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BAP1 information


BAP1
Identifiers
AliasesBAP1, HUCEP-13, UCHL2, hucep-6, BRCA1 associated protein 1, KURIS
External IDsOMIM: 603089; MGI: 1206586; HomoloGene: 3421; GeneCards: BAP1; OMA:BAP1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004656

NM_027088

RefSeq (protein)

NP_004647

NP_081364

Location (UCSC)Chr 3: 52.4 – 52.41 MbChr 14: 30.97 – 30.98 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) is a deubiquitinating enzyme that in humans is encoded by the BAP1 gene.[5][6] BAP1 encodes an 80.4 kDa nuclear-localizing protein with a ubiquitin carboxy-terminal hydrolase (UCH) domain that gives BAP1 its deubiquitinase activity.[5] Recent studies have shown that BAP1 and its fruit fly homolog, Calypso, are members of the polycomb-group proteins (PcG) of highly conserved transcriptional repressors required for long-term silencing of genes that regulate cell fate determination, stem cell pluripotency, and other developmental processes.[7]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000163930 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021901 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b Jensen DE, Proctor M, Marquis ST, Gardner HP, Ha SI, Chodosh LA, Ishov AM, Tommerup N, Vissing H, Sekido Y, Minna J, Borodovsky A, Schultz DC, Wilkinson KD, Maul GG, Barlev N, Berger SL, Prendergast GC, Rauscher FJ (Mar 1998). "BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression". Oncogene. 16 (9): 1097–112. doi:10.1038/sj.onc.1201861. PMID 9528852. S2CID 1019611.
  6. ^ "Entrez Gene: BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)".
  7. ^ Gaytán de Ayala Alonso A, Gutiérrez L, Fritsch C, Papp B, Beuchle D, Müller J (Aug 2007). "A genetic screen identifies novel polycomb group genes in Drosophila". Genetics. 176 (4): 2099–108. doi:10.1534/genetics.107.075739. PMC 1950617. PMID 17717194.

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BAP1

Last Update:

by the BAP1 gene. BAP1 encodes an 80.4 kDa nuclear-localizing protein with a ubiquitin carboxy-terminal hydrolase (UCH) domain that gives BAP1 its deubiquitinase...

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Uveal melanoma

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tumor stage or later metastatic spread. In contrast, mutations in the gene BAP1 are strongly linked to metastatic spread and patient survival. Incidence...

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Mesothelioma

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population in 2012, it was found that people with a germline mutation in their BAP1 gene are at higher risk of developing mesothelioma and uveal melanoma. Erionite...

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Ubiquitin

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activity. BRCA1 could form dimer with other molecules, such as BARD1 and BAP1, for its ubiquitylation activity. Mutations that affect the ligase function...

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The Cancer Genome Atlas

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prognosis, Wnt-altered subtype Cholangiocarcinoma 38 Low expression of CDKN2, BAP1, and ARID1 genes and overexpression of FGFR2 and IDH1/2 genes; four subtypes...

Word Count : 7468

KDM1B

Last Update:

Milot E, Shi Y, Affar el B (Nov 2010). "The ubiquitin carboxyl hydrolase BAP1 forms a ternary complex with YY1 and HCF-1 and is a critical regulator of...

Word Count : 376

Frank Rauscher III

Last Update:

Drobetsky E, Milot E, Shi Y, Affar EB., The ubiquitin carboxyl hydrolase BAP1 forms a ternary complex with YY! and HCF-1 and is a critical regulator of...

Word Count : 489

Choroidal nevus

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identified to be associated with metastasis in uveal melanomas. Moreover BAP1, GNAQ, GNA11, SF3B1 and EIF1AX gene alterations were shown to be in correlation...

Word Count : 2688

List of geneticists

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mesothelioma biologist whose team cloned AKT genes and co-discovered the BAP1 tumor predisposition syndrome Eeva Therman (1916–2004), Finnish-born US geneticist...

Word Count : 7876

MAGI1

Last Update:

MAGI1 Identifiers Aliases MAGI1, AIP-3, AIP3, BAIAP1, BAP-1, BAP1, MAGI-1, Magi1d, TNRC19, WWP3, membrane associated guanylate kinase, WW and PDZ domain...

Word Count : 1322

Adenomatoid tumor

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They are negative for MOC31, BerEP4, and vascular markers (CD31 or CD34). BAP1 expression is retained. L1 cell adhesion molecule (L1CAM), a marker of NF-kB...

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Papillary renal cell carcinoma

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metastasis. Moreover, mutation of gene involved in chromatin remodeling (SETD2, BAP1, or PBRM) may lead to higher rate of TFE3/TFEB fusion. Additionally, CIMP...

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PBRM1

Last Update:

N, Do QN, et al. (August 2017). "Modeling Renal Cell Carcinoma in Mice: Bap1 and Pbrm1 Inactivation Drive Tumor Grade". Cancer Discovery. 7 (8): 900–917...

Word Count : 1300

Host cell factor C1

Last Update:

cobalamine metabolism. Host cell factor C1 has been shown to interact with: BAP1, CREB3, GABPA, HDAC1, HDAC2, MLL, OGT, PDCD2, POU2F1, PPP1CA, SIN3A, SP1...

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Deubiquitinating enzyme

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(ATXN3, ATXN3L) the ubiquitin C-terminal hydrolase (UCH) superfamily; (BAP1, UCHL1, UCHL3, UCHL5) the MINDY family of K48-specific deubiquitinases; (MINDY1...

Word Count : 4318

Sandro Santagata

Last Update:

M.; Brewster, Ryan; Bi, Wenya Linda (2017-04-01). "Germline and somatic BAP1 mutations in high-grade rhabdoid meningiomas". Neuro-Oncology. 19 (4): 535–545...

Word Count : 1492

RNF2

Last Update:

RNF2 Identifiers Aliases RNF2, BAP-1, BAP1, DING, HIPI3, RING1B, RING2, ring finger protein 2, ring1B, LUSYAM External IDs OMIM: 608985; MGI: 1101759;...

Word Count : 1107

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