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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
  • 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]

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 Chromatin organization and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. 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). Acts as a negative regulator of cell proliferation.

Gene Wiki entry 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

Regulatory Elements for PBRM1 Gene

Enhancers for PBRM1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PBRM1 on UCSC Golden Path with GeneCards custom track

Promoters for PBRM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PBRM1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the PBRM1 gene promoter:

Genomic Location for PBRM1 Gene

Chromosome:
3
Start:
52,545,352 bp from pter
End:
52,685,917 bp from pter
Size:
140,566 bases
Orientation:
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:
    Q86U86-PB1_HUMAN
    Recommended name:
    Protein polybromo-1
    Protein Accession:
    Q86U86
    Secondary Accessions:
    • A1L381
    • A1L382
    • A4FUJ7
    • Q1RMD1
    • Q1RMD2
    • Q96MS2
    • Q9H2T3
    • Q9H2T4
    • Q9H2T5
    • Q9H301
    • Q9H314

    Protein attributes for PBRM1 Gene

    Size:
    1689 amino acids
    Molecular mass:
    192948 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAI15010.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence.; Evidence={ECO:0000305}; Sequence=AAI15011.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI15012.1; Type=Erroneous termination; Positions=78; Note=Translated as Arg.; Evidence={ECO:0000305}; Sequence=BAB71210.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PBRM1 Gene

    Alternative splice isoforms for PBRM1 Gene

neXtProt entry for PBRM1 Gene

Proteomics data for PBRM1 Gene at MOPED

Post-translational modifications for PBRM1 Gene

  • Ubiquitination at Lys 754, Lys 1398, Lys 1626, and Lys 1642
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for PBRM1 Gene

Domains & Families for PBRM1 Gene

Protein Domains for PBRM1 Gene

Suggested Antigen Peptide Sequences for PBRM1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86U86

UniProtKB/Swiss-Prot:

PB1_HUMAN :
  • Contains 2 BAH domains.
Domain:
  • Contains 2 BAH domains.
  • Contains 6 bromo domains.
  • Contains 1 HMG box DNA-binding domain.
genes like me logo Genes that share domains with PBRM1: view

No data available for Gene Families 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). Acts as a negative regulator of cell proliferation.
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

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PBRM1 Gene COMPARTMENTS Subcellular localization image for PBRM1 gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for PBRM1 Gene

Pathways & Interactions for PBRM1 Gene

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

Pathways by source for PBRM1 Gene

SIGNOR curated interactions for PBRM1 Gene

Activates:

Gene Ontology (GO) - Biological Process for PBRM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007067 mitotic nuclear division TAS 11078522
genes like me logo Genes that share ontologies with PBRM1: view

Drugs & Compounds for PBRM1 Gene

(1) Drugs for PBRM1 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ribavirin Approved Pharma Target, inhibitor 962
genes like me logo Genes that share compounds with PBRM1: view

Transcripts for PBRM1 Gene

Unigene Clusters for PBRM1 Gene

Polybromo 1:
Representative Sequences:

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: - -
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7: -

ExUns: 23b ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for PBRM1 Gene

GeneLoc Exon Structure for
PBRM1
ECgene alternative splicing isoforms for
PBRM1

Expression for PBRM1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for PBRM1 Gene



