Free for academic non-profit institutions. Other users need a Commercial license

Aliases for UHMK1 Gene

Aliases for UHMK1 Gene

  • U2AF Homology Motif Kinase 1 2 3 4 5
  • PAM COOH-Terminal Interactor Protein 2 3 4
  • U2AF Homology Motif (UHM) Kinase 1 2 3
  • P-CIP2 3 4
  • KIST 3 4
  • KIS 3 4
  • Kinase Interacting With Leukemia-Associated Gene (Stathmin) 3
  • Serine/Threonine-Protein Kinase Kist 3
  • Kinase Interacting With Stathmin 4
  • KIS Protein Kinase 3
  • EC 2.7.11.1 4

External Ids for UHMK1 Gene

Previous GeneCards Identifiers for UHMK1 Gene

  • GC01P159200
  • GC01P160734
  • GC01P133712

Summaries for UHMK1 Gene

Entrez Gene Summary for UHMK1 Gene

  • 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]

GeneCards Summary for UHMK1 Gene

UHMK1 (U2AF Homology Motif Kinase 1) is a Protein Coding gene. Diseases associated with UHMK1 include Median Arcuate Ligament Syndrome and Dracunculiasis. Among its related pathways are GPCR Pathway. GO annotations related to this gene include nucleic acid binding and transferase activity, transferring phosphorus-containing groups. An important paralog of this gene is U2AF2.

UniProtKB/Swiss-Prot for UHMK1 Gene

  • 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).

Gene Wiki entry for UHMK1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UHMK1 Gene

Genomics for UHMK1 Gene

Regulatory Elements for UHMK1 Gene

Enhancers for UHMK1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F162536 1.2 FANTOM5 Ensembl ENCODE 27.8 +41.1 41124 4.4 JUN CEBPB EP300 POLR2H GTF3C2 JUND ATF3 POLR3A SCRT2 STAT3 UHMK1 ATF6 SH2D1B UAP1 UQCRBP2 GC01P162525
GH01F162529 0.8 Ensembl ENCODE 22.8 +33.5 33518 1.4 PKNOX1 ATF3 HMBOX1 TBX21 SPI1 UHMK1 UAP1 GC01P162525 UQCRBP2
GH01F162497 1 ENCODE 13.2 +1.1 1146 2.5 ATF1 ARNT ARID4B SIN3A DMAP1 ZNF48 ZNF2 YY1 ELK1 ZNF207 UHMK1 HSPA7 LOC105371497 GC01P162525
GH01F162540 1.2 FANTOM5 Ensembl ENCODE 10.9 +44.9 44853 2.1 JUND JUN CEBPB SIN3A YBX1 UHMK1 HSPA7 UAP1 UQCRBP2 GC01M162560
GH01F162628 1.2 FANTOM5 ENCODE 9.9 +135.2 135239 6.8 HDGF TBP SIN3A RAD21 ZBTB40 ZNF366 SCRT2 ETV6 FOS ZMIZ1 UHMK1 SH2D1B DDR2 RN7SL861P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UHMK1 on UCSC Golden Path with GeneCards custom track

Promoters for UHMK1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000080648 1426 2801 ATF1 ARNT ARID4B SIN3A ZNF48 ZNF2 YY1 ELK1 ZNF207 KDM4B

Genomic Location for UHMK1 Gene

Chromosome:
1
Start:
162,497,174 bp from pter
End:
162,529,629 bp from pter
Size:
32,456 bases
Orientation:
Plus strand

Genomic View for UHMK1 Gene

Genes around UHMK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UHMK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UHMK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UHMK1 Gene

Proteins for UHMK1 Gene

  • Protein details for UHMK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TAS1-UHMK1_HUMAN
    Recommended name:
    Serine/threonine-protein kinase Kist
    Protein Accession:
    Q8TAS1
    Secondary Accessions:
    • A0A0A6YYC2
    • A8K8K4
    • G3V1M1
    • Q96C22

    Protein attributes for UHMK1 Gene

    Size:
    419 amino acids
    Molecular mass:
    46546 Da
    Quaternary structure:
    • Interacts with stathmin and CDKN1B/p27Kip1 (By similarity). Interacts with PAM.

