Human Gene PBRM1 (ENST00000394830.7) from GENCODE V44
Description: Homo sapiens polybromo 1 (PBRM1), transcript variant 2, mRNA. (from RefSeq NM_018313) RefSeq Summary (NM_018313): 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]. Gencode Transcript: ENST00000394830.7 Gencode Gene: ENSG00000163939.19 Transcript (Including UTRs) Position: hg38 chr3:52,547,841-52,685,836 Size: 137,996 Total Exon Count: 30 Strand: - Coding Region Position: hg38 chr3:52,548,063-52,679,711 Size: 131,649 Coding Exon Count: 29
ID:PB1_HUMAN DESCRIPTION: RecName: Full=Protein polybromo-1; Short=hPB1; AltName: Full=BRG1-associated factor 180; Short=BAF180; AltName: Full=Polybromo-1D; 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. SUBUNIT: 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). INTERACTION: Q68CP9:ARID2; NbExp=5; IntAct=EBI-637807, EBI-637818; P51532:SMARCA4; NbExp=4; IntAct=EBI-637807, EBI-302489; SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Widely expressed. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in PBRM1 are a cause of renal cell carcinoma (RCC) [MIM:144700]. It 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. SIMILARITY: Contains 2 BAH domains. SIMILARITY: Contains 6 bromo domains. SIMILARITY: Contains 1 HMG box DNA-binding domain. SEQUENCE CAUTION: Sequence=AAI15010.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence; Sequence=AAI15011.1; Type=Erroneous initiation; Sequence=AAI15012.1; Type=Erroneous termination; Positions=78; Note=Translated as Arg; Sequence=BAB71210.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q86U86
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
