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UHMK1 U2AF homology motif kinase 1 [ Homo sapiens (human) ]

Gene ID: 127933, updated on 5-Mar-2024

Summary

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Official Symbol
UHMK1provided by HGNC
Official Full Name
U2AF homology motif kinase 1provided by HGNC
Primary source
HGNC:HGNC:19683
See related
Ensembl:ENSG00000152332 MIM:608849; AllianceGenome:HGNC:19683
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KIS; KIST; P-CIP2
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 to function in the adult nervous system and the gene has been associated with schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Expression
Ubiquitous expression in kidney (RPKM 18.6), lymph node (RPKM 18.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
1q23.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (162497174..162529631)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (161841193..161873634)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (162466964..162499421)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene SH2 domain containing 1B Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:162389320-162390519 Neighboring gene SLAM family member 6 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:162434898-162435502 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:162435503-162436105 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:162467344-162467844 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:162467845-162468345 Neighboring gene ubiquinol-cytochrome c reductase binding protein pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1493 Neighboring gene UAP1 divergent transcript

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. UHMK1 promotes lung adenocarcinoma oncogenesis by regulating the PI3K/AKT/mTOR signaling pathway. Li Y, et al. Thorac Cancer, 2023 Apr. PMID 36919755, Free PMC Article
  2. UHMK1 aids colorectal cancer cell proliferation and chemoresistance through augmenting IL-6/STAT3 signaling. Gao X, et al. Cell Death Dis, 2022 May 2. PMID 35501324, Free PMC Article
  3. UHMK1-dependent phosphorylation of Cajal body protein coilin alters 5-FU sensitivity in colon cancer cells. Niu H, et al. Cell Commun Signal, 2022 Feb 12. PMID 35151311, Free PMC Article
  4. The U2AF homology motif kinase 1 (UHMK1) is upregulated upon hematopoietic cell differentiation. Barbutti I, et al. Biochim Biophys Acta Mol Basis Dis, 2018 Mar. PMID 29307747
  5. Genome-wide association study in East Asians suggests UHMK1 as a novel bone mineral density susceptibility gene. Choi HJ, et al. Bone, 2016 Oct. PMID 27424934

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. UHMK1 promotes lung adenocarcinoma oncogenesis by regulating the PI3K/AKT/mTOR signaling pathway.
    Title: UHMK1 promotes lung adenocarcinoma oncogenesis by regulating the PI3K/AKT/mTOR signaling pathway.
  2. UHMK1 aids colorectal cancer cell proliferation and chemoresistance through augmenting IL-6/STAT3 signaling.
    Title: UHMK1 aids colorectal cancer cell proliferation and chemoresistance through augmenting IL-6/STAT3 signaling.
  3. UHMK1-dependent phosphorylation of Cajal body protein coilin alters 5-FU sensitivity in colon cancer cells.
    Title: UHMK1-dependent phosphorylation of Cajal body protein coilin alters 5-FU sensitivity in colon cancer cells.
  4. UHMK1 promotes gastric cancer progression through reprogramming nucleotide metabolism.
    Title: UHMK1 promotes gastric cancer progression through reprogramming nucleotide metabolism.
  5. provide a model by which YAP supports cell proliferation through the induction of important cell cycle regulators in a UHMK1- and MYBL2-dependent manner
    Title: YAP-dependent induction of UHMK1 supports nuclear enrichment of the oncogene MYBL2 and proliferation in liver cancer cells.
  6. UHMK1 plays a role in hematopoietic cell differentiation and suppression of autonomous clonal growth of leukemia cells.
    Title: The U2AF homology motif kinase 1 (UHMK1) is upregulated upon hematopoietic cell differentiation.
  7. genome-wide association study identified the UHMK1 gene as a novel bone mineral density locus specific to East Asians.
    Title: Genome-wide association study in East Asians suggests UHMK1 as a novel bone mineral density susceptibility gene.
  8. 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
    Title: The CATS (FAM64A) protein is a substrate of the Kinase Interacting Stathmin (KIS).
  9. The contribution of UHMK1 gene in schizophrenia susceptibility, was explored.
    Title: Genetic and molecular exploration of UHMK1 in schizophrenic patients.
  10. 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.
    Title: Expression of kinase interacting with stathmin (KIS, UHMK1) in human brain and lymphoblasts: Effects of schizophrenia and genotype.
Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ23015, DKFZp434C1613

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IC
Inferred by Curator
more info
 PubMed 
enables RNA binding IEA
Inferred from Electronic Annotation
more info
  
enables enzyme binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein serine/threonine kinase activity TAS
Traceable Author Statement
more info
  
enables ribonucleoprotein complex binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ribonucleoprotein complex binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables splicing factor binding IEA
Inferred from Electronic Annotation
more info
  
enables transferase activity IC
Inferred by Curator
more info
 PubMed 
Process Evidence Code Pubs
involved_in neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in peptidyl-serine phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in peptidyl-serine phosphorylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in peptidyl-serine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of translational initiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of translational initiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein autophosphorylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of cell cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of protein export from nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of protein export from nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in axon ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in dendrite cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
is_active_in neuronal ribonucleoprotein granule IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in neuronal ribonucleoprotein granule ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nuclear speck IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
serine/threonine-protein kinase Kist
Names
KIS protein kinase
PAM COOH-terminal interactor protein 2
U2AF homology motif (UHM) kinase 1
kinase interacting with leukemia-associated gene (stathmin)
NP_001171692.1
NP_653225.2
NP_787062.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_050728.1 RefSeqGene

    Range
    5645..37458
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001184763.1 → NP_001171692.1  serine/threonine-protein kinase Kist isoform 2

    See identical proteins and their annotated locations for NP_001171692.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK058195, AL359699
    Consensus CDS
    CCDS53423.1
    UniProtKB/TrEMBL
    Q5JPA7
    Related
    ENSP00000441226.1, ENST00000545294.5
    Conserved Domains (2) summary
    cd12465
    Location:244 → 331
    RRM_UHMK1; RNA recognition motif found in U2AF homology motif kinase 1 (UHMK1) and similar proteins
    cl21453
    Location:16 → 234
    PKc_like; Protein Kinases, catalytic domain

  2. NM_144624.2 → NP_653225.2  serine/threonine-protein kinase Kist isoform 3

    See identical proteins and their annotated locations for NP_653225.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded protein (isoform 3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL359699, BC026046
    Consensus CDS
    CCDS53424.1
    UniProtKB/TrEMBL
    Q5JPA7
    Related
    ENSP00000446416.1, ENST00000538489.5
    Conserved Domains (2) summary
    cd14020
    Location:22 → 308
    STKc_KIS; Catalytic domain of the Serine/Threonine Kinase, Kinase Interacting with Stathmin (also called U2AF homology motif (UHM) kinase 1)
    cl17169
    Location:318 → 341
    RRM_SF; RNA recognition motif (RRM) superfamily

  3. NM_175866.5 → NP_787062.1  serine/threonine-protein kinase Kist isoform 1

    See identical proteins and their annotated locations for NP_787062.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AJ536197, AL359699
    Consensus CDS
    CCDS1239.1
    UniProtKB/Swiss-Prot
    A0A0A6YYC2, A8K8K4, G3V1M1, Q8TAS1, Q96C22
    UniProtKB/TrEMBL
    Q5JPA7
    Related
    ENSP00000420270.1, ENST00000489294.2
    Conserved Domains (2) summary
    cd14020
    Location:22 → 308
    STKc_KIS; Catalytic domain of the Serine/Threonine Kinase, Kinase Interacting with Stathmin (also called U2AF homology motif (UHM) kinase 1)
    cl17169
    Location:318 → 405
    RRM_SF; RNA recognition motif (RRM) superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    162497174..162529631
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    161841193..161873634
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TAS1.2 GenPept UniProtKB/Swiss-Prot:Q8TAS1

Gene LinkOut

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