Details for: BAP1

Gene ID: 8314

Symbol: BAP1

Ensembl ID: ENSG00000163930

Description: BRCA1 associated deubiquitinase 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 81.8411
    Cell Significance Index: -12.7300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 57.0092
    Cell Significance Index: -14.4600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 34.6332
    Cell Significance Index: -14.0700
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 34.3767
    Cell Significance Index: -16.2300
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 30.1719
    Cell Significance Index: -15.5200
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 24.2913
    Cell Significance Index: -16.3000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 12.6850
    Cell Significance Index: -15.6400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.9914
    Cell Significance Index: -16.0500
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 4.2698
    Cell Significance Index: 70.3600
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 4.1674
    Cell Significance Index: -12.8000
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.1104
    Cell Significance Index: -16.2200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.6575
    Cell Significance Index: 163.9600
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 1.5081
    Cell Significance Index: 3.4000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.0709
    Cell Significance Index: 28.7000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9062
    Cell Significance Index: 147.3900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.8342
    Cell Significance Index: 50.0800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.5589
    Cell Significance Index: 15.6200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.4905
    Cell Significance Index: 216.8600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4865
    Cell Significance Index: 33.6500
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.4759
    Cell Significance Index: 7.6400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4217
    Cell Significance Index: 12.1500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3716
    Cell Significance Index: 8.0500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3603
    Cell Significance Index: 64.9500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.3236
    Cell Significance Index: 64.9200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.3150
    Cell Significance Index: 6.9000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3086
    Cell Significance Index: 13.9900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2702
    Cell Significance Index: 33.2200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2649
    Cell Significance Index: 13.7600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.2546
    Cell Significance Index: 6.9300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2497
    Cell Significance Index: 49.5500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2118
    Cell Significance Index: 29.0900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1894
    Cell Significance Index: 8.8300
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.1639
    Cell Significance Index: 3.0300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1597
    Cell Significance Index: 10.3100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1389
    Cell Significance Index: 75.8400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1202
    Cell Significance Index: 22.8800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1096
    Cell Significance Index: 39.3000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1067
    Cell Significance Index: 13.6800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.0921
    Cell Significance Index: 3.2000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0917
    Cell Significance Index: 10.8100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0814
    Cell Significance Index: 6.0700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0777
    Cell Significance Index: 2.7300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0754
    Cell Significance Index: 5.3400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0710
    Cell Significance Index: 64.1000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0650
    Cell Significance Index: 4.1000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0464
    Cell Significance Index: 6.0000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0352
    Cell Significance Index: 0.7500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0340
    Cell Significance Index: 1.6000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.0293
    Cell Significance Index: 0.8400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.0288
    Cell Significance Index: 0.7700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0270
    Cell Significance Index: 0.7100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.0193
    Cell Significance Index: 0.5500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0105
    Cell Significance Index: 0.5500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0099
    Cell Significance Index: 6.8600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0021
    Cell Significance Index: 3.8900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0001
    Cell Significance Index: -0.0200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0019
    Cell Significance Index: -0.0500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0037
    Cell Significance Index: -6.7700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0052
    Cell Significance Index: -3.8200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0063
    Cell Significance Index: -4.7500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0073
    Cell Significance Index: -11.3000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0081
    Cell Significance Index: -5.1700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0099
    Cell Significance Index: -0.6600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0118
    Cell Significance Index: -16.0500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0196
    Cell Significance Index: -14.5300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0234
    Cell Significance Index: -10.6300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0271
    Cell Significance Index: -15.2800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0291
    Cell Significance Index: -18.1600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0337
    Cell Significance Index: -3.4500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0419
    Cell Significance Index: -0.8700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0436
    Cell Significance Index: -0.7300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0461
    Cell Significance Index: -13.2600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0586
    Cell Significance Index: -6.8300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0587
    Cell Significance Index: -3.6100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0715
    Cell Significance Index: -10.3900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0821
    Cell Significance Index: -1.1200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0870
    Cell Significance Index: -18.3300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0873
    Cell Significance Index: -6.7000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0924
    Cell Significance Index: -10.5900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1310
    Cell Significance Index: -7.3500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1332
    Cell Significance Index: -3.3300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1492
    Cell Significance Index: -15.5400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1499
    Cell Significance Index: -4.8000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1534
    Cell Significance Index: -3.2100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1553
    Cell Significance Index: -12.3000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1632
    Cell Significance Index: -4.1700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2075
    Cell Significance Index: -10.8100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2360
    Cell Significance Index: -10.4400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2620
    Cell Significance Index: -16.0600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.2842
    Cell Significance Index: -4.8700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2845
    Cell Significance Index: -10.7800
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.2909
    Cell Significance Index: -4.0800
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2966
    Cell Significance Index: -3.0700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3073
    Cell Significance Index: -7.9000
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.3257
    Cell Significance Index: -9.5700
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.3405
    Cell Significance Index: -2.2200
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.3565
    Cell Significance Index: -4.0500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3572
    Cell Significance Index: -10.5200
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.3669
    Cell Significance Index: -8.8000
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.3736
    Cell Significance Index: -3.4400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Ubiquitin DUB activity**: BAP1 is a member of the HECT (Hancer E3 Domain) family of DUBs, which are involved in the removal of ubiquitin from target proteins. 2. **DNA damage response**: BAP1 is recruited to DNA double-strand breaks (DSBs) and interacts with ATM and ATR kinases to facilitate the repair of DNA damage. 3. **Cell cycle regulation**: BAP1 regulates the cell cycle by controlling the expression of genes involved in cell growth and proliferation. 4. **Apoptosis**: BAP1 promotes apoptosis by regulating the activity of pro-apoptotic proteins. 5. **Tumor suppression**: BAP1 acts as a tumor suppressor by preventing cancer cell growth and survival. **Pathways and Functions:** 1. **DNA damage response**: BAP1 interacts with ATM and ATR kinases to activate the DNA damage response pathway, which includes the activation of genes involved in DNA repair and cell cycle arrest. 2. **Cell cycle regulation**: BAP1 regulates the expression of genes involved in cell growth and proliferation, including CDKN1A (p21) and CCND1 (cyclin D1). 3. **Apoptosis**: BAP1 promotes apoptosis by regulating the activity of pro-apoptotic proteins, including BAD and BAX. 4. **Histone modification**: BAP1 is involved in the regulation of histone modification, including the removal of ubiquitin from histones. 5. **Protein modification**: BAP1 is involved in the regulation of protein modification, including the removal of ubiquitin from target proteins. **Clinical Significance:** 1. **Cancer predisposition**: Mutations in the BAP1 gene have been implicated in several cancers, including breast, ovarian, and melanoma. 2. **Tumor suppression**: BAP1 acts as a tumor suppressor by preventing cancer cell growth and survival. 3. **Therapeutic target**: BAP1 is a potential therapeutic target for cancer treatment, as its dysregulation has been implicated in cancer development. 4. **Neurological disorders**: BAP1 mutations have been implicated in neurological disorders, including frontotemporal dementia and parkinsonism. 5. **Genetic predisposition**: BAP1 mutations can be inherited, and individuals with a family history of cancer or neurological disorders should be screened for BAP1 mutations. In conclusion, BAP1 is a multifaceted gene that plays a critical role in maintaining genome stability, regulating cellular homeostasis, and preventing cancer. Its dysregulation has been implicated in several cancers and neurological disorders, and its potential as a therapeutic target is being explored. Further research is needed to fully understand the role of BAP1 in human disease and to develop effective therapeutic strategies.

Genular Protein ID: 4235719749

Symbol: BAP1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9528852

Title: BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression.

PubMed ID: 9528852

DOI: 10.1038/sj.onc.1201861

PubMed ID: 9039502

Title: 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.

PubMed ID: 9039502

DOI: 10.1093/dnares/3.5.321

PubMed ID: 12168954

Title: Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.

PubMed ID: 12168954

DOI: 10.1093/dnares/9.3.99

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12800201

Title: Novel tumor antigens identified by autologous antibody screening of childhood medulloblastoma cDNA libraries.

PubMed ID: 12800201

DOI: 10.1002/ijc.11208

PubMed ID: 18220336

Title: Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.

PubMed ID: 18220336

DOI: 10.1021/pr0705441

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 10546591

Title: Defining biochemical functions for the BRCA1 tumor suppressor protein: analysis of the BRCA1 binding protein BAP1.

PubMed ID: 10546591

DOI: 10.1016/s0304-3835(99)90004-6

PubMed ID: 12485996

Title: Activation of the E3 ligase function of the BRCA1/BARD1 complex by polyubiquitin chains.

PubMed ID: 12485996

DOI: 10.1093/emboj/cdf691

PubMed ID: 18757409

Title: BRCA1-associated protein-1 is a tumor suppressor that requires deubiquitinating activity and nuclear localization.

PubMed ID: 18757409

DOI: 10.1158/0008-5472.can-08-0365

PubMed ID: 19117993

Title: BRCA1-associated protein 1 interferes with BRCA1/BARD1 RING heterodimer activity.

PubMed ID: 19117993

DOI: 10.1158/0008-5472.can-08-3355

PubMed ID: 19815555

Title: The deubiquitinating enzyme BAP1 regulates cell growth via interaction with HCF-1.

PubMed ID: 19815555

DOI: 10.1074/jbc.m109.046755

PubMed ID: 19188440

Title: Association of C-terminal ubiquitin hydrolase BRCA1-associated protein 1 with cell cycle regulator host cell factor 1.

PubMed ID: 19188440

DOI: 10.1128/mcb.01517-08

PubMed ID: 20805357

Title: The ubiquitin carboxyl hydrolase BAP1 forms a ternary complex with YY1 and HCF-1 and is a critical regulator of gene expression.

PubMed ID: 20805357

DOI: 10.1128/mcb.00396-10

PubMed ID: 20436459

Title: Histone H2A deubiquitinase activity of the Polycomb repressive complex PR-DUB.

PubMed ID: 20436459

DOI: 10.1038/nature08966

PubMed ID: 24703950

Title: Autodeubiquitination protects the tumor suppressor BAP1 from cytoplasmic sequestration mediated by the atypical ubiquitin ligase UBE2O.

PubMed ID: 24703950

DOI: 10.1016/j.molcel.2014.03.002

PubMed ID: 24748658

Title: The forkhead transcription factor FOXK2 acts as a chromatin targeting factor for the BAP1-containing histone deubiquitinase complex.

PubMed ID: 24748658

DOI: 10.1093/nar/gku274

PubMed ID: 24634419

Title: MBD5 and MBD6 interact with the human PR-DUB complex through their methyl-CpG-binding domain.

PubMed ID: 24634419

DOI: 10.1002/pmic.201400013

PubMed ID: 30258054

Title: A bidentate Polycomb Repressive-Deubiquitinase complex is required for efficient activity on nucleosomes.

PubMed ID: 30258054

DOI: 10.1038/s41467-018-06186-1

PubMed ID: 30664650

Title: BAP1 complex promotes transcription by opposing PRC1-mediated H2A ubiquitylation.

PubMed ID: 30664650

DOI: 10.1038/s41467-018-08255-x

PubMed ID: 34170818

Title: BAP1/ASXL complex modulation regulates epithelial-mesenchymal transition during trophoblast differentiation and invasion.

PubMed ID: 34170818

DOI: 10.7554/elife.63254

PubMed ID: 36180891

Title: MBD5 and MBD6 stabilize the BAP1 complex and promote BAP1-dependent cancer.

PubMed ID: 36180891

DOI: 10.1186/s13059-022-02776-x

PubMed ID: 35446349

Title: Tumor suppressor BAP1 nuclear import is governed by transportin-1.

PubMed ID: 35446349

DOI: 10.1083/jcb.202201094

PubMed ID: 36991118

Title: Basis of the H2AK119specificity of the Polycomb repressive deubiquitinase.

PubMed ID: 36991118

DOI: 10.1038/s41586-023-05841-y

PubMed ID: 37556531

Title: Structural basis of histone H2A lysine 119 deubiquitination by Polycomb repressive deubiquitinase BAP1/ASXL1.

PubMed ID: 37556531

DOI: 10.1126/sciadv.adg9832

PubMed ID: 21941004

Title: Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers.

PubMed ID: 21941004

DOI: 10.1136/jmedgenet-2011-100156

PubMed ID: 21642991

Title: The nuclear deubiquitinase BAP1 is commonly inactivated by somatic mutations and 3p21.1 losses in malignant pleural mesothelioma.

PubMed ID: 21642991

DOI: 10.1038/ng.855

PubMed ID: 21874003

Title: Germline mutations in BAP1 predispose to melanocytic tumors.

PubMed ID: 21874003

DOI: 10.1038/ng.910

PubMed ID: 21874000

Title: Germline BAP1 mutations predispose to malignant mesothelioma.

PubMed ID: 21874000

DOI: 10.1038/ng.912

PubMed ID: 23684012

Title: Germline BAP1 mutations predispose to renal cell carcinomas.

PubMed ID: 23684012

DOI: 10.1016/j.ajhg.2013.04.012

PubMed ID: 25080371

Title: Germline BAP1 mutations predispose also to multiple basal cell carcinomas.

PubMed ID: 25080371

DOI: 10.1111/cge.12472

PubMed ID: 25451922

Title: BRCA1-associated protein 1 (BAP1) deubiquitinase antagonizes the ubiquitin-mediated activation of FoxK2 target genes.

PubMed ID: 25451922

DOI: 10.1074/jbc.m114.609834

PubMed ID: 25687217

Title: Analysis of BAP1 Germline gene mutation in young uveal melanoma patients.

PubMed ID: 25687217

DOI: 10.3109/13816810.2015.1010734

PubMed ID: 26680512

Title: Cancer associated missense mutations in BAP1 catalytic domain induce amyloidogenic aggregation: A new insight in enzymatic inactivation.

PubMed ID: 26680512

DOI: 10.1038/srep18462

PubMed ID: 32002398

Title: BAP1 germline mutation associated with bilateral primary uveal melanoma.

PubMed ID: 32002398

DOI: 10.1159/000499570

PubMed ID: 35051358

Title: Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.

PubMed ID: 35051358

DOI: 10.1016/j.ajhg.2021.12.011

Sequence Information:

  • Length: 729
  • Mass: 80362
  • Checksum: 031DA03AE1841D85
  • Sequence:
  • MNKGWLELES DPGLFTLLVE DFGVKGVQVE EIYDLQSKCQ GPVYGFIFLF KWIEERRSRR 
    KVSTLVDDTS VIDDDIVNNM FFAHQLIPNS CATHALLSVL LNCSSVDLGP TLSRMKDFTK 
    GFSPESKGYA IGNAPELAKA HNSHARPEPR HLPEKQNGLS AVRTMEAFHF VSYVPITGRL 
    FELDGLKVYP IDHGPWGEDE EWTDKARRVI MERIGLATAG EPYHDIRFNL MAVVPDRRIK 
    YEARLHVLKV NRQTVLEALQ QLIRVTQPEL IQTHKSQESQ LPEESKSASN KSPLVLEANR 
    APAASEGNHT DGAEEAAGSC AQAPSHSPPN KPKLVVKPPG SSLNGVHPNP TPIVQRLPAF 
    LDNHNYAKSP MQEEEDLAAG VGRSRVPVRP PQQYSDDEDD YEDDEEDDVQ NTNSALRYKG 
    KGTGKPGALS GSADGQLSVL QPNTINVLAE KLKESQKDLS IPLSIKTSSG AGSPAVAVPT 
    HSQPSPTPSN ESTDTASEIG SAFNSPLRSP IRSANPTRPS SPVTSHISKV LFGEDDSLLR 
    VDCIRYNRAV RDLGPVISTG LLHLAEDGVL SPLALTEGGK GSSPSIRPIQ GSQGSSSPVE 
    KEVVEATDSR EKTGMVRPGE PLSGEKYSPK ELLALLKCVE AEIANYEACL KEEVEKRKKF 
    KIDDQRRTHN YDEFICTFIS MLAQEGMLAN LVEQNISVRR RQGVSIGRLH KQRKPDRRKR 
    SRPYKAKRQ

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.