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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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BAP1
BRCA1 associated deubiquitinase 1
Chromosome 3 Β· 3p21.1
NCBI Gene: 8314Ensembl: ENSG00000163930.10HGNC: HGNC:950UniProt: F8W6N3
417PubMed Papers
24Diseases
0Drugs
413Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneProtease
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
PR-DUB complexnucleusnucleoplasmregulation of cell growthBAP1-related tumor predisposition syndromeKury-Isidor syndromeUveal MelanomaPleural Mesothelioma
✦AI Summary

BAP1 (BRCA1 Associated Protein 1) is a deubiquitinating enzyme that functions as a tumor suppressor through multiple nuclear and cytoplasmic mechanisms. In the nucleus, BAP1 serves as the catalytic component of the polycomb repressive deubiquitinase (PR-DUB) complex, specifically mediating deubiquitination of histone H2A monoubiquitinated at lysine 120 (H2AK119ub1) 1. This epigenetic activity regulates gene expression by antagonizing PRC1-mediated chr3 modifications. BAP1 also deubiquitinates HCFC1, contributing to cell growth regulation 2. In the cytoplasm, BAP1 suppresses ferroptosis by repressing SLC7A11 expression, which controls cystine uptake and lipid peroxidation, thereby linking metabolic regulation to tumor suppression 1. Additionally, BAP1 can be modified by UFMylation, enhancing its interaction with and stabilization of the von Hippel-Lindau tumor suppressor protein (pVHL) 3. Germline BAP1 mutations cause a hereditary tumor predisposition syndrome associated with uveal melanoma, malignant mesothelioma, renal cell carcinoma, and cutaneous melanoma 4. Loss of BAP1 expression serves as a diagnostic biomarker for mesothelioma in situ and malignant mesothelioma 5. BAP1's context-dependent functions make it critical for tumor suppression across multiple cancer types.

Sources cited
1
BAP1 mediates H2A deubiquitination and suppresses ferroptosis by repressing SLC7A11 expression
PMID: 30202049
2
BAP1 is a tumor suppressor involved in DNA damage repair, apoptosis, ferroptosis, and immune response
PMID: 39842618
3
BAP1 undergoes UFMylation modification that enhances its interaction with and stabilization of pVHL
PMID: 40644555
4
Germline BAP1 mutations cause hereditary cancer syndrome affecting uveal melanoma, mesothelioma, and renal cell carcinoma
PMID: 32690542
5
Loss of BAP1 expression serves as diagnostic biomarker for mesothelioma in situ and malignant mesothelioma
PMID: 34465883
Disease Associationsβ“˜24
BAP1-related tumor predisposition syndromeOpen Targets
0.82Strong
Kury-Isidor syndromeOpen Targets
0.79Strong
Uveal MelanomaOpen Targets
0.79Strong
Pleural MesotheliomaOpen Targets
0.66Moderate
clear cell renal carcinomaOpen Targets
0.61Moderate
hereditary neoplastic syndromeOpen Targets
0.58Moderate
Inherited cancer-predisposing syndromeOpen Targets
0.58Moderate
hepatocellular carcinomaOpen Targets
0.53Moderate
Neurodevelopmental disorderOpen Targets
0.52Moderate
cholangiocarcinomaOpen Targets
0.50Moderate
Malignant MesotheliomaOpen Targets
0.48Moderate
cutaneous melanomaOpen Targets
0.45Moderate
renal cell carcinomaOpen Targets
0.45Moderate
cervical squamous cell carcinomaOpen Targets
0.44Moderate
meningiomaOpen Targets
0.39Weak
Peritoneal MesotheliomaOpen Targets
0.38Weak
malignant epithelioid mesotheliomaOpen Targets
0.37Weak
Pleural Epithelioid MesotheliomaOpen Targets
0.37Weak
bile duct carcinomaOpen Targets
0.37Weak
bile duct adenocarcinomaOpen Targets
0.37Weak
Kury-Isidor syndromeUniProt
Melanoma, uveal, 2UniProt
Mesothelioma, malignantUniProt
Tumor predisposition syndrome 1UniProt
Pathogenic Variants413
NM_004656.4(BAP1):c.1117-1G>ALikely pathogenic
Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome|not provided
