UniProt:Q15029 EFTUD2

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.
crossReference
databaseName UniProt
dbId 71882
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
displayName UniProt:Q15029 EFTUD2
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:9926675] Weiser, Joel, 2024-11-03
moleculeType Protein
name
  • EFTUD2
otherIdentifier
  • 11716057_a_at
  • 11716058_a_at
  • 11716059_x_at
  • 11740353_a_at
  • 11740354_a_at
  • 11758740_at
  • 16845742
  • 222397_PM_at
  • 222397_at
  • 222398_PM_s_at
  • 222398_s_at
  • 3759358
  • 3759359
  • 3759360
  • 3759361
  • 3759362
  • 3759364
  • 3759366
  • 3759367
  • 3759368
  • 3759369
  • 3759370
  • 3759371
  • 3759372
  • 3759373
  • 3759374
  • 3759375
  • 3759376
  • 3759377
  • 3759378
  • 3759379
  • 3759380
  • 3759381
  • 3759382
  • 3759384
  • 3759385
  • 3759386
  • 3759389
  • 3759390
  • 3759392
  • 3759393
  • 3759394
  • 3759395
  • 3759396
  • 3759397
  • 3759398
  • 3759399
  • 3759400
  • 3759401
  • 3759402
  • 3759403
  • 3759404
  • 3759405
  • 3759406
  • 3759407
  • 3759408
  • 3759409
  • 8016099
  • 9343
  • A_23_P55190
  • D21163_at
  • GE57110
  • GO:0000166
  • GO:0000398
  • GO:0003723
  • GO:0003924
  • GO:0005515
  • GO:0005525
  • GO:0005634
  • GO:0005654
  • GO:0005681
  • GO:0005829
  • GO:0006397
  • GO:0008380
  • GO:0015030
  • GO:0016020
  • GO:0016071
  • GO:0016607
  • GO:0016787
  • GO:0030623
  • GO:0042220
  • GO:0046540
  • GO:0071005
  • GO:0071007
  • GO:0071013
  • GO:0071466
  • HMNXSV003035382
  • Hs.151787.0.S3_3p_at
  • ILMN_1738819
  • PH_hs_0031865
  • PH_hs_0038658
  • TC17001586.hg
  • g12803112_3p_a_at
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • U5S1_HUMAN
  • B4DK30
  • B4DMC0
  • D3DX58
  • K7EJ81
  • Q9BUR0
sequenceLength 972
species [Species:48887] Homo sapiens
stId uniprot:Q15029
url http://purl.uniprot.org/uniprot/Q15029

Referrals

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