• Gene id: 25778

Gene Summary

• Gene Symbol: DSTYK   Gene   UCSC   Ensembl
• Aliases: CAKUT1, DustyPK, HDCMD38P, RIP5, RIPK5, SPG23
• Gene name: dual serine/threonine and tyrosine protein kinase
• Alternate names: dual serine/threonine and tyrosine protein kinase, RIP-homologous kinase, dusty PK, dusty protein kinase, receptor-interacting serine/threonine-protein kinase 5, sgK496, spastic paraplegia 23 (autosomal recessive), sugen kinase 496,
• Gene location: 1q32.1 (205211701: 205142496)     Exons: 14     NC_000001.11
• Gene summary(Entrez): This gene encodes a dual serine/threonine and tyrosine protein kinase which is expressed in multiple tissues. It is thought to function as a regulator of cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [
• OMIM: 612666

Protein Summary

• Protein general information: Q6XUX3  
  • Name: Dual serine/threonine and tyrosine protein kinase (EC 2.7.12.1) (Dusty protein kinase) (Dusty PK) (RIP homologous kinase) (Receptor interacting serine/threonine protein kinase 5) (Sugen kinase 496) (SgK496)
  • Length: 929  
  • Mass: 105206
  • Tissue specificity: Predominantly expressed in skeletal muscle and testis. Expressed in basolateral and apical membranes of all tubular epithelia. Expressed in thin ascending limb of the loop of Henle and the distal convoluted tubule. Expressed in all lay
• Sequence:

  MEGDGVPWGSEPVSGPGPGGGGMIRELCRGFGRYRRYLGRLRQNLRETQKFFRDIKCSHNHTCLSSLTGGGGAER
  GPAGDVAETGLQAGQLSCISFPPKEEKYLQQIVDCLPCILILGQDCNVKCQLLNLLLGVQVLPTTKLGSEESCKL
  RRLRFTYGTQTRVSLALPGQYELVHTLVAHQGNWETIPEEDLEVQENNEDAAHVLAELEVTMHHALLQEVDVVVA
  PCQGLRPTVDVLGDLVNDFLPVITYALHKDELSERDEQELQEIRKYFSFPVFFFKVPKLGSEIIDSSTRRMESER
  SPLYRQLIDLGYLSSSHWNCGAPGQDTKAQSMLVEQSEKLRHLSTFSHQVLQTRLVDAAKALNLVHCHCLDIFIN
  QAFDMQRDLQITPKRLEYTRKKENELYESLMNIANRKQEEMKDMIVETLNTMKEELLDDATNMEFKDVIVPENGE
  PVGTREIKCCIRQIQELIISRLNQAVANKLISSVDYLRESFVGTLERCLQSLEKSQDVSVHITSNYLKQILNAAY
  HVEVTFHSGSSVTRMLWEQIKQIIQRITWVSPPAITLEWKRKVAQEAIESLSASKLAKSICSQFRTRLNSSHEAF
  AASLRQLEAGHSGRLEKTEDLWLRVRKDHAPRLARLSLESCSLQDVLLHRKPKLGQELGRGQYGVVYLCDNWGGH
  FPCALKSVVPPDEKHWNDLALEFHYMRSLPKHERLVDLHGSVIDYNYGGGSSIAVLLIMERLHRDLYTGLKAGLT
  LETRLQIALDVVEGIRFLHSQGLVHRDIKLKNVLLDKQNRAKITDLGFCKPEAMMSGSIVGTPIHMAPELFTGKY
  DNSVDVYAFGILFWYICSGSVKLPEAFERCASKDHLWNNVRRGARPERLPVFDEECWQLMEACWDGDPLKRPLLG
  IVQPMLQGIMNRLCKSNSEQPNRGLDDST

• Structural information:
  • Protein Domains: (652..90-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR011009  IPR000719  IPR017441  IPR001245  IPR008271  
  • Prosite: PS00107 PS50011 PS00108
  • STRING: ENSP00000356130
• Other Databases: GeneCards:  DSTYK  Malacards:  DSTYK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0044344	cellular response to fibroblast growth factor stimulus	IDA	biological process
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0045743	positive regulation of fibroblast growth factor receptor signaling pathway	IMP	biological process
GO:0033674	positive regulation of kinase activity	IMP	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IMP	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004712	protein serine/threonine/tyrosine kinase activity	IEA	molecular function
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Congenital anomalies of kidney and urinary tract	KEGG:H01867
Hereditary spastic paraplegia	KEGG:H00266
Congenital anomalies of kidney and urinary tract	KEGG:H01867
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray