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

Gene ID: 56647, updated on 7-Jun-2020

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
109.20200522 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 Functions

What'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
    5012..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 Updated 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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