UniProt:Q9BRD0 BUD13

chain
  • chain:1-619
checksum 98B7732B4AA158FF
comment
  • FUNCTION Involved in pre-mRNA splicing as component of the activated spliceosome. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs.SUBUNIT Part of the activated spliceosome B/catalytic step 1 spliceosome, one of the forms of the spliceosome which has a well-formed active site but still cannot catalyze the branching reaction and is composed of at least 52 proteins, the U2, U5 and U6 snRNAs and the pre-mRNA. Component of the minor spliceosome, which splices U12-type introns (PubMed:33509932).INTERACTION The disease is caused by variants affecting the gene represented in this entry. A nonsense substitution NM_032725.4:c.688C>T, predicted to result in variant p.Arg230Ter, was found in 5 patients. This variant protein as such could not be detected in patients cells, possibly due to nonsense-mediated mRNA decay. However, this variant also affects BUD13 splicing and results in the production of a stable, disease-associated isoform p.Arg230_Arg284del. Expression of p.Arg230_Arg284del inversely correlates with disease severity and life expectancy. Patients with high p.Arg230_Arg284del levels have a milder disease course and survive into adulthood.SIMILARITY Belongs to the CWC26 family.
created [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
crossReference
databaseName UniProt
dbId 220426
description
  • recommendedName: BUD13 homolog
displayName UniProt:Q9BRD0 BUD13
geneName
  • BUD13
identifier Q9BRD0
isSequenceChanged false
keyword
  • 3D-structure
  • Alternative splicing
  • Coiled coil
  • Disease variant
  • Isopeptide bond
  • mRNA processing
  • mRNA splicing
  • Nucleus
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Spliceosome
  • Ubl conjugation
modified [InstanceEdit:9983091] Weiser, Joel, 2026-02-20
moleculeType Protein
name
  • BUD13
otherIdentifier
  • 11726066_a_at
  • 16744667
  • 224504_PM_s_at
  • 224504_s_at
  • 3392841
  • 3392842
  • 3392843
  • 3392844
  • 3392845
  • 3392847
  • 3392849
  • 3392850
  • 3392852
  • 3392853
  • 3392854
  • 3392855
  • 3392856
  • 3392857
  • 3392858
  • 3392859
  • 3392861
  • 3392862
  • 60157_at
  • 7951826
  • 84811
  • A_23_P52826
  • GE83495
  • GO:0000398
  • GO:0003723
  • GO:0005515
  • GO:0005634
  • GO:0005654
  • GO:0005681
  • GO:0005684
  • GO:0005686
  • GO:0006397
  • GO:0008380
  • GO:0016071
  • GO:0065003
  • GO:0070274
  • GO:0071005
  • GO:1903241
  • HMNXSV003052950
  • ILMN_1749210
  • PH_hs_0003008
  • TC11002322.hg
  • g13623490_3p_s_at
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • BUD13_HUMAN
  • A8K0S0
  • Q96LS7
sequenceLength 619
species [Species:48887] Homo sapiens
stId uniprot:Q9BRD0
url http://purl.uniprot.org/uniprot/Q9BRD0
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