Aliases for PBRM1 Gene
Aliases for PBRM1 Gene
External Ids for PBRM1 Gene
- HGNC: 30064
- Entrez Gene: 55193
- Ensembl: ENSG00000163939
- OMIM: 606083
- UniProtKB: Q86U86
Previous GeneCards Identifiers for PBRM1 Gene
- GC03M052554
Summaries 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 Papillary Renal Cell Carcinoma and Clear Cell Renal Cell Carcinoma. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Chromatin organization. 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.
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
- Transcription factor binding sites by QIAGEN in the PBRM1 gene promoter:
Regulatory Element Products
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
- Cytogenetic band:
-
- 3p21.1 by Ensembl
- 3p21.1 by Entrez Gene
- 3p21.1 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression for PBRM1 Gene
Post-translational modifications for PBRM1 Gene
Other Protein References for PBRM1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- NP_001337003.1
- NP_001337004.1
- NP_001337005.1
- NP_001337006.1
- NP_001337007.1
- NP_001337008.1
- NP_060783.3
- NP_851385.1
- XP_005265336.1
- XP_005265337.1
- XP_005265339.1
- XP_005265340.1
- XP_011532202.1
- XP_011532204.1
- XP_011532205.1
- XP_016862214.1
- XP_016862215.1
- XP_016862216.1
- XP_016862217.1
- XP_016862218.1
- XP_016862219.1
- XP_016862220.1
- XP_016862221.1
- XP_016862222.1
- XP_016862223.1
- XP_016862224.1
- XP_016862225.1
- XP_016862226.1
- XP_016862227.1
- XP_016862228.1
- XP_016862229.1
- XP_016862230.1
- XP_016862231.1
- XP_016862232.1
- XP_016862233.1
- XP_016862234.1
- XP_016862235.1
- XP_016862236.1
- XP_016862237.1
- XP_016862238.1
- XP_016862239.1
- XP_016862240.1
- XP_016862241.1
- XP_016862242.1
- XP_016862243.1
- XP_016862244.1
- XP_016862245.1
- XP_016862246.1
- XP_016862247.1
- XP_016862248.1
- XP_016862249.1
- XP_016862250.1
- XP_016862251.1
- XP_016862252.1
- XP_016862253.1
- XP_016862254.1
- XP_016862255.1
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for PBRM1
- Cell Signaling Technology (CST) Antibodies for PBRM1 (polybromo 1)
- Novus Biologicals Antibodies for PBRM1
-
Cloud-Clone Corp. Antibodies for PBRM1
- Invitrogen Antibodies for PBRM1
- antibodies-online Antibodies for PBRM1: See all 30
- GeneTex PBRM1 antibody for PBRM1
-
Santa Cruz Biotechnology (SCBT) Antibodies for PBRM1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for PBRM1
- Origene Custom Protein Services for PBRM1
-
Cloud-Clone Corp. Proteins for PBRM1
- antibodies-online Proteins for PBRM1: See all 14
- Search antibodies-online for peptides
- Search GeneTex for Proteins for PBRM1
Assay Products
- antibodies-online Kits for PBRM1: See all 3
No data available for DME Specific Peptides for PBRM1 Gene
Domains & Families for PBRM1 Gene
Protein Domains for PBRM1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for PBRM1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for Gene Families and 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). Acts as a negative regulator of cell proliferation.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003682 | chromatin binding | IEA,NAS | 11078522 |
| GO:0005515 | protein binding | IPI | 11780067 |
Phenotypes for PBRM1 Gene
- MGI mutant phenotypes for PBRM1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for PBRM1:
Animal Models for PBRM1 Gene
- MGI Knock Outs for PBRM1:
-
- Pbrm1 tm1Rtj
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PBRM1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for PBRM1 gene
- Search ViGene Biosciences for PBRM1
CRISPR Products
-
OriGene CRISPR knockouts for PBRM1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PBRM1
- GenScript: Design CRISPR guide RNA sequences for PBRM1
miRNA for PBRM1 Gene
- miRTarBase miRNAs that target PBRM1
-
- hsa-mir-30a-5p (MIRT005153)
- hsa-mir-155-5p (MIRT020793)
- hsa-mir-93-5p (MIRT028017)
- hsa-mir-21-5p (MIRT030867)
- hsa-mir-1229-3p (MIRT036263)
- hsa-mir-1226-3p (MIRT036515)
- hsa-mir-877-3p (MIRT036962)
- hsa-mir-3686 (MIRT547184)
- hsa-mir-3607-3p (MIRT547185)
- hsa-mir-4528 (MIRT547186)
- hsa-mir-5583-5p (MIRT547187)
- hsa-mir-3129-3p (MIRT547188)
- hsa-mir-7844-5p (MIRT547189)
- hsa-mir-30e-5p (MIRT547190)
- hsa-mir-30d-5p (MIRT547191)
- hsa-mir-30b-5p (MIRT547192)
- hsa-mir-30c-5p (MIRT547193)
- hsa-mir-181c-5p (MIRT727001)
- hsa-mir-181d-5p (MIRT727002)
- hsa-mir-181b-5p (MIRT727003)
- hsa-mir-181a-5p (MIRT727004)
miRNA Products
- Search ViGene Biosciences for PBRM1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for PBRM1
- Browse OriGene Inhibitory RNA Products For PBRM1
- Search ViGene Biosciences for PBRM1
Clone Products
-
GenScript: Next-day shipping cDNA ORF clone for PBRM1 in any vector
- NM_018313
- XM_011533919
- XM_011533918
- XM_011533917
- XM_011533916
- XM_011533915
- XM_011533914
- XM_011533913
- XM_011533912
- XM_011533911
- XM_011533910
- XM_011533909
- XM_005265283
- XM_005265282
- XM_011533908
- XM_005265280
- XM_005265279
- XM_011533907
- XM_011533906
- XM_005265275
- XM_006713220
- XM_006713221
- XM_011533905
- XM_011533904
- XM_011533903
- XM_011533902
- XM_011533901
- XM_011533900
- Sino Biological Human cDNA Clone for PBRM1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for PBRM1
- VectorBuilder custom plasmid, inducible vectors for PBRM1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PBRM1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for PBRM1
-
ViGene Biosciences adenoviral particle packaged cDNA for PBRM1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for PBRM1 gene
- Search ViGene Biosciences for PBRM1
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-12884) 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
- Nucleus.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000228 | nuclear chromosome | NAS | 11078522 |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0090544 | BAF-type complex | IDA | 12368262 |
Pathways & Interactions for PBRM1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Chromatin organization | ||
| 2 | Apoptosis Modulation and Signaling | ||
| 3 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 | ||
Pathways by source for PBRM1 Gene
1 Sino Biological pathway for PBRM1 Gene
3 Reactome pathways for PBRM1 Gene
Interacting Proteins for PBRM1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000278 | mitotic cell cycle | TAS | 11078522 |
| 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 | -- |
Drugs & Compounds for PBRM1 Gene
(1) ApexBio Compounds for PBRM1 Gene
| Compound | Action | Cas Number |
|---|---|---|
| PFI 3 | inhibitor of polybromo 1 and SMARCA4 |
Drug Products
- ApexBio compounds for PBRM1
Transcripts for PBRM1 Gene
mRNA/cDNA for PBRM1 Gene
- (59) REFSEQ mRNAs :
- (20) Additional mRNA sequences :
- (310) Selected AceView cDNA sequences:
- (20) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for PBRM1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PBRM1
- GenScript: Design CRISPR guide RNA sequences for PBRM1
miRNA Products
- Search ViGene Biosciences for PBRM1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for PBRM1
- Browse OriGene Inhibitory RNA Products For PBRM1
- Search ViGene Biosciences for PBRM1
Clone Products
-
GenScript: Next-day shipping cDNA ORF clone for PBRM1 in any vector
- NM_018313
- XM_011533919
- XM_011533918
- XM_011533917
- XM_011533916
- XM_011533915
- XM_011533914
- XM_011533913
- XM_011533912
- XM_011533911
- XM_011533910
- XM_011533909
- XM_005265283
- XM_005265282
- XM_011533908
- XM_005265280
- XM_005265279
- XM_011533907
- XM_011533906
- XM_005265275
- XM_006713220
- XM_006713221
- XM_011533905
- XM_011533904
- XM_011533903
- XM_011533902
- XM_011533901
- XM_011533900
- Sino Biological Human cDNA Clone for PBRM1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for PBRM1
- VectorBuilder custom plasmid, inducible vectors for PBRM1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PBRM1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-12884) for PBRM1
| 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: |
Expression for PBRM1 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PBRM1 Gene
NURSA nuclear receptor signaling pathways regulating expression of PBRM1 Gene:
PBRM1SOURCE GeneReport for Unigene cluster for PBRM1 Gene:
Hs.189920mRNA Expression by UniProt/SwissProt for PBRM1 Gene:
Q86U86-PB1_HUMANEvidence on tissue expression from TISSUES for PBRM1 Gene
- Liver(4.3)
- Nervous system(2.5)
- Gall bladder(2.1)
- Kidney(2.1)
Primer Products
-
OriGene qPCR primer pairs for PBRM1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PBRM1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | PBRM1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | PBRM1 34 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| mouse (Mus musculus) |
Mammalia | Pbrm1 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pbrm1 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | PBRM1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PBRM1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | PBRM1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pbrm1 34 |
|
||
| Str.6674 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.7528 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | PBRM1 (1 of 2) 35 |
|
OneToMany | |
| pbrm1 34 |
|
||||
| pbrm1l 35 |
|
OneToMany | |||
| Dr.13233 34 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001099 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | polybromo 34 35 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | pbrm-1 34 35 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RSC2 35 |
|
OneToMany | |
| RSC1 35 37 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToOne |
- 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)
Paralogs for PBRM1 Gene
(2) SIMAP similar genes for PBRM1 Gene using alignment to 9 proteins:
No data available for Paralogs for PBRM1 Gene
Variants for PBRM1 Gene
| SNP ID | Clin | Chr 03 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs864321679 | Pathogenic | 52,563,364(-) | AGAAG(-/ATAGTGAG)GTCAT | nc-transcript-variant, reference, frameshift-variant | |
| rs142726131 | untested | 52,550,462(+) | ACTCC(A/G)CACTG | nc-transcript-variant, reference, missense | |
| rs201397730 | untested | 52,548,224(+) | GACGT(C/T)GCGTC | nc-transcript-variant, reference, missense | |
| rs373477703 | untested | 52,634,806(+) | CTTCA(C/G/T)AGCGT | nc-transcript-variant, reference, missense | |
| rs547790173 | untested | 52,642,043(+) | TTTTA(C/T)TACTA | nc-transcript-variant, reference, missense |
| 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 |
Relevant External Links for PBRM1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PBRM1 Gene
Disorders for PBRM1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| clear cell papillary renal cell carcinoma |
|
|
| clear cell renal cell carcinoma |
|
|
| kidney cancer |
|
|
| epithelioid sarcoma |
|
|
| renal clear cell carcinoma |
|
|
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
No data available for Genatlas for PBRM1 Gene
Publications for PBRM1 Gene
- 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 22 64
- 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 64
- 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 Genet. 2012) 3 46 64
- Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. (PMID: 21248752) Varela I. … Futreal P.A. (Nature 2011) 3 4 64
- Meta-analysis of genome-wide association data identifies a risk locus for major mood disorders on 3p21.1. (PMID: 20081856) McMahon F.J. … Rietschel M. (Nat. Genet. 2010) 3 46 64
Products for PBRM1 Gene
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- antibodies-online Antibodies for PBRM1: See all 30
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- antibodies-online Proteins for PBRM1: See all 14
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Sources for PBRM1 Gene
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