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

Gene ID: 23421, updated on 1-Jun-2020

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

Genomic context

See ITGB3BP in Genome Data Viewer
Location:
1p31.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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 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
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, 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_001347145.1NP_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_014288.5NP_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, ENST00000271002.14
    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

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_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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