基因名称(Gene Name)
C14orf118 KIAA1152
免疫原
Synthesized peptide derived from human CN118 AA range: 41-91
特异性
This antibody detects endogenous levels of CN118 at Human
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
背景
This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma. [provided by RefSeq, May 2013],
功能
catalytic activity:Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).,disease:Defects in BAP1 are found in non-small cell lung cancer (NSCLC) cell lines.,disease:Tumor-associated antigen found in several childhood medulloblastoma.,function:Deubiquitinating enzyme which may be involved in BRCA1 signal transduction pathway.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Belongs to the peptidase C12 family.,subunit:Interacts with the RING finger domain of BRCA1.,tissue specificity:Highly expressed in testis, placenta and ovary. Expressed in breast.,
