Gene Gene information from NCBI Gene database.
Entrez ID 127933
Gene name U2AF homology motif kinase 1
Gene symbol UHMK1
Synonyms (NCBI Gene)
KISKISTP-CIP2
Chromosome 1
Chromosome location 1q23.3
Summary 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 t
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs869312863 C>T Likely-pathogenic Missense variant, coding sequence variant, 3 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
1540
miRTarBase ID miRNA Experiments Reference
MIRT004890 hsa-miR-124-3p Microarray 15685193
MIRT017233 hsa-miR-335-5p Microarray 18185580
MIRT019310 hsa-miR-148b-3p Microarray 17612493
MIRT021385 hsa-miR-9-5p Microarray 17612493
MIRT004890 hsa-miR-124-3p Microarray 18668037
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608849 19683 ENSG00000152332
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TAS1
Protein name Serine/threonine-protein kinase Kist (EC 2.7.11.1) (Kinase interacting with stathmin) (PAM COOH-terminal interactor protein 2) (P-CIP2) (U2AF homology motif kinase 1)
Protein 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 (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 23 304 Protein kinase domain Domain
PF00076 RRM_1 344 400 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with highest levels in skeletal muscle, kidney, placenta and peripheral blood leukocytes. {ECO:0000269|PubMed:12093740}.
Sequence
Sequence length 419
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Estrogen-dependent nuclear events downstream of ESR-membrane signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cerebral visual impairment and intellectual disability Likely pathogenic rs869312863 RCV000210385
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CERVICAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 18384876
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 18384876
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 29660218
★☆☆☆☆
Found in Text Mining only
Becker Muscular Dystrophy Becker Muscular Dystrophy BEFREE 27424934
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 31569420
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 21045138
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 35501324 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 29660218 Associate
★☆☆☆☆
Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia Lymphoblastic Leukemia BEFREE 18384876
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 35501324 Stimulate
★☆☆☆☆
Found in Text Mining only