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

    Gene ID: 23421, updated on 2-Oct-2018

    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; Vega:OTTHUMG00000013364
    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

    Genomic context

    See ITGB3BP in Genome Data Viewer
    Location:
    1p31.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (63440770..63529395, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (63906441..63988944, 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
      Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
    • Cell death signalling via NRAGE, NRIF and NADE, organism-specific biosystem (from REACTOME)
      Cell death signalling via NRAGE, NRIF and NADE, organism-specific biosystemp75NTR is a key regulator of neuronal apoptosis, both during development and after injury. Apoptosis is triggered by binding of either mature neurotrophin or proneurotrophin (proNGF, proBDNF). ProNG...
    • Chromosome Maintenance, organism-specific biosystem (from REACTOME)
      Chromosome Maintenance, organism-specific biosystemChromosome maintenance is critical for stable chromosome function in mammalian and other eukaryotic cells. Aspects of telomere maintenance and nucleosome assembly are covered here.
    • Deposition of new CENPA-containing nucleosomes at the centromere, organism-specific biosystem (from REACTOME)
      Deposition of new CENPA-containing nucleosomes at the centromere, organism-specific biosystemEukaryotic centromeres are marked by a unique form of histone H3, designated CENPA in humans. In human cells newly synthesized CENPA is deposited in nucleosomes at the centromere during late telophas...
    • M Phase, organism-specific biosystem (from REACTOME)
      M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
    • Mitotic Anaphase, organism-specific biosystem (from REACTOME)
      Mitotic Anaphase, organism-specific biosystemIn anaphase, the paired chromosomes separate at the centromeres, and move to the opposite sides of the cell. The movement of the chromosomes is facilitated by a combination of kinetochore movement al...
    • Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
      Mitotic Metaphase and Anaphase, organism-specific biosystemMetaphase is marked by the formation of the metaphase plate. The metaphase plate is formed when the spindle fibers align the chromosomes along the middle of the cell. Such an organization helps to ...
    • Mitotic Prometaphase, organism-specific biosystem (from REACTOME)
      Mitotic Prometaphase, organism-specific biosystemThe dissolution of the nuclear membrane marks the beginning of the prometaphase. Kinetochores are created when proteins attach to the centromeres. Microtubules then attach at the kinetochores, and th...
    • NRIF signals cell death from the nucleus, organism-specific biosystem (from REACTOME)
      NRIF signals cell death from the nucleus, organism-specific biosystemNRIF (nuclear receptor-interacting factor) is a DNA binding protein that is essential for p75-mediated apoptosis in retina and sympathetic neurons. Neurotrophin or proneurotrophin binding to p75TR in...
    • Nucleosome assembly, organism-specific biosystem (from REACTOME)
      Nucleosome assembly, organism-specific biosystemThe formation of centromeric chromatin assembly outside the context of DNA replication involves the assembly of nucleosomes containing the histone H3 variant CenH3 (also called CENP-A).
    • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
      RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
    • RHO GTPases Activate Formins, organism-specific biosystem (from REACTOME)
      RHO GTPases Activate Formins, organism-specific biosystemFormins are a family of proteins with 15 members in mammals, organized into 8 subfamilies. Formins are involved in the regulation of actin cytoskeleton. Many but not all formin family members are act...
    • Resolution of Sister Chromatid Cohesion, organism-specific biosystem (from REACTOME)
      Resolution of Sister Chromatid Cohesion, organism-specific biosystemThe resolution of sister chromatids in mitotic prometaphase involves removal of cohesin complexes from chromosomal arms, with preservation of cohesion at centromeres (Losada et al. 1998, Hauf et al. ...
    • Separation of Sister Chromatids, organism-specific biosystem (from REACTOME)
      Separation of Sister Chromatids, organism-specific biosystemWhile sister chromatids resolve in prometaphase, separating along chromosomal arms, the cohesion of sister centromeres persists until anaphase. At the anaphase onset, the anaphase promoting complex/c...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
      Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
    • Signalling by NGF, organism-specific biosystem (from REACTOME)
      Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
    • p75 NTR receptor-mediated signalling, organism-specific biosystem (from REACTOME)
      p75 NTR receptor-mediated signalling, organism-specific biosystemBesides signalling through the tyrosine kinase receptors TRK A, B, and C, the mature neurotrophins NGF, BDNF, and NT3/4 signal through their common receptor p75NTR. NGF binding to p75NTR activates a ...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

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

    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_001206739.1NP_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, OTTHUMP00000015410, ENST00000371092.7, OTTHUMT00000037243
      Conserved Domains (2) summary
      pfam06729
      Location:66200
      CENP-R; Kinetochore component, CENP-R
      pfam13900
      Location:640
      GVQW; Putative domain of unknown function
    2. NM_001347145.1NP_001334074.1  centromere protein R isoform 3

      Status: REVIEWED

      Source sequence(s)
      AA873717, BU853146, CN364268, U37139
    3. NM_001347147.1NP_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_001347148.1NP_001334077.1  centromere protein R isoform 5

      Status: REVIEWED

      Source sequence(s)
      AA873717, AL592218, BG548447, BU853146, U37139
      UniProtKB/Swiss-Prot
      Q13352
      UniProtKB/TrEMBL
      D3DQ59
    5. NM_014288.4NP_055103.3  centromere protein R isoform 2

      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, OTTHUMP00000015409, ENST00000271002.14, OTTHUMT00000037242
      Conserved Domains (1) summary
      pfam06729
      Location:27161
      CENP-R; Kinetochore component, CENP-R

    RNA

    1. NR_045147.1 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
      Related
      ENST00000489099.5, OTTHUMT00000037219

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_017000855.2XP_016856344.1  centromere protein R isoform X3

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

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

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

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

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

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