BAP1 Gene
protein-coding GIFtS: 63
GCID: GC03M052410
|
|
BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
| |
Aliases
for BAP1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA
Quality score for the ORGUL clustered with this gene is 3
| Aliases |
|---|
| BRCA1 Associated Protein-1 (Ubiquitin Carboxy-Terminal Hydrolase)1 2 | | TPDS2 | | UCHL21 2 | | Cerebral Protein-132 | | KIAA02721 3 | | Ubiquitin Carboxyl-Terminal Hydrolase BAP12 | | Cerebral Protein 62 3 | | EC 3.4.19.123 | | Hucep-61 | | BRCA1-Associated Protein 13 | | HUCEP-132 | | |
| External Ids: | HGNC: 9501 | Entrez Gene: 83142 | Ensembl: ENSG000001639307 | OMIM: 6030895 | UniProtKB: Q925603 |
|---|
| | ORGUL members: | |
|---|
| NONCODE:n339367 | |
Export aliases for BAP1 gene to outside databasesPrevious GC identifers: GC03M051527 GC03M051687 GC03M052290 GC03M052393
Summaries
for BAP1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for BAP1:
The protein encoded by this gene localizes to the nucleus and it interacts with the RING finger domain of the breastcancer 1, early onset protein (BRCA1). This gene is thought to be a tumor suppressor gene that functions in the BRCA1growth control pathway. There are multiple polyadenylation sites found in this gene. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: BAP1_HUMAN, Q92560Function: Deubiquitinating enzyme that plays a key role in chromatin by mediating deubiquitination of histone H2A andHCFC1. Catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2Amonoubiquitinated at 'Lys-119' (H2AK119ub1). Does not deubiquitinate monoubiquitinated histone H2B. Acts as aregulator of cell growth by mediating deubiquitination of HCFC1 N-terminal and C-terminal chains, with somespecificity toward 'Lys-48'-linked polyubiquitin chains compared to 'Lys-63'-linked polyubiquitin chains.Deubiquitination of HCFC1 does not lead to increase stability of HCFC1. Interferes with the BRCA1 and BARD1heterodimer activity by inhibiting their ability to mediate ubiquitination and autoubiquitination. It however does notmediate deubiquitination of BRCA1 and BARD1. Acts as a tumor suppressor
Gene Wiki entry for BAP1
|
Genomic Views
for BAP1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_022517.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the BAP1 gene promoter:
Sp1 SRF (504 AA) Nkx2-5
Other transcription factors
Search SABiosciences Chromatin IP Primers for BAP1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BAP1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3p21.31-p21.2 Ensembl cytogenetic band: 3p21.1 HGNC cytogenetic band: 3p21.31-p21.2BAP1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03M052410: view genomic region
(about GC identifiers)
Start:
|
52,435,024 bp from pter |
End:
|
52,444,366 bp from pter |
Size:
|
9,343 bases |
Orientation:
|
minus strand |
|
Proteins
for BAP1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: BAP1_HUMAN, Q92560 (See
protein sequence)Recommended Name: Ubiquitin carboxyl-terminal hydrolase BAP1 Size: 729 amino acids; 80362 Da
Subunit: Component of the PR-DUB complex, at least composed of BAP1 and ASXL1. Interacts with BRCA1 (via the RINGfinger). Interacts (via HBM-like motif) with HCFC1
Subcellular location: Cytoplasm. Nucleus. Note=Mainly nuclear. Binds to chromatin
Sequence caution: Sequence=BAA13401.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A8K993 Q6LEM0 Q7Z5E8Explore the universe of human proteins at neXtProt for BAP1: NX_Q92560
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q92560
BAP1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_004647.1
ENSEMBL proteins: ENSP00000417132 ENSP00000418320 ENSP00000296288 ENSP00000420647 ENSP00000419709 ENSP00000417776
Human Recombinant Protein Products:
Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table
BAP1 for ontologies About GeneDecksing
BAP1 Antibody Products:
Assay Products for BAP1: |
Protein
Domains /
Families
for BAP1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
BAP1 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q92560ProtoNet protein and cluster: Q92560 1 Blocks protein family: IPB001578 Ubiquitin carboxyl-terminal hydrolase
UniProtKB/Swiss-Prot: BAP1_HUMAN, Q92560Similarity: Belongs to the peptidase C12 family. BAP1 subfamily |
Function
for BAP1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: BAP1_HUMAN, Q92560Function: Deubiquitinating enzyme that plays a key role in chromatin by mediating deubiquitination of histone H2A andHCFC1. Catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2Amonoubiquitinated at 'Lys-119' (H2AK119ub1). Does not deubiquitinate monoubiquitinated histone H2B. Acts as aregulator of cell growth by mediating deubiquitination of HCFC1 N-terminal and C-terminal chains, with somespecificity toward 'Lys-48'-linked polyubiquitin chains compared to 'Lys-63'-linked polyubiquitin chains.Deubiquitination of HCFC1 does not lead to increase stability of HCFC1. Interferes with the BRCA1 and BARD1heterodimer activity by inhibiting their ability to mediate ubiquitination and autoubiquitination. It however does notmediate deubiquitination of BRCA1 and BARD1. Acts as a tumor suppressorCatalytic activity: Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by theC-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal) Genatlas biochemistry entry for BAP1:BRCA1 associated protein 1,widely expressed,binding to the BRCA1 RING finger domain and enhancing BRCA1-mediated cellgrowth suppression
Enzyme Number (IUBMB): EC 3.4.19.121
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BAP1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BAP1 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript Custom all cDNA clones Services for BAP1 | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BAP1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BAP1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BAP1 |
Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table
BAP1 for ontologies About GeneDecksing
3 GenomeRNAi human phenotypes for BAP1:
Animal Models:
Mouse knock-out Bap1tm1.2Geno for BAP1
10 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Bap1):
BAP1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for BAP1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Protein Stability | | | 2 | Cytoskeletal Signaling | | | 3 | Selected targets of ESR1 | | | 4 | APC-Cdc20 mediated degradation of Nek2A | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 EMD Millipore Pathways for BAP1
2 
Cell Signaling Technology (CST) Pathways for BAP1
BAP1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BAP1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/87 Interacting proteins for BAP1 (Q925601, 3 ENSP000004171324) via UniProtKB, MINT, STRING, and/or I2D (see all 87)About this table
Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table
BAP1 for ontologies About GeneDecksing
|
Drugs & Compounds
for BAP1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for BAP1
Search CenterWatch for drugs/clinical trials and news about BAP1
|
Transcripts
for BAP1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for BAP1 gene: NM_004656.2 Unigene Cluster for BAP1: BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) Hs.106674 [show with all ESTs]Unigene Representative Sequence: NM_00465610 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000460680(uc003ddw.3 uc010hmg.3 uc010hmh.3 uc003ddx.3)
ENST00000469613 ENST00000296288 ENST00000478368 ENST00000466093 ENST00000490804
ENST00000471532 ENST00000483984 ENST00000490917 ENST00000470173
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BAP1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BAP1 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript Custom all cDNA clones Services for BAP1 | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BAP1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BAP1 |
Additional cDNA sequence: AB002534.1 AF045581.1 AK092725.1 AK094499.1 AK225494.1 AK292608.1 AK295395.1 AK307274.1 AY130008.1 BC001596.1 BX647318.1 D87462.2 D88812.1 18 DOTS entries: DT.217303 DT.91763316 DT.102820838 DT.100795050 DT.100795049 DT.120914317 DT.120914340 DT.120914236 DT.100032503 DT.120914364 DT.86854177 DT.97791879 DT.100029516 DT.100795048 DT.102820839 DT.120914363 DT.120914282 DT.80100384 24/369 AceView cDNA sequences (see all 369): BE464104 AI962244 AW467845 BM467172 BF196085 BM469001 BM451889 BU182983 BM770768 BE713073 BQ058097 BC001596 BM665639 BU729539 BM744356 BE747214 Z45707 CA388921 AI420067 CF785879 BQ949770 BE535499 BQ668536 AL039264
GeneLoc Exon Structure
5/13 Alternative Splicing Database (ASD) splice patterns (SP) for BAP1 (see all 13) About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | - | | - | | - | | | | | | - | | | | - | | | | | | | | | | | | | | | | | | - | | | | |
| SP2: | | | | | | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | |
| SP4: | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 18b | · | 18c | ^ | 19 | ^ | 20a | · | 20b | · | 20c | · | 20d | · | 20e |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for BAP1
|
Expression
for BAP1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| BAP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCTCTGCCA
About this image
See BAP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BAP1
SOURCE GeneReport for Unigene cluster: Hs.106674
UniProtKB/Swiss-Prot: BAP1_HUMAN, Q92560Tissue specificity: Highly expressed in testis, placenta and ovary. Expressed in breast
SABiosciences Expression via Pathway-Focused PCR Array including BAP1: | Polycomb & Trithorax Complexes in human mouse rat |
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BAP1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat BAP1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BAP1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BAP1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BAP1 |
Orthologs
for BAP1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for BAP1 gene from 7/27 species (see all 27) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
BAP11 |
BRCA1 associated protein-1 (ubiquitin carboxy-terminal more |
80.83(n)
85.55(a) |
|
415944 NM_001030590.1 NP_001025761.1 |
lizard
(Anolis carolinensis) |
Reptilia |
BAP16 |
-- |
79(a) |
1 ↔ 1 |
GL343474.1(136799-155413) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.114452 |
Xenopus laevis transcribed sequence with strong similarity more |
78.64(n) |
|
CA793749.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
bap11 |
BRCA1 associated protein-1 (ubiquitin carboxy-terminal more |
67.61(n)
72.68(a) |
|
558885 NM_001163837.1 NP_001157309.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG84453
calypso1 |
NOT ubiquitin C-terminal hydrolase3
CG8445-PA1 |
58(a)3
59.46(n)1
56.76(a)1 |
|
52F73
367941 NM_137252.21 NP_611096.11 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
UCH26UCH16 |
ubiquitin carboxyl-terminal hydrolase L5 |
39(a)37(a) |
many ↔ manymany ↔ many |
1(24415015-24417709) 5(5342391-5344285) |
rice
(Oryza sativa) |
Liliopsida |
---- |
ubiquitin carboxyl-terminal hydrolase, family 1, p...ubiquitin carboxyl-terminal hydrolase, family 1, p... |
38(a)36(a) |
many ↔ manymany ↔ many |
2(35287542-35290688) 2(4454837-4457745) |
ENSEMBL Gene Tree for BAP1 (if available)
TreeFam Gene Tree for BAP1 (if available) |
Paralogs
for BAP1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for BAP1 gene
- UCHL52
1 SIMAP similar gene for BAP1 using alignment to 6 protein entries: BAP1_HUMAN (see all proteins):UCHL5
BAP1 for paralogs About GeneDecksing
|
Genomic Variants
for BAP1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for BAP1 (52435024 - 52444366 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for BAP1
1 CNV: 4338
Human Gene Mutation Database (HGMD): BAP1
| 1 SABiosciences Cancer Mutation PCR Assay for BAP1: | Cosmic Id | AA Change |
|---|
| 51976 | p.H169Q |
|
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BAP1 |
|
Disorders
/ Diseases
for BAP1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
BAP1 for disorders About GeneDecksing
OMIM gene information: 603089
OMIM disorders: --
UniProtKB/Swiss-Prot: BAP1_HUMAN, Q92560
Defects in BAP1 may be a cause of mesothelioma malignant (MESOM) [MIM:156240]. An aggressive neoplasm of theserosal lining of the chest. It appears as broad sheets of cells, with some regions containing spindle-shaped,sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposureto asbestos Defects in BAP1 are a cause of tumor predisposition syndrome (TPDS) [MIM:614327]. TPDS is a conditioncharacterized by predisposition to develop a variety of tumors, including benign melanocytic tumors as well as severalmalignant tumors, including uveal melanoma, cutaneous melanoma, malignant mesothelioma on exposure to asbestos, lungadenocarcinoma and meningioma
17  diseases for BAP1: About MalaCardsbreast cancer cerebritis malignant pleural mesothelioma cylindromatosis
familial cylindromatosis childhood medulloblastoma sporadic breast cancer malignant mesothelioma
breast-ovarian cancer parkinson's disease medulloblastoma pandas
ovarian cancer noma schizophrenia malaria
neuronitis
3 Novoseek disease relationships for BAP1 gene About this table
Human Genome Epidemiology (HuGE) Navigator: BAP1 (8 documents)
Export disorders for BAP1 gene to outside databases
|
Publications
for BAP1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for BAP1 gene, integrated from 9 sources (see all 63):
(articles sorted by number of sources associating them with BAP1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression. (PubMed id 9528852)1, 2, 3, 9 Jensen D.E.... Rauscher F.J. III (1998)
- BRCA1-associated protein 1 interferes with BRCA1/BARD1 RING heterodimer activity. (PubMed id 19117993)1, 2, 9 Nishikawa H....Ohta T. (2009)
- The deubiquitinating enzyme BAP1 regulates cell growt h via interaction with HCF-1. (PubMed id 19815555)1, 2, 9 Machida Y.J....Dutta A. (2009)
- Novel tumor antigens identified by autologous antibody screening of childhood medulloblastoma cDNA libraries. (PubMed id 12800201)1, 2, 9 Behrends U.... Mautner J. (2003)
- The nuclear deubiquitinase BAP1 is commonly inactivated by somatic mutations and 3p21.1 losses in malignant pleural mesothelioma. (PubMed id 21642991)1, 2 Bott M.... Ladanyi M. (2011)
- Germline mutations in BAP1 predispose to melanocytic tumors. (PubMed id 21874003)1, 2 Wiesner T....Speicher M.R. (2011)
- Histone H2A deubiquitinase activity of the Polycomb repressive complex PR-DUB. (PubMed id 20436459)1, 2 Scheuermann J.C.... Muller J. (2010)
- Association of C-terminal ubiquitin hydrolase BRCA1-a ssociated protein 1 with cell cycle regulator host cell factor 1. (PubMed id 19188440)1, 2 Misaghi S....Wilson A.C. (2009)
- BRCA1-associated protein-1 is a tumor suppressor that requires deubiquitinating activity and nuclear localization. (PubMed id 18757409)1, 2 Ventii K.H....Wilkinson K.D. (2008)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
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External Searches for BAP1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing BAP1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing BAP1 gene
(According to HUGE)
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Specialized Databases showing BAP1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Patent Information for BAP1 gene:
Search GeneIP for patents involving BAP1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for BAP1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for BAP1 | | OriGene shRNA RFP for BAP1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BAP1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BAP1 | | | OriGene Protein Over-expression Lysate for BAP1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for BAP1 | | OriGene 3'-UTR Clone for BAP1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BAP1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BAP1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for BAP1 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for BAP1 | | OriGene Custom Protein Services for BAP1 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat BAP1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BAP1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BAP1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BAP1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BAP1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BAP1 |
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| | Antibodies & Assays for BAP1 |
| | | | Search Tocris compounds for BAP1 |
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 | | | BAP1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BAP1 |
|  |  |  | | | | ThermoFisher Antibody for BAP1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BAP1 |
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