ITGB3BP Gene Summary [Human]

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]

Details

Type
Processed Transcript
Official Symbol
ITGB3BP
Official Name
integrin subunit beta 3 binding protein [Source:HGNC Symbol;Acc:HGNC:6157]
Ensembl ID
ENSG00000142856
Bio databases IDs NCBI: 23421 Ensembl: ENSG00000142856
Aliases integrin subunit beta 3 binding protein, centromere protein R, beta3-endonexin
Synonyms 4930471O16RIK, AU022583, beta 3 endonexin, BX005053.1, CENP-R, HSU37139, integrin beta 3 binding protein (beta3-endonexin), integrin subunit beta 3 binding protein, integrin subunit β 3 binding protein, integrin β 3 binding protein (beta3-endonexin), LOC103692425, NRIF3, TAP20, β 3 endonexin
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ITGB3BP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • LXXLL motif
  • protein binding
  • death domain 1
  • Kinetochore component, CENP-R

Pathways

Biological processes and signaling networks where the ITGB3BP gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • COVID-19
  • androgenic alopecia
  • neoplasia
  • non-insulin-dependent diabetes mellitus
  • age-related hearing loss
regulated by
regulates
role in cell
  • proliferation
  • apoptosis
  • adhesion
  • killing

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • Cytoplasm
  • cellular membrane
  • cytosol
  • nucleoplasm
  • kinetochores

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human ITGB3BP gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • cell division
  • signal transduction
  • apoptotic process
  • chromosome segregation
  • regulation of transcription, DNA-dependent
  • cell adhesion
  • positive regulation of epithelial cell proliferation
  • CenH3-containing nucleosome assembly at centromere

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • condensed chromosome inner kinetochore
  • cytoplasm
  • membrane
  • cytosol
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.