• Gene id: 4750

Gene Summary

• Gene Symbol: NEK1   Gene   UCSC   Ensembl
• Aliases: ALS24, NY-REN-55, SRPS2, SRPS2A, SRTD6
• Gene name: NIMA related kinase 1
• Alternate names: serine/threonine-protein kinase Nek1, NIMA (never in mitosis gene a)-related kinase 1, never in mitosis A-related kinase 1, nimA-related protein kinase 1, protein-serine/threonine kinase, renal carcinoma antigen NY-REN-55,
• Gene location: 4q33 (169612628: 169392808)     Exons: 38     NC_000004.12
• Gene summary(Entrez): The protein encoded by this gene is a serine/threonine kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role in axonal development. Defects in this gene are a cause
• OMIM: 604588

Protein Summary

• Protein general information: Q96PY6  
  • Name: Serine/threonine protein kinase Nek1 (EC 2.7.11.1) (Never in mitosis A related kinase 1) (NimA related protein kinase 1) (Renal carcinoma antigen NY REN 55)
  • Length: 1258  
  • Mass: 142828
  • Tissue specificity: High fetal expression in the brain and kidney. {ECO
• Sequence:

  MEKYVRLQKIGEGSFGKAILVKSTEDGRQYVIKEINISRMSSKEREESRREVAVLANMKHPNIVQYRESFEENGS
  LYIVMDYCEGGDLFKRINAQKGVLFQEDQILDWFVQICLALKHVHDRKILHRDIKSQNIFLTKDGTVQLGDFGIA
  RVLNSTVELARTCIGTPYYLSPEICENKPYNNKSDIWALGCVLYELCTLKHAFEAGSMKNLVLKIISGSFPPVSL
  HYSYDLRSLVSQLFKRNPRDRPSVNSILEKGFIAKRIEKFLSPQLIAEEFCLKTFSKFGSQPIPAKRPASGQNSI
  SVMPAQKITKPAAKYGIPLAYKKYGDKKLHEKKPLQKHKQAHQTPEKRVNTGEERRKISEEAARKRRLEFIEKEK
  KQKDQIISLMKAEQMKRQEKERLERINRAREQGWRNVLSAGGSGEVKAPFLGSGGTIAPSSFSSRGQYEHYHAIF
  DQMQQQRAEDNEAKWKREIYGRGLPERGILPGVRPGFPYGAAGHHHFPDADDIRKTLKRLKAVSKQANANRQKGQ
  LAVERAKQVEEFLQRKREAMQNKARAEGHMVYLARLRQIRLQNFNERQQIKAKLRGEKKEANHSEGQEGSEEADM
  RRKKIESLKAHANARAAVLKEQLERKRKEAYEREKKVWEEHLVAKGVKSSDVSPPLGQHETGGSPSKQQMRSVIS
  VTSALKEVGVDSSLTDTRETSEEMQKTNNAISSKREILRRLNENLKAQEDEKGKQNLSDTFEINVHEDAKEHEKE
  KSVSSDRKKWEAGGQLVIPLDELTLDTSFSTTERHTVGEVIKLGPNGSPRRAWGKSPTDSVLKILGEAELQLQTE
  LLENTTIRSEISPEGEKYKPLITGEKKVQCISHEINPSAIVDSPVETKSPEFSEASPQMSLKLEGNLEEPDDLET
  EILQEPSGTNKDESLPCTITDVWISEEKETKETQSADRITIQENEVSEDGVSSTVDQLSDIHIEPGTNDSQHSKC
  DVDKSVQPEPFFHKVVHSEHLNLVPQVQSVQCSPEESFAFRSHSHLPPKNKNKNSLLIGLSTGLFDANNPKMLRT
  CSLPDLSKLFRTLMDVPTVGDVRQDNLEIDEIEDENIKEGPSDSEDIVFEETDTDLQELQASMEQLLREQPGEEY
  SEEEESVLKNSDVEPTANGTDVADEDDNPSSESALNEEWHSDNSDGEIASECECDSVFNHLEELRLHLEQEMGFE
  KFFEVYEKIKAIHEDEDENIEICSKIVQNILGNEHQHLYAKILHLVMADGAYQEDNDE

• Structural information:
  • Protein Domains: (4..25-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR011009  IPR000719  IPR017441  IPR008271  
  • Prosite: PS00107 PS50011 PS00108
  • PDB: 4APC 4B9D
  • PDBsum: 4APC 4B9D
  • STRING: ENSP00000424757
• Other Databases: GeneCards:  NEK1  Malacards:  NEK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016301	kinase activity	IMP	molecular function
GO:0006468	protein phosphorylation	IDA	biological process
GO:0031098	stress-activated protein kinase signaling cascade	IBA	biological process
GO:0023014	signal transduction by protein phosphorylation	IBA	biological process
GO:0032147	activation of protein kinase activity	IBA	biological process
GO:0007346	regulation of mitotic cell cycle	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0005813	centrosome	IDA	cellular component
GO:0000242	pericentriolar material	IDA	cellular component
GO:0042769	DNA damage response, detection of DNA damage	IMP	biological process
GO:0071889	14-3-3 protein binding	ISS	molecular function
GO:0060271	cilium assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
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:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0004672	protein kinase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process

Diseases

Associated diseases	References
Short-rib thoracic dysplasia	KEGG:H02157
Short rib-polydactyly syndrome	KEGG:H00511
Short-rib thoracic dysplasia	KEGG:H02157
Short rib-polydactyly syndrome	KEGG:H00511
Asphyxiating thoracic dystrophy	PMID:22499340
Asphyxiating thoracic dystrophy	PMID:21211617
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq