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Details on Person UniProt:O94906 PRPF6
| Class:Id | ReferenceGeneProduct:71880 |
|---|---|
| _chainChangeLog | chain:1-941 added on Fri February 6 2015 |
| _displayName | UniProt:O94906 PRPF6 |
| _timestamp | 2024-11-03 20:20:53 |
| chain | chain:1-941 |
| checksum | 91C2F1ADCA439BE9 |
| comment | FUNCTION Involved in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex, one of the building blocks of the spliceosome (PubMed:20118938, PubMed:21549338, PubMed:28781166). Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but does not affect estrogen-induced transactivation.SUBUNIT Identified in the spliceosome B complex (PubMed:28781166). Identified in the spliceosome C complex (PubMed:11991638). Associates with the U5 snRNP particle (PubMed:10788320). Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39, LSm proteins LSm2-8 and Sm proteins (PubMed:16723661, PubMed:26912367, PubMed:28781166). Interacts with ARAF (PubMed:10848612). Interacts with AR and NR3C1, but not ESR1, independently of the presence of hormones (PubMed:12039962). Interacts with USH1G (PubMed:34023904).INTERACTION Localized in splicing speckles.ALTERNATIVE PRODUCTS Widely expressed.PTM Phosphorylated by PRP4K during spliceosome assembly.DISEASE The disease may be caused by variants affecting the gene represented in this entry. Cells from RP60 patients show intron retention for pre-mRNA bearing specific splicing signals. |
| description | recommendedName: Pre-mRNA-processing factor 6 alternativeName: Androgen receptor N-terminal domain-transactivating protein 1 shortName: ANT-1 alternativeName: PRP6 homolog alternativeName: U5 snRNP-associated 102 kDa protein shortName: U5-102 kDa protein |
| geneName | PRPF6 C20orf14 |
| identifier | O94906 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Alternative splicing Direct protein sequencing Disease variant mRNA processing mRNA splicing Nucleus Phosphoprotein Proteomics identification Reference proteome Repeat Retinitis pigmentosa Spliceosome |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | PRPF6 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8995631] ENSEMBL:ENSG00000101161 PRPF6 [Homo sapiens] |
| secondaryIdentifier | PRP6_HUMAN B2RAR5 B3KMC6 O95109 Q5VXS5 Q9H3Z1 Q9H4T9 Q9H4U8 Q9NTE6 |
| sequenceLength | 941 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:8977157] UniProt:O94906-1 PRPF6 [Homo sapiens] [ReferenceIsoform:8977158] UniProt:O94906-2 PRPF6 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:71881] PRPF6 [nucleoplasm] [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:O94906 PRPF6 (71880)
