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Aliases for PBRM1 Gene

Aliases for PBRM1 Gene

  • Polybromo 1 2 3 5
  • BRG1-Associated Factor 180 3 4
  • Polybromo-1D 3 4
  • BAF180 3 4
  • PB1 3 4
  • Protein Polybromo-1 3
  • HPB1 4

External Ids for PBRM1 Gene

Previous GeneCards Identifiers for PBRM1 Gene

  • GC03M052554

Summaries for PBRM1 Gene

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]

CIViC summary for PBRM1 Gene

GeneCards Summary for PBRM1 Gene

PBRM1 (Polybromo 1) is a Protein Coding gene. Diseases associated with PBRM1 include Clear Cell Renal Cell Carcinoma and Clear Cell Papillary Renal Cell Carcinoma. Among its related pathways are Apoptosis Modulation and Signaling and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Gene Ontology (GO) annotations related to this gene include chromatin binding.

UniProtKB/Swiss-Prot for PBRM1 Gene

  • Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). Acts as a negative regulator of cell proliferation.

Gene Wiki entry for PBRM1 Gene

Additional gene information for PBRM1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PBRM1 Gene

Genomics for PBRM1 Gene

GeneHancer (GH) Regulatory Elements for PBRM1 Gene

Promoters and enhancers for PBRM1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J052683 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 705 -0.4 -404 5 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 PBRM1 GNL3 RRP9 RFT1 ABHD14B ITIH1 ENSG00000280904
GH03J052679 Promoter 0.6 EPDnew 650.4 +6.2 6237 0.1 FOSL1 GNL3 PBRM1 RNU6ATAC16P
GH03J052769 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 60.1 -85.0 -84970 2.1 HDGF FOXA2 SMAD1 ARID4B SIN3A DMAP1 IRF4 YY1 SLC30A9 POLR2B NEK4 PBRM1 RRP9 RFT1 ITIH3 ITIH4-AS1 ITIH4 ENSG00000243696 SNORD69 GNL3
GH03J052243 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 34.6 +440.0 440031 4.9 HDGF PKNOX1 SIN3A IRF4 ZNF48 YY1 GLIS2 ZNF143 ATF7 FOS PPM1M PBRM1 LOC101929054 GLYCTK IQCF2 IQCF5 PHF7 IQCF6 IQCF1 WDR82
GH03J053345 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 33 -661.4 -661408 2.7 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF416 DCP1A NISCH PBRM1 RFT1 LOC101059924 ENSG00000271976 PHF7 CABYRP1 ENSG00000212608 PRKCD
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PBRM1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PBRM1 gene promoter:
  • AP-1
  • ATF-2

Genomic Locations for PBRM1 Gene

Genomic Locations for PBRM1 Gene
140,566 bases
Minus strand
140,566 bases
Minus strand

Genomic View for PBRM1 Gene

Genes around PBRM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PBRM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PBRM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PBRM1 Gene

Proteins for PBRM1 Gene

  • Protein details for PBRM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein polybromo-1
    Protein Accession:
    Secondary Accessions:
    • A1L381
    • A1L382
    • A4FUJ7
    • Q1RMD1
    • Q1RMD2
    • Q96MS2
    • Q9H2T3
    • Q9H2T4
    • Q9H2T5
    • Q9H301
    • Q9H314

    Protein attributes for PBRM1 Gene

    1689 amino acids
    Molecular mass:
    192948 Da
    Quaternary structure:
    • Component of the SWI/SNF-B (PBAF) chromatin remodeling complex, at least composed of SMARCA4/BRG1, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PBRM1/BAF180, ARID2/BAF200 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=AAI15010.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence.; Evidence={ECO:0000305}; Sequence=AAI15011.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAI15012.1; Type=Erroneous termination; Positions=78; Note=Translated as Arg.; Evidence={ECO:0000305}; Sequence=BAB71210.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PBRM1 Gene

    Alternative splice isoforms for PBRM1 Gene

neXtProt entry for PBRM1 Gene

Post-translational modifications for PBRM1 Gene

  • Ubiquitination at isoforms=2, 3, 4, 5, 7, 8, 91642, isoforms=2, 3, 4, 5, 7, 8, 91626, isoforms=2, 3, 4, 5, 7, 8, 91398, and isoforms=2, 3, 4, 5, 6, 7, 8, 9754
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for PBRM1

No data available for DME Specific Peptides for PBRM1 Gene

Domains & Families for PBRM1 Gene

Gene Families for PBRM1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for PBRM1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PBRM1: view

No data available for UniProtKB/Swiss-Prot for PBRM1 Gene

Function for PBRM1 Gene

Molecular function for PBRM1 Gene

UniProtKB/Swiss-Prot Function:
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). Acts as a negative regulator of cell proliferation.