β˜…β˜…β˜†β˜†2026
NM_004656.4(BAP1):c.178C>T (p.Arg60Ter)Pathogenic
BAP1-related tumor predisposition syndrome|not provided|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 60
NM_004656.4(BAP1):c.118C>T (p.Gln40Ter)Pathogenic
BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 40
NM_004656.4(BAP1):c.1153C>T (p.Arg385Ter)Pathogenic
Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 385
NM_004656.4(BAP1):c.581-2A>GPathogenic
BAP1-related tumor predisposition syndrome|not provided
β˜…β˜…β˜†β˜†2025
NM_004656.4(BAP1):c.1835del (p.Lys612fs)Pathogenic
BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 612
NM_004656.4(BAP1):c.1063C>T (p.Gln355Ter)Pathogenic
Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 355
NM_004656.4(BAP1):c.510dup (p.Val171fs)Pathogenic
BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 171
NM_004656.4(BAP1):c.458del (p.Pro153fs)Pathogenic
Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 153
NM_004656.4(BAP1):c.1690del (p.Leu564fs)Pathogenic
BAP1-related tumor predisposition syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 564
NM_004656.4(BAP1):c.1777C>T (p.Gln593Ter)Pathogenic
not provided|BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 593
NM_004656.4(BAP1):c.1938T>A (p.Tyr646Ter)Pathogenic
BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome;Melanoma, uveal, susceptibility to, 2;Kury-Isidor syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 646
NM_004656.4(BAP1):c.375+1G>APathogenic
not provided|Hereditary cancer-predisposing syndrome|Clear cell carcinoma of kidney|BAP1-related tumor predisposition syndrome
β˜…β˜…β˜†β˜†2025
NM_004656.4(BAP1):c.1464del (p.Ser489fs)Pathogenic
BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 489
NM_004656.4(BAP1):c.1375del (p.Leu459fs)Pathogenic
Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 459
NM_004656.4(BAP1):c.437+1G>TPathogenic
BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025
NM_004656.4(BAP1):c.1975A>T (p.Lys659Ter)Pathogenic
BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 659
NM_004656.4(BAP1):c.1203_1214del (p.Tyr401_Glu405delinsTer)Pathogenic
BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 401
NM_004656.4(BAP1):c.123-10_129delLikely pathogenic
Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome
β˜…β˜…β˜†β˜†2025
NM_004656.4(BAP1):c.639dup (p.Ile214fs)Pathogenic
BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 214
View on ClinVar β†—
Related Genes
PSMD4Protein interaction100%ADRM1Protein interaction100%EZH2Protein interaction100%SUZ12Protein interaction100%CBX8Protein interaction100%BARD1Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
49%
Lung
44%
Heart
43%
Ovary
41%
Brain
39%
Gene Interaction Network
Click a node to explore
BAP1PSMD4ADRM1EZH2SUZ12CBX8BARD1
PROTEIN STRUCTURE
Preparing viewer…
PDB8H1T Β· 3.00 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.32Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.21 [0.14–0.32]
RankingsWhere BAP1 stands among ~20K protein-coding genes
  • #682of 20,598
    Most Researched417 Β· top 5%
  • #134of 5,498
    Most Pathogenic Variants413 Β· top 5%
  • #1,321of 17,882
    Most Constrained (LOEUF)0.32 Β· top 10%
Genes detectedBAP1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Pleural mesothelioma classification-update and challenges.
PMID: 34465883
Mod Pathol Β· 2022
1.00
2
BAP1 links metabolic regulation of ferroptosis to tumour suppression.
PMID: 30202049
Nat Cell Biol Β· 2018
0.90
3
An overview of BAP1 biological functions and current therapeutics.
PMID: 39842618
Biochim Biophys Acta Rev Cancer Β· 2025
0.80
4
Malignant blue melanoma.
PMID: 39260463
Clin Dermatol Β· 2025
0.70
5
[Malignant mesothelioma and constitutional BAP1 gene mutations].
PMID: 30686559
Rev Mal Respir Β· 2019
0.64