Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55193
Gene name Gene Name - the full gene name approved by the HGNC.
Polybromo 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PBRM1
Synonyms (NCBI Gene) Gene synonyms aliases
BAF180, PB1, RCC, SMARCH1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
RCC
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.1
Summary Summary of gene provided in NCBI Entrez 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 a
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs864321679 CACTATCT>- Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005153 hsa-miR-30a-5p pSILAC 18668040
MIRT020793 hsa-miR-155-5p Proteomics 18668040
MIRT020793 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT028017 hsa-miR-93-5p Sequencing 20371350
MIRT005153 hsa-miR-30a-5p Proteomics;Other 18668040
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000228 Component Nuclear chromosome NAS 11078522
GO:0000278 Process Mitotic cell cycle TAS 11078522
GO:0003677 Function DNA binding IEA
GO:0003682 Function Chromatin binding IBA 21873635
GO:0003682 Function Chromatin binding NAS 11078522
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606083 30064 ENSG00000163939
Protein
UniProt ID Q86U86
Protein name Protein polybromo-1 (hPB1) (BRG1-associated factor 180) (BAF180) (Polybromo-1D)
Protein 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 re
PDB 2KTB , 3G0J , 3HMF , 3IU5 , 3IU6 , 3K2J , 3LJW , 3MB4 , 3TLP , 4Q0N , 4Q0O , 4Y03 , 5E7D , 5FH6 , 5FH7 , 5FH8 , 5HRV , 5HRW , 5HRX , 5II1 , 5II2 , 5IID , 6OXB , 6ZN6 , 6ZNV , 6ZS3 , 6ZS4 , 7VDV , 7Y8R , 8FTA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00439 Bromodomain 54 139 Bromodomain Domain
PF00439 Bromodomain 186 275 Bromodomain Domain
PF00439 Bromodomain 393 475 Bromodomain Domain
PF00439 Bromodomain 537 613 Bromodomain Domain
PF00439 Bromodomain 667 751 Bromodomain Domain
PF00439 Bromodomain 783 867 Bromodomain Domain
PF01426 BAH 956 1074 BAH domain Domain
PF01426 BAH 1156 1272 BAH domain Domain
PF00505 HMG_box 1379 1446 HMG (high mobility group) box Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:12487023}.
Sequence
MGSKRRRATSPSSSVSGDFDDGHHSVSTPGPSRKRRRLSNLPTVDPIAVCHELYNTIRDY
KDEQGRLLCELFIRAPKRRNQPDYYEVVSQPIDLMKIQQKLKMEEYDDVNLLTADFQLLF
NNAKSYYKPDSPEYKAACK
LWDLYLRTRNEFVQKGEADDEDDDEDGQDNQGTVTEGSSPA
YLKEILEQLLEAIVVATNPSGRLISELFQKLPSKVQYPDYYAIIKEPIDLKTIAQRIQNG
SYKSIHAMAKDIDLLAKNAKTYNEPGSQVFKDANS
IKKIFYMKKAEIEHHEMAKSSLRMR
TPSNLAAARLTGPSHSKGSLGEERNPTSKYYRNKRAVQGGRLSAITMALQYGSESEEDAA
LAAARYEEGESEAESITSFMDVSNPFYQLYDTVRSCRNNQGQLIAEPFYHLPSKKKYPDY
YQQIKMPISLQQIRTKLKNQEYETLDHLECDLNLMFENAKRYNVPNSAIYKRVLK
LQQVM
QAKKKELARRDDIEDGDSMISSATSDTGSAKRKSKKNIRKQRMKILFNVVLEAREPGSGR
RLCDLFMVKPSKKDYPDYYKIILEPMDLKIIEHNIRNDKYAGEEGMIEDMKLMFRNARHY
NEEGSQVYNDAHI
LEKLLKEKRKELGPLPDDDDMASPKLKLSRKSGISPKKSKYMTPMQQ
KLNEVYEAVKNYTDKRGRRLSAIFLRLPSRSELPDYYLTIKKPMDMEKIRSHMMANKYQD
IDSMVEDFVMMFNNACTYNEPESLIYKDALV
LHKVLLETRRDLEGDEDSHVPNVTLLIQE
LIHNLFVSVMSHQDDEGRCYSDSLAEIPAVDPNFPNKPPLTFDIIRKNVENNRYRRLDLF
QEHMFEVLERARRMNRTDSEIYEDAVE
LQQFFIKIRDELCKNGEILLSPALSYTTKHLHN
DVEKERKEKLPKEIEEDKLKREEEKREAEKSEDSSGAAGLSGLHRTYSQDCSFKNSMYHV
GDYVYVEPAEANLQPHIVCIERLWEDSAGEKWLYGCWFYRPNETFHLATRKFLEKEVFKS
DYYNKVPVSKILGKCVVMFVKEYFKLCPENFRDEDVFVCESRYSAKTKSFKKIK
LWTMPI
SSVRFVPRDVPLPVVRVASVFANADKGDDEKNTDNSEDSRAEDNFNLEKEKEDVPVEMSN
GEPGCHYFEQLHYNDMWLKVGDCVFIKSHGLVRPRVGRIEKVWVRDGAAYFYGPIFIHPE
ETEHEPTKMFYKKEVFLSNLEETCPMTCILGKCAVLSFKDFLSCRPTEIPENDILLCESR
YNESDKQMKKFK
GLKRFSLSAKVVDDEIYYFRKPIVPQKEPSPLLEKKIQLLEAKFAELE
GGDDDIEEMGEEDSEVIEPPSLPQLQTPLASELDLMPYTPPQSTPKSAKGSAKKEGSKRK
INMSGYILFSSEMRAVIKAQHPDYSFGELSRLVGTEWRNLETAKKAEYEERAAKVAEQQE
RERAAQ
QQQPSASPRAGTPVGALMGVVPPPTPMGMLNQQLTPVAGMMGGYPPGLPPLQGP
VDGLVSMGSMQPLHPGGPPPHHLPPGVPGLPGIPPPGVMNQGVAPMVGTPAPGGSPYGQQ
VGVLGPPGQQAPPPYPGPHPAGPPVIQQPTTPMFVAPPPKTQRLLHSEAYLKYIEGLSAE
SNSISKWDQTLAARRRDVHLSKEQESRLPSHWLKSKGAHTTMADALWRLRDLMLRDTLNI
RQAYNLENV
Sequence length 1689
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  ATP-dependent chromatin remodeling
Hepatocellular carcinoma
  RMTs methylate histone arginines
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast adenocarcinoma Breast adenocarcinoma rs28934874, rs112445441, rs121913279, rs121913286, rs104886003, rs121434592
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
Papillary renal carcinoma Papillary Renal Cell Carcinoma, Clear cell papillary renal cell carcinoma rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724 23797736, 22138691, 25911086
Unknown
Disease term Disease name Evidence References Source
Cholangiocarcinoma Cholangiocarcinoma, Extrahepatic Cholangiocarcinoma 24185509 ClinVar
Chromophobe carcinoma Chromophobe Renal Cell Carcinoma 22138691, 23797736 ClinVar
Mental depression Major Depressive Disorder 22472876 ClinVar
Hypertension Hypertension GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Clear Cell Associate 37697729
Adenocarcinoma of Lung Associate 35301413
Anemia Aplastic Stimulate 29596882
Bile Duct Neoplasms Associate 31122820
Biliary Tract Neoplasms Associate 29360550, 34145795, 37341068
Breast Neoplasms Associate 18339845, 26464681, 36404592
Calcinosis Cutis Associate 28327121
Carcinogenesis Associate 18339845, 27100670, 28394406, 36261012
Carcinoma Associate 28731042, 34118935
Carcinoma Non Small Cell Lung Associate 36456601