Rabbit anti-Human BRAT1 Polyclonal Antibody | anti-BRAT1 antibody
BRAT1 Polyclonal Antibody
Western Blot (WB)
(Western blot analysis of extracts of various cell lines, using Brat1 antibody at 1:3000 dilution.Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (MBS128200) at 1:10000 dilution.Lysates/proteins: 25ug per lane.Blocking buffer: 3% nonfat dry milk in TBST.Detection: ECL Basic Kit.Exposure time: 30s.)
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this ubiquitously expressed gene interacts with the tumor suppressing BRCA1 (breast cancer 1) protein and and the ATM (ataxia telangiectasia mutated) protein. ATM is thought to be a master controller of cell cycle checkpoint signalling pathways that are required for cellular responses to DNA damage such as double-strand breaks that are induced by ionizing radiation and complexes with BRCA1 in the multi-protein complex BASC (BRAC1-associated genome surveillance complex). The protein encoded by this gene is thought to play a role in the DNA damage pathway regulated by BRCA1 and ATM. [provided by RefSeq, Mar 2012]
Uniprot Description
BRAT1: Required for activation of ATM following ionizing radiation. May act by regulating dephosphorylation of ATM. Defects in BRAT1 are the cause of rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL). A lethal, neonatal, neurologic disorder characterized by episodic jerking that is apparent in utero, lack of psychomotor development, axial and limb rigidity, frequent multifocal seizures, and dysautonomia. At birth, affected individuals have small heads, overlapping cranial sutures, small or absent fontanels, and depressed frontal bones. Infants show poorly responsive focal jerks of the tongue, face and arms in a nearly continuous sequence throughout life. 3 isoforms of the human protein are produced by alternative splicing.
Chromosomal Location of Human Ortholog: 7p22.3
Cellular Component: cytoplasm; membrane; nucleoplasm; nucleus
Molecular Function: protein binding
Biological Process: apoptosis; cell growth; cell migration; cell proliferation; glucose metabolic process; mitochondrion localization; positive regulation of protein amino acid phosphorylation; response to DNA damage stimulus; response to ionizing radiation
Disease: Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal