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CKMT1A creatine kinase, mitochondrial 1A [ Homo sapiens (human) ]

Gene ID: 548596, updated on 3-Nov-2024

Summary

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Official Symbol
CKMT1Aprovided by HGNC
Official Full Name
creatine kinase, mitochondrial 1Aprovided by HGNC
Primary source
HGNC:HGNC:31736
See related
Ensembl:ENSG00000223572 MIM:613415; AllianceGenome:HGNC:31736
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
CKMT1; U-MtCK; mia-CK
Summary
Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis have shown overexpression of ubiquitous mitochondrial creatine kinase; this may be related to high energy turnover and failure to eliminate cancer cells via apoptosis. Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons of sarcomeric mitochondrial creatine kinase. Two genes located near each other on chromosome 15 have been identified which encode identical mitochondrial creatine kinase proteins. [provided by RefSeq, Jul 2008]
Expression
Biased expression in colon (RPKM 49.4), duodenum (RPKM 46.7) and 12 other tissues See more
Orthologs
all
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Genomic context

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See CKMT1A in Genome Data Viewer
Location:
15q15.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (43692786..43699222)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (41500150..41506586)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (43984984..43991420)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene PPIP5K1P1-CATSPER2 readthrough Neighboring gene protein disulfide isomerase family A member 3 pseudogene 2 Neighboring gene diphosphoinositol pentakisphosphate kinase 1 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:43985876-43986710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:43986711-43987544 Neighboring gene RNA, U6 small nuclear 353, pseudogene Neighboring gene stereocilin pseudogene 1 Neighboring gene small nucleolar RNA U13

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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Related articles in PubMed

  1. Mitochondrial creatine kinase 1 in non-small cell lung cancer progression and hypoxia adaptation. Li M, et al. Respir Res, 2021 Jul 1. PMID 34210337, Free PMC Article
  2. CKMT1A is a novel potential prognostic biomarker in patients with endometrial cancer. Wang Y, et al. PLoS One, 2022. PMID 35077462, Free PMC Article
  3. An integrative pan-cancer analysis of molecular characteristics and oncogenic role of mitochondrial creatine kinase 1A (CKMT1A) in human tumors. Yang M, et al. Sci Rep, 2022 Jun 15. PMID 35705641, Free PMC Article
  4. Context-dependent roles for ubiquitous mitochondrial creatine kinase CKMT1 in breast cancer progression. Ayyappan V, et al. Cell Rep, 2024 Apr 23. PMID 38615320, Free PMC Article
  5. CKMT1 regulates the mitochondrial permeability transition pore in a process that provides evidence for alternative forms of the complex. Datler C, et al. J Cell Sci, 2014 Apr 15. PMID 24522192, Free PMC Article

See all (91) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Context-dependent roles for ubiquitous mitochondrial creatine kinase CKMT1 in breast cancer progression.
    Title: Context-dependent roles for ubiquitous mitochondrial creatine kinase CKMT1 in breast cancer progression.
  2. Ckmt1 is Dispensable for Mitochondrial Bioenergetics Within White/Beige Adipose Tissue.
    Title: Ckmt1 is Dispensable for Mitochondrial Bioenergetics Within White/Beige Adipose Tissue.
  3. A Zeb1/MtCK1 metabolic axis controls osteoclast activation and skeletal remodeling.
    Title: A Zeb1/MtCK1 metabolic axis controls osteoclast activation and skeletal remodeling.
  4. An integrative pan-cancer analysis of molecular characteristics and oncogenic role of mitochondrial creatine kinase 1A (CKMT1A) in human tumors.
    Title: An integrative pan-cancer analysis of molecular characteristics and oncogenic role of mitochondrial creatine kinase 1A (CKMT1A) in human tumors.
  5. CKMT1A is a novel potential prognostic biomarker in patients with endometrial cancer.
    Title: CKMT1A is a novel potential prognostic biomarker in patients with endometrial cancer.
  6. Mitochondrial creatine kinase 1 in non-small cell lung cancer progression and hypoxia adaptation.
    Title: Mitochondrial creatine kinase 1 in non-small cell lung cancer progression and hypoxia adaptation.
  7. These findings suggest that activation of the phosphocreatine energy shuttle by MtCK1 Y153 phosphorylation creates a druggable metabolic vulnerability in cancer.
    Title: Tyrosine Phosphorylation of Mitochondrial Creatine Kinase 1 Enhances a Druggable Tumor Energy Shuttle Pathway.
  8. Mitochondrial creatine kinase CKMT1 is necessary for survival of EVI1-expressing cells in subjects with EVI1-positive AML.
    Title: The creatine kinase pathway is a metabolic vulnerability in EVI1-positive acute myeloid leukemia.
  9. CKMT1 is a key regulator of the permeability transition pore through a complex that is distinct from the classical permeability transition pore.
    Title: CKMT1 regulates the mitochondrial permeability transition pore in a process that provides evidence for alternative forms of the complex.
  10. the knock-down of the mitochondrial creatine kinase-1 (CKMT1) by RNA interference causes the dissipation of the mitochondrial membrane potential
    Title: Reconstitution of CKMT1 expression fails to rescue cells from mitochondrial membrane potential dissipation: implications for controlling RNAi experiments.
Submit: New GeneRIF Correction See all GeneRIFs (14)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
integrase gag-pol HIV-1 IN is identified to have a physical interaction with creatine kinase, mitochondrial 1A (CKMT1A) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

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

Clone Names

  • FLJ50967

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 mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
creatine kinase U-type, mitochondrial
Names
acidic-type mitochondrial creatine kinase
creatine kinase, mitochondrial 1 (ubiquitous)
ubiquitous mitochondrial creatine kinase
NP_001015001.1
NP_001308855.1
NP_001308856.1
NP_001308857.1
NP_001308858.1
XP_016877858.1
XP_016877859.1
XP_016877860.1
XP_047288710.1
XP_047288711.1
XP_054234266.1
XP_054234267.1
XP_054234268.1
XP_054234269.1
XP_054234270.1

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_001015001.2 → NP_001015001.1  creatine kinase U-type, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_001015001.1

    Status: REVIEWED

    Source sequence(s)
    BC006467, BM923431, DC393108
    Consensus CDS
    CCDS32217.1
    UniProtKB/Swiss-Prot
    B4DIT8, B7ZA09, P12532, Q0VAM3, Q32NF6, Q53FC4
    Related
    ENSP00000413165.1, ENST00000434505.5
    Conserved Domains (1) summary
    cd00716
    Location:49 → 406
    creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes

  2. NM_001321926.2 → NP_001308855.1  creatine kinase U-type, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC011330
    Consensus CDS
    CCDS32217.1
    UniProtKB/Swiss-Prot
    B4DIT8, B7ZA09, P12532, Q0VAM3, Q32NF6, Q53FC4
    Related
    ENSP00000406577.3, ENST00000413453.7
    Conserved Domains (1) summary
    cd00716
    Location:49 → 406
    creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes

  3. NM_001321927.1 → NP_001308856.1  creatine kinase U-type, mitochondrial isoform 2

    Status: REVIEWED

    Source sequence(s)
    AK316124, BC006467, DC393108
    UniProtKB/Swiss-Prot
    P12532
    Conserved Domains (1) summary
    cd00716
    Location:80 → 437
    creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes

  4. NM_001321928.1 → NP_001308857.1  creatine kinase U-type, mitochondrial isoform 2

    Status: REVIEWED

    Source sequence(s)
    AK316319, BC006467
    UniProtKB/Swiss-Prot
    P12532
    Conserved Domains (1) summary
    cd00716
    Location:80 → 437
    creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes

  5. NM_001321929.1 → NP_001308858.1  creatine kinase U-type, mitochondrial isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC011330
    Conserved Domains (1) summary
    cl02823
    Location:4 → 247
    phosphagen_kinases; Phosphagen (guanidino) kinases

RNA

  1. NR_135856.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC011330

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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    43692786..43699222
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022369.2 → XP_016877858.1  creatine kinase U-type, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    P12532
    Conserved Domains (1) summary
    cd00716
    Location:80 → 437
    creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes

  2. XM_047432754.1 → XP_047288710.1  creatine kinase U-type, mitochondrial isoform X2

    UniProtKB/Swiss-Prot
    B4DIT8, B7ZA09, P12532, Q0VAM3, Q32NF6, Q53FC4

  3. XM_017022370.2 → XP_016877859.1  creatine kinase U-type, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    P12532
    Conserved Domains (1) summary
    cd00716
    Location:80 → 437
    creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes

  4. XM_047432755.1 → XP_047288711.1  creatine kinase U-type, mitochondrial isoform X2

    UniProtKB/Swiss-Prot
    B4DIT8, B7ZA09, P12532, Q0VAM3, Q32NF6, Q53FC4

  5. XM_017022371.2 → XP_016877860.1  creatine kinase U-type, mitochondrial isoform X3

    UniProtKB/TrEMBL
    B4DKA2
    Related
    ENSP00000401927.1, ENST00000415044.3
    Conserved Domains (1) summary
    cl02823
    Location:80 → 203
    phosphagen_kinases; Phosphagen (guanidino) kinases

RNA

  1. XR_007064465.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    41500150..41506586
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054378291.1 → XP_054234266.1  creatine kinase U-type, mitochondrial isoform X1

  2. XM_054378293.1 → XP_054234268.1  creatine kinase U-type, mitochondrial isoform X2

    UniProtKB/Swiss-Prot
    B4DIT8, B7ZA09, P12532, Q0VAM3, Q32NF6, Q53FC4

  3. XM_054378292.1 → XP_054234267.1  creatine kinase U-type, mitochondrial isoform X1

  4. XM_054378294.1 → XP_054234269.1  creatine kinase U-type, mitochondrial isoform X2

    UniProtKB/Swiss-Prot
    B4DIT8, B7ZA09, P12532, Q0VAM3, Q32NF6, Q53FC4

  5. XM_054378295.1 → XP_054234270.1  creatine kinase U-type, mitochondrial isoform X3

RNA

  1. XR_008488973.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P12532.1 GenPept UniProtKB/Swiss-Prot:P12532

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