Phenotypes From GWAS Catalog for PBRM1 Gene

Gene Ontology (GO) - Molecular Function for PBRM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA,NAS 11078522
GO:0005515 protein binding IEA,IPI 11780067
GO:0015616 CONTRIBUTES_TO DNA translocase activity IBA --
genes like me logo Genes that share ontologies with PBRM1: view
genes like me logo Genes that share phenotypes with PBRM1: view

Animal Models for PBRM1 Gene

MGI Knock Outs for PBRM1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PBRM1

Clone Products

  • Addgene plasmids for PBRM1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PBRM1 Gene

Localization for PBRM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PBRM1 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PBRM1 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PBRM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000228 nuclear chromosome NAS 11078522
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0016586 RSC-type complex IEA --
genes like me logo Genes that share ontologies with PBRM1: view

Pathways & Interactions for PBRM1 Gene

genes like me logo Genes that share pathways with PBRM1: view

Pathways by source for PBRM1 Gene

1 Sino Biological pathway for PBRM1 Gene
1 KEGG pathway for PBRM1 Gene

SIGNOR curated interactions for PBRM1 Gene


Gene Ontology (GO) - Biological Process for PBRM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle TAS 11078522
GO:0006325 chromatin organization IEA --
GO:0006337 nucleosome disassembly IBA --
GO:0006338 chromatin remodeling TAS,IEA 11078522
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with PBRM1: view

Drugs & Compounds for PBRM1 Gene

(3) Drugs for PBRM1 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ribavirin Approved Pharma Target, inhibitor 1017
Viramidine Investigational Pharma Target 0
PFI 3 Pharma inhibitor of polybromo 1 and SMARCA4 0
genes like me logo Genes that share compounds with PBRM1: view

Transcripts for PBRM1 Gene

Unigene Clusters for PBRM1 Gene

Polybromo 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PBRM1

Clone Products

  • Addgene plasmids for PBRM1

Alternative Splicing Database (ASD) splice patterns (SP) for PBRM1 Gene

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: - -
SP5: -
SP7: -

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

Relevant External Links for PBRM1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PBRM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PBRM1 Gene

Protein differential expression in normal tissues from HIPED for PBRM1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (24.9) and CD8 Tcells (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PBRM1 Gene

Protein tissue co-expression partners for PBRM1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PBRM1 Gene:


SOURCE GeneReport for Unigene cluster for PBRM1 Gene:


mRNA Expression by UniProt/SwissProt for PBRM1 Gene:

Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for PBRM1 Gene

  • Liver(4.4)
  • Nervous system(2.5)
  • Gall bladder(2.2)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with PBRM1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PBRM1 Gene

Orthologs for PBRM1 Gene

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

Orthologs for PBRM1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PBRM1 34 33
  • 99.83 (n)
(Bos Taurus)
Mammalia PBRM1 34 33
  • 94.03 (n)
(Canis familiaris)
Mammalia PBRM1 34 33
  • 93.78 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 93 (a)
-- 34
  • 91 (a)
-- 34
  • 90 (a)
-- 34
  • 85 (a)
-- 34
  • 85 (a)
-- 34
  • 84 (a)
-- 34
  • 64 (a)
(Mus musculus)
Mammalia Pbrm1 16 34 33
  • 92.5 (n)
(Rattus norvegicus)
Mammalia Pbrm1 33
  • 91.66 (n)
(Monodelphis domestica)
Mammalia PBRM1 34
  • 87 (a)
(Gallus gallus)
Aves PBRM1 34 33
  • 81.75 (n)
(Anolis carolinensis)
Reptilia PBRM1 34
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pbrm1 33
  • 75.92 (n)
Str.6674 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.7528 33
(Danio rerio)
Actinopterygii PBRM1 (1 of 2) 34
  • 73 (a)
pbrm1 33
  • 70.22 (n)
pbrm1l 34
  • 63 (a)
Dr.13233 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001099 33
  • 50.69 (n)
fruit fly
(Drosophila melanogaster)
Insecta polybromo 34 33
  • 49.47 (n)
(Caenorhabditis elegans)
Secernentea pbrm-1 34 33
  • 47.25 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RSC2 34
  • 12 (a)
RSC1 36 34
  • 10 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
Species where no ortholog for PBRM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PBRM1 Gene

