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PBRM1 Gene

protein-coding   GIFtS: 57
GCID: GC03M052579

Polybromo 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Polybromo 11 2     polybromo-1D2
BAF1802 3 5     Protein Polybromo-12
PB12 3 5     Polybromo-1D3
BRG1-Associated Factor 1802 3     hPB13

External Ids:    HGNC: 300641   Entrez Gene: 551932   Ensembl: ENSG000001639397   OMIM: 6060835   UniProtKB: Q86U863   

Export aliases for PBRM1 gene to outside databases

Previous GC identifer: GC03M052554


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PBRM1 Gene:
This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been
identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by
nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell
carcinoma. (provided by RefSeq, Feb 2012)

GeneCards Summary for PBRM1 Gene:
PBRM1 (polybromo 1) is a protein-coding gene. Diseases associated with PBRM1 include clear cell renal cell carcinoma, and renal cell carcinoma. GO annotations related to this gene include chromatin binding.

UniProtKB/Swiss-Prot: PB1_HUMAN, Q86U86
Function: Involved in transcriptional activation and repression of select genes by chromatin remodeling
(alteration of DNA-nucleosome topology). Acts as a negative regulator of cell proliferation

Gene Wiki entry for PBRM1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PBRM1 gene promoter:
         AP-1   ATF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for PBRM1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PBRM1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21   Ensembl cytogenetic band:  3p21.1   HGNC cytogenetic band: 3p21

PBRM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PBRM1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M052579:  view genomic region     (about GC identifiers)

Start:
52,579,368 bp from pter      End:
52,719,933 bp from pter
Size:
140,566 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PB1_HUMAN, Q86U86 (See protein sequence)
Recommended Name: Protein polybromo-1  
Size: 1689 amino acids; 192948 Da
Subunit: Component of the SWI/SNF-B (PBAF) chromatin-remodeling complex, which contains at least SMARCA4/BRG1,
SMARCB1/SNF5/INI1/BAF47, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps
SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PB1/BAF180, ARID2/BAF200, ARID1A/BAF250A or ARID1B/BAF250B and
actin. Interacts with PHF10/BAF45A (By similarity). Interacts with acetylated 'Lys-14' of histone H3 (H3K14ac),
and may also interact with other acetylated or methylated Lys residues on histone H3
Sequence caution: Sequence=AAI15010.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence;
Sequence=AAI15011.1; Type=Erroneous initiation; Sequence=AAI15012.1; Type=Erroneous termination; Positions=78;
Note=Translated as Arg; Sequence=BAB71210.1; Type=Erroneous initiation;
Selected PDB 3D structures from and Proteopedia for PBRM1 (see all 9):
2KTB (3D)        3G0J (3D)        3HMF (3D)        3IU5 (3D)        3IU6 (3D)        3K2J (3D)    
Secondary accessions: A1L381 A1L382 A4FUJ7 Q1RMD1 Q1RMD2 Q96MS2 Q9H2T3 Q9H2T4 Q9H2T5 Q9H301
Q9H314
Alternative splicing: 9 isoforms:  Q86U86-1   Q86U86-2   Q86U86-3   Q86U86-4   Q86U86-5   Q86U86-6   Q86U86-7   Q86U86-8   
Q86U86-9   

Explore the universe of human proteins at neXtProt for PBRM1: NX_Q86U86

Explore proteomics data for PBRM1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys754, Lys1398, Lys1626, Lys1642
  • Modification sites at PhosphoSitePlus

  • See PBRM1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060783.3  
    ENSEMBL proteins: 
     ENSP00000349213   ENSP00000378307   ENSP00000296302   ENSP00000338302   ENSP00000404579  
     ENSP00000386593   ENSP00000386529   ENSP00000386643   ENSP00000386601   ENSP00000387775  
     ENSP00000397662   ENSP00000409939   ENSP00000389390   ENSP00000412401   ENSP00000416851  
     ENSP00000404635   ENSP00000411895   ENSP00000397399  

    PBRM1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for PBRM1
    GenScript Custom Purified and Recombinant Proteins Services for PBRM1
    Novus Biologicals PBRM1 Protein
    Novus Biologicals PBRM1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PBRM1

    PBRM1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of PBRM1
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for PBRM1
    Novus Biologicals PBRM1 Antibodies
    Search for Antibodies for PBRM1 at Abcam
    Cloud-Clone Corp. Antibodies for PBRM1
    ThermoFisher Antibodies for PBRM1
    LSBio Antibodies in human, mouse, rat for PBRM1

    PBRM1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for PBRM1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PBRM1
    Cloud-Clone Corp. CLIAs for PBRM1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR001025 BAH_dom
     IPR009071 HMG_box_dom
     IPR018359 Bromodomain_CS
     IPR001487 Bromodomain

    Graphical View of Domain Structure for InterPro Entry Q86U86

    ProtoNet protein and cluster: Q86U86

    1 Blocks protein domain: IPB001025 Bromo adjacent region

    UniProtKB/Swiss-Prot: PB1_HUMAN, Q86U86
    Similarity: Contains 2 BAH domains
    Similarity: Contains 6 bromo domains
    Similarity: Contains 1 HMG box DNA-binding domain


    PBRM1 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PB1_HUMAN, Q86U86
    Function: Involved in transcriptional activation and repression of select genes by chromatin remodeling
    (alteration of DNA-nucleosome topology). Acts as a negative regulator of cell proliferation

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003682chromatin binding NAS11078522
    GO:0005515protein binding IPI11780067
         
    PBRM1 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pbrm1):
     cardiovascular system  embryogenesis  liver/biliary system  mortality/aging  respiratory system 

    PBRM1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PBRM1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PBRM1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PBRM1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PBRM1

    miRNA
    Products:
        
    miRTarBase miRNAs that target PBRM1:
    hsa-mir-21-5p (MIRT030867), hsa-mir-1226-3p (MIRT036515), hsa-mir-30a-5p (MIRT005153), hsa-mir-877-3p (MIRT036962), hsa-mir-93-5p (MIRT028017), hsa-mir-155-5p (MIRT020793), hsa-mir-1229-3p (MIRT036263)

    Block miRNA regulation of human, mouse, rat PBRM1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PBRM1 (see all 56):
    hsa-miR-21* hsa-miR-140-5p hsa-miR-582-3p hsa-miR-142-5p hsa-miR-3607-3p hsa-let-7a-2* hsa-miR-30d hsa-miR-29b-1*
    SwitchGear 3'UTR luciferase reporter plasmidPBRM1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PBRM1
    Predesigned siRNA for gene silencing in human, mouse, rat PBRM1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PBRM1

    Clone
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    OriGene clones in human, mouse for PBRM1 (see all 13)
    OriGene ORF clones in mouse, rat for PBRM1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): PBRM1 (NM_181042)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PBRM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PBRM1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for PBRM1
    Browse ESI BIO Cell Lines and PureStem Progenitors for PBRM1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PBRM1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PB1_HUMAN, Q86U86: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000228nuclear chromosome NAS11078522
    GO:0000776kinetochore IEA--

    PBRM1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Arrays including PBRM1: 
              Polycomb & Trithorax Complexes in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PBRM1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PBRM1 (Q86U861, 2, 3 ENSP000003492134) via UniProtKB, MINT, STRING, and/or I2D (see all 776)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053, ENSP000003529804I2D: score=1 STRING: ENSP00000352980
    HIST1H4HP628053, ENSP000002893524I2D: score=1 STRING: ENSP00000289352
    HIST1H4FP628053, ENSP000003669744I2D: score=1 STRING: ENSP00000366974
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001890placenta development IEA--
    GO:0006338chromatin remodeling TAS11078522
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0007067mitosis TAS11078522

    PBRM1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PBRM1 (PB1)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PBRM1 gene (4 alternative transcripts): 
    NM_018313.4  NM_018165.4  NM_181041.1  NM_181042.3  

    Unigene Cluster for PBRM1:

    Polybromo 1
    Hs.189920  [show with all ESTs]
    Unigene Representative Sequence: NM_018313
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000356770(uc003dex.2 uc003deq.2 uc003der.2 uc003des.2 uc003det.2 uc003deu.2 uc003dev.2 uc003dew.2 uc010hmk.1 uc003dey.2)
    ENST00000394830 ENST00000296302 ENST00000337303 ENST00000412587 ENST00000409057(uc003dez.1)
    ENST00000410007 ENST00000409114 ENST00000409767(uc003dfb.1) ENST00000423351
    ENST00000462207(uc003dfa.1) ENST00000446103 ENST00000480064(uc003dfc.3)
    ENST00000431678 ENST00000420148 ENST00000449505 ENST00000450271 ENST00000439181

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PBRM1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PBRM1 (see all 56):
    hsa-miR-21* hsa-miR-140-5p hsa-miR-582-3p hsa-miR-142-5p hsa-miR-3607-3p hsa-let-7a-2* hsa-miR-30d hsa-miR-29b-1*
    SwitchGear 3'UTR luciferase reporter plasmidPBRM1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PBRM1
    Predesigned siRNA for gene silencing in human, mouse, rat PBRM1
    Clone
    Products:
         
    OriGene clones in human, mouse for PBRM1 (see all 13)
    OriGene ORF clones in mouse, rat for PBRM1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): PBRM1 (NM_181042)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PBRM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PBRM1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for PBRM1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PBRM1
      QuantiTect SYBR Green Assays in human, mouse, rat PBRM1
      QuantiFast Probe-based Assays in human, mouse, rat PBRM1

    Additional mRNA sequence: 

    AF177387.1 AF197569.1 AF225870.1 AF225871.1 AF225872.1 AK000151.1 AK001507.1 AK001926.1 
    AK056541.1 AL050083.1 AY281068.1 BC015323.1 BC070273.1 BC089409.1 BC115009.1 BC115010.1 
    BC115011.1 BC116450.1 BC129934.1 BC129935.1 

    22 DOTS entries:

    DT.100726463  DT.447326  DT.100785845  DT.102835857  DT.211516  DT.92066151  DT.40132525  DT.40132524 
    DT.100785843  DT.120869636  DT.97820929  DT.99982226  DT.120869863  DT.120869783  DT.100785844  DT.451847 
    DT.102830161  DT.102830164  DT.120869800  DT.40203201  DT.95318167  DT.95318189 

    Selected AceView cDNA sequences (see all 310):

    BU741684 BG231839 AK056541 CA438315 AI392948 AK001926 BF725660 BE465515 
    BM724425 CR610723 BU752998 BU738578 BG059884 AA737453 CA438720 AF177387 
    AI126736 AI040820 CA312527 AI368753 AF225872 AK001507 BF592839 AF225870 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PBRM1 (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b · 16c ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a ·
    SP1:                                                                                                              -     -                                       
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                  -         

    ExUns: 23b ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32
    SP1:                          -     -                                 
    SP2:                                                                  
    SP3:                                                                  
    SP4:                                                                  
    SP5:                                                                  


    ECgene alternative splicing isoforms for PBRM1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PBRM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATGTATCTT
    PBRM1 Expression
    About this image

    PBRM1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PBRM1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.189920

    UniProtKB/Swiss-Prot: PB1_HUMAN, Q86U86
    Tissue specificity: Widely expressed

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PBRM1: 
              Polycomb & Trithorax Complexes in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for PBRM1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PBRM1
    QuantiTect SYBR Green Assays in human, mouse, rat PBRM1
    QuantiFast Probe-based Assays in human, mouse, rat PBRM1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PBRM1

    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PBRM1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pbrm11 , 5 polybromo 11, 5 92.5(n)1
    98.17(a)1
      14 (19.09 cM)5
    669231  NM_001081251.11  NP_001074720.11 
     310191385 
    chicken
    (Gallus gallus)
    Aves PBRM11 polybromo 1 81.75(n)
    91.25(a)
      396074  NM_205165.1  NP_990496.1 
    lizard
    (Anolis carolinensis)
    Reptilia PBRM16
    polybromo 1
    82(a)
    1 ↔ 1
    2(154796718-154852564)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.75282 Xenopus laevis transcribed sequence with weak similarity more 79.56(n)    BU907355.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.132332 Transcribed sequence with weak similarity to protein more 74.9(n)    BI884912.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta polybromo1 polybromo 49.47(n)
    42.05(a)
      42954  NM_143031.2  NP_651288.1 
    worm
    (Caenorhabditis elegans)
    Secernentea pbrm-11 pbrm-1 47.25(n)
    36.36(a)
      172504  NM_001025837.3  NP_001021008.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RSC1(YGR056W)4 Component of the RSC chromatin remodeling complex; more   --   7(601661-604447) 852947  NP_011570.1 


    ENSEMBL Gene Tree for PBRM1 (if available)
    TreeFam Gene Tree for PBRM1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PBRM1 gene
    2 SIMAP similar genes for PBRM1 using alignment to 9 protein entries:     PB1_HUMAN (see all proteins):
    PB1    SMARCA2

    PBRM1 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PBRM1 (see all 2792)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs749490661,2
    C,F--52511414(+) AGTGGG/ACTATA 1 -- ds50011Minor allele frequency- A:0.14WA 118
    rs791229771,2
    C,F--52511415(+) GTGGGC/ATATAC 1 -- ds50011Minor allele frequency- A:0.14WA 118
    rs761364371,2
    C,F--52511540(+) GTGGCG/ATGGGG 1 -- ds50011Minor allele frequency- A:0.03WA 118
    rs76351211,2
    C,F--52511594(+) CAGCCC/TGAGCC 1 -- ds50012Minor allele frequency- T:0.05WA NA 238
    rs1485924051,2
    C--52511619(+) TGGACA/CCTGAC 1 -- ds50010--------
    rs68026711,2
    C,F,A,H--52511676(+) ATACAT/ACCTTG 1 -- ds500119Minor allele frequency- A:0.26EA NA NS WA CSA 816
    rs1143001001,2
    C,F--52511681(+) ACCTTG/CTCAGC 1 -- ds50011Minor allele frequency- C:0.03NA 120
    rs124939721,2
    C,H--52511700(+) AGGGCT/CTGCAG 1 -- ds50012Minor allele frequency- C:0.00NA 4
    rs1427907281,2
    C--52511862(+) ACCACA/GTAAAC 1 -- ut310--------
    rs1510265361,2
    C--52511896(+) TAGAAC/TAAACC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for PBRM1 (52579368 - 52719933 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PBRM1 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2442255CNV Deletion19546169
    esv3156CNV Deletion18987735
    esv2725278CNV Deletion23290073
    esv2671058CNV Deletion23128226
    esv1488186CNV Deletion17803354
    dgv21e194CNV Deletion18987734
    nsv508927CNV Insertion20534489
    dgv5137n71CNV Loss21882294
    nsv822092CNV Loss20364138
    nsv822091CNV Loss20364138

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PBRM1
    DNA2.0 Custom Variant and Variant Library Synthesis for PBRM1

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

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    OMIM gene information: 606083    OMIM disorders: --

    UniProtKB/Swiss-Prot: PB1_HUMAN, Q86U86
  • Renal cell carcinoma (RCC) [MIM:144700]: Renal cell carcinoma is a heterogeneous group of sporadic or
    hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear
    cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma,
    collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. Clear
    cell renal cell carcinoma is the most common subtype. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for PBRM1 (see all 21):    
    About MalaCards
    clear cell renal cell carcinoma    renal cell carcinoma    collecting duct carcinoma    chromophobe renal cell carcinoma
    papillary renal cell carcinoma    kidney cancer    mood disorder    papillary carcinoma
    bipolar disorder    pulmonary function    choriocarcinoma    osteoarthritis
    influenza    schizophrenia    lung cancer    multiple myeloma
    myeloma    hiv-1    breast cancer    malaria

    1 disease from the University of Copenhagen DISEASES database for PBRM1:
    Influenza

    PBRM1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): PBRM1
    Human Genome Epidemiology (HuGE) Navigator: PBRM1 (3 documents)

    Export disorders for PBRM1 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)
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    PubMed articles for PBRM1 gene, integrated from 10 sources (see all 76):
    (articles sorted by number of sources associating them with PBRM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human SWI/SNF-B chromatin-remodeling complex is related to yeast rsc and localizes at kinetochores of mitotic chromosomes. (PubMed id 11078522)1, 2, 3 Xue Y.... Wang W. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    2. The 3p21 candidate tumor suppressor gene BAF180 is normally expressed in human lung cancer. (PubMed id 15735765)1, 2, 9 Sekine I.... Minna J.D. (Oncogene 2005)
    3. Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. (PubMed id 22479202)1, 4 Dastani Z....Kathiresan S. (PLoS Genet. 2012)
    4. Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. (PubMed id 21248752)1, 2 Varela I....Futreal P.A. (Nature 2011)
    5. Meta-analysis of genome-wide association data identifies a risk locus for major mood disorders on 3p21.1. (PubMed id 20081856)1, 4 McMahon F.J....Rietschel M. (Nat. Genet. 2010)
    6. Structural insights into selective histone H3 recognition by the human polybromo bromodomain 2. (PubMed id 20368734)1, 2 Charlop-Powers Z.... Zhou M.M. (Cell Res. 2010)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    9. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    10. PBAF chromatin-remodeling complex requires a novel specificity subunit, BAF200, to regulate expression of selective interferon- responsive genes. (PubMed id 15985610)1, 2 Yan Z.... Wang W. (Genes Dev. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 55193 HGNC: 30064 AceView: PB1 Ensembl:ENSG00000163939 euGenes: HUgn55193
    ECgene: PBRM1 H-InvDB: PBRM1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for PBRM1 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for PBRM1 gene:
    Search GeneIP for patents involving PBRM1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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