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CKMT1B creatine kinase, mitochondrial 1B [ Homo sapiens (human) ]

Gene ID: 1159, updated on 7-Apr-2024

Summary

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Official Symbol
CKMT1Bprovided by HGNC
Official Full Name
creatine kinase, mitochondrial 1Bprovided by HGNC
Primary source
HGNC:HGNC:1995
See related
Ensembl:ENSG00000237289 MIM:123290; AllianceGenome:HGNC:1995
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
CKMT; CKMT1; UMTCK
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 40.9), duodenum (RPKM 39.5) and 13 other tissues See more
Orthologs
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Genomic context

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Location:
15q15.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (43592857..43599406)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (41400216..41406765)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (43885055..43891604)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9315 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:43810281-43810924 Neighboring gene microtubule associated protein 1A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:43819912-43820544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:43821526-43822026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:43822027-43822527 Neighboring gene diphosphoinositol pentakisphosphate kinase 1 Neighboring gene RNA, U6 small nuclear 554, pseudogene Neighboring gene stereocilin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:43905197-43905696 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
  • 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. CKMT1B is a potential prognostic biomarker and associated with immune infiltration in Lower-grade glioma. Shi H, et al. PLoS One, 2021. PMID 33465115, Free PMC Article
  2. Insights into the Phosphoryl Transfer Mechanism of Human Ubiquitous Mitochondrial Creatine Kinase. Li Q, et al. Sci Rep, 2016 Dec 2. PMID 27909311, Free PMC Article
  3. Overexpression of ubiquitous mitochondrial creatine kinase (uMtCK) accelerates tumor growth by inhibiting apoptosis of breast cancer cells and is associated with a poor prognosis in breast cancer patients. Qian XL, et al. Biochem Biophys Res Commun, 2012 Oct 12. PMID 22982673
  4. Altered creatine kinase adenosine triphosphate kinetics in failing hypertrophied human myocardium. Smith CS, et al. Circulation, 2006 Sep 12. PMID 16952984, Free PMC Article
  5. Expression and carbonylation of creatine kinase in the quadriceps femoris muscles of patients with chronic obstructive pulmonary disease. Barreiro E, et al. Am J Respir Cell Mol Biol, 2005 Dec. PMID 16166745

See all (58) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CKMT1B is a potential prognostic biomarker and associated with immune infiltration in Lower-grade glioma.
    Title: CKMT1B is a potential prognostic biomarker and associated with immune infiltration in Lower-grade glioma.
  2. The highly conserved residue E227 acts as the catalytic base to accept the guanidinium proton transferred from creatine in UMTCK.
    Title: Insights into the Phosphoryl Transfer Mechanism of Human Ubiquitous Mitochondrial Creatine Kinase.
  3. 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.
  4. LRRK2 can interact directly with uMtCK to block its entry into mitochondria and its subsequent processing.
    Title: Expression of leucine-rich repeat kinase 2 (LRRK2) inhibits the processing of uMtCK to induce cell death in a cell culture model system.
  5. 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.
  6. mitochondrial creatine kinase expression in hepatocellular carcinoma may be caused by hepatocarcinogenesis per se but not by loss of mitochondrial integrity, of which ASB9 could be a negative regulator
    Title: High ubiquitous mitochondrial creatine kinase expression in hepatocellular carcinoma denotes a poor prognosis with highly malignant potential.
  7. The results indicated that uMtCK expression is associated with a poor prognosis in breast cancer and might serve as a tumor marker.
    Title: Overexpression of ubiquitous mitochondrial creatine kinase (uMtCK) accelerates tumor growth by inhibiting apoptosis of breast cancer cells and is associated with a poor prognosis in breast cancer patients.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  9. Because creatine kinase temporally buffers ATP, these observations support the hypothesis that a deficit in myofibrillar energy delivery contributes to chronic heart failure pathophysiology in human left ventricular hypertrophy.
    Title: Altered creatine kinase adenosine triphosphate kinetics in failing hypertrophied human myocardium.
  10. Significantly greater creatine kinase carbonylation is associated with chronic obstructive pulmonary disease
    Title: Expression and carbonylation of creatine kinase in the quadriceps femoris muscles of patients with chronic obstructive pulmonary disease.
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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 1B (CKMT1B) 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

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
  
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
  

General protein information

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Preferred Names
creatine kinase U-type, mitochondrial
Names
U-MtCK
acidic-type mitochondrial creatine kinase
creatine kinase, mitochondrial 1 (ubiquitous)
mia-CK
ubiquitous mitochondrial creatine kinase
NP_001362413.1
NP_066270.1
XP_005254207.1
XP_011519496.1
XP_011519497.1
XP_011519498.1
XP_047288088.1
XP_047288089.1
XP_047288090.1
XP_054233229.1
XP_054233230.1
XP_054233231.1
XP_054233232.1
XP_054233233.1
XP_054233234.1
XP_054233235.1

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_001375484.1 → NP_001362413.1  creatine kinase U-type, mitochondrial precursor

    Status: REVIEWED

    Source sequence(s)
    AC011330
    Consensus CDS
    CCDS10097.1
    UniProtKB/Swiss-Prot
    B4DIT8, B7ZA09, P12532, Q0VAM3, Q32NF6, Q53FC4
    Related
    ENSP00000413255.2, ENST00000441322.6
    Conserved Domains (1) summary
    cd00716
    Location:49 → 406
    creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes

  2. NM_020990.5 → NP_066270.1  creatine kinase U-type, mitochondrial precursor

    See identical proteins and their annotated locations for NP_066270.1

    Status: REVIEWED

    Source sequence(s)
    BC108652, DC307769, DC365843
    Consensus CDS
    CCDS10097.1
    UniProtKB/Swiss-Prot
    B4DIT8, B7ZA09, P12532, Q0VAM3, Q32NF6, Q53FC4
    Related
    ENSP00000300283.6, ENST00000300283.10
    Conserved Domains (1) summary
    cd00716
    Location:49 → 406
    creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes

RNA

  1. NR_135748.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC011330, AK293790, BC108652, HY128206

  2. NR_135749.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC011330, BC108652

  3. NR_135750.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC011330, BC108652

  4. NR_135751.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC011330, BC108652
    Related
    ENST00000437534.3

  5. NR_135752.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC011330, BC108652

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    43592857..43599406
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521194.2 → XP_011519496.1  creatine kinase U-type, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011519496.1

    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_011521195.3 → XP_011519497.1  creatine kinase U-type, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011519497.1

    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

  3. XM_047432132.1 → XP_047288088.1  creatine kinase U-type, mitochondrial isoform X2

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

  4. XM_011521196.2 → XP_011519498.1  creatine kinase U-type, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011519498.1

    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. XM_047432133.1 → XP_047288089.1  creatine kinase U-type, mitochondrial isoform X2

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

  6. XM_047432134.1 → XP_047288090.1  creatine kinase U-type, mitochondrial isoform X4

    Related
    ENSP00000411531.1, ENST00000453733.5

  7. XM_005254150.5 → XP_005254207.1  creatine kinase U-type, mitochondrial isoform X3

    See identical proteins and their annotated locations for XP_005254207.1

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    41400216..41406765
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054377254.1 → XP_054233229.1  creatine kinase U-type, mitochondrial isoform X1

  2. XM_054377255.1 → XP_054233230.1  creatine kinase U-type, mitochondrial isoform X1

  3. XM_054377257.1 → XP_054233232.1  creatine kinase U-type, mitochondrial isoform X2

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

  4. XM_054377256.1 → XP_054233231.1  creatine kinase U-type, mitochondrial isoform X1

  5. XM_054377258.1 → XP_054233233.1  creatine kinase U-type, mitochondrial isoform X2

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

  6. XM_054377260.1 → XP_054233235.1  creatine kinase U-type, mitochondrial isoform X4

  7. XM_054377259.1 → XP_054233234.1  creatine kinase U-type, mitochondrial isoform X3

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

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