ITGB3BP
Description
The ITGB3BP (integrin subunit beta 3 binding protein) is a protein-coding gene located on chromosome 1.
Centromere protein R is a protein that in humans is encoded by the ITGB3BP gene.
Centromere protein R (CENP-R) is a transcription coregulator with both coactivator and corepressor functions. Isoform 1 specifically activates nuclear receptors for retinoid X (RXRs) and thyroid hormone (TRs) in a ligand-dependent manner, but it does not activate receptors for retinoic acid, vitamin D, progesterone, or glucocorticoids. It also functions as a coactivator for estrogen receptor alpha. CENP-R acts as a transcriptional corepressor through its interaction with the NFKB1 NF-kappa-B subunit, potentially by interfering with the NFKB1 transactivation domain. CENP-R induces apoptosis specifically in breast cancer cells via a caspase-2-mediated pathway involving mitochondrial membrane permeabilization but not requiring other caspases. It may also inhibit cyclin A-associated kinase. CENP-R is a component of the CENPA-CAD (nucleosome distal) complex, recruited to centromeres, involved in assembling kinetochore proteins, mitotic progression, and chromosome segregation. It might play a role in incorporating newly synthesized CENPA into centromeres through its interaction with the CENPA-NAC complex.
ITGB3BP is also known as CENP-R, CENPR, HSU37139, NRIF3, TAP20.
Associated Diseases
- type 2 diabetes mellitus
- type 1 diabetes mellitus
- papilloma
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- alpha thalassemia-intellectual disability syndrome type 1
- adamantinoma
- delta-beta-thalassemia
- hemoglobin D disease
- hemoglobin E-beta-thalassemia syndrome
- hemolytic anemia due to adenylate kinase deficiency