    Alternative splice isoforms for UHMK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UHMK1 Gene

Post-translational modifications for UHMK1 Gene

  • Ubiquitination at Lys 183, Lys 383, and Lys 397
  • Modification sites at PhosphoSitePlus

Other Protein References for UHMK1 Gene

No data available for DME Specific Peptides for UHMK1 Gene

Domains & Families for UHMK1 Gene

Gene Families for UHMK1 Gene

Suggested Antigen Peptide Sequences for UHMK1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TAS1

UniProtKB/Swiss-Prot:

UHMK1_HUMAN :
  • Contains 1 protein kinase domain.
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
Domain:
  • Contains 1 protein kinase domain.
  • Contains 1 RRM (RNA recognition motif) domain.
Family:
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
genes like me logo Genes that share domains with UHMK1: view

Function for UHMK1 Gene

Molecular function for UHMK1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot 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).

Enzyme Numbers (IUBMB) for UHMK1 Gene

Gene Ontology (GO) - Molecular Function for UHMK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA --
GO:0003729 mRNA binding IBA --
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IDA 12093740
genes like me logo Genes that share ontologies with UHMK1: view
genes like me logo Genes that share phenotypes with UHMK1: view

Animal Models for UHMK1 Gene

MGI Knock Outs for UHMK1:

Animal Model Products

  • Taconic Biosciences Mouse Models for UHMK1

miRNA for UHMK1 Gene

miRTarBase miRNAs that target UHMK1

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UHMK1 Gene

Localization for UHMK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UHMK1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UHMK1 gene
Compartment Confidence
nucleus 5
golgi apparatus 4
cytosol 3
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for UHMK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 12093740
GO:0030424 axon ISS --
GO:0032839 dendrite cytoplasm ISS --
GO:0035145 exon-exon junction complex IBA --
GO:0035770 ribonucleoprotein granule IBA --
genes like me logo Genes that share ontologies with UHMK1: view

Pathways & Interactions for UHMK1 Gene

SuperPathways for UHMK1 Gene

SuperPathway Contained pathways
1 GPCR Pathway
genes like me logo Genes that share pathways with UHMK1: view

Pathways by source for UHMK1 Gene

1 Qiagen pathway for UHMK1 Gene

SIGNOR curated interactions for UHMK1 Gene

Activates:
Inactivates:
Other effect:

Gene Ontology (GO) - Biological Process for UHMK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IBA --
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IBA --
GO:0006468 protein phosphorylation IEA --
GO:0007050 cell cycle arrest IMP 12093740
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with UHMK1: view

Transcripts for UHMK1 Gene

Unigene Clusters for UHMK1 Gene

U2AF homology motif (UHM) kinase 1:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for UHMK1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1: - -
SP2:
SP3: -

Relevant External Links for UHMK1 Gene

GeneLoc Exon Structure for
UHMK1
ECgene alternative splicing isoforms for
UHMK1

Expression for UHMK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UHMK1 Gene

Protein differential expression in normal tissues from HIPED for UHMK1 Gene

This gene is overexpressed in Breast (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for UHMK1 Gene



Protein tissue co-expression partners for UHMK1 Gene

NURSA nuclear receptor signaling pathways regulating expression of UHMK1 Gene:

UHMK1

SOURCE GeneReport for Unigene cluster for UHMK1 Gene:

Hs.127310

mRNA Expression by UniProt/SwissProt for UHMK1 Gene:

Q8TAS1-UHMK1_HUMAN
Tissue specificity: Widely expressed, with highest levels in skeletal muscle, kidney, placenta and peripheral blood leukocytes.
genes like me logo Genes that share expression patterns with UHMK1: view

Primer Products

No data available for mRNA differential expression in normal tissues for UHMK1 Gene

Orthologs for UHMK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for UHMK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UHMK1 34 35
  • 99.68 (n)
cow
(Bos Taurus)
Mammalia UHMK1 34 35
  • 95.94 (n)
dog
(Canis familiaris)
Mammalia UHMK1 34 35
  • 95.78 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 94 (a)
OneToMany
-- 35
  • 90 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Uhmk1 34 16 35
  • 93 (n)
rat
(Rattus norvegicus)
Mammalia Uhmk1 34
  • 92.6 (n)
chicken
(Gallus gallus)
Aves UHMK1 34 35
  • 81.62 (n)
lizard
(Anolis carolinensis)
Reptilia UHMK1 35
  • 77 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii uhmk1 34 35
  • 69.38 (n)
fruit fly
(Drosophila melanogaster)
Insecta LS2 35
  • 18 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea uaf-1 35
  • 17 (a)
OneToOne
Species where no ortholog for UHMK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for UHMK1 Gene

ENSEMBL:
Gene Tree for UHMK1 (if available)
TreeFam:
Gene Tree for UHMK1 (if available)

Paralogs for UHMK1 Gene

Paralogs for UHMK1 Gene

(1) SIMAP similar genes for UHMK1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with UHMK1: view

Variants for UHMK1 Gene

Sequence variations from dbSNP and Humsavar for UHMK1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs869312863 Likely pathogenic 162,522,504(+) CTACC(C/T)GCTGA reference, missense, utr-variant-3-prime
rs10127505 -- 162,509,732(+) cgcct(C/T)ccagg intron-variant
rs10128062 -- 162,507,593(+) TTTTT(C/T)TTTTT intron-variant
rs10158479 -- 162,524,455(+) TTCAA(A/G)TCAGA utr-variant-3-prime
rs1045901 -- 162,529,156(+) TCTGT(A/G)ACATT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for UHMK1 Gene

Variant ID Type Subtype PubMed ID
nsv946473 CNV duplication 23825009
nsv516482 CNV gain+loss 19592680
nsv159160 CNV deletion 16902084
esv2758973 CNV gain 17122850

Variation tolerance for UHMK1 Gene

Residual Variation Intolerance Score: 17.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.92; 19.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UHMK1 Gene

Human Gene Mutation Database (HGMD)
UHMK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UHMK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UHMK1 Gene

Disorders for UHMK1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for UHMK1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
median arcuate ligament syndrome
  • celiac artery compression syndrome
dracunculiasis
  • dracontiasis
maxillary sinus cancer
  • malignant neoplasm of antrum
paranasal sinus cancer
  • adenoid cystic carcinoma of accessory sinus
schizophrenia
  • schizophrenia 12
- elite association - COSMIC cancer census association via MalaCards
Search UHMK1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for UHMK1

Genetic Association Database (GAD)
UHMK1
Human Genome Epidemiology (HuGE) Navigator
UHMK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UHMK1
genes like me logo Genes that share disorders with UHMK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UHMK1 Gene

Publications for UHMK1 Gene

  1. Quantitative RT-PCR reveals a ubiquitous but preferentially neural expression of the KIS gene in rat and human. (PMID: 12782393) Bieche I. … Maucuer A. (Brain Res. Mol. Brain Res. 2003) 2 3 4 22 64
  2. Expression of kinase interacting with stathmin (KIS, UHMK1) in human brain and lymphoblasts: Effects of schizophrenia and genotype. (PMID: 19747464) Bristow G.C. … Eastwood S.L. (Brain Res. 2009) 3 22 46 64
  3. Confirmation of the genetic association between the U2AF homology motif (UHM) kinase 1 (UHMK1) gene and schizophrenia on chromosome 1q23.3. (PMID: 18414510) Puri V. … Gurling H. (Eur. J. Hum. Genet. 2008) 3 22 46 64
  4. A growth factor-dependent nuclear kinase phosphorylates p27(Kip1) and regulates cell cycle progression. (PMID: 12093740) Boehm M. … Nabel E.G. (EMBO J. 2002) 2 3 4 64
  5. The CATS (FAM64A) protein is a substrate of the kinase interacting stathmin (KIS). (PMID: 23419774) Archangelo L.F. … Saad S.T. (Biochim. Biophys. Acta 2013) 3 4 64

Products for UHMK1 Gene

Sources for UHMK1 Gene

Content
Loading form....