• Gene id: 127933

Gene Summary

• Gene Symbol: UHMK1   Gene   UCSC   Ensembl
• Aliases: KIS, KIST, P-CIP2
• Gene name: U2AF homology motif kinase 1
• Alternate names: serine/threonine-protein kinase Kist, KIS protein kinase, PAM COOH-terminal interactor protein 2, U2AF homology motif (UHM) kinase 1, kinase interacting with leukemia-associated gene (stathmin),
• Gene location: 1q23.3 (162497173: 162529630)     Exons: 9     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 608849

Protein Summary

• Protein general information: Q8TAS1  
  • 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)
  • Length: 419  
  • Mass: 46546
  • Tissue specificity: Widely expressed, with highest levels in skeletal muscle, kidney, placenta and peripheral blood leukocytes. {ECO
• Sequence:

  MAGSGCAWGAEPPRFLEAFGRLWQVQSRLGSGSSASVYRVRCCGNPGSPPGALKQFLPPGTTGAAASAAEYGFRK
  ERAALEQLQGHRNIVTLYGVFTIHFSPNVPSRCLLLELLDVSVSELLLYSSHQGCSMWMIQHCARDVLEALAFLH
  HEGYVHADLKPRNILWSAENECFKLIDFGLSFKEGNQDVKYIQTDGYRAPEAELQNCLAQAGLQSDTECTSAVDL
  WSLGIILLEMFSGMKLKHTVRSQEWKANSSAIIDHIFASKAVVNAAIPAYHLRDLIKSMLHDDPSRRIPAEMALC
  SPFFSIPFAPHIEDLVMLPTPVLRLLNVLDDDYLENEEEYEDVVEDVKEECQKYGPVVSLLVPKENPGRGQVFVE
  YANAGDSKAAQKLLTGRMFDGKFVVATFYPLSAYKRGYLYQTLL

• Structural information:
  • Protein Domains: (23..30-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159,-ECO:0000305)
    (324..40-)
    (/note="RRM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176,-ECO:0000305")
  • Interpro: IPR011009  IPR012677  IPR000719  IPR035979  IPR000504   IPR034372  IPR034371  
  • Prosite: PS50011 PS50102
  • CDD: cd12465
  • STRING: ENSP00000420270
• Other Databases: GeneCards:  UHMK1  Malacards:  UHMK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016740	transferase activity	IC	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0005524	ATP binding	IC	molecular function
GO:0007050	cell cycle arrest	IMP	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0018105	peptidyl-serine phosphorylation	IDA	biological process
GO:0046825	regulation of protein export from nucleus	IDA	biological process
GO:0007050	cell cycle arrest	IBA	biological process
GO:0018105	peptidyl-serine phosphorylation	IBA	biological process
GO:0046825	regulation of protein export from nucleus	IBA	biological process
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0043021	ribonucleoprotein complex binding	IBA	molecular function
GO:0045948	positive regulation of translational initiation	IBA	biological process
GO:0071598	neuronal ribonucleoprotein granule	IBA	cellular component
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031175	neuron projection development	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0071598	neuronal ribonucleoprotein granule	IEA	cellular component
GO:0045948	positive regulation of translational initiation	IEA	biological process
GO:0043021	ribonucleoprotein complex binding	IEA	molecular function
GO:0032839	dendrite cytoplasm	IEA	cellular component
GO:0043021	ribonucleoprotein complex binding	ISS	molecular function
GO:0030424	axon	ISS	cellular component
GO:0031175	neuron projection development	ISS	biological process
GO:0032839	dendrite cytoplasm	ISS	cellular component
GO:0045948	positive regulation of translational initiation	ISS	biological process
GO:0071598	neuronal ribonucleoprotein granule	ISS	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0030496	midbody	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0018105	peptidyl-serine phosphorylation	ISS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R