Reviewed,
UniProtKB/Swiss-Prot Q92560 (BAP1_HUMAN)
Last modified
June 16, 2009.
Version 69.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
Customize display | text xml rdf/xml gff fasta |
Names and origin
| Protein names | Recommended name: Ubiquitin carboxyl-terminal hydrolase BAP1 EC=3.4.19.12 Alternative name(s): BRCA1-associated protein 1 Cerebral protein 6 | ||||||
| Gene names |
| ||||||
| Organism | Homo sapiens (Human) | ||||||
| Taxonomic identifier | 9606 [NCBI] | ||||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 729 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Deubiquitinating enzyme which may be involved in BRCA1 signal transduction pathway. Ref.1 |
| Catalytic activity | Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal). Ref.1 |
| Subunit structure | Interacts with the RING finger domain of BRCA1. Ref.1 |
| Subcellular location | |
| Tissue specificity | Highly expressed in testis, placenta and ovary. Expressed in breast. Ref.1 |
| Post-translational modification | Phosphorylated upon DNA damage, probably by ATM or ATR. Ref.7 Ref.8 Ref.9 |
| Involvement in disease | Defects in BAP1 are found in non-small cell lung cancer (NSCLC) cell lines. Ref.1 Ref.6 Tumor-associated antigen found in several childhood medulloblastoma. Ref.1 Ref.6 |
| Sequence similarities | Belongs to the peptidase C12 family. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Ubl conjugation pathway |
| Cellular component | Nucleus |
| Coding sequence diversity | Polymorphism |
| Domain | Coiled coil |
| Molecular function | Hydrolase Protease Thiol protease |
| PTM | Phosphoprotein |
| Gene Ontology (GO) | |
| Biological process | negative regulation of cell proliferation Ref.1 Traceable author statement. Source: ProtInc protein modification process Ref.1Non-traceable author statement. Source: UniProtKB ubiquitin-dependent protein catabolic processInferred from electronic annotation. Source: InterPro |
| Cellular component | nucleus Ref.1 Traceable author statement. Source: ProtInc |
| Molecular function | cysteine-type peptidase activity Inferred from electronic annotation. Source: UniProtKB-KW protein binding Ref.1Inferred from physical interaction. Source: IntAct ubiquitin thiolesterase activityInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| BRCA1 | P38398 | 1 | EBI-1791447,EBI-349905 | |
| BRCA1 | P38398-5 | 1 | EBI-1791447,EBI-2015072 |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 729 | 729 | Ubiquitin carboxyl-terminal hydrolase BAP1 | PRO_0000211069 | |||||
Regions | |||||||||
| Region | 596 – 721 | 126 | Interaction with BRCA1 | ||||||
| Coiled coil | 630 – 661 | 32 | Potential | ||||||
Sites | |||||||||
| Active site | 91 | 1 | |||||||
| Active site | 169 | 1 | By similarity | ||||||
| Active site | 184 | 1 | By similarity | ||||||
Amino acid modifications | |||||||||
| Modified residue | 395 | 1 | Phosphoserine Ref.9 | ||||||
| Modified residue | 487 | 1 | Phosphothreonine Ref.7 | ||||||
| Modified residue | 489 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 583 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 592 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 597 | 1 | Phosphoserine Ref.8 | ||||||
Natural variations | |||||||||
| Natural variant | 616 | 1 | V → E: dbSNP rs35353781. | VAR_051517 | |||||
Experimental info | |||||||||
| Mutagenesis | 91 | 1 | C → S: Abolishes enzymatic activity. Ref.1 | ||||||
| Mutagenesis | 691 | 1 | L → P: Abolishes interaction with BRCA1. Ref.1 | ||||||
Sequences
| ||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression." Jensen D.E., Proctor M., Marquis S.T., Gardner H.P., Ha S.I., Chodosh L.A., Ishov A.M., Tommerup N., Vissing H., Sekido Y., Minna J., Borodovsky A., Schultz D.C., Wilkinson K.D., Maul G.G., Barlev N., Berger S., Prendergast G.C., Rauscher F.J. III Oncogene 16:1097-1112(1998) [PubMed: 9528852] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], ENZYME ACTIVITY, FUNCTION, MUTAGENESIS OF CYS-91 AND LEU-691, INTERACTION WITH BRCA1, TISSUE SPECIFICITY, DISEASE, SUBCELLULAR LOCATION. Tissue: B-cell. |
| [2] | "Biological functions of a novel human gene, hucep-6, which is specifically expressed in the central nervous system." Yoshimoto M., Yazaki M., Takayama K., Matsumoto K. Submitted (NOV-1996) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Brain. |
| [3] | "Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain." Nagase T., Seki N., Ishikawa K., Ohira M., Kawarabayasi Y., Ohara O., Tanaka A., Kotani H., Miyajima N., Nomura N. DNA Res. 3:321-329(1996) [PubMed: 9039502] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain. |
| [4] | "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones." Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T. DNA Res. 9:99-106(2002) [PubMed: 12168954] [Abstract] Cited for: SEQUENCE REVISION. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Skin. |
| [6] | "Novel tumor antigens identified by autologous antibody screening of childhood medulloblastoma cDNA libraries." Behrends U., Schneider I., Roessler S., Frauenknecht H., Golbeck A., Lechner B., Eigenstetter G., Zobywalski C., Mueller-Weihrich S., Graubner U., Schmid I., Sackerer D., Spaeth M., Goetz C., Prantl F., Asmuss H.-P., Bise K., Mautner J. Int. J. Cancer 106:244-251(2003) [PubMed: 12800201] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 164-729, DISEASE. Tissue: Medulloblastoma. |
| [7] | "Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-487 AND SER-489, MASS SPECTROMETRY. Tissue: Epithelium. |
| [8] | "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed: 17525332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-583; SER-592 AND SER-597, MASS SPECTROMETRY. |
| [9] | "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed: 18220336] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-395, MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AF045581 mRNA. Translation: AAC15970.1. D88812 mRNA. Translation: BAB46921.1. D87462 mRNA. Translation: BAA13401.2. Different initiation. BC001596 mRNA. Translation: AAH01596.1. AY130008 mRNA. Translation: AAN05092.1. | |
| IPI | IPI00465087. |
| RefSeq | NP_004647.1. |
| UniGene | Hs.106674 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q92560. 2 interactions. |
Protein family/group databases | |
| MEROPS | C12.004. |
PTM databases | |
| PhosphoSite | Q92560. |
Proteomic databases | |
| PRIDE | Q92560. |
Genome annotation databases | |
| Ensembl | ENSG00000163930. Homo sapiens. [Contig view] |
| GeneID | 8314. |
| KEGG | hsa:8314. |
Organism-specific databases | |
| GeneCards | GC03M052410. |
| H-InvDB | HIX0003355. |
| HGNC | HGNC:950. BAP1. |
| HPA | CAB004322. |
| MIM | 603089. gene. |
| PharmGKB | PA25254. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | Q92560. |
| HOVERGEN | Q92560. |
| OMA | Q92560. PTPSNES. |
Enzyme and pathway databases | |
| BRENDA | 3.4.19.12. 247. |
Gene expression databases | |
| ArrayExpress | Q92560. |
| Bgee | Q92560. |
| CleanEx | HS_BAP1. |
| GermOnline | ENSG00000163930. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001578. Peptidase_C12. [Graphical view] |
| Gene3D | G3DSA:3.40.532.10. Peptidase_C12. 1 hit. |
| PANTHER | PTHR10589. Peptidase_C12. 1 hit. |
| Pfam | PF01088. Peptidase_C12. 1 hit. [Graphical view] |
| PRINTS | PR00707. UBCTHYDRLASE. |
| ProDom | PD350662. Peptidase_C12. 1 hit. [Graphical view] [Entries sharing at least one domain] |
| PROSITE | PS00140. UCH_1. False negative. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 31137. |
| SOURCE | Search... |
Entry information
| Entry name | BAP1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q92560 Secondary accession number(s): Q6LEM0, Q7Z5E8 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 3 Human chromosome 3: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| Peptidase families Classification of peptidase families and list of entries |
| SIMILARITY comments Index of protein domains and families |

Clusters with


