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Details on Person UniProt:Q15029 EFTUD2

Class:IdReferenceGeneProduct:71882
_chainChangeLogchain:1-972 added on Fri February 6 2015
_displayNameUniProt:Q15029 EFTUD2
_timestamp2024-11-03 20:12:35
chainchain:1-972
checksum862BD6CA7993F118
commentFUNCTION 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.
descriptionrecommendedName: 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
geneNameEFTUD2
KIAA0031
SNRP116
identifierQ15029
isSequenceChangedFALSE
keyword3D-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
nameEFTUD2
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8998078] ENSEMBL:ENSG00000108883 EFTUD2 [Homo sapiens]
secondaryIdentifierU5S1_HUMAN
B4DK30
B4DMC0
D3DX58
K7EJ81
Q9BUR0
sequenceLength972
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)