BRCA1

GWB-421E15

A synthetic peptide from the human BRCA1 protein corresponding to carboxyl terminal amino acids 1848-1863 (QELDTYLIPQIPHSHY).

HBL100

Nuclear

Anti-serum.

208 kDa. Not tested in other applications. Optimal dilutions/concentrations should be determined by the researcher. Target protein

Nuclear BRCA1 a 220kDa nuclear phosphoprotein is recognized by this antibody. Mutations in the BRCA1 tumor suppressor gene greatly increase the risk of breast cancer. In a high proportion of breast and ovarian cancer cell lines BRCA1 aberrantly mislocates to the cytoplasm. Recent studies suggest BRCA1 also has a role in DNA double strand break repair because of its association with Rad51.

Part of the BRCA1-associated genome surveillance complex (BASC) which contains BRCA1 MSH2 MSH6 MLH1 ATM BLM PMS2 and the RAD50-MRE11-NBN protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts (via BRCT domains) with RBBP8. Associates with RNA polymerase II holoenzyme. Interacts with SMC1A and COBRA1/NELFB. Interacts (via BRCT domains) with BRIP1. Interacts with FANCD2 (ubiquitinated). Interacts with BAP1. Interacts with DCLRE1C/Artemis and CLSPN. Interacts with H2AFX (phosphorylated on \' Ser-140\' ). Interacts with CHEK1/CHK1. Interacts with BRCC3. Interacts (via BRCT domains) with ACACA (phosphorylated); the interaction prevents dephosphorylation of ACACA.

Isoform 3: Cytoplasm.

Isoform 1 and isoform 3 are widely expressed. Isoform 3 is reduced or absent in several breast and ovarian cancer cell lines.

Phosphorylated in response to IR UV and various stimuli that cause checkpoint activation probably by ATM or ATR.

Defects in BRCA1 are a cause of genetic susceptibility to breast cancer (BC) [MIM:113705 114480]. BC is an extremely common malignancy affecting one in eight women during their lifetime. A positive family history has been identified as major contributor to risk of development of the disease and this link is striking for early-onset breast cancer. Mutations in BRCA1 are thought to be responsible for 45% of inherited breast cancer. Moreover BRCA1 carriers have a 4-fold increased risk of colon cancer whereas male carriers face a 3-fold increased risk of prostate cancer. Cells lacking BRCA1 show defects in DNA repair by homologous recombination.

Defects in BRCA1 are a cause of genetic susceptibility to ovarian cancer [MIM:113705].

Contains 1 RING-type zinc finger.