binding | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| protein-containing complex 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 |
| transferase activity, transferring phosphorus-containing groups | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| neuron projection | 1 |
| dendrite | 1 |
| cytoplasmic ribonucleoprotein granule | 1 |
Protein interactions and networks
STRING
1904 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| UHMK1 | STMN1 | P16949 | 910 |
| UHMK1 | KCNIP4 | Q6PIL6 | 777 |
| UHMK1 | KCNIP2 | Q9NS61 | 737 |
| UHMK1 | KCNIP1 | Q9NZI2 | 730 |
| UHMK1 | KCND3 | Q9UK17 | 698 |
| UHMK1 | KCNC1 | P48547 | 659 |
| UHMK1 | KCNIP3 | Q9Y2W7 | 655 |
| UHMK1 | PRPF40A | O75400 | 562 |
| UHMK1 | KCND2 | Q9NZV8 | 559 |
| UHMK1 | STYXL1 | Q9Y6J8 | 553 |
| UHMK1 | SF3B1 | O75533 | 550 |
| UHMK1 | AKIRIN1 | Q9H9L7 | 537 |
| UHMK1 | PAX5 | Q02548 | 522 |
| UHMK1 | METTL25 | Q8N6Q8 | 507 |
| UHMK1 | NUDT11 | Q96G61 | 489 |
IntAct
15 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| UHMK1 | ABL1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| EDEM2 | HACD1 | psi-mi:“MI:0914”(association) | 0.350 |
| PDK4 | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| UHMK1 | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| BEX1 | H2AX | psi-mi:“MI:0914”(association) | 0.350 |
| EEF1D | AHCYL1 | psi-mi:“MI:0914”(association) | 0.350 |
| L3HYPDH | HELZ | psi-mi:“MI:0914”(association) | 0.350 |
| EDEM2 | HIGD1C | psi-mi:“MI:0914”(association) | 0.350 |
| SF1 | UHMK1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| UHMK1 | SF1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| FYN | UHMK1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (50): UHMK1 (Affinity Capture-MS), UHMK1 (Two-hybrid), UHMK1 (Proximity Label-MS), UHMK1 (Affinity Capture-Western), UHMK1 (Two-hybrid), UHMK1 (Two-hybrid), LMO1 (Two-hybrid), TSGA10IP (Two-hybrid), NDUFAF3 (Two-hybrid), TMSB4X (Two-hybrid), UHMK1 (Affinity Capture-RNA), UHMK1 (Affinity Capture-MS), UHMK1 (Affinity Capture-MS), UHMK1 (Affinity Capture-MS), UHMK1 (Affinity Capture-MS)
ESM2 similar proteins: A0A0U1RPR8, A0A7N9VSG0, D3ZGQ5, D3ZHP7, O08644, O09127, O15197, O43542, O73875, O73878, O75676, P0C0K6, P0C0K7, P21709, P23800, P29317, P29322, P41243, P51839, P51840, P52785, P54753, P54754, P54760, P54761, P55203, P57078, P97343, Q1KL86, Q3U3Q1, Q4V7Q6, Q5RCY1, Q5ZJH6, Q60750, Q62270, Q63285, Q6PHR2, Q7ZZC8, Q80YD6, Q86SG6
Diamond homologs: A0A0A0LLY1, A0A0D1C8Z4, A0A0R4IEW8, A7EWN6, B0BN49, B5DF91, C0HFE5, D3Z4I3, M0R7T6, O09032, O22703, O23212, O35698, O43040, O74978, O94290, P19684, P25299, P26368, P26369, P26378, P33240, P48810, P49311, P70372, P90727, P90978, P97343, P98179, Q00916, Q03250, Q03878, Q05966, Q08473, Q08935, Q08E07, Q10B98, Q12926, Q13595, Q14576
SIGNOR signaling
12 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| UHMK1 | down-regulates | MBP | phosphorylation |
| UHMK1 | up-regulates | SF1 | phosphorylation |
| UHMK1 | down-regulates | STMN1 | phosphorylation |
| UHMK1 | up-regulates | PIMREG | phosphorylation |
| UHMK1 | unknown | PAM | phosphorylation |
| UHMK1 | up-regulates | CDKN1B | phosphorylation |
| UHMK1 | unknown | SYN1 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
66 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 47 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 224812 | NM_175866.5(UHMK1):c.1214C>T (p.Pro405Leu) | Likely pathogenic |
SpliceAI
1455 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:162499953:A:AG | acceptor_gain | 1.0000 |
| 1:162499954:G:GA | acceptor_gain | 1.0000 |
| 1:162499954:GT:G | acceptor_gain | 1.0000 |
| 1:162500245:CAGGT:C | donor_loss | 1.0000 |
| 1:162500246:AGG:A | donor_loss | 1.0000 |
| 1:162500247:GGTA:G | donor_loss | 1.0000 |
| 1:162500248:G:GG | donor_gain | 1.0000 |
| 1:162500248:GTA:G | donor_loss | 1.0000 |
| 1:162500249:T:A | donor_loss | 1.0000 |
| 1:162500912:GGAT:G | acceptor_gain | 1.0000 |
| 1:162503751:A:AG | acceptor_gain | 1.0000 |
| 1:162503751:AAG:A | acceptor_gain | 1.0000 |
| 1:162503752:A:G | acceptor_gain | 1.0000 |
| 1:162512497:TA:T | acceptor_loss | 1.0000 |
| 1:162512498:A:AG | acceptor_gain | 1.0000 |
| 1:162512498:AG:A | acceptor_loss | 1.0000 |
| 1:162512498:AGCAT:A | acceptor_gain | 1.0000 |
| 1:162512499:G:A | acceptor_loss | 1.0000 |
| 1:162512499:G:GT | acceptor_gain | 1.0000 |
| 1:162512499:GC:G | acceptor_gain | 1.0000 |
| 1:162512499:GCA:G | acceptor_gain | 1.0000 |
| 1:162512499:GCAT:G | acceptor_gain | 1.0000 |
| 1:162512499:GCATG:G | acceptor_gain | 1.0000 |
| 1:162512574:TTGGT:T | donor_loss | 1.0000 |
| 1:162512575:TGGT:T | donor_loss | 1.0000 |
| 1:162512577:G:A | donor_loss | 1.0000 |
| 1:162512577:G:GG | donor_gain | 1.0000 |
| 1:162512578:TAA:T | donor_loss | 1.0000 |
| 1:162512723:A:AG | acceptor_gain | 1.0000 |
| 1:162512724:G:GG | acceptor_gain | 1.0000 |
AlphaMissense
2742 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:162498162:G:C | K54N | 1.000 |
| 1:162498162:G:T | K54N | 1.000 |
| 1:162500159:A:G | D158G | 1.000 |
| 1:162500159:A:T | D158V | 1.000 |
| 1:162500182:T:A | W166R | 1.000 |
| 1:162500182:T:C | W166R | 1.000 |
| 1:162500216:A:C | D177A | 1.000 |
| 1:162500216:A:T | D177V | 1.000 |
| 1:162500217:C:A | D177E | 1.000 |
| 1:162500217:C:G | D177E | 1.000 |
| 1:162512767:T:C | L323P | 1.000 |
| 1:162522411:T:A | V374D | 1.000 |
| 1:162500021:A:T | E112V | 0.999 |
| 1:162500150:T:A | V155D | 0.999 |
| 1:162500152:C:G | H156D | 0.999 |
| 1:162500155:G:C | A157P | 0.999 |
| 1:162500159:A:C | D158A | 0.999 |
| 1:162500160:C:A | D158E | 0.999 |
| 1:162500160:C:G | D158E | 0.999 |
| 1:162500162:T:A | L159H | 0.999 |
| 1:162500164:A:G | K160E | 0.999 |
| 1:162500166:A:C | K160N | 0.999 |
| 1:162500166:A:T | K160N | 0.999 |
| 1:162500173:A:G | N163D | 0.999 |
| 1:162500175:C:A | N163K | 0.999 |
| 1:162500175:C:G | N163K | 0.999 |
| 1:162500177:T:A | I164K | 0.999 |
| 1:162500210:T:A | L175H | 0.999 |
| 1:162500215:G:C | D177H | 0.999 |
| 1:162500216:A:G | D177G | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000016631 (1:162513544 A>G), RS1000075882 (1:162507354 G>A), RS1000325456 (1:162513261 T>A,C), RS1000371584 (1:162528400 A>C,G), RS1000446593 (1:162528694 GTAGAT>G), RS1000487701 (1:162497849 A>C,G,T), RS1000558355 (1:162515535 C>T), RS1000598810 (1:162521602 C>G), RS1000807438 (1:162502994 A>G), RS1000859978 (1:162503199 A>G), RS1001024955 (1:162521909 G>A), RS1001127232 (1:162526241 A>G,T), RS1001143728 (1:162509206 T>G), RS1001225283 (1:162518450 C>G), RS1001306355 (1:162499989 T>C)
Disease associations
OMIM: gene MIM:608849 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003437_1 | Discordance in emotional problems in monozygotic twins | 2.000000e-07 |
| GCST003611_1 | Bone mineral density (total hip) | 3.000000e-06 |
| GCST003612_1 | Bone mineral density (femoral neck) | 4.000000e-07 |
| GCST006575_29 | Takayasu arteritis | 2.000000e-07 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007803 | emotional symptom measurement |
| EFO:0007702 | hip bone mineral density |
| EFO:0007785 | femoral neck bone mineral density |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — Other-unique family
CTD chemical–gene interactions
44 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | affects cotreatment, decreases expression, increases expression | 3 |
| trichostatin A | affects cotreatment, decreases expression | 2 |
| geldanamycin | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases oxidation, increases abundance | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| arsenite | decreases reaction, affects binding | 1 |
| sodium arsenite | increases expression | 1 |
| ferrous chloride | increases expression | 1 |
| cupric oxide | increases expression | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases oxidation, increases abundance | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Vorinostat | decreases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Norethindrone Acetate | affects cotreatment, decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Acrolein | affects cotreatment, decreases expression, increases oxidation, increases abundance | 1 |
| Air Pollutants | affects cotreatment, decreases expression, increases abundance, increases oxidation | 1 |
| Azacitidine | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Coumestrol | decreases expression | 1 |
| Mercuric Chloride | decreases expression | 1 |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2KE | Abcam HeLa UHMK1 KO | Cancer cell line | Female |
| CVCL_TW26 | HAP1 UHMK1 (-) 1 | Cancer cell line | Male |
| CVCL_TW27 | HAP1 UHMK1 (-) 2 | Cancer cell line | Male |
| CVCL_TW28 | HAP1 UHMK1 (-) 3 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Takayasu arteritis