CKM creatine kinase, muscle [Homo sapiens] - Gene

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Summary

Official Symbol: CKMprovided by HGNC
Official Full Name: creatine kinase, muscleprovided by HGNC
Primary source: HGNC:1994
See related: Ensembl:ENSG00000104879; HPRD:00426; MIM:123310
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CKMM; M-CK
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]

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Genomic context

Location :: 19q13.32

Sequence :: Chromosome: 19; NC_000019.9 (45809671..45826233, complement)

See CKM in Epigenomics, MapViewer

Chromosome 19 - NC_000019.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Results indicate that these polymorphisms can indirectly influence performance, contribute to higher susceptibility to exercise-induced inflammation or protection against it, and perhaps affect future risks of CVD in athletes.
Title: Creatine kinase MM TaqI and methylenetetrahydrofolate reductase C677T and A1298C gene polymorphisms influence exercise-induced C-reactive protein levels.
Common variants of MSTN and CKM genes don't play a role in attaining high level endurance performance in Caucasians.
Title: Single nucleotide polymorphisms in the myostatin (MSTN) and muscle creatine kinase (CKM) genes are not associated with elite endurance performance.
The results suggested that the intra- and inter-subunit domain interactions modified the behavior of kinetic refolding.
Title: Dissimilarity in the folding of human cytosolic creatine kinase isoenzymes.
strong down-regulation of MCK activity contributes to F-actin instability and induces post-translational modification of alphaB-crystallin and desmin
Title: Muscle creatine kinase deficiency triggers both actin depolymerization and desmin disorganization by advanced glycation end products in dilated cardiomyopathy.
Elevated creatine kinase-MB is associated with elevated white blood cell count and atherosclerotic plaque in patients with elective stent implantation.
Title: Impact of plaque morphology on creatine kinase-MB elevation in patients with elective stent implantation.
Cardiac troponin T and creatine kinase have roles in infarct size and left ventricular function after acute myocardial infarction
Title: Cardiac troponin T and creatine kinase predict mid-term infarct size and left ventricular function after acute myocardial infarction: a cardiac MR study.
Muscle-type creatine kinase physically interacts with the slow skeletal muscle-type MyBPC1 (myosin-binding protein C1).
Title: Slow skeletal muscle myosin-binding protein-C (MyBPC1) mediates recruitment of muscle-type creatine kinase (CK) to myosin.
The overall efficacy of IMA [ischemia modified albumin]in differentiating AMI[Acute Myocardial Infarction] from Non-AMI cases appears to be comparable to that of CK-MB and cTnI
Title: Diagnosis of ischemic heart disease using CK-MB, troponin-I and ischemia modified albumin.
two residues close to the dimer interface of MMCK were crucial for species-specific thermal stability
Title: Dissecting the key residues crucial for the species-specific thermostability of muscle-type creatine kinase.
The researchers found no association between the CK response after exercise and the presence of the CK-MM NcoI polymorphism.
Title: CK-MM gene polymorphism does not influence the blood CK activity levels after exhaustive eccentric exercise.

Submit: New GeneRIF Correction See all (37)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_001815.2		FHL2	BIND	PubMed	An unspecified isoform of FHL2 (DRAL/FHL-2) interacts with CKM (MM-CK).
P06732	P12277	CKB	HPRD	PubMed
P06732	P06732	CKM	HPRD	PubMed
P06732	Q14192	FHL2	HPRD	PubMed
P06732	Q99972	MYOC	HPRD	PubMed
P06732	P54296	MYOM2	HPRD	PubMed
BioGRID:107578	BioGRID:117036	BRD4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107578	BioGRID:108565	FHL2	BioGRID	PubMed	Reconstituted Complex
BioGRID:107578	BioGRID:111683	PSMD4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107578	BioGRID:124195	TRIM63	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:107578	BioGRID:208426	Trim54	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107578	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:107578	BioGRID:116168	YWHAQ	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
creatine kinase activity	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cellular nitrogen compound metabolic process	TAS Traceable Author Statement more info
creatine metabolic process	TAS Traceable Author Statement more info
phosphocreatine biosynthetic process	IEA Inferred from Electronic Annotation more info
small molecule metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cytoplasm	NAS Non-traceable Author Statement more info
cytosol	TAS Traceable Author Statement more info

General protein information

Preferred Names: creatine kinase M-type

Names: creatine kinase M-type; creatine kinase M chain

NP_001815.2

EC 2.7.3.2

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001824.4 → NP_001815.2 creatine kinase M-type

Status: REVIEWED

Source sequence(s)

AJ572902, AK313281, DA896166, DC385783

Consensus CDS

CCDS12659.1

UniProtKB/TrEMBL

B2R892

UniProtKB/Swiss-Prot

P06732

Related

ENSP00000221476, ENST00000221476

Conserved Domains (1) summary

cd00716
Location:16 – 373
Blast Score: 1761

creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes.

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000019.9 Reference GRCh37.p5 Primary Assembly

Range

45809671..45826233, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000151.1 Alternate HuRef

Range

42241505..42258550, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC005781.1	AAC62841.1
genomic	AY585238.1	AAS79321.1
genomic	CH471126.1	EAW57337.1
genomic	M21487.1 (2620..2902)	None
genomic	M21494.1	AAA96609.1
mRNA	AK129878.1	None
mRNA	AK300730.1	BAG62403.1
mRNA	AK313281.1	BAG36089.1
mRNA	BC007462.1	AAH07462.1
mRNA	BT006793.1	AAP35439.1
mRNA	DA896166.1	None
mRNA	M14780.1	AAA52025.1
mRNA	M16440.1	AAA52026.1
other-genetic	DQ890539.2	ABM92156.1
other-genetic	DQ893701.2	ABM84627.1