• Gene id: 10212

Gene Summary

• Gene Symbol: DDX39A   Gene   UCSC   Ensembl
• Aliases: BAT1, BAT1L, DDX39, DDXL, URH49
• Gene name: DExD-box helicase 39A
• Alternate names: ATP-dependent RNA helicase DDX39A, DEAD (Asp-Glu-Ala-Asp) box polypeptide 39, DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A, DEAD box protein 39, DEAD-box helicase 39A, DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39, UAP56-related helicase, 49 kDa, nuclear RNA hel,
• Gene location: 19p13.12 (14419382: 14408797)     Exons: 4     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the DEAD box protein family. These proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD) and are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA sec

Protein Summary

• Protein general information: O00148  
  • Name: ATP dependent RNA helicase DDX39A (EC 3.6.4.13) (DEAD box protein 39) (Nuclear RNA helicase URH49)
  • Length: 427  
  • Mass: 49130
  • Tissue specificity: Detected in testis, and at lower levels in brain, kidney, lung, thymus, spleen and salivary gland. {ECO
• Sequence:

  MAEQDVENDLLDYDEEEEPQAPQESTPAPPKKDIKGSYVSIHSSGFRDFLLKPELLRAIVDCGFEHPSEVQHECI
  PQAILGMDVLCQAKSGMGKTAVFVLATLQQIEPVNGQVTVLVMCHTRELAFQISKEYERFSKYMPSVKVSVFFGG
  LSIKKDEEVLKKNCPHVVVGTPGRILALVRNRSFSLKNVKHFVLDECDKMLEQLDMRRDVQEIFRLTPHEKQCMM
  FSATLSKDIRPVCRKFMQDPMEVFVDDETKLTLHGLQQYYVKLKDSEKNRKLFDLLDVLEFNQVIIFVKSVQRCM
  ALAQLLVEQNFPAIAIHRGMAQEERLSRYQQFKDFQRRILVATNLFGRGