CKM (creatine kinase, M-type)

Gene

• Entrez ID: 1158
• Gene name: Creatine kinase, M-type
• Gene symbol: CKM
• Synonyms: CKMM, CPK-M, M-CK
• Chromosome: 19
• Chromosome location: 19q13.32
• Summary: 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 as creatine phosphate. It acts as a homodimer in striated muscle as well as in other tissues, and as a heterodimer with a similar brain isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs149354459	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant

Transcription factors

Transcription factor	Regulation	Reference
KLF3	Activation	20404088
TP53	Activation	8389468
WT1	Activation	8389468

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004111	Function	Creatine kinase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	12972258, 21516116, 25416956, 28514442, 32296183, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0006600	Process	Creatine metabolic process	TAS
GO:0016301	Function	Kinase activity	IBA	21873635
GO:0016310	Process	Phosphorylation	IEA
GO:0046314	Process	Phosphocreatine biosynthetic process	IBA	21873635

Other IDs

• MIM: 123310
• HGNC: 1994
• e!Ensembl: ENSG00000104879

Protein

• UniProt ID: P06732
• Protein name: Creatine kinase M-type (EC 2.7.3.2) (Creatine kinase M chain) (Creatine phosphokinase M-type) (CPK-M) (M-CK)
• Protein function: Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa.
• PDB: 1I0E
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02807	ATP-gua_PtransN	24 → 94	ATP:guanido phosphotransferase, N-terminal domain	Domain
  PF00217	ATP-gua_Ptrans	153 → 367	ATP:guanido phosphotransferase, C-terminal catalytic domain	Domain

• Sequence:

  MPFGNTHNKFKLNYKPEEEYPDLSKHNNHMAKVLTLELYKKLRDKETPSGFTVDDVIQTG
  VDNPGHPFIMTVGCVAGDEESYEVFKELFDPIISDRHGGYKPTDKHKTDLNHENLKGGDD
  LDPNYVLSSRVRTGRSIKGYTLPPHCSRGERRAVEKLSVEALNSLTGEFKGKYYPLKSMT
  EKEQQQLIDDHFLFDKPVSPLLLASGMARDWPDARGIWHNDNKSFLVWVNEEDHLRVISM
  EKGGNMKEVFRRFCVGLQKIEEIFKKAGHPFMWNQHLGYVLTCPSNLGTGLRGGVHVKLA
  HLSKHPKFEEILTRLRLQKRGTGGVDTAAVGSVFDVSNADRLGSSEVEQVQLVVDGVKLM
  VEMEKKLEKGQSIDDMIPAQK

• Sequence length: 381

Pathways

KEGG:

Arginine and proline metabolism
Metabolic pathways

Reactome:

Creatine metabolism

Associated diseases

Disease name	Disease term	References
	Malignant tumor of colon	15059925
	Colonic Neoplasms	15059925
	Acute Coronary Syndrome	15966572
	Left Ventricular Hypertrophy	11406506
	Myocardial Infarction	3279722, 12359538