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Details on Person UniProt:Q15029 EFTUD2
| Class:Id | ReferenceGeneProduct:71882 |
|---|---|
| _chainChangeLog | chain:1-972 added on Fri February 6 2015 |
| _displayName | UniProt:Q15029 EFTUD2 |
| _timestamp | 2024-11-03 20:12:35 |
| chain | chain:1-972 |
| checksum | 862BD6CA7993F118 |
| comment | FUNCTION Required for pre-mRNA splicing as component of the spliceosome, including pre-catalytic, catalytic and post-catalytic spliceosomal complexes (PubMed:25092792, PubMed:28076346, PubMed:28502770, PubMed:28781166, PubMed:29301961, PubMed:29360106, PubMed:29361316, PubMed:30315277, PubMed:30705154). Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome (PubMed:16723661). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable).SUBUNIT Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome (PubMed:16723661, PubMed:26912367). The U4/U6-U5 tri-snRNP complex is 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 (PubMed:16723661, PubMed:26912367). Component of the pre-catalytic, catalytic and post-catalytic spliceosome complexes (PubMed:28076346, PubMed:28502770, PubMed:28781166, PubMed:29301961, PubMed:29360106, PubMed:29361316, PubMed:30315277, PubMed:30705154). Component of the minor spliceosome, which splices U12-type introns. Within this complex, interacts with CRIPT (PubMed:33509932). Interacts with ERBB4 and PRPF8. Interacts with PIH1D1 (PubMed:24656813). Interacts with RPAP3 and URI1 in a ZNHIT2-dependent manner (PubMed:28561026). Interacts with NRDE2 (PubMed:30538148). Interacts with FAM50A (PubMed:32703943). Interacts with UBL5 (PubMed:25092792).INTERACTION The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF-2 subfamily.SEQUENCE CAUTION Extended N-terminus. |
| description | recommendedName: 116 kDa U5 small nuclear ribonucleoprotein component alternativeName: Elongation factor Tu GTP-binding domain-containing protein 2 alternativeName: SNU114 homolog shortName: hSNU114 alternativeName: U5 snRNP-specific protein, 116 kDa shortName: U5-116 kDa |
| geneName | EFTUD2 KIAA0031 SNRP116 |
| identifier | Q15029 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acetylation Alternative splicing Disease variant GTP-binding Intellectual disability Isopeptide bond mRNA processing mRNA splicing Nucleotide-binding Nucleus Phosphoprotein Proteomics identification Reference proteome Spliceosome Ubl conjugation |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9862192] Weiser, Joel, 2024-02-26 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | EFTUD2 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8998078] ENSEMBL:ENSG00000108883 EFTUD2 [Homo sapiens] |
| secondaryIdentifier | U5S1_HUMAN B4DK30 B4DMC0 D3DX58 K7EJ81 Q9BUR0 |
| sequenceLength | 972 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:8966343] UniProt:Q15029-1 EFTUD2 [Homo sapiens] [ReferenceIsoform:8966344] UniProt:Q15029-2 EFTUD2 [Homo sapiens] [ReferenceIsoform:8966345] UniProt:Q15029-3 EFTUD2 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:71883] EFTUD2 [nucleoplasm] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:Q15029 EFTUD2 (71882)
