Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 548596, updated on 20-Dec-2019

    Summary

    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
    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

    Genomic context

    See CKMT1A in Genome Data Viewer
    Location:
    15q15.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20191205 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (43692644..43699222)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (43985084..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 RNA, U6 small nuclear 353, pseudogene Neighboring gene stereocilin pseudogene 1 Neighboring gene RNA, U6 small nuclear 354, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ50967

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    creatine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    creatine metabolic process TAS
    Traceable Author Statement
    more info
     
    phosphocreatine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    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_005254555.1
    XP_016877858.1
    XP_016877859.1
    XP_016877860.1

    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)

    1. NM_001015001.2NP_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
      P12532
      Related
      ENSP00000413165.1, ENST00000434505.5
      Conserved Domains (1) summary
      cd00716
      Location:49406
      creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes
    2. NM_001321926.2NP_001308855.1  creatine kinase U-type, mitochondrial isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC011330
      Consensus CDS
      CCDS32217.1
      UniProtKB/Swiss-Prot
      P12532
      Related
      ENSP00000406577.2, ENST00000413453.6
      Conserved Domains (1) summary
      cd00716
      Location:49406
      creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes
    3. NM_001321927.1NP_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:80437
      creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes
    4. NM_001321928.1NP_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:80437
      creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes
    5. NM_001321929.1NP_001308858.1  creatine kinase U-type, mitochondrial isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC011330
      Conserved Domains (1) summary
      cl02823
      Location:4247
      phosphagen_kinases; Phosphagen (guanidino) kinases

    RNA

    1. NR_135856.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC011330

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

      Range
      43692644..43699222
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Related
      ENSP00000401927.1, ENST00000415044.3
      Conserved Domains (1) summary
      cl02823
      Location:80203
      phosphagen_kinases; Phosphagen (guanidino) kinases
    2. XM_017022369.1XP_016877858.1  creatine kinase U-type, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      P12532
      Conserved Domains (1) summary
      cd00716
      Location:80437
      creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes
    3. XM_017022370.1XP_016877859.1  creatine kinase U-type, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      P12532
      Conserved Domains (1) summary
      cd00716
      Location:80437
      creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes
    4. XM_005254498.4XP_005254555.1  creatine kinase U-type, mitochondrial isoform X2

      See identical proteins and their annotated locations for XP_005254555.1

      Conserved Domains (1) summary
      cl02823
      Location:4247
      phosphagen_kinases; Phosphagen (guanidino) kinases
    Support Center