CKM creatine kinase, M-type [Homo sapiens (human)] - Gene

Summary

Official Symbol: CKMprovided by HGNC
Official Full Name: creatine kinase, M-typeprovided by HGNC
Primary source: HGNC:HGNC:1994
See related: Ensembl:ENSG00000104879 MIM:123310; AllianceGenome:HGNC:1994
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; CPK-M
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]
Expression: Biased expression in heart (RPKM 751.9), esophagus (RPKM 219.5) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.32

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (45306413..45322875, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (48133088..48149564, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (45809671..45826133, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The role of serum creatine kinase levels in anterior cervical spinal surgery: Change trends and risk factors.
Title: The role of serum creatine kinase levels in anterior cervical spinal surgery: Change trends and risk factors.
CKM Gene rs8111989 Polymorphism and Power Athlete Status.
Title: CKM Gene rs8111989 Polymorphism and Power Athlete Status.
Ancestral contribution of the muscle-specific creatine kinase (CKM) polymorphism rs4884 in the knee osteoarthritis risk: a preliminary study.
Title: Ancestral contribution of the muscle-specific creatine kinase (CKM) polymorphism rs4884 in the knee osteoarthritis risk: a preliminary study.
Acetylation of muscle creatine kinase negatively impacts high-energy phosphotransfer in heart failure.
Title: Acetylation of muscle creatine kinase negatively impacts high-energy phosphotransfer in heart failure.
Population-Wide Duchenne Muscular Dystrophy Carrier Detection by CK and Molecular Testing.
Title: Population-Wide Duchenne Muscular Dystrophy Carrier Detection by CK and Molecular Testing.
Serological risk factors for concomitant interstitial lung disease in patients with idiopathic inflammatory myopathy.
Title: Serological risk factors for concomitant interstitial lung disease in patients with idiopathic inflammatory myopathy.
BMI and CK-MB were independent markers of SAMS
Title: Biochemical markers of muscle damage and high serum concentration of creatine kinase in patients on statin therapy.
This method allows absolute quantitative measurement when conventional calibration curve fails to provide accurate estimation of cardiac biomarkers, especially at low and high concentration ranges. Under an optimised condition, the LOD of our SERS-based muPAD was identified at 8, 10, and 1pgmL(-1), for GPBB, CK-MB and cTnT, respectively, which is well below the clinical cutoff values.
Title: Using SERS-based microfluidic paper-based device (μPAD) for calibration-free quantitative measurement of AMI cardiac biomarkers.
This study aims to measure CK kinetics during pharmacological stress at 3 T, with measurement in the supine position.
Title: Localized rest and stress human cardiac creatine kinase reaction kinetics at 3 T.
This study suggests that the ACE and CKMM polymorphisms influence the endurance performance phenotype in non-trained adolescent males.
Title: Do ACE and CKMM gene variations have potent effects on physical performance in inactive male adolescents?

Submit: New GeneRIF Correction See all GeneRIFs (77)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
CKM and LILRB5 Are Associated with Serum Levels of Creatine Kinase. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D19S639E (e-PCR)
- UniSTS:150562

Ckmm (e-PCR), detects polymorphism
- UniSTS:238130

RH69074 (e-PCR)
- UniSTS:2905

STS-M14780 (e-PCR)
- UniSTS:29832

RH80908 (e-PCR)
- UniSTS:88974

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables creatine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in phosphocreatine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphorylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: creatine kinase M-type

Names: creatine kinase M chain; creatine kinase, muscle; creatine phosphokinase M-type

NP_001815.2

EC 2.7.3.2

NCBI Reference Sequences (RefSeq)

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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.