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

Gene ID: 548596, updated on 23-Nov-2021

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
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Genomic context

See CKMT1A in Genome Data Viewer
Location:
15q15.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (43692644..43699222)
105.20201022 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 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
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables creatine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
 
is_active_in 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)

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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_001015001.2NP_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
    ENSP00000406577.3, ENST00000413453.7
    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 109.20211119

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
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