• Gene id: 51163

Gene Summary

• Gene Symbol: DBR1   Gene   UCSC   Ensembl
• Gene name: debranching RNA lariats 1
• Alternate names: lariat debranching enzyme, RNA lariat debranching enzyme, debranching enzyme homolog 1,
• Gene location: 3q22.3 (138174920: 138160987)     Exons: 8     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene is an RNA lariat debranching enzyme that hydrolyzes 2'-5' prime branched phosphodiester bonds. The encoded protein specifically targets the bonds at the branch point of excised lariat intron RNA, converting them to linear
• OMIM: 607024

Protein Summary

• Protein general information: Q9UK59  
  • Name: Lariat debranching enzyme (EC 3.1. . )
  • Length: 544  
  • Mass: 61555
• Sequence:

  MRVAVAGCCHGELDKIYETLALAERRGPGPVDLLLCCGDFQAVRNEADLRCMAVPPKYRHMQTFYRYYSGEKKAP
  VLTLFIGGNHEASNHLQELPYGGWVAPNIYYLGLAGVVKYRGVRIGGISGIFKSHDYRKGHFECPPYNSSTIRSI
  YHVRNIEVYKLKQLKQPIDIFLSHDWPRSIYHYGNKKQLLKTKSFFRQEVENNTLGSPAASELLEHLKPTYWFSA
  HLHVKFAALMQHQAKDKGQTARATKFLALDKCLPHRDFLQILEIEHDPSAPDYLEYDIEWLTILRATDDLINVTG
  RLWNMPENNGLHARWDYSATEEGMKEVLEKLNHDLKVPCNFSVTAACYDPSKPQTQMQLIHRINPQTTEFCAQLG
  IIDINVRLQKSKEEHHVCGEYEEQDDVESNDSGEDQSEYNTDTSALSSINPDEIMLDEEEDEDSIVSAHSGMNTP
  SVEPSDQASEFSASFSDVRILPGSMIVSSDDTVDSTIDREGKPGGTVESGNGEDLTKVPLKRLSDEHEPEQRKKI
  KRRNQAIYAAVDDDDDDAA

• Structural information:
  • Interpro: IPR004843  IPR007708  IPR041816  
  • CDD: cd00844
  • STRING: ENSP00000260803
• Other Databases: GeneCards:  DBR1  Malacards:  DBR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000398	mRNA splicing, via spliceosome	IBA	biological process
GO:0008419	RNA lariat debranching enzyme activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016788	hydrolase activity, acting on ester bonds	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0008419	RNA lariat debranching enzyme activity	IEA	molecular function
GO:0000398	mRNA splicing, via spliceosome	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA	biological process
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA	biological process
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0008419	RNA lariat debranching enzyme activity	IMP	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0000375	RNA splicing, via transesterification reactions	IMP	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq