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Aliases for ITGB3BP Gene

Aliases for ITGB3BP Gene

  • Integrin Beta 3 Binding Protein (Beta3-Endonexin) 2 3
  • NRIF3 3 4 6
  • Nuclear Receptor-Interacting Factor 3 3 4
  • Integrin Beta-3-Binding Protein 3 4
  • Centromere Protein R 2 3
  • Beta-3-Endonexin 3 4
  • CENP-R 3 4
  • CENPR 3 4
  • Beta 3 Endonexin 3
  • HSU37139 3
  • TAP20 3

External Ids for ITGB3BP Gene

Summaries for ITGB3BP Gene

Entrez Gene Summary for ITGB3BP Gene

  • 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]

GeneCards Summary for ITGB3BP Gene

ITGB3BP (Integrin Beta 3 Binding Protein (Beta3-Endonexin)) is a Protein Coding gene. Diseases associated with ITGB3BP include breast cancer. Among its related pathways are Signaling by FGFR and Signaling by GPCR. GO annotations related to this gene include signal transducer activity and protein C-terminus binding.

UniProtKB/Swiss-Prot for ITGB3BP Gene

  • Transcription coregulator that can have both coactivator and corepressor functions. Isoform 1, but not other isoforms, is involved in the coactivation of nuclear receptors for retinoid X (RXRs) and thyroid hormone (TRs) in a ligand-dependent fashion. In contrast, it does not coactivate nuclear receptors for retinoic acid, vitamin D, progesterone receptor, nor glucocorticoid. Acts as a coactivator for estrogen receptor alpha. Acts as a transcriptional corepressor via its interaction with the NFKB1 NF-kappa-B subunit, possibly by interfering with the transactivation domain of NFKB1. Induces apoptosis in breast cancer cells, but not in other cancer cells, via a caspase-2 mediated pathway that involves mitochondrial membrane permeabilization but does not require other caspases. May also act as an inhibitor of cyclin A-associated kinase. Also acts a component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex.

Gene Wiki entry for ITGB3BP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITGB3BP Gene

Genomics for ITGB3BP Gene

Genomic Location for ITGB3BP Gene

Start:
63,440,770 bp from pter
End:
63,593,721 bp from pter
Size:
152,952 bases
Orientation:
Minus strand

Genomic View for ITGB3BP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ITGB3BP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITGB3BP Gene

Regulatory Elements for ITGB3BP Gene

Proteins for ITGB3BP Gene

  • Protein details for ITGB3BP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13352-CENPR_HUMAN
    Recommended name:
    Centromere protein R
    Protein Accession:
    Q13352
    Secondary Accessions:
    • B2R7D8
    • Q13353
    • Q5RJ42
    • Q5RJ44
    • Q5RJ45
    • Q7KYX2
    • Q96CD5
    • Q9UKB6

    Protein attributes for ITGB3BP Gene

    Size:
    177 amino acids
    Molecular mass:
    20194 Da
    Quaternary structure:
    • Homodimer; mediated by the coiled coil domain. Isoform 3, but not other isoforms, interacts with the cytoplasmic tail of integrin ITGB3. The relevance of the interaction with ITGB3 is however uncertain, since isoform 3 is mainly nuclear. Interacts with CCNA2 and MTA1. Interacts with NFKB1 NF-kappa-B subunit. Component of the CENPA-CAD complex, composed of CENPI, CENPK, CENPL, CENPO, CENPP, CENPQ, CENPR and CENPS. The CENPA-CAD complex interacts with the CENPA-NAC complex, at least composed of CENPA, CENPC, CENPH, CENPM, CENPN, CENPT and CENPU.
    SequenceCaution:
    • Sequence=AAH14385.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ITGB3BP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITGB3BP Gene

Proteomics data for ITGB3BP Gene at MOPED

Post-translational modifications for ITGB3BP Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys133

Other Protein References for ITGB3BP Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ITGB3BP Gene

Domains for ITGB3BP Gene

Protein Domains for ITGB3BP Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

CENPR_HUMAN
Domain:
  • The DD1 domain (also called RepD1 domain) mediates the corepressor function and is essential in the triggering of apoptosis.:
    • Q13352
  • Contains one Leu-Xaa-Xaa-Leu-Leu (LXXLL) motif, a motif known to be important for the association with nuclear receptors. Such motif, which is required for an efficient association with nuclear receptors, is however not essential.:
    • Q13352
  • Contains one Leu-Xaa-Xaa-Ile-Leu (LXXIL) motif, which is essential for the association with nuclear receptors.:
    • Q13352
genes like me logo Genes that share domains with ITGB3BP: view

No data available for Gene Families for ITGB3BP Gene

Function for ITGB3BP Gene

Molecular function for ITGB3BP Gene

UniProtKB/Swiss-Prot Function: Transcription coregulator that can have both coactivator and corepressor functions. Isoform 1, but not other isoforms, is involved in the coactivation of nuclear receptors for retinoid X (RXRs) and thyroid hormone (TRs) in a ligand-dependent fashion. In contrast, it does not coactivate nuclear receptors for retinoic acid, vitamin D, progesterone receptor, nor glucocorticoid. Acts as a coactivator for estrogen receptor alpha. Acts as a transcriptional corepressor via its interaction with the NFKB1 NF-kappa-B subunit, possibly by interfering with the transactivation domain of NFKB1. Induces apoptosis in breast cancer cells, but not in other cancer cells, via a caspase-2 mediated pathway that involves mitochondrial membrane permeabilization but does not require other caspases. May also act as an inhibitor of cyclin A-associated kinase. Also acts a component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex.
UniProtKB/Swiss-Prot Induction: By estrogen.

Gene Ontology (GO) - Molecular Function for ITGB3BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity TAS 10490654
GO:0005515 protein binding IPI 16189514
GO:0008022 protein C-terminus binding TAS 10490654
genes like me logo Genes that share ontologies with ITGB3BP: view

miRNA for ITGB3BP Gene

miRTarBase miRNAs that target ITGB3BP

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for ITGB3BP Gene

Localization for ITGB3BP Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITGB3BP Gene

Isoform 1: Nucleus. Chromosome, centromere. Chromosome, centromere, kinetochore.
Isoform 2: Nucleus.
Isoform 3: Nucleus. Cytoplasm. Note=Isoform 3 is predominantly nuclear and weakly cytoplasmic.
Isoform 4: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ITGB3BP Gene COMPARTMENTS Subcellular localization image for ITGB3BP gene
Compartment Confidence
nucleus 5
cytosol 4
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ITGB3BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 kinetochore --
GO:0000777 condensed chromosome kinetochore IEA --
GO:0005634 nucleus TAS 10490654
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm TAS 7593198
genes like me logo Genes that share ontologies with ITGB3BP: view

Pathways for ITGB3BP Gene

genes like me logo Genes that share pathways with ITGB3BP: view

Pathways by source for ITGB3BP Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for ITGB3BP Gene

Gene Ontology (GO) - Biological Process for ITGB3BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle TAS --
GO:0006334 nucleosome assembly TAS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007067 mitotic nuclear division IEA --
genes like me logo Genes that share ontologies with ITGB3BP: view

Compounds for ITGB3BP Gene

(1) HMDB Compounds for ITGB3BP Gene

Compound Synonyms Cas Number PubMed IDs
Progesterone
  • 17a-Progesterone
57-83-0

(3) Novoseek inferred chemical compound relationships for ITGB3BP Gene

Compound -log(P) Hits PubMed IDs
fibrinogen 31.8 1
serine 20.3 1
calcium 0 1
genes like me logo Genes that share compounds with ITGB3BP: view

Transcripts for ITGB3BP Gene

Unigene Clusters for ITGB3BP Gene

Integrin beta 3 binding protein (beta3-endonexin):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ITGB3BP Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1: - -
SP2: - -
SP3: - - -
SP4: - -
SP5:
SP6: -

Relevant External Links for ITGB3BP Gene

GeneLoc Exon Structure for
ITGB3BP
ECgene alternative splicing isoforms for
ITGB3BP

Expression for ITGB3BP Gene

mRNA expression in normal human tissues for ITGB3BP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ITGB3BP Gene

SOURCE GeneReport for Unigene cluster for ITGB3BP Gene Hs.166539

mRNA Expression by UniProt/SwissProt for ITGB3BP Gene

Q13352-CENPR_HUMAN
Tissue specificity: Widely expressed. Expressed in spleen, thymus, prostate, ovary, small intestine and white blood cells. Highly expressed in testis and colon. Isoform 4 is expressed in platelets, lymphocytes and granulocytes.
genes like me logo Genes that share expressions with ITGB3BP: view

Orthologs for ITGB3BP Gene

This gene was present in the common ancestor of chordates.

Orthologs for ITGB3BP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ITGB3BP 36
  • 99.38 (n)
  • 98.61 (a)
ITGB3BP 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ITGB3BP 36
  • 83.44 (n)
  • 72.33 (a)
ITGB3BP 37
  • 71 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ITGB3BP 36
  • 87.77 (n)
  • 80.73 (a)
ITGB3BP 37
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Itgb3bp 36
  • 74.52 (n)
  • 64.37 (a)
Itgb3bp 16
Itgb3bp 37
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ITGB3BP 37
  • 40 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Itgb3bp 36
  • 76.36 (n)
  • 61.05 (a)
chicken
(Gallus gallus)
Aves ITGB3BP 36
  • 57.85 (n)
  • 43.1 (a)
ITGB3BP 37
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ITGB3BP 37
  • 38 (a)
OneToOne
Species with no ortholog for ITGB3BP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ITGB3BP Gene

ENSEMBL:
Gene Tree for ITGB3BP (if available)
TreeFam:
Gene Tree for ITGB3BP (if available)

Paralogs for ITGB3BP Gene

No data available for Paralogs for ITGB3BP Gene

Variants for ITGB3BP Gene

Sequence variations from dbSNP and Humsavar for ITGB3BP Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs1057815 -- 63,452,717(-) CTAAC(A/G)TCTAC intron-variant
rs1397628 -- 63,464,720(-) atgtt(C/T)accag intron-variant
rs1511053 -- 63,451,008(-) ATTAT(A/G)AAAAT intron-variant
rs1511054 -- 63,470,597(+) agcta(C/T)agata intron-variant
rs1543055 -- 63,444,248(-) AACTT(A/G)CAGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ITGB3BP Gene

Variant ID Type Subtype PubMed ID
nsv461672 CNV Gain 19166990
nsv470714 CNV Gain 18288195
nsv871017 CNV Loss 21882294
nsv871689 CNV Loss 21882294
nsv870480 CNV Loss 21882294
esv2749041 CNV Deletion 23290073
esv2749052 CNV Deletion 23290073
nsv830026 CNV Gain+Loss 17160897
nsv510935 CNV Complex 20534489

Relevant External Links for ITGB3BP Gene

HapMap Linkage Disequilibrium report
ITGB3BP

Disorders for ITGB3BP Gene

(1) MalaCards Diseases for ITGB3BP Gene

Search for ITGB3BP Gene in MalaCards »

(1) Novoseek inferred disease relationships for ITGB3BP Gene

Disease -log(P) Hits PubMed IDs
breast cancer 19.3 8

Relevant External Links for ITGB3BP

Genetic Association Database (GAD)
ITGB3BP
Human Genome Epidemiology (HuGE) Navigator
ITGB3BP
genes like me logo Genes that share disorders with ITGB3BP: view

No data available for UniProtKB/Swiss-Prot for ITGB3BP Gene

Publications for ITGB3BP Gene

  1. Beta 3-endonexin, a novel polypeptide that interacts specifically with the cytoplasmic tail of the integrin beta 3 subunit. (PMID: 7593198) Shattil S.J. … Ginsberg M.H. (J. Cell Biol. 1995) 2 3 4 23
  2. Affinity modulation of platelet integrin alphaIIbbeta3 by beta3- endonexin, a selective binding partner of the beta3 integrin cytoplasmic tail. (PMID: 9182673) Kashiwagi H. … Shattil S.J. (J. Cell Biol. 1997) 3 4 23
  3. Domain structure of the NRIF3 family of coregulators suggests potential dual roles in transcriptional regulation. (PMID: 11713274) Li D. … Samuels H.H. (Mol. Cell. Biol. 2001) 3 4 23
  4. The NRIF3 family of transcriptional coregulators induces rapid and profound apoptosis in breast cancer cells. (PMID: 15082778) Li D. … Samuels H.H. (Mol. Cell. Biol. 2004) 3 4 23
  5. NRIF3 is a novel coactivator mediating functional specificity of nuclear hormone receptors. (PMID: 10490654) Li D. … Samuels H.H. (Mol. Cell. Biol. 1999) 2 3 4

Products for ITGB3BP Gene

Sources for ITGB3BP Gene

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