Homo sapiens Gene: BAP1 | |||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Summary | |||||||||||||||||||||||
InnateDB Gene | IDBG-38830.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | BAP1 | ||||||||||||||||||||||
Gene Name | BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) | ||||||||||||||||||||||
Synonyms | HUCEP-13; UCHL2 | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Gene | ENSG00000163930 | ||||||||||||||||||||||
Encoded Proteins |
BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
|
||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||
Summary |
The protein encoded by this gene localizes to the nucleus and it interacts with the RING finger domain of the breast cancer 1, early onset protein (BRCA1). This gene is thought to be a tumor suppressor gene that functions in the BRCA1 growth control pathway. There are multiple polyadenylation sites found in this gene. [provided by RefSeq, Jul 2008] 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] |
||||||||||||||||||||||
Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 3:52401013-52410350 | ||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||
Band | p21.1 | ||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 60 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
|
||||||||||||||||||||||
Gene Ontology | |||||||||||||||||||||||
Molecular Function |
|
||||||||||||||||||||||
Biological Process |
|
||||||||||||||||||||||
Cellular Component |
|
||||||||||||||||||||||
Orthologs | |||||||||||||||||||||||
Species
Mus musculus
Bos taurus
|
Gene ID
Gene Order
Not yet available
|
||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||
UniGene | Hs.106674 Hs.622728 | ||||||||||||||||||||||
RefSeq | NM_004656 | ||||||||||||||||||||||
HUGO | |||||||||||||||||||||||
OMIM | |||||||||||||||||||||||
CCDS | CCDS2853 | ||||||||||||||||||||||
HPRD | 04366 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | |||||||||||||||||||||||
GenPept | |||||||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||||||