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    ITGB3BP integrin subunit beta 3 binding protein [ Homo sapiens (human) ]

    Gene ID: 23421, updated on 8-Jul-2021

    Summary

    Official Symbol
    ITGB3BPprovided by HGNC
    Official Full Name
    integrin subunit beta 3 binding proteinprovided by HGNC
    Primary source
    HGNC:HGNC:6157
    See related
    Ensembl:ENSG00000142856 MIM:605494
    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
    CENPR; NRIF3; TAP20; CENP-R; HSU37139
    Summary
    This gene encodes a transcriptional coregulator that binds to and enhances the activity of members of the nuclear receptor families, thyroid hormone receptors and retinoid X receptors. This protein also acts as a corepressor of NF-kappaB-dependent signaling. This protein induces apoptosis in breast cancer cells through a caspase 2-mediated signaling pathway. This protein is also a component of the centromere-specific histone H3 variant nucleosome associated complex (CENP-NAC) and may be involved in mitotic progression by recruiting the histone H3 variant CENP-A to the centromere. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
    Expression
    Ubiquitous expression in testis (RPKM 5.3), adrenal (RPKM 3.4) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ITGB3BP in Genome Data Viewer
    Location:
    1p31.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (63440770..63529395, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (63906441..63988896, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene DnaJ heat shock protein family (Hsp40) member C7 pseudogene Neighboring gene ALG6 alpha-1,3-glucosyltransferase Neighboring gene uncharacterized LOC102724319 Neighboring gene RNA, 7SL, cytoplasmic 488, pseudogene Neighboring gene EF-hand calcium binding domain 7 Neighboring gene RNA, U7 small nuclear 123 pseudogene

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein C-terminus binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in CENP-A containing nucleosome assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in kinetochore IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    centromere protein R
    Names
    beta 3 endonexin
    beta3-endonexin
    integrin beta 3 binding protein (beta3-endonexin)
    integrin beta-3-binding protein
    nuclear receptor-interacting factor 3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_030011.1 RefSeqGene

      Range
      5001..87504
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001206739.2NP_001193668.1  centromere protein R isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AA873717, BC014385, BU853146, BX004807
      Consensus CDS
      CCDS55603.1
      UniProtKB/Swiss-Prot
      Q13352
      Related
      ENSP00000360133.3, ENST00000371092.7
      Conserved Domains (2) summary
      pfam06729
      Location:66200
      CENP-R; Kinetochore component, CENP-R
      pfam13900
      Location:640
      GVQW; Putative domain of unknown function
    2. NM_001347145.2NP_001334074.1  centromere protein R isoform 3

      Status: REVIEWED

      Source sequence(s)
      AA873717, BU853146, CN364268, U37139
    3. NM_001347147.2NP_001334076.1  centromere protein R isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL592218, BU633831, BX004807
      Conserved Domains (1) summary
      pfam06729
      Location:27162
      CENP-R; Kinetochore component, CENP-R
    4. NM_001347148.2NP_001334077.1  centromere protein R isoform 5

      Status: REVIEWED

      Source sequence(s)
      AA873717, AL592218, BG548447, U37139
      UniProtKB/Swiss-Prot
      Q13352
      UniProtKB/TrEMBL
      D3DQ59
    5. NM_014288.5NP_055103.3  centromere protein R isoform 2

      See identical proteins and their annotated locations for NP_055103.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. Isoform 2 is shorter, compared to isoform 1.
      Source sequence(s)
      AA873717, BC009929, BU853146
      Consensus CDS
      CCDS30736.1
      UniProtKB/Swiss-Prot
      Q13352
      Related
      ENSP00000271002.10, ENST00000271002.15
      Conserved Domains (1) summary
      pfam06729
      Location:27161
      CENP-R; Kinetochore component, CENP-R

    RNA

    1. NR_045147.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an additional exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA873717, BU853146, U37139

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      63440770..63529395 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446042.1XP_024301810.1  centromere protein R isoform X5

      Conserved Domains (1) summary
      pfam06729
      Location:1122
      CENP-R; Kinetochore component, CENP-R
    2. XM_024446041.1XP_024301809.1  centromere protein R isoform X2

      Conserved Domains (1) summary
      pfam06729
      Location:61196
      CENP-R; Kinetochore component, CENP-R
    3. XM_017000853.2XP_016856342.2  centromere protein R isoform X1

      Conserved Domains (1) summary
      pfam06729
      Location:27162
      CENP-R; Kinetochore component, CENP-R
    4. XM_017000854.2XP_016856343.2  centromere protein R isoform X5

      Conserved Domains (1) summary
      pfam06729
      Location:1122
      CENP-R; Kinetochore component, CENP-R
    5. XM_017000856.1XP_016856345.1  centromere protein R isoform X4

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