BAP1
Ubiquitin carboxyl-terminal hydrolase BAP1
Also known as: BAP1_HUMAN, hucep-6, KIAA0272, UCHL2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q92560
- Gene
- BAP1
- Ensembl
- ENSG00000163930
- Chromosome
- 3
- Canonical length
- 729 aa
- Protein class
- Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
729 residues, UniProt reviewed canonical sequence.
>Q92560|BAP1
1 MNKGWLELES DPGLFTLLVE DFGVKGVQVE EIYDLQSKCQ GPVYGFIFLF KWIEERRSRR
61 KVSTLVDDTS VIDDDIVNNM FFAHQLIPNS CATHALLSVL LNCSSVDLGP TLSRMKDFTK
121 GFSPESKGYA IGNAPELAKA HNSHARPEPR HLPEKQNGLS AVRTMEAFHF VSYVPITGRL
181 FELDGLKVYP IDHGPWGEDE EWTDKARRVI MERIGLATAG EPYHDIRFNL MAVVPDRRIK
241 YEARLHVLKV NRQTVLEALQ QLIRVTQPEL IQTHKSQESQ LPEESKSASN KSPLVLEANR
301 APAASEGNHT DGAEEAAGSC AQAPSHSPPN KPKLVVKPPG SSLNGVHPNP TPIVQRLPAF
361 LDNHNYAKSP MQEEEDLAAG VGRSRVPVRP PQQYSDDEDD YEDDEEDDVQ NTNSALRYKG
421 KGTGKPGALS GSADGQLSVL QPNTINVLAE KLKESQKDLS IPLSIKTSSG AGSPAVAVPT
481 HSQPSPTPSN ESTDTASEIG SAFNSPLRSP IRSANPTRPS SPVTSHISKV LFGEDDSLLR
541 VDCIRYNRAV RDLGPVISTG LLHLAEDGVL SPLALTEGGK GSSPSIRPIQ GSQGSSSPVE
601 KEVVEATDSR EKTGMVRPGE PLSGEKYSPK ELLALLKCVE AEIANYEACL KEEVEKRKKF
661 KIDDQRRTHN YDEFICTFIS MLAQEGMLAN LVEQNISVRR RQGVSIGRLH KQRKPDRRKR
721 SRPYKAKRQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against BAP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.49
- Highest tissue expression
- 148 nTPM
Expression across tissuesHPA
Tissue
- hippocampal formation: 148 nTPM
- cerebral cortex: 138 nTPM
- testis: 133 nTPM
- amygdala: 118 nTPM
- basal ganglia: 96 nTPM
- skeletal muscle: 71 nTPM
Single-cell type
- early spermatids: 109 nCPM
- late primary spermatocytes: 66 nCPM
- late spermatids: 61 nCPM
- hepatocytes: 36 nCPM
- esophageal basal cells: 31 nCPM
- basal keratinocytes: 29 nCPM
Immune cell
- neutrophil: 7.4 nTPM
- plasmacytoid DC: 5.6 nTPM
- gdT-cell: 5.5 nTPM
- eosinophil: 5.4 nTPM
- memory CD8 T-cell: 4.4 nTPM
- memory CD4 T-cell: 4.3 nTPM
Brain region
- hippocampal formation: 124 nTPM
- cerebral cortex: 114 nTPM
- amygdala: 89 nTPM
- basal ganglia: 84 nTPM
- thalamus: 74 nTPM
- white matter: 72 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about BAP1.
Disease | AllUniProt
Conditions BAP1 is implicated in, by any mechanism.
- Mesothelioma, malignant (MESOM) MIM:156240
- Tumor predisposition syndrome 1 (TPDS1) MIM:614327
- Melanoma, uveal, 2 (UVM2) MIM:606661
- Kury-Isidor syndrome (KURIS) MIM:619762
Disease | GeneticClinVar
429 pathogenic / likely-pathogenic of 3,570 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- BAP1-related tumor predisposition syndrome
- Hereditary cancer-predisposing syndrome
- Kury-Isidor syndrome
- Melanoma, uveal, susceptibility to, 2
- Neoplasm
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.28
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 2.64
- DepMap mean gene effect
- -0.42
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- common myeloid progenitor cell proliferation
- erythrocyte maturation
- gene expression
- hematopoietic stem cell homeostasis
- heterochromatin formation
- in utero embryonic development
- leukocyte proliferation
- macrophage homeostasis
- mitotic cell cycle
- monoubiquitinated protein deubiquitination
- myeloid cell apoptotic process
- negative regulation of cell population proliferation
- negative regulation of DNA-templated transcription
- neuron cellular homeostasis
- neutrophil differentiation
- platelet morphogenesis
- positive regulation of protein targeting to mitochondrion
- protein deubiquitination
- protein K48-linked deubiquitination
- protein modification process
- regulation of cell cycle
- regulation of cell growth
- regulation of cytokine production involved in inflammatory response
- regulation of inflammatory response
- tissue homeostasis
- ubiquitin-dependent protein catabolic process
- nucleate erythrocyte differentiation
- thrombocyte differentiation
Molecular functions
- chromatin binding
- chromatin DNA binding
- cysteine-type deubiquitinase activity
- histone H2A deubiquitinase activity
- peptidase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of BAP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads BAP1 as an antibody target. Whether an autoantibody or antibody against BAP1 could matter depends on whether native BAP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BAP1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label BAP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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