CDKN2AIP Antibody – Rabbit Polyclonal

The protein encoded by this gene regulates the DNA damage response through several different signaling pathways. One such pathway is the p53-HDM2-p21(WAF1) pathway, which is critical to the DNA damage response. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

p16-INK4A iso4: a cell-cycle regulatory protein that interacts with CDK4 and CDK6, inhibiting their ability to interact with cyclins D. Inhibits the phosphorylation of the retinoblastoma protein by CDK4 or CDK6, and entry into the S phase of the cell cycle. The p16INK4A and p14ARF proteins are encoded by CDKN2A, a known tumour suppressor gene in multiple cancers. CDKN2A is inactivated in 72% of cases of lung squamous cell carcinoma: 21% by epigenetic silencing by methylation, 18% inactivating mutation, 4% by exon 1b skipping, and 29% by homozygous deletion. Defects in CDKN2A are the cause of familial atypical multiple mole melanoma-pancreatic carcinoma syndrome, Li-Fraumeni syndrome, and the melanoma-astrocytoma syndrome. The melanoma-astrocytoma syndrome is characterized by a dual predisposition to melanoma and neural system tumors, commonly astrocytoma. Four alternatively spliced p16 isoforms have been reported. Two alternatively spliced isoforms of ARF have been reported.

Protein type: Nucleolus; Cell cycle regulation; Tumor suppressor

Chromosomal Location of Human Ortholog: 9p21

Cellular Component: nucleoplasm; nuclear body; protein complex; mitochondrion; cytoplasm; nucleolus; nucleus; cytosol

Molecular Function: cyclin-dependent protein kinase inhibitor activity; NF-kappaB binding; protein binding; DNA binding; p53 binding; ubiquitin-protein ligase inhibitor activity; transcription factor binding; protein kinase binding

Biological Process: protein polyubiquitination; positive regulation of apoptosis; positive regulation of transcription, DNA-dependent; regulation of protein stability; negative regulation of B cell proliferation; regulation of protein export from nucleus; negative regulation of cell proliferation; apoptotic mitochondrial changes; regulation of G2/M transition of mitotic cell cycle; somatic stem cell division; cell cycle arrest; negative regulation of immature T cell proliferation in the thymus; caspase activation; protein destabilization; transcription, DNA-dependent; protein stabilization; negative regulation of cyclin-dependent protein kinase activity; negative regulation of cell-matrix adhesion; positive regulation of protein sumoylation; inhibition of NF-kappaB transcription factor; Ras protein signal transduction; negative regulation of ubiquitin-protein ligase activity; negative regulation of protein kinase activity; negative regulation of phosphorylation; positive regulation of transcription from RNA polymerase II promoter; mitotic cell cycle; negative regulation of cell growth; positive regulation of DNA damage response, signal transduction by p53 class mediator; negative regulation of transcription, DNA-dependent; rRNA processing; G1/S transition of mitotic cell cycle

Disease: Melanoma-astrocytoma Syndrome; Melanoma, Cutaneous Malignant, Susceptibility To, 2; Li-fraumeni Syndrome 1; Melanoma-pancreatic Cancer Syndrome