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

    Gene ID: 1159, updated on 28-Oct-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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    See CKMT1B in Genome Data Viewer
    Location:
    15q15.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (43592857..43599406)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (41400216..41406765)
    RS_2024_09 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 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. Altered creatine kinase adenosine triphosphate kinetics in failing hypertrophied human myocardium. Smith CS, et al. Circulation, 2006 Sep 12. PMID 16952984, Free PMC Article
    2. 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
    3. 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
    4. 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
    5. 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

    See all (64) 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. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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
    		  
    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
    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_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
      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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