SOURCE GeneReport for Unigene cluster for PBRM1 Gene Hs.189920

mRNA Expression by UniProt/SwissProt for PBRM1 Gene

Q86U86-PB1_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with PBRM1: view

Protein tissue co-expression partners for PBRM1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia PBRM1 35
  • 94.03 (n)
  • 98.1 (a)
PBRM1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PBRM1 35
  • 93.78 (n)
  • 98.29 (a)
PBRM1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pbrm1 35
  • 92.5 (n)
  • 98.17 (a)
Pbrm1 16
Pbrm1 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PBRM1 35
  • 99.83 (n)
  • 99.94 (a)
PBRM1 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pbrm1 35
  • 91.66 (n)
  • 97.41 (a)
oppossum
(Monodelphis domestica)
Mammalia PBRM1 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 85 (a)
OneToMany
-- 36
  • 84 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
-- 36
  • 91 (a)
OneToMany
-- 36
  • 64 (a)
OneToMany
-- 36
  • 90 (a)
OneToMany
-- 36
  • 85 (a)
OneToMany
chicken
(Gallus gallus)
Aves PBRM1 35
  • 81.75 (n)
  • 91.25 (a)
PBRM1 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PBRM1 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pbrm1 35
  • 75.92 (n)
  • 85.4 (a)
Str.6674 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.7528 35
zebrafish
(Danio rerio)
Actinopterygii Dr.13233 35
pbrm1 35
  • 70.22 (n)
  • 76.59 (a)
PBRM1 (1 of 2) 36
  • 73 (a)
OneToMany
pbrm1l 36
  • 63 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001099 35
  • 50.69 (n)
  • 43.43 (a)
fruit fly
(Drosophila melanogaster)
Insecta polybromo 35
  • 49.47 (n)
  • 42.05 (a)
polybromo 36
  • 17 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea pbrm-1 35
  • 47.25 (n)
  • 36.36 (a)
pbrm-1 36
  • 15 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RSC1 36
  • 10 (a)
OneToMany
RSC2 36
  • 12 (a)
OneToMany
RSC1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToOne
Species with no ortholog for PBRM1:
  • 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

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

Paralogs for PBRM1 Gene

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

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 Sequence Context AA Info Type
VAR_064653 -
VAR_064654 -
VAR_064656 -
VAR_064657 -
VAR_064658 -

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

Variant ID Type Subtype PubMed ID
nsv834697 CNV Loss 17160897
dgv5137n71 CNV Loss 21882294
nsv822091 CNV Loss 20364138
esv8459 CNV Gain 19470904
nsv822092 CNV Loss 20364138
nsv508927 CNV Insertion 20534489
esv2671058 CNV Deletion 23128226
esv2442255 CNV Deletion 19546169
dgv21e194 CNV Deletion 18987734
esv3156 CNV Deletion 18987735
esv2725278 CNV Deletion 23290073
esv9375 CNV Loss 19470904
esv1488186 CNV Deletion 17803354

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)

Relevant External Links for PBRM1 Gene

HapMap Linkage Disequilibrium report
PBRM1
Human Gene Mutation Database (HGMD)
PBRM1

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

Disorders for PBRM1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for PBRM1 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
clear cell renal cell carcinoma
  • clear-cell metastatic renal cell carcinoma
clear cell papillary renal cell carcinoma
renal cell carcinoma
  • renal cell carcinoma, clear cell, somatic
collecting duct carcinoma
  • carcinoma of renal collecting duct
epithelioid sarcoma
  • epithelioid cell sarcoma
- elite association - COSMIC cancer census association via MalaCards
Search PBRM1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PB1_HUMAN
  • 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.

Relevant External Links for PBRM1

Genetic Association Database (GAD)
PBRM1
Human Genome Epidemiology (HuGE) Navigator
PBRM1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PBRM1
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 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. (Proc. Natl. Acad. Sci. U.S.A. 2000) 2 3 4 67
  2. The 3p21 candidate tumor suppressor gene BAF180 is normally expressed in human lung cancer. (PMID: 15735765) Sekine I. … Minna J.D. (Oncogene 2005) 3 23
  3. Gene expression profiling in human fetal liver and identification of tissue- and developmental-stage-specific genes through compiled expression profiles and efficient cloning of full-length cDNAs. (PMID: 11483580) Yu Y. … He F. (Genome Res. 2001) 2 3
  4. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3
  5. Loss of PBRM1 and BAP1 expression is less common in non-clear cell renal cell carcinoma than in clear cell renal cell carcinoma. (PMID: 25465300) Ho T.H. … Parker A.S. (Urol. Oncol. 2015) 3

Products for PBRM1 Gene

Sources for PBRM1 Gene

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