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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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    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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