Gene Tree for PBRM1 (if available)
Gene Tree for PBRM1 (if available)
Evolutionary constrained regions (ECRs) for PBRM1: view image

Paralogs for PBRM1 Gene

(2) SIMAP similar genes for PBRM1 Gene using alignment to 9 proteins:

  • C9J053_HUMAN
  • C9J409_HUMAN
  • C9J9L6_HUMAN
  • H0Y5B5_HUMAN
genes like me logo Genes that share paralogs with PBRM1: view

No data available for Paralogs for PBRM1 Gene

Variants for PBRM1 Gene

Sequence variations from dbSNP and Humsavar for PBRM1 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs864321679 pathogenic, Clear cell carcinoma of kidney 52,563,364(-) CTCACTATCT/CT coding_sequence_variant, frameshift, non_coding_transcript_variant
rs144852450 uncertain-significance, not provided 52,550,571(-) G/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs142726131 not-provided, not specified 52,550,462(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs201397730 not-provided, not specified 52,548,224(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs373477703 not-provided, not specified 52,634,806(-) T/C/G coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PBRM1 Gene

Variant ID Type Subtype PubMed ID
dgv21e194 CNV deletion 18987734
esv1488186 CNV deletion 17803354
esv2442255 CNV deletion 19546169
esv2671058 CNV deletion 23128226
esv2725278 CNV deletion 23290073
esv3156 CNV loss 18987735
esv3561886 CNV deletion 23714750
esv3561888 CNV deletion 23714750
esv8459 CNV gain 19470904
esv9375 CNV loss 19470904
nsv1073644 CNV deletion 25765185
nsv1109514 CNV deletion 24896259
nsv1114379 CNV deletion 24896259
nsv1114380 CNV deletion 24896259
nsv508927 CNV insertion 20534489
nsv822091 CNV loss 20364138
nsv822092 CNV loss 20364138
nsv834697 CNV loss 17160897
nsv956274 CNV deletion 24416366

Variation tolerance for PBRM1 Gene

Residual Variation Intolerance Score: 1.35% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.46; 54.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PBRM1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PBRM1 Gene

Disorders for PBRM1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for PBRM1 Gene - From: HGMD, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
clear cell renal cell carcinoma
  • clear cell carcinoma of kidney
clear cell papillary renal cell carcinoma
collecting duct carcinoma
  • bdc
intrahepatic cholangiocarcinoma
  • intrahepatic bile duct carcinoma
  • cholangiocarcinoma, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search PBRM1 in MalaCards View complete list of genes associated with diseases


  • 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. {ECO:0000269 PubMed:21248752}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PBRM1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PBRM1: view

No data available for Genatlas for PBRM1 Gene

Publications for PBRM1 Gene

  1. The 3p21 candidate tumor suppressor gene BAF180 is normally expressed in human lung cancer. (PMID: 15735765) Sekine I … Minna JD (Oncogene 2005) 3 4 22 58
  2. The human SWI/SNF-B chromatin-remodeling complex is related to yeast rsc and localizes at kinetochores of mitotic chromosomes. (PMID: 11078522) Xue Y … Wang W (Proceedings of the National Academy of Sciences of the United States of America 2000) 2 3 4 58
  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. (PMID: 22479202) Dastani Z … Kathiresan S (PLoS genetics 2012) 3 44 58
  4. Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. (PMID: 21248752) Varela I … Futreal PA (Nature 2011) 3 4 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for PBRM1 Gene

Sources for PBRM1 Gene

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