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

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Summary

Official Symbol: UHMK1provided by HGNC
Official Full Name: U2AF homology motif (UHM) kinase 1provided by HGNC
Primary source: HGNC:19683
See related: Ensembl:ENSG00000152332; HPRD:12318; MIM:608849; Vega:OTTHUMG00000031373
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; FLJ23015; DKFZp434C1613
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]

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Genomic context

Location :: 1q23.3

Sequence :: Chromosome: 1; NC_000001.10 (162466964..162499419)

See UHMK1 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.
The association between UHMK1 and schizophrenia is confirmed.
Title: Confirmation of the genetic association between the U2AF homology motif (UHM) kinase 1 (UHMK1) gene and schizophrenia on chromosome 1q23.3.
Overexpression of KIS protein kinase is associated with acute myelogenous leukemia, myelodysplastic syndrome and acute lymphoblastic leukemia
Title: KIS induces proliferation and the cell cycle progression through the phosphorylation of p27Kip1 in leukemia cells.
Results show that KIS is a direct transcriptional target of FoxM1.
Title: FoxM1 regulates growth factor-induced expression of kinase-interacting stathmin (KIS) to promote cell cycle progression.
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.
Title: Confirmation of the genetic association between the U2AF homology motif (UHM) kinase 1 (UHMK1) gene and schizophrenia on chromosome 1q23.3.
Observational study of gene-disease association. (HuGE Navigator)
Title: Expression of kinase interacting with stathmin (KIS, UHMK1) in human brain and lymphoblasts: Effects of schizophrenia and genotype.
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
Title: GA-binding protein regulates KIS gene expression, cell migration, and cell cycle progression.
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.
Title: A growth factor-dependent nuclear kinase phosphorylates p27(Kip1) and regulates cell cycle progression.
These results provide preliminary evidence that the UHMK1 gene increases susceptibility to schizophrenia. Further confirmation in adequately powered samples is needed.
Title: Fine mapping by genetic association implicates the chromosome 1q23.3 gene UHMK1, encoding a serine/threonine protein kinase, as a novel schizophrenia susceptibility gene.

Submit: New GeneRIF Correction See all (12)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
Q8TAS1	P19021	PAM	HPRD	PubMed
Q8TAS1	P16949	STMN1	HPRD	PubMed
BioGRID:126088	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
ATP binding	IC Inferred by Curator more info	PubMed
RNA binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
ribonucleoprotein complex binding	ISS Inferred from Sequence or Structural Similarity more info
transferase activity	IC Inferred by Curator more info	PubMed

Process	Evidence Code	Pubs
cell cycle arrest	IMP Inferred from Mutant Phenotype more info	PubMed
neuron projection development	ISS Inferred from Sequence or Structural Similarity more info
peptidyl-serine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
peptidyl-serine phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of translational initiation	ISS Inferred from Sequence or Structural Similarity more info
protein autophosphorylation	IDA Inferred from Direct Assay more info	PubMed
regulation of protein export from nucleus	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
axon	ISS Inferred from Sequence or Structural Similarity more info
cytoplasm	IEA Inferred from Electronic Annotation more info
dendrite cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
neuronal ribonucleoprotein granule	ISS Inferred from Sequence or Structural Similarity more info
nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: serine/threonine-protein kinase Kist

Names: serine/threonine-protein kinase Kist; KIS protein kinase; 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

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NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

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

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

G3V1M1

Related

ENSP00000441226, ENST00000545294

Conserved Domains (2) summary

cd00590
Location:277 – 329
Blast Score: 112

RRM; RRM (RNA recognition motif), also known as RBD (RNA binding domain) or RNP (ribonucleoprotein domain), is a highly abundant domain in eukaryotes found in proteins involved in post-transcriptional gene expression processes including mRNA and rRNA ...

cd00180
Location:16 – 228
Blast Score: 288

PKc; Catalytic domain of Protein Kinases
NM_144624.2 → NP_653225.2 serine/threonine-protein kinase Kist isoform 3

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/Swiss-Prot

Q8TAS1

Related

ENSP00000446416, ENST00000538489

Conserved Domains (2) summary

cd00180
Location:29 – 302
Blast Score: 365

PKc; Catalytic domain of Protein Kinases

pfam00069
Location:23 – 304
Blast Score: 368

Pkinase; Protein kinase domain
NM_175866.4 → NP_787062.1 serine/threonine-protein kinase Kist isoform 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

Q8TAS1

Related

ENSP00000420270, OTTHUMP00000029529, ENST00000489294, OTTHUMT00000076788

Conserved Domains (3) summary

cd00590
Location:351 – 403
Blast Score: 115

RRM; RRM (RNA recognition motif), also known as RBD (RNA binding domain) or RNP (ribonucleoprotein domain), is a highly abundant domain in eukaryotes found in proteins involved in post-transcriptional gene expression processes including mRNA and rRNA ...

cd00180
Location:29 – 302
Blast Score: 366

PKc; Catalytic domain of Protein Kinases

pfam00069
Location:23 – 304
Blast Score: 370

Pkinase; Protein kinase domain

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

162466964..162499419

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

133712524..133744495

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL359699.12	CAH70392.1
genomic	CH471067.1	EAW90706.1
		EAW90707.1
		EAW90708.1
		EAW90709.1
genomic	CS300608.1	CAK32272.1
mRNA	AJ536197.1	CAD60192.1
mRNA	AK026668.1	None
mRNA	AK058195.1	None
mRNA	AK292369.1	BAF85058.1
mRNA	AL137257.1	None
mRNA	BC001977.1	None
mRNA	BC014917.1	AAH14917.1
mRNA	BC026046.1	AAH26046.1
mRNA	BC043436.2	None
mRNA	AL834136.1	CAI46199.1
other-genetic	AB384827.1	BAG10683.1