AlphaFold predicted structure
BAP1 · Q92560
Mean pLDDT
62.9/ 100
Low
729 residues
Confidence breakdown
- Very high(≥ 90)31%
- Confident(70–90)13%
- Low(50–70)10%
- Very low(< 50)47%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
BAP1
Chr 3p21.1BRCA1 associated deubiquitinase 1
- Aliases:
- hucep-6, KIAA0272, UCHL2
- MANE:
- ENST00000460680.6
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult solid tumours cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAdult solid tumours for rare disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownBAP1 associated tumour predisposition syndrome
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownChildhood solid tumours
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFamilial melanoma
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownInherited renal cancer
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Disease associations (Open Targets)
BAP1-related tumor predisposition syndrome
0.83Kury-Isidor syndrome
0.79uveal melanoma
0.75pleural mesothelioma
0.66clear cell renal carcinoma
0.61hereditary neoplastic syndrome
0.58Inherited cancer-predisposing syndrome
0.58hepatocellular carcinoma
0.53neurodevelopmental disorder
0.52cholangiocarcinoma
0.50
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1
Plays a role in coupling actin fibers to cell junctions in endothelial cells, via its interaction with AMOTL2 and CDH5 (By similarity). May regulate acid-induced ASIC3 currents by modulating its expression at the cell surface (By similarity)
Diseases associated with BAP1
Curated MONDO disease pages that list BAP1 among their top associated genes.