GeneID: 470


Common Name: BAP1 Type: Gene
Chromosome: 3 (NC_000003.12) Locus: NG_031859.1 (BAP1)
HUGO Symbol: BAP1 Full Name: BRCA1 associated protein 1
Exons: 17 Introns: 16

The BAP1 gene encodes a protein called ubiquitin carboxyl-terminal hydrolase BAP1 (shortened to BAP1), which belongs to the wider family of deubiquitinating enzymes. It plays a role in diverse cellular processes, since ubiquitination can mediate protein apoptosis, modulate protein-protein interactions and regulate cellular localization of proteins, among others. BAP1 functions as a general transcriptional activator via deubiquitination of H2AK119Ub (an abundant histone modification) and other epigenetic/transcription factors (such as KLF5, DNMT1, NCoR1 and PGC1-α). BPA1 is a component of the DRED (direct repeat erythroid-definitive) repressor complex whose deubiquitinase activity maintains NCoR1 (an adaptor for the DRED complex) [GeneID: 471] at sites in the β-globin locus. DRED binds directly to DR1 elements in embryonic and fetal gene promoters and represses γ-globin transcription in definitive adult erythroid cells. BAP1 inhibition in erythroid cells (via shRNAs or CRISPR-Cas editing of HUDEP-2 cells) massively induced γ-globin synthesis, indicating that BAP1 is a candidate modulator of fetal haemoglobin (HbF) and that inhibition of BAP1 deubiquitinase activity may serve as a novel therapeutic target for γ-globin induction.

Synonyms: UCHL2 , hucep-6 , HUCEP-13


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Publications / Origin

  1. Yu L, Jearawiriyapaisarn N, Lee MP, Hosoya T, Wu Q, Myers G, Lim KC, Kurita R, Nakamura Y, Vojtek AB, Rual JF, Engel JD, BAP1 regulation of the key adaptor protein NCoR1 is critical for γ-globin gene repression., Genes Dev, 32(23), 1537-1549, 2018 PubMed
  2. Szczepanski AP, Wang L, Emerging multifaceted roles of BAP1 complexes in biological processes., Cell Death Discov, 7(1), 20, 2021 PubMed
Created on 2022-02-11 15:16:40, Last reviewed on (Show full history)

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