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

    Gene ID: 56647, updated on 5-Mar-2024

    Summary

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    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; AllianceGenome:HGNC:978
    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
    mouse all
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    Genomic context

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    See BCCIP in Genome Data Viewer
    Location:
    10q26.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (125823546..125853695)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (126706007..126736171)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (127512115..127542264)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2924 Neighboring gene matrix metallopeptidase 21 Neighboring gene uroporphyrinogen III synthase Neighboring gene CRISPRi-validated UROS cis-regulatory element Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:127511755-127512440 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:127512660-127512879 Neighboring gene microRNA 4484 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:127541940-127542119 Neighboring gene DEAH-box helicase 32 (putative) Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:127569451-127570173 Neighboring gene Sharpr-MPRA regulatory region 1957 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2926 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2927 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2928 Neighboring gene Sharpr-MPRA regulatory region 15703 Neighboring gene RNA, U2 small nuclear 42, pseudogene Neighboring gene fibronectin type III and ankyrin repeat domains 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:127623020-127623520 Neighboring gene G protein subunit gamma 10 pseudogene 1

    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. Overexpression of BCCIP predicts an unfavorable prognosis and promotes the proliferation and migration of lung adenocarcinoma. Shi J, et al. Thorac Cancer, 2021 Sep. PMID 34297484, Free PMC Article
    2. Structure of human BCCIP and implications for binding and modification of partner proteins. Choi WS, et al. Protein Sci, 2021 Mar. PMID 33452718, Free PMC Article
    3. High Expression of BCCIP β Can Promote Proliferation of Esophageal Squamous Cell Carcinoma. Chen L, et al. Dig Dis Sci, 2017 Feb. PMID 27995408
    4. The beta-isoform of the BRCA2 and CDKN1A(p21)-interacting protein (BCCIP) stabilizes nuclear RPL23/uL14. Wyler E, et al. FEBS Lett, 2014 Oct 16. PMID 25150171
    5. Mutation analysis of the BCCIP gene for breast cancer susceptibility in breast/ovarian cancer families. Bonache S, et al. Gynecol Oncol, 2013 Nov. PMID 23911796

    See all (111) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expression and Significance of BCCIP and Glutathione Peroxidase 4 in Clear Cell Renal Cell Carcinoma.
      Title: Expression and Significance of BCCIP and Glutathione Peroxidase 4 in Clear Cell Renal Cell Carcinoma.
    2. Overexpression of BCCIP predicts an unfavorable prognosis and promotes the proliferation and migration of lung adenocarcinoma.
      Title: Overexpression of BCCIP predicts an unfavorable prognosis and promotes the proliferation and migration of lung adenocarcinoma.
    3. Structure of human BCCIP and implications for binding and modification of partner proteins.
      Title: Structure of human BCCIP and implications for binding and modification of partner proteins.
    4. BCCIPbeta facilitates p53 ubiquitination via binding with E6 protein in high-risk HPV positive head and neck squamous cell carcinoma.
      Title: BCCIPβ facilitates p53 ubiquitination via binding with E6 protein in high-risk HPV positive head and neck squamous cell carcinoma.
    5. BCCIP is required for nucleolar recruitment of eIF6 and 12S pre-rRNA production during 60S ribosome biogenesis.
      Title: BCCIP is required for nucleolar recruitment of eIF6 and 12S pre-rRNA production during 60S ribosome biogenesis.
    6. BCCIP stabilized YY1 protein in colorectal cancer cells.Transcriptional regulation of BCCIP was associated with its ability to stabilize YY1.BCCIP promoter region contains YY1 binding site (CCGCCATC).BCCIP binds to and activates its promoter in a YY1-dependent fashion.
      Title: BCCIP binds to and activates its promoter in a YY1-dependent fashion in HCT116 cells.
    7. We analyzed the BCCIP protein level in 470 cases of human breast cancer to determine the associations between BCCIP and 53BP1, p53, and subtypes of breast cancer. We further constructed a unique BCCIP knockdown mouse model to determine whether a partial BCCIP deficiency leads to spontaneous breast cancer formation
      Title: Roles of BCCIP deficiency in mammary tumorigenesis.
    8. BCCIPbeta, as a S7 modulator, contributes to the regulation of ribosomal and extraribosomal functions of S7 and has implications in cell growth and tumor development.
      Title: BCCIPβ modulates the ribosomal and extraribosomal function of S7 through a direct interaction.
    9. this study identifies BCCIP as a novel factor critical for microtubule regulation and explicates a mechanism utilized by BCCIP in tumor suppression.
      Title: Regulation of spindle integrity and mitotic fidelity by BCCIP.
    10. Expression of BCCIP beta was notably higher in tumor tissues of esophageal squamous cell carcinoma (ESCC) and Eca 109 cells. In vitro studies such as starvation and refeeding assay along with BCCIP beta-shRNA transfection assay demonstrated that BCCIP beta expression promoted proliferation of ESCC cells.
      Title: High Expression of BCCIP β Can Promote Proliferation of Esophageal Squamous Cell Carcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (27)

    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

    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 RNA binding HDA PubMed 
    enables kinase regulator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in microtubule anchoring IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in microtubule cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic spindle assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic spindle organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neuroendocrine cell differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of cyclin-dependent protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitotic spindle pole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of nuclear cyclin-dependent protein kinase holoenzyme complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    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)

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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.

    Genomic

    1. NG_029095.1 RefSeqGene

      Range
      5012..18017
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_016567.4 → NP_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/TrEMBL
      B4DUS0
      Related
      ENSP00000357748.5, ENST00000368759.5
      Conserved Domains (1) summary
      pfam13862
      Location:58 → 256
      BCIP; p21-C-terminal region-binding protein

    2. NM_078468.3 → NP_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
      B3KP45, Q8ND15, Q96GC4, Q9P287, Q9P288
      UniProtKB/TrEMBL
      B4DUS0
      Related
      ENSP00000278100.6, ENST00000278100.11
      Conserved Domains (1) summary
      pfam13862
      Location:58 → 256
      BCIP; p21-C-terminal region-binding protein

    3. NM_078469.3 → NP_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/TrEMBL
      B4DUS0
      Related
      ENSP00000299130.3, ENST00000299130.7
      Conserved Domains (1) summary
      pfam13862
      Location:58 → 256
      BCIP; p21-C-terminal region-binding protein

    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_000010.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      126706007..126736171
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P287.1 GenPept UniProtKB/Swiss-Prot:Q9P287

    Gene LinkOut

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