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    CKB creatine kinase B [ Homo sapiens (human) ]

    Gene ID: 1152, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CKBprovided by HGNC
    Official Full Name
    creatine kinase Bprovided by HGNC
    Primary source
    HGNC:HGNC:1991
    See related
    Ensembl:ENSG00000166165 MIM:123280; AllianceGenome:HGNC:1991
    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
    BCK; B-CK; CKBB; CPK-B; HEL-211; HEL-S-29
    Summary
    The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in brain as well as in other tissues, and as a heterodimer with a similar muscle isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. A pseudogene of this gene has been characterized. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in colon (RPKM 268.3), prostate (RPKM 227.9) and 18 other tissues See more
    Orthologs
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    Genomic context

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    See CKB in Genome Data Viewer
    Location:
    14q32.33
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (103519667..103522830, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (97755711..97758874, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (103986004..103989167, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene microtubule affinity regulating kinase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9103 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9104 Neighboring gene ribosomal protein L10a pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103921390-103921890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103921891-103922391 Neighboring gene uncharacterized LOC112268130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103984081-103984968 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:103986745-103987632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6156 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6155 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103989409-103990294 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6157 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103999205-103999704 Neighboring gene uncharacterized LOC124903392 Neighboring gene tRNA methyltransferase 61A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:104008443-104009162 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:104009885-104010606 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9105 Neighboring gene RNA, U7 small nuclear 160 pseudogene

    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. Reduced creatine kinase as a central and peripheral biomarker in Huntington's disease. Kim J, et al. Biochim Biophys Acta, 2010 Jul-Aug. PMID 20460152, Free PMC Article
    2. Structure and expression of the human creatine kinase B gene. Mariman EC, et al. Genomics, 1987 Oct. PMID 3692484
    3. Highly sensitive enzyme immunoassay for human creatine kinase BB isozyme. Kato K, et al. Clin Chim Acta, 1985 Jul 30. PMID 3899413
    4. Creatine kinase activity in human endometrium: relative distribution in isolated glands and stroma. Satyaswaroop PG, et al. Am J Obstet Gynecol, 1983 May 15. PMID 6846432
    5. Immunohistochemical localization of creatine kinase-BB isoenzyme to astrocytes in human brain. Thompson RJ, et al. Brain Res, 1980 Nov 17. PMID 6998544

    See all (233) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Creatine kinase B suppresses ferroptosis by phosphorylating GPX4 through a moonlighting function.
      Title: Creatine kinase B suppresses ferroptosis by phosphorylating GPX4 through a moonlighting function.
    2. CKB inhibits epithelial-mesenchymal transition and prostate cancer progression by sequestering and inhibiting AKT activation.
      Title: CKB inhibits epithelial-mesenchymal transition and prostate cancer progression by sequestering and inhibiting AKT activation.
    3. Clinical impact of creatine phosphokinase and c-reactive protein as predictors of postgastrectomy complications in patients with gastric cancer.
      Title: Clinical impact of creatine phosphokinase and c-reactive protein as predictors of postgastrectomy complications in patients with gastric cancer.
    4. Creatine kinase B controls futile creatine cycling in thermogenic fat.
      Title: Creatine kinase B controls futile creatine cycling in thermogenic fat.
    5. The data revealed a varying but significant increase of CK activity in CKBE individuals as compared to controls, reaching an almost 800-fold increase in two CKBE individuals which also had increased erythrocyte creatine.
      Title: Creatine kinase in human erythrocytes: A genetic anomaly reveals presence of soluble brain-type isoform.
    6. Association and oligomerization of Prx II could take part in recovery and protection of the CK BB enzyme activity from inactivation during heat-induced stress.
      Title: Prx II and CKBB proteins interaction under physiologic al and thermal stress conditions in A549 and HeLa cells.
    7. membrane localization of BCK seems to be an important and regulated feature for the fueling of membrane-located, ATP-dependent processes, stressing again the importance of local rather than global ATP concentrations.
      Title: Cellular compartmentation of energy metabolism: creatine kinase microcompartments and recruitment of B-type creatine kinase to specific subcellular sites.
    8. These findings support increased CK activity as protection against ischaemia-reperfusion injury, in particular, protection via CKMT2 in a cardiac-relevant cell line, which merits further investigation in vivo.
      Title: Increasing creatine kinase activity protects against hypoxia / reoxygenation injury but not against anthracycline toxicity in vitro.
    9. SRC, LYN and CKB expression or DNA methylation could be useful markers for predicting tumor progression.
      Title: Deregulated Expression of SRC, LYN and CKB Kinases by DNA Methylation and Its Potential Role in Gastric Cancer Invasiveness and Metastasis.
    10. CK-MB levels were higher after ERCP in non-ischemic patients compared with a myocardial ischemia group. Creatine phosphokinase levels did not differ significantly between groups.
      Title: Role of serum myeloperoxidase, CPK, CK-MB, and cTnI tests in early diagnosis of myocardial ischemia during ERCP.
    Submit: New GeneRIF Correction See all GeneRIFs (41)

    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

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    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

    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

    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 creatine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables creatine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in futile creatine cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phosphocreatine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phosphocreatine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in substantia nigra development HEP PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    creatine kinase B-type
    Names
    brain creatine kinase
    creatine kinase B chain
    creatine kinase brain
    creatine kinase brain-type
    creatine phosphokinase B-type
    epididymis luminal protein 211
    epididymis secretory protein Li 29
    NP_001349460.1
    NP_001814.2

    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_001362531.2 → NP_001349460.1  creatine kinase B-type isoform 2

      Status: REVIEWED

      Source sequence(s)
      BM684665, BP213119, KU177978
      Consensus CDS
      CCDS91943.1
      UniProtKB/TrEMBL
      A0A0S2Z471, V9HW77
      Related
      ENSP00000508488.1, ENST00000689346.1
      Conserved Domains (1) summary
      cd00716
      Location:16 → 397
      creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes

    2. NM_001823.5 → NP_001814.2  creatine kinase B-type isoform 1

      See identical proteins and their annotated locations for NP_001814.2

      Status: REVIEWED

      Source sequence(s)
      AK312282, BM684665, BP213119
      Consensus CDS
      CCDS9981.1
      UniProtKB/Swiss-Prot
      A8K236, B2R5R4, P12277, Q2LE07, Q6FG40, Q9UC66
      UniProtKB/TrEMBL
      V9HW77, V9HWH2
      Related
      ENSP00000299198.2, ENST00000348956.7
      Conserved Domains (1) summary
      cd00716
      Location:16 → 373
      creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      103519667..103522830 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      97755711..97758874 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P12277.1 GenPept UniProtKB/Swiss-Prot:P12277

    Gene LinkOut

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