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    BCCIP BRCA2 and CDKN1A interacting protein [ Homo sapiens (human) ]

    Gene ID: 56647, updated on 18-Jun-2019

    Summary

    Official Symbol
    BCCIPprovided by HGNC
    Official Full Name
    BRCA2 and CDKN1A interacting proteinprovided by HGNC
    Primary source
    HGNC:HGNC:978
    See related
    Ensembl:ENSG00000107949 MIM:611883
    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
    TOK1; TOK-1
    Summary
    This gene product was isolated on the basis of its interaction with BRCA2 and p21 proteins. It is an evolutionarily conserved nuclear protein with multiple interacting domains. The N-terminal half shares moderate homology with regions of calmodulin and M-calpain, suggesting that it may also bind calcium. Functional studies indicate that this protein may be an important cofactor for BRCA2 in tumor suppression, and a modulator of CDK2 kinase activity via p21. This protein has also been implicated in the regulation of BRCA2 and RAD51 nuclear focus formation, double-strand break-induced homologous recombination, and cell cycle progression. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 16.0), ovary (RPKM 12.3) and 25 other tissues See more
    Orthologs

    Genomic context

    See BCCIP in Genome Data Viewer
    Location:
    10q26.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (125823546..125853695)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (127512102..127542264)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene matrix metallopeptidase 21 Neighboring gene uroporphyrinogen III synthase Neighboring gene microRNA 4484 Neighboring gene DEAH-box helicase 32 (putative) Neighboring gene RNA, U2 small nuclear 42, pseudogene Neighboring gene fibronectin type III and ankyrin repeat domains 1 Neighboring gene G protein subunit gamma 10 pseudogene 1

    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 FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding HDA PubMed 
    kinase regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    kinase regulator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    tubulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to DNA damage stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    establishment of mitotic spindle orientation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    microtubule anchoring IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    microtubule anchoring IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    microtubule cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitotic spindle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitotic spindle assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitotic spindle organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitotic spindle organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuroendocrine cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of cyclin-dependent protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of cyclin-dependent protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    centriole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    mitotic spindle pole IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitotic spindle pole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear cyclin-dependent protein kinase holoenzyme complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    BRCA2 and CDKN1A-interacting protein
    Names
    BCCIPalpha
    BCCIPbeta
    BRCA2 and Cip1/p21 interacting protein
    TOK-1alpha
    TOK-1beta
    cdk inhibitor p21 binding protein
    p21- and CDK-associated protein 1
    protein TOK-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.

    Genomic

    1. NG_029095.1 RefSeqGene

      Range
      5001..35161
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_016567.4NP_057651.1  BRCA2 and CDKN1A-interacting protein isoform BCCIPalpha

      See identical proteins and their annotated locations for NP_057651.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (A) encodes the longest isoform (BCCIPalpha, which is also known as TOK-1alpha). BCCIPalpha has a different C-terminus compared to isoforms BCCIPbeta and C, and has been the subject of most functional studies.
      Source sequence(s)
      AY064248, BM974496
      Consensus CDS
      CCDS7649.1
      UniProtKB/Swiss-Prot
      Q9P287
      Related
      ENSP00000357748.5, ENST00000368759.5
      Conserved Domains (1) summary
      pfam13862
      Location:58256
      BCIP; p21-C-terminal region-binding protein
    2. NM_078468.3NP_510868.1  BRCA2 and CDKN1A-interacting protein isoform BCCIPbeta

      See identical proteins and their annotated locations for NP_510868.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (B) is alternatively spliced at the 3' end compared to transcript variant A. It encodes an isoform (BCCIPbeta) which has the same 258 N-terminal aa, but a different C-terminus compared to isoform BCCIPalpha.
      Source sequence(s)
      AY064249
      Consensus CDS
      CCDS7651.1
      UniProtKB/Swiss-Prot
      Q9P287
      Related
      ENSP00000278100.6, ENST00000278100.11
      Conserved Domains (1) summary
      pfam13862
      Location:58256
      BCIP; p21-C-terminal region-binding protein
    3. NM_078469.3NP_510869.1  BRCA2 and CDKN1A-interacting protein isoform C

      See identical proteins and their annotated locations for NP_510869.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (C) is alternatively spliced at the 3' end compared to transcript variant A. It encodes an isoform (C) which has the same 284 N-terminal aa, but is truncated at the C-terminus compared to isoform BCCIPalpha.
      Source sequence(s)
      AL834458, BM741863, BM905542
      Consensus CDS
      CCDS7650.1
      UniProtKB/Swiss-Prot
      Q9P287
      Related
      ENSP00000299130.3, ENST00000299130.7
      Conserved Domains (1) summary
      pfam13862
      Location:58256
      BCIP; p21-C-terminal region-binding protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      125823546..125853695
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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