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

Summary

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
UHMK1 promotes gastric cancer progression through reprogramming nucleotide metabolism.
Title: UHMK1 promotes gastric cancer progression through reprogramming nucleotide metabolism.
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.
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.
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.
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).
The contribution of UHMK1 gene in schizophrenia susceptibility, was explored.
Title: Genetic and molecular exploration of UHMK1 in schizophrenic patients.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G20662 (e-PCR)
- UniSTS:11052

A006A40 (e-PCR)
- UniSTS:11053

RH64673 (e-PCR)
- UniSTS:39256

RH98846 (e-PCR)
- UniSTS:84392

D2S2902 (e-PCR)
- UniSTS:68801

RH68936 (e-PCR)
- UniSTS:24788

KIS_3707 (e-PCR)
- UniSTS:462298

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

EC 2.7.11.1

NP_653225.2

EC 2.7.11.1

NP_787062.1

EC 2.7.11.1

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

NG_050728.1 RefSeqGene

Range

5645..37458

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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