• Gene id: 84254

Gene Summary

• Gene Symbol: CAMKK1   Gene   UCSC   Ensembl
• Aliases: CAMKKA
• Gene name: calcium/calmodulin dependent protein kinase kinase 1
• Alternate names: calcium/calmodulin-dependent protein kinase kinase 1, CAMKK alpha protein, caM-KK 1, caM-KK alpha, caM-kinase IV kinase, caM-kinase kinase 1, caM-kinase kinase alpha, caMKK 1, calcium/calmodulin-dependent protein kinase kinase 1, alpha, calcium/calmodulin-dependen,
• Gene location: 17p13.2 (3895632: 3860314)     Exons: 19     NC_000017.11
• Gene summary(Entrez): The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade. Three transcript variants
• OMIM: 611411

Protein Summary

• Protein general information: Q8N5S9  
  • Name: Calcium/calmodulin dependent protein kinase kinase 1 (CaM KK 1) (CaM kinase kinase 1) (CaMKK 1) (EC 2.7.11.17) (CaM kinase IV kinase) (Calcium/calmodulin dependent protein kinase kinase alpha) (CaM KK alpha) (CaM kinase kinase alpha) (CaMKK alpha)
  • Length: 505  
  • Mass: 55735
• Sequence:

  MEGGPAVCCQDPRAELVERVAAIDVTHLEEADGGPEPTRNGVDPPPRARAASVIPGSTSRLLPARPSLSARKLSL
  QERPAGSYLEAQAGPYATGPASHISPRAWRRPTIESHHVAISDAEDCVQLNQYKLQSEIGKGAYGVVRLAYNESE
  DRHYAMKVLSKKKLLKQYGFPRRPPPRGSQAAQGGPAKQLLPLERVYQEIAILKKLDHVNVVKLIEVLDDPAEDN
  LYLVFDLLRKGPVMEVPCDKPFSEEQARLYLRDVILGLEYLHCQKIVHRDIKPSNLLLGDDGHVKIADFGVSNQF
  EGNDAQLSSTAGTPAFMAPEAISDSGQSFSGKALDVWATGVTLYCFVYGKCPFIDDFILALHRKIKNEPVVFPEE
  PEISEELKDLILKMLDKNPETRIGVPDIKLHPWVTKNGEEPLPSEEEHCSVVEVTEEEVKNSVRLIPSWTTVILV
  KSMLRKRSFGNPFEPQARREERSMSAPGNLLVKEGFGEGGKSPELPGVQEDEAAS

• Structural information:
  • Protein Domains: (128..40-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR011009  IPR000719  IPR017441  IPR008271  
  • Prosite: PS00107 PS50011 PS00108
  • PDB: 6CCF 6CD6
  • PDBsum: 6CCF 6CD6
  • STRING: ENSP00000158166
• Other Databases: GeneCards:  CAMKK1  Malacards:  CAMKK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004683	calmodulin-dependent protein kinase activity	IBA	molecular function
GO:0005516	calmodulin binding	IBA	molecular function
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0035556	intracellular signal transduction	IBA	biological process
GO:0045860	positive regulation of protein kinase activity	IBA	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:0005516	calmodulin binding	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0004683	calmodulin-dependent protein kinase activity	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05034	Alcoholism
P06959	CCKR signaling map
P06959	CCKR signaling map

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq