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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BAP1 Gene

protein-coding   GIFtS: 65
GCID: GC03M052410

BRCA1 Associated Protein-1 (Ubiquitin Carboxy-Terminal Hydrolase)

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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     Ubiquitin Carboxyl-Terminal Hydrolase BAP12
Cerebral Protein 62 3     EC 3.4.19.123
HUCEP-132     KIAA02723
UCHL22     BRCA1-Associated Protein 13
Cerebral Protein-132     

External Ids:    HGNC: 9501   Entrez Gene: 83142   Ensembl: ENSG000001639307   OMIM: 6030895   UniProtKB: Q925603   
ORGUL members:         
NONCODE14:n339367      

Export aliases for BAP1 gene to outside databases

Previous GC identifers: GC03M051527 GC03M051687 GC03M052290 GC03M052393


(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 Gene:
This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in
the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility
protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme
may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and
chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS),
which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma.
(provided by RefSeq, May 2013)

GeneCards Summary for BAP1 Gene: 
BAP1 (BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with BAP1 include childhood medulloblastoma, and bap1-related tumor predisposition syndrome, and among its related super-pathways are Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase. GO annotations related to this gene include peptidase activity and chromatin binding. An important paralog of this gene is UCHL5.

UniProtKB/Swiss-Prot: BAP1_HUMAN, Q92560
Function: Deubiquitinating enzyme that plays a key role in chromatin by mediating deubiquitination of histone H2A
and HCFC1. Catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of
histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1). Does not deubiquitinate monoubiquitinated histone H2B.
Acts as a regulator of cell growth by mediating deubiquitination of HCFC1 N-terminal and C-terminal chains, with
some specificity 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 BARD1
heterodimer activity by inhibiting their ability to mediate ubiquitination and autoubiquitination. It however
does not mediate deubiquitination of BRCA1 and BARD1. Acts as a tumor suppressor

Gene Wiki entry 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_022517.18  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BAP1 gene promoter:
         Sp1   SRF (504 AA)   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBAP1 promoter sequence
   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-p21.2

BAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BAP1 gene location

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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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 RING
finger). 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 Q7Z5E8

Explore the universe of human proteins at neXtProt for BAP1: NX_Q92560

Explore proteomics data for BAP1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92560

  • BAP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BAP1 Protein Expression
    REFSEQ proteins: NP_004647.1  
    ENSEMBL proteins: 
     ENSP00000417132   ENSP00000418320   ENSP00000296288   ENSP00000420647   ENSP00000419709  
     ENSP00000417776  

    Human Recombinant Protein Products for BAP1: 
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    Cloud-Clone Corp. Proteins for BAP1 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA--
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA18757409
    GO:0035517PR-DUB complex IDA--

    BAP1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR001578 Peptidase_C12

    Graphical View of Domain Structure for InterPro Entry Q92560

    ProtoNet protein and cluster: Q92560

    1 Blocks protein domain: IPB001578 Ubiquitin carboxyl-terminal hydrolase

    UniProtKB/Swiss-Prot: BAP1_HUMAN, Q92560
    Similarity: Belongs to the peptidase C12 family. BAP1 subfamily


    BAP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BAP1_HUMAN, Q92560
    Function: Deubiquitinating enzyme that plays a key role in chromatin by mediating deubiquitination of histone H2A
    and HCFC1. Catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of
    histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1). Does not deubiquitinate monoubiquitinated histone H2B.
    Acts as a regulator of cell growth by mediating deubiquitination of HCFC1 N-terminal and C-terminal chains, with
    some specificity 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 BARD1
    heterodimer activity by inhibiting their ability to mediate ubiquitination and autoubiquitination. It however
    does not mediate deubiquitination of BRCA1 and BARD1. Acts as a tumor suppressor
    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)

         Genatlas biochemistry entry for BAP1:
    BRCA1 associated protein 1,widely expressed,binding to the BRCA1 RING finger domain and enhancing BRCA1-mediated
    cell growth suppression

         Enzyme Number (IUBMB): EC 3.4.19.121

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IDA19815555
    GO:0004221ubiquitin thiolesterase activity IMP18757409
    GO:0004843ubiquitin-specific protease activity IDA18757409
    GO:0005515protein binding IPI19117993
    GO:0008233peptidase activity NAS9528852
         
    BAP1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for BAP1:
     Cell division defect  Increased S DNA content  Increased cell death HMECs cel 

         10 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Bap1):
     cardiovascular system  embryogenesis  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  muscle  no phenotypic analysis  tumorigenesis 

    BAP1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Bap1tm1.2Geno for BAP1

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    8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate BAP1 (see all 21):
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    SwitchGear 3'UTR luciferase reporter plasmidBAP1 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for BAP1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase
    Common schema of ubiquitination0.36
    2Selected targets of ESR1
    Selected targets of ESR1
    3Protein Stability
    Protein Stability
    4Cytoskeletal Signaling
    Cytoskeletal Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for BAP1
        Selected targets of ESR1
    Common schema of ubiquitination


    2 Cell Signaling Technology (CST) Pathways for BAP1
        Cytoskeletal Signaling
    Protein Stability



    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)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BRCA1P383981, 3, ENSP000003502834EBI-1791447,EBI-349905 I2D: score=3 STRING: ENSP00000350283
    ASXL1Q8IXJ91, 3, ENSP000003648394EBI-1791447,EBI-1646500 I2D: score=2 STRING: ENSP00000364839
    AHCYL2Q96HN23, ENSP000003159314I2D: score=2 STRING: ENSP00000315931
    ANAPC7Q9UJX33, ENSP000003943944I2D: score=2 STRING: ENSP00000394394
    FOXK2Q011673, ENSP000003356774I2D: score=2 STRING: ENSP00000335677
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001558regulation of cell growth IMP19815555
    GO:0006464cellular protein modification process NAS9528852
    GO:0006511ubiquitin-dependent protein catabolic process IEA--
    GO:0008285negative regulation of cell proliferation TAS9528852
    GO:0016579protein deubiquitination IDA18757409

    BAP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BAP1

    Search CenterWatch for drugs/clinical trials and news about BAP1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BAP1 gene: 
    NM_004656.3  

    Unigene Cluster for BAP1:

    BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
    Hs.106674  [show with all ESTs]
    Unigene Representative Sequence: NM_004656
    10 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

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    8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate BAP1 (see all 21):
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    SwitchGear 3'UTR luciferase reporter plasmidBAP1 3' UTR sequence
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    Additional mRNA 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):

    BQ434699 AI401328 BQ417342 AB002534 AI638255 Z41371 AI675206 CB131573 
    BM833483 BM820350 AI699103 AA515069 BM744356 BQ217330 BE464104 NM_004656 
    AA306103 AI962244 BQ421640 BQ058097 AI968668 BM451889 BM556538 BQ668536 

    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

    (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 <intensity>2/3
    CGAP TAG: GCCTCTGCCA
    BAP1 Expression
    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, Q92560
    Tissue 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

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    (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 animals.

    Orthologs for BAP1 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bap11 , 5 Brca1 associated protein 11, 5 88.64(n)1
    93.54(a)1
      14 (19.09 cM)5
    1044161  NM_027088.21  NP_081364.11 
     312514895 
    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
    Uncharacterized protein
    79(a)
    1 ↔ 1
    GL343474.1(136799-155466)
    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 


    ENSEMBL Gene Tree for BAP1 (if available)
    TreeFam Gene Tree for BAP1 (if available)

    (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



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/347 SNPs in BAP1 are shown (see all 347)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0634984
    A lung cancer sample4--see VAR_0634982 A D mis40--------
    VAR_0634994
    A lung cancer sample4--see VAR_0634992 G V mis40--------
    VAR_0659804
    ----see VAR_0659802 E V mis40--------
    VAR_0659784
    ----see VAR_0659782 C W mis40--------
    VAR_0659774
    ----see VAR_0659772 F V mis40--------
    VAR_0659764
    ----see VAR_0659762 S C mis40--------
    rs710841821,2
    C--52439509(-) TTTTT-/T/TTT 
            
    CTTCC
    2 -- int1 cds11NA 2
    rs287588601,2
    C,F,H--52497181(+) CCCCTA/C/TTGCAG 1 -- ds50017NS NA WA 1010
    rs1449563091,2
    --52497230(+) CTCAGC/TAGACG 1 -- ds50010--------
    rs1489738071,2
    --52497298(+) CCAAAA/CGCAAC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for BAP1 (52435024 - 52444366 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for BAP1:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv5137n71CNV Loss21882294
    nsv834697CNV Loss17160897
    nsv834696CNV Loss17160897
    nsv876789CNV Loss21882294


    Human Gene Mutation Database (HGMD): BAP1
    1 SABiosciences Cancer Mutation PCR Assay for BAP1:
    Cosmic IdAA Change
    51976p.H169Q
    SeqTarget long-range PCR primers for resequencing BAP1
    DNA2.0 Custom Variant and Variant Library Synthesis for BAP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603089    OMIM disorders: --

    UniProtKB/Swiss-Prot: BAP1_HUMAN, Q92560
  • Mesothelioma, malignant (MESOM) [MIM:156240]: An aggressive neoplasm of the serosal 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 exposure to asbestos. Note=The
    gene represented in this entry is involved in disease pathogenesis
  • Tumor predisposition syndrome (TPDS) [MIM:614327]: A condition characterized by predisposition to develop
    a variety of tumors, including benign melanocytic tumors as well as several malignant tumors, including uveal
    melanoma, cutaneous melanoma, malignant mesothelioma on exposure to asbestos, lung adenocarcinoma and meningioma.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/25 diseases for BAP1 (see all 25):    About MalaCards
    childhood medulloblastoma    bap1-related tumor predisposition syndrome    familial cylindromatosis    noma
    malignant pleural mesothelioma    cerebritis    pandas    sporadic breast cancer
    ocular melanoma    medulloblastoma    malignant mesothelioma    breast cancer
    parkinson's disease    ovarian cancer    lung adenocarcinoma    meningioma
    schizophrenia    renal cell carcinoma    sarcoma    colorectal cancer


    BAP1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    3 Novoseek inferred disease relationships for BAP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    parkinson disease 33.7 2 12775255 (1), 10203348 (1)
    breast cancer 17 4 9528852 (2), 19197335 (1)
    tumors 0 3 19815555 (1), 12800201 (1), 9528852 (1)

    Genetic Association Database (GAD): BAP1
    Human Genome Epidemiology (HuGE) Navigator: BAP1 (8 documents)

    Export disorders for BAP1 gene to outside databases

    (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 78):
    (articles sorted by number of sources associating them with BAP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. BRCA1-associated protein 1 interferes with BRCA1/BARD1 RING heterodimer activity. (PubMed id 19117993)1, 2, 9 Nishikawa H....Ohta T. (2009)
    3. 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)
    4. Genetic sequence variations of BRCA1-interacting genes AURKA, BAP1, BARD1 and DHX9 in French Canadian Families with high risk of breast cancer. (PubMed id 19197335)1, 4, 9 GuAcnard F....Durocher F. (2009)
    5. Novel tumor antigens identified by autologous antibody screening of childhood medulloblastoma cDNA libraries. (PubMed id 12800201)1, 2, 9 Behrends U.... Mautner J. (2003)
    6. Germline mutations in BAP1 predispose to melanocytic tumors. (PubMed id 21874003)1, 2 Wiesner T....Speicher M.R. (2011)
    7. 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)
    8. Germline BAP1 mutations predispose to malignant mesot helioma. (PubMed id 21874000)1, 2 Testa J.R....Carbone M. (2011)
    9. Histone H2A deubiquitinase activity of the Polycomb repressive complex PR-DUB. (PubMed id 20436459)1, 2 Scheuermann J.C.... Muller J. (2010)
    10. Single nucleotide polymorphisms in miRNA binding site s and miRNA genes as breast/ovarian cancer risk modifiers in Jewish high-risk w omen. (PubMed id 19950226)1, 4 Kontorovich T....Friedman E. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8314 HGNC: 950 AceView: BAP1 Ensembl:ENSG00000163930 euGenes: HUgn8314
    ECgene: BAP1 H-InvDB: BAP1

    (According to HUGE)
    About This Section
    HUGE: KIAA0272

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BAP1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BAP1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    About This Section

     
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