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Aliases for PBRM1 Gene

Aliases for PBRM1 Gene

  • Polybromo 1 2 3
  • BAF180 3 4 6
  • PB1 3 4 6
  • BRG1-Associated Factor 180 3 4
  • Polybromo-1D 3 4
  • Protein Polybromo-1 3
  • HPB1 4

External Ids for PBRM1 Gene

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 renal cell carcinoma and clear cell renal cell carcinoma. 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

Genomic Location for PBRM1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PBRM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PBRM1 Gene

Regulatory Elements for PBRM1 Gene

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

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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys754, Lys1398, Lys1626, and Lys1642

No data available for DME Specific Peptides for PBRM1 Gene

Domains for PBRM1 Gene

Protein Domains for PBRM1 Gene

UniProtKB/Swiss-Prot:

PB1_HUMAN
Domain:
  • Contains 2 BAH domains.:
    • Q86U86
  • Contains 6 bromo domains.:
    • Q86U86
  • Contains 1 HMG box DNA-binding domain.:
    • Q86U86
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.

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 NAS 11078522
GO:0005515 protein binding IPI 11780067
genes like me logo Genes that share ontologies with PBRM1: view
genes like me logo Genes that share phenotypes with PBRM1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for PBRM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000228 nuclear chromosome NAS 11078522
GO:0000776 kinetochore IEA --
genes like me logo Genes that share ontologies with PBRM1: view

Pathways for PBRM1 Gene

SuperPathways for PBRM1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PBRM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001890 placenta development IEA --
GO:0006338 chromatin remodeling TAS 11078522
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007067 mitotic nuclear division TAS 11078522
genes like me logo Genes that share ontologies with PBRM1: view

No data available for Pathways by source for PBRM1 Gene

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

Integrated Proteomics: protein expression 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 expressions with PBRM1: view

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
chimpanzee
(Pan troglodytes)
Mammalia PBRM1 36
  • 99.83 (n)
  • 99.94 (a)
PBRM1 37
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PBRM1 36
  • 94.03 (n)
  • 98.1 (a)
PBRM1 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PBRM1 36
  • 93.78 (n)
  • 98.29 (a)
PBRM1 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pbrm1 36
  • 92.5 (n)
  • 98.17 (a)
Pbrm1 16
Pbrm1 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PBRM1 37
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 85 (a)
OneToMany
-- 37
  • 84 (a)
OneToMany
-- 37
  • 93 (a)
OneToMany
-- 37
  • 91 (a)
OneToMany
-- 37
  • 64 (a)
OneToMany
-- 37
  • 90 (a)
OneToMany
-- 37
  • 85 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Pbrm1 36
  • 91.66 (n)
  • 97.41 (a)
chicken
(Gallus gallus)
Aves PBRM1 36
  • 81.75 (n)
  • 91.25 (a)
PBRM1 37
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PBRM1 37
  • 82 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7528 36
tropical clawed frog
(Silurana tropicalis)
Amphibia pbrm1 36
  • 75.92 (n)
  • 85.4 (a)
Str.6674 36
zebrafish
(Danio rerio)
Actinopterygii Dr.13233 36
pbrm1 36
  • 70.22 (n)
  • 76.59 (a)
PBRM1 (1 of 2) 37
  • 73 (a)
OneToMany
pbrm1l 37
  • 63 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001099 36
  • 50.69 (n)
  • 43.43 (a)
fruit fly
(Drosophila melanogaster)
Insecta polybromo 36
  • 49.47 (n)
  • 42.05 (a)
polybromo 37
  • 17 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea pbrm-1 36
  • 47.25 (n)
  • 36.36 (a)
pbrm-1 37
  • 15 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RSC1 37
  • 10 (a)
OneToMany
RSC1 39
RSC2 37
  • 12 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected 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 MAF
rs1570 -- 52,552,666(+) CTATG(A/T)CCCAA intron-variant
rs13667 -- 52,557,882(-) TTTAG(A/G/T)TGGTG intron-variant
rs934838 -- 52,679,821(-) TCCTC(C/T)TAAGT intron-variant
rs934839 -- 52,649,882(-) TCTTT(A/C)CAAAA intron-variant
rs1136585 -- 52,545,571(-) GGGGC(A/C)CCTAT utr-variant-3-prime

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

Relevant External Links for PBRM1 Gene

HapMap Linkage Disequilibrium report
PBRM1

Disorders for PBRM1 Gene

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.

(1) University of Copenhagen DISEASES for PBRM1 Gene

Relevant External Links for PBRM1

Genetic Association Database (GAD)
PBRM1
Human Genome Epidemiology (HuGE) Navigator
PBRM1
genes like me logo Genes that share disorders with PBRM1: view

Publications for PBRM1 Gene

  1. The 3p21 candidate tumor suppressor gene BAF180 is normally expressed in human lung cancer. (PMID: 15735765) Sekine I. … Minna J.D. (Oncogene 2005) 3 4 23
  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. (Proc. Natl. Acad. Sci. U.S.A. 2000) 2 3 4
  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. Selectivity of chromatin-remodelling cofactors for ligand-activated transcription. (PMID: 11780067) Lemon B. … Tjian R. (Nature 2001) 3 4
  5. cDNA cloning of the human polybromo-1 gene on chromosome 3p21. (PMID: 12487023) Horikawa I. … Barrett J.C. (DNA Seq. 2002) 3 4

Products for PBRM1 Gene

  • Addgene plasmids for PBRM1

Sources for PBRM1 Gene

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