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

Gene ID: 1158, updated on 14-Nov-2024

Summary

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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
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Genomic context

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See CKM in Genome Data Viewer
Location:
19q13.32
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45306413..45322875, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (48133088..48149564, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45809671..45826133, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene exocyst complex component 3 like 2 Neighboring gene exocyst complex component 3 like 4 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45748359-45749355 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10759 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45755437-45755993 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45767676-45768261 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45768262-45768846 Neighboring gene microtubule affinity regulating kinase 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:45794892-45795094 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:45811788-45811945 Neighboring gene heart enhancer 22 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10761 Neighboring gene ribosomal protein S16 pseudogene 9 Neighboring gene Sharpr-MPRA regulatory region 10062 Neighboring gene kinesin light chain 3 Neighboring gene ERCC excision repair 2, TFIIH core complex helicase subunit

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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?
  1. 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.
  2. CKM Gene rs8111989 Polymorphism and Power Athlete Status.
    Title: CKM Gene rs8111989 Polymorphism and Power Athlete Status.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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
  
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

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.

mRNA and Protein(s)

  1. NM_001824.5 → NP_001815.2  creatine kinase M-type

    See identical proteins and their annotated locations for NP_001815.2

    Status: REVIEWED

    Source sequence(s)
    AJ572902, AK313281, DA896166
    Consensus CDS
    CCDS12659.1
    UniProtKB/Swiss-Prot
    P06732, Q96QL9
    UniProtKB/TrEMBL
    B2R892
    Related
    ENSP00000221476.2, ENST00000221476.4
    Conserved Domains (1) summary
    cd00716
    Location:16 → 373
    creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    45306413..45322875 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    48133088..48149564 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P06732.2 GenPept UniProtKB/Swiss-Prot:P06732

Gene LinkOut

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Chemical Information
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