• Gene id: 1158

Gene Summary

• Gene Symbol: CKM   Gene   UCSC   Ensembl
• Aliases: CKMM, CPK-M, M-CK
• Gene name: creatine kinase, M-type
• Alternate names: creatine kinase M-type, creatine kinase M chain, creatine kinase, muscle, creatine phosphokinase M-type,
• Gene location: 19q13.32 (45322976: 45306412)     Exons: 8     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis and is an important serum marker for myocardial infarction. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such
• OMIM: 123310

SNPs

rs144944885

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000022.11   g.50776483del
NC_000022.10   g.51214911del
NW_004070876.1   g.11558del|SEQ=[G/-]|GENE=RABL2B
RPL23AP82   284942

Protein Summary

• Protein general information: P06732  
  • Name: Creatine kinase M type (EC 2.7.3.2) (Creatine kinase M chain) (Creatine phosphokinase M type) (CPK M) (M CK)
  • Length: 381  
  • Mass: 43,101
• Sequence:

  MPFGNTHNKFKLNYKPEEEYPDLSKHNNHMAKVLTLELYKKLRDKETPSGFTVDDVIQTGVDNPGHPFIMTVGCV
  AGDEESYEVFKELFDPIISDRHGGYKPTDKHKTDLNHENLKGGDDLDPNYVLSSRVRTGRSIKGYTLPPHCSRGE
  RRAVEKLSVEALNSLTGEFKGKYYPLKSMTEKEQQQLIDDHFLFDKPVSPLLLASGMARDWPDARGIWHNDNKSF
  LVWVNEEDHLRVISMEKGGNMKEVFRRFCVGLQKIEEIFKKAGHPFMWNQHLGYVLTCPSNLGTGLRGGVHVKLA
  HLSKHPKFEEILTRLRLQKRGTGGVDTAAVGSVFDVSNADRLGSSEVEQVQLVVDGVKLMVEMEKKLEKGQSIDD
  MIPAQK

• Structural information:
  • Protein Domains: Phosphagen (11-98)
    Phosphagen (125-367)
  • Interpro: IPR000749  IPR022415  IPR022414  IPR022413  IPR036802   IPR014746  
  • Prosite: PS00112 PS51510 PS51509
  • PDB: 1I0E
  • PDBsum: 1I0E
  • STRING: ENSP00000221476
• Other Databases: GeneCards:  CKM  Malacards:  CKM

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004111	creatine kinase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006600	creatine metabolic process	TAS	biological process
GO:0016310	phosphorylation	IEA	biological process
GO:0046314	phosphocreatine biosynthetic process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0004111	creatine kinase activity	IEA	molecular function
GO:0004111	creatine kinase activity	IEA	molecular function
GO:0004111	creatine kinase activity	TAS	molecular function
GO:0004111	creatine kinase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006600	creatine metabolic process	TAS	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016772	transferase activity, transferring phosphorus-containing groups	IEA	molecular function
GO:0046314	phosphocreatine biosynthetic process	IEA	biological process
GO:0004111	creatine kinase activity	TAS	molecular function
GO:0004111	creatine kinase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006600	creatine metabolic process	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00010	Glycolysis / Gluconeogenesis

Diseases

Associated diseases	References
Congenital heart defects	GAD: 16120572
Cardiovascular disease	GAD: 16120572
Cleft defects	GAD: 20634891
Oligoasthenozoospermia	MIK: 7298226
Oligozoospermia	MIK: 8005703
Oligozoospermia	MIK: 9987692
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Oligozoospermia	MIK: 9987692

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
8005703	Oligozoospermic			282 (188 normospermic, 94 oligozoospermic men)	Male infertility	CPK
9987692	Oligozospermia		Hungari an	109 randomly selected men in a university-based andrology laboratory	Male infertility	Creatine phosphokinase (CK)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq