ITGB3BP Gene (Protein Coding)

Integrin Subunit Beta 3 Binding Protein

GC01M063440
GIFtS:
41
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 als... See more...

Aliases for ITGB3BP Gene

Aliases for ITGB3BP Gene

  • Integrin Subunit Beta 3 Binding Protein 2 3 5
  • Centromere Protein R 2 3 4
  • CENPR 2 3 4
  • NRIF3 2 3 4
  • Integrin Beta 3 Binding Protein (Beta3-Endonexin) 2 3
  • Nuclear Receptor-Interacting Factor 3 3 4
  • Integrin Beta-3-Binding Protein 3 4
  • Beta3-Endonexin 2 3
  • HSU37139 2 3
  • CENP-R 3 4
  • TAP20 2 3
  • Beta 3 Endonexin 3
  • Beta-3-Endonexin 4
  • ITGB3BP 5

External Ids for ITGB3BP Gene

Previous GeneCards Identifiers for ITGB3BP Gene

  • GC01M063742
  • GC01M062829
  • GC01M063264
  • GC01M063276
  • GC01M063246
  • GC01M063618
  • GC01M063679
  • GC01M063906
  • GC01M062014

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 Subunit Beta 3 Binding Protein) is a Protein Coding gene. Diseases associated with ITGB3BP include Microcephaly 16, Primary, Autosomal Recessive and Microcephaly 15, Primary, Autosomal Recessive. Among its related pathways are Signaling by GPCR and AKT Siganaling Pathway. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and protein C-terminus binding.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for ITGB3BP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ITGB3BP Gene

Genomics for ITGB3BP Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ITGB3BP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ITGB3BP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ITGB3BP

Top Transcription factor binding sites by QIAGEN in the ITGB3BP gene promoter:
  • Bach2
  • FOXJ2
  • FOXJ2 (long isoform)
  • FOXL1
  • Pax-2a
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • POU6F1 (c2)

Genomic Locations for ITGB3BP Gene

Genomic Locations for ITGB3BP Gene
chr1:63,440,770-63,593,721
(GRCh38/hg38)
Size:
152,952 bases
Orientation:
Minus strand
chr1:63,906,441-64,059,392
(GRCh37/hg19)
Size:
152,952 bases
Orientation:
Minus strand

Genomic View for ITGB3BP Gene

Genes around ITGB3BP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITGB3BP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITGB3BP Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ITGB3BP Gene

Proteins for ITGB3BP Gene

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  • 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=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for ITGB3BP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITGB3BP Gene

Protein Expression for ITGB3BP Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ITGB3BP Gene

  • Ubiquitination at Lys133
  • Modification sites at PhosphoSitePlus

Other Protein References for ITGB3BP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ITGB3BP Gene

Domains & Families for ITGB3BP Gene

Gene Families for ITGB3BP Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ITGB3BP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ITGB3BP Gene

GenScript: Design optimal peptide antigens:
  • Nuclear receptor-interacting factor 3 (CENPR_HUMAN)
  • Integrin beta 3 binding protein (Beta3-endonexin), isoform CRA_a (D3DQ59_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13352

UniProtKB/Swiss-Prot:

CENPR_HUMAN :
  • The DD1 domain (also called RepD1 domain) mediates the corepressor function and is essential in the triggering of apoptosis.
Domain:
  • The DD1 domain (also called RepD1 domain) mediates the corepressor function and is essential in the triggering of apoptosis.
  • 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.
  • Contains one Leu-Xaa-Xaa-Ile-Leu (LXXIL) motif, which is essential for the association with nuclear receptors.
genes like me logo Genes that share domains with ITGB3BP: view

Function for ITGB3BP Gene

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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.

Phenotypes From GWAS Catalog for ITGB3BP Gene

Gene Ontology (GO) - Molecular Function for ITGB3BP Gene

GO ID Qualified GO term Evidence PubMed IDs
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
genes like me logo Genes that share phenotypes with ITGB3BP: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITGB3BP

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ITGB3BP gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 2
plasma membrane 1
extracellular 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ITGB3BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IEA --
GO:0000776 kinetochore IEA --
GO:0000777 condensed chromosome kinetochore IEA --
GO:0005634 nucleus TAS 10490654
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with ITGB3BP: view

Pathways & Interactions for ITGB3BP Gene

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

Pathways by source for ITGB3BP Gene

1 GeneGo (Thomson Reuters) pathway for ITGB3BP Gene
  • Cell adhesion Integrin inside-out signaling

SIGNOR curated interactions for ITGB3BP Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ITGB3BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006915 apoptotic process IEA --
GO:0007049 cell cycle IEA --
GO:0007155 cell adhesion TAS 7593198
GO:0007165 signal transduction TAS 7593198
genes like me logo Genes that share ontologies with ITGB3BP: view

Drugs & Compounds for ITGB3BP Gene

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  1. Drug

(3) Drugs for ITGB3BP Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Progesterone Approved, Vet_approved Pharma Activator, Full agonist, Agonist, Pore Blocker, Inhibition Endogenous progesterone receptor agonist 755

(1) Additional Compounds for ITGB3BP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ITGB3BP: view

Transcripts for ITGB3BP Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
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mRNA/cDNA for ITGB3BP Gene

5 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITGB3BP

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

Expression for ITGB3BP Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ITGB3BP Gene

mRNA expression in normal human tissues for ITGB3BP Gene
mRNA expression by BioGPS for ITGB3BP GenemRNA expression by GTEx for ITGB3BP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ITGB3BP Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ITGB3BP

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.

Evidence on tissue expression from TISSUES for ITGB3BP Gene

  • Bone marrow(4.3)
genes like me logo Genes that share expression patterns with ITGB3BP: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ITGB3BP Gene

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 30 31
  • 99.38 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ITGB3BP 30 31
  • 87.77 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ITGB3BP 30 31
  • 83.44 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Itgb3bp 30
  • 76.36 (n)
Mouse
(Mus musculus)
 Mammalia Itgb3bp 30 17 31
  • 74.52 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia ITGB3BP 31
  • 40 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ITGB3BP 30 31
  • 57.85 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ITGB3BP 31
  • 38 (a)
 OneToOne
Species where no ortholog for ITGB3BP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for ITGB3BP: view image

Paralogs for ITGB3BP Gene

No data available for Paralogs for ITGB3BP Gene

Variants for ITGB3BP Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ITGB3BP Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1058057 - p.Ile30Val

Additional dbSNP identifiers (rs#s) for ITGB3BP Gene

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

Variant ID Type Subtype PubMed ID
esv2749041 CNV deletion 23290073
esv2749052 CNV deletion 23290073
nsv1002554 CNV gain 25217958
nsv1113128 CNV deletion 24896259
nsv1119692 CNV deletion 24896259
nsv461672 CNV gain 19166990
nsv470714 CNV gain 18288195
nsv477252 CNV novel sequence insertion 20440878
nsv510935 OTHER complex 20534489
nsv546433 CNV gain 21841781
nsv546434 CNV loss 21841781
nsv830026 CNV gain+loss 17160897

Variation tolerance for ITGB3BP Gene

Residual Variation Intolerance Score: 55.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.33; 7.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ITGB3BP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITGB3BP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITGB3BP Gene

Disorders for ITGB3BP Gene

MalaCards: The human disease database

(6) MalaCards diseases for ITGB3BP Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ITGB3BP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ITGB3BP: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 SJ … Ginsberg MH (The Journal of cell biology 1995) 2 3 4 23
  2. The NRIF3 family of transcriptional coregulators induces rapid and profound apoptosis in breast cancer cells. (PMID: 15082778) Li D … Samuels HH (Molecular and cellular biology 2004) 3 4 23
  3. Domain structure of the NRIF3 family of coregulators suggests potential dual roles in transcriptional regulation. (PMID: 11713274) Li D … Samuels HH (Molecular and cellular biology 2001) 3 4 23
  4. NRIF3 is a novel coactivator mediating functional specificity of nuclear hormone receptors. (PMID: 10490654) Li D … Samuels HH (Molecular and cellular biology 1999) 2 3 4
  5. Affinity modulation of platelet integrin alphaIIbbeta3 by beta3-endonexin, a selective binding partner of the beta3 integrin cytoplasmic tail. (PMID: 9182673) Kashiwagi H … Shattil SJ (The Journal of cell biology 1997) 3 4 23

ExternalLinks

View latest publications for ITGB3BP gene in Mastermind

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