• Gene id: 11269

Gene Summary

• Gene Symbol: DDX19B   Gene   UCSC   Ensembl
• Aliases: DBP5, DDX19, RNAh
• Gene name: DEAD-box helicase 19B
• Alternate names: ATP-dependent RNA helicase DDX19B, ATP-dependent RNA helicase DDX19, DEAD (Asp-Glu-Ala-As) box polypeptide 19B, DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B, DEAD box protein 19B, DEAD-box RNA helicase DEAD5, DEAD-box protein 5, DEAD/H (Asp-Glu-Ala-Asp/His) box po,
• Gene location: 16q22.1 (70289766: 70335304)     Exons: 14     NC_000016.10
• Gene summary(Entrez): DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and m
• OMIM: 605812

Protein Summary

• Protein general information: Q9UMR2  
  • Name: ATP dependent RNA helicase DDX19B (EC 3.6.4.13) (DEAD box RNA helicase DEAD5) (DEAD box protein 19B)
  • Length: 479  
  • Mass: 53927
• Sequence:

  MATDSWALAVDEQEAAAESLSNLHLKEEKIKPDTNGAVVKTNANAEKTDEEEKEDRAAQSLLNKLIRSNLVDNTN
  QVEVLQRDPNSPLYSVKSFEELRLKPQLLQGVYAMGFNRPSKIQENALPLMLAEPPQNLIAQSQSGTGKTAAFVL
  AMLSQVEPANKYPQCLCLSPTYELALQTGKVIEQMGKFYPELKLAYAVRGNKLERGQKISEQIVIGTPGTVLDWC
  SKLKFIDPKKIKVFVLDEADVMIATQGHQDQSIRIQRMLPRNCQMLLFSATFEDSVWKFAQKVVPDPNVIKLKRE
  EETLDTIKQYYVLCSSRDEKFQALCNLYGAITIAQAMIFCHTRKTASWLAAELSKEGHQVALLSGEMMVEQRAAV
  IERFREGKEKVLVTTNVCARGIDVEQVSVVINFDLPVDKDGNPDNETYLHRIGRTGRFGKRGLAVNMVDSKHSMN
  ILNRIQEHFNKKIERLDTDDLDEIEKIAN

• Structural information:
  • Protein Domains: (125..29-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (306..47-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  • Interpro: IPR011545  IPR014001  IPR001650  IPR027417  IPR014014  
  • Prosite: PS51192 PS51194 PS51195
  • PDB: 3EWS 3FHC 3FHT 3FMO 3FMP 3G0H 6B4I 6B4J 6B4K
  • PDBsum: 3EWS 3FHC 3FHT 3FMO 3FMP 3G0H 6B4I 6B4J 6B4K
  • DIP: 48486
  • STRING: ENSP00000288071
• Other Databases: GeneCards:  DDX19B  Malacards:  DDX19B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016973	poly(A)+ mRNA export from nucleus	IBA	biological process
GO:0010494	cytoplasmic stress granule	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0003724	RNA helicase activity	IBA	molecular function
GO:0003723	RNA binding	IBA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0003723	RNA binding	TAS	molecular function
GO:0004386	helicase activity	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0005643	nuclear pore	TAS	cellular component
GO:0003724	RNA helicase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray