UCHL2, Deubikitinaaseista(DUB) BAP1 (3p21.q)

https://www.ncbi.nlm.nih.gov/gene/?term=BAP1

Also known as

UCHL2; hucep-6; HUCEP-13

Summary

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, RNF53) 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]

Expression

Ubiquitous expression in testis (RPKM 47.8), skin (RPKM 26.6) and 25 other tissues See more

Preferred Names

ubiquitin carboxyl-terminal hydrolase BAP1

Names

BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)

cerebral protein 6

cerebral protein-13

 Structure, history https://www.ncbi.nlm.nih.gov/protein/NP_004647.1

 

 TITLE     BAP1 complex promotes transcription by opposing PRC1-mediated H2A
            ubiquitylation
  JOURNAL   Nat Commun 10 (1), 348 (2019)
   PUBMED   30664650
  REMARK    GeneRIF: BAP1 complex promotes transcription by opposing
            PRC1-mediated H2A ubiquitylation.
            Publication Status: Online-Only TÄSTÄ LISÄYS UUSINTA TIETOA 

 

Conserved Domains (1) summary

cd09617
Location:5 → 233

Peptidase_C12_UCH37_BAP1; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families UCH37 (UCH-L5) and BAP1

Related articles in PubMed
 BAP1 Status Determines the Sensitivity of Malignant Mesothelioma Cells to Gemcitabine Treatment. Guazzelli A, et al. Int J Mol Sci, 2019 Jan 19. PMID 30669483, Free PMC
 Article

BAP1 gene mutations in Egyptian patients with advanced sporadic malignant pleural mesothelioma (MPM): relation with clinical outcomes and survival. Bahnasy AA, et al. Cancer Genet, 2018 Dec. PMID 30553477

Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma. Ewens KG, et al. BMC Cancer, 2018 Nov 26. PMID 30477459, Free PMC Article

BAP1 regulation of the key adaptor protein NCoR1 is critical for γ-globin gene repression. Yu L, et al. Genes Dev, 2018 Dec 1. PMID 30463901,
 Loss of BAP1 expression in metastatic tumor tissue is an event of poor prognosis in patients with metastatic clear cell renal cell carcinoma. da Costa WH, et al. Urol Oncol, 2019 Jan. PMID 30446457

See all (237) citations in PubMed See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

.. presence of BAP1 mutations associated significantly with BAP1 protein expression, the incidence of organ metastasis, progression free survival after second line treatment and clinical response after second line treatment only
..  The results of this study provide new insight into BAP1 status and changes of sensitivity to the DNA damaging agent gemcitabine, widely used in second-line therapy for MMe.
.. findings showed that genetic mutations are involved in BAP1 down-regulation, leading to promotion of the invasive character of cancer cells and poor prognosis in gallbladder cancer
.. Data link the tumour suppressor BRCA1-associated protein 1 (BAP1) to metabolism-related biological processes.
.. The deubiquitinase BRCA1-associated protein-1 (BAP1) is a component of the repressor complex whose activity maintains NCoR1 at sites in the beta-globin locus, and BAP1 inhibition in erythroid cells massively induces gamma-globin synthesis.
.. Patients with metastatic ccRCC that present loss of BAP1 expression in metastatic tissue demonstrated poor survival rates and represent a relevant risk group for tumor recurrence and death.
.. Defining germline vs. somatic nature of BAP1 mutations in UM can inform the individual about both the risk of metastasis, and the time to metastasis, which are critically important outcomes for the individual. This information can also change the cascade screening and surveillance of family members.
-- Loss of BAP1 expression in atypical mesothelial proliferation helps to predict malignant mesothelioma.
.. we show a strong relationship between the expression profiles of PBRM1, BAP1 and SETD2 in ccRCC suggesting reciprocal synergy effects in the context of tumor suppression. Letter: BAP1 expression is not lost in trichoblastomas, whether solitary sporadic or those occurring in the setting of multiple familial trichoepithelioma (MFT)/Brooke-Spiegler syndrome.

LISÄYSTÄ:

Löydän uusinta tietoa 2019: Tähän artikkeliin liittyy kuvia.

Nat Commun. 2019; 10: 348.

Published online 2019 Jan 21. doi: 10.1038/s41467-018-08255-x

PMCID: PMC6341105

PMID: 30664650

BAP1 complex promotes transcription by opposing PRC1-mediated H2A ubiquitylation

Antoine Campagne,^#1,2 Ming-Kang Lee