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Rabbit Anti-Phospho-BAP1 (Ser592)/FITC Conjugated antibody
background:
This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability and acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as BASC for BRCA1-associated genome surveillance complex. This gene product associates with RNA polymerase II, and through the SLCterminal domain, also interacts with histone deacetylase complex. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants have been described for this gene but only some have had their full-length natures identified. Transcript Variant: This variant (BRCA1a') uses different splice site in the 5' UTR when compared to variant BRCA1a. It encodes the full-length BRCA1 protein (isoform 1) which is also known as p220. Variants BRCA1a and BRCA1b also encode the full-length BRCA1 protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications.
Function:
Deubiquitinating enzyme that plays a key role in chromatin by mediating deubiquitination of histone H2A and HCFC1. Catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1). Does not deubiquitinate monoubiquitinated histone H2B. Acts as a regulator of cell growth by mediating deubiquitination of HCFC1 N-terminal and SLCterminal chains, with some specificity toward 'Lys-48'-linked polyubiquitin chains compared to 'Lys-63'-linked polyubiquitin chains. Deubiquitination of HCFC1 does not lead to increase stability of HCFC1. Interferes with the BRCA1 and BARD1 heterodimer activity by inhibiting their ability to mediate ubiquitination and autoubiquitination. It however does not mediate deubiquitination of BRCA1 and BARD1. Acts as a tumor suppressor.
Subunit:
Component of the PR-DUB complex, at least composed of BAP1 and ASXL1. Interacts with BRCA1 (via the RING finger). Interacts (via HBM-like motif) with HCFC1.
Subcellular Location:
Cytoplasm. Nucleus. Note=Mainly nuclear. Binds to chromatin.
Tissue Specificity:
Highly expressed in testis, placenta and ovary. Expressed in breast.
Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR.
Similarity:
Belongs to the peptidase C12 family. BAP1 subfamily.
Database links:
Entrez Gene: 8314 Human
Entrez Gene: 306257 Rat
Omim: 603089 Human
SwissProt: Q92560 Human
SwissProt: D3ZHS6 Rat
Unigene: 106674 Human
Unigene: 3382 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
BRCA1基因是最早被发现的乳腺癌易感基因其突变和家族性乳腺癌、卵巢癌的发病有关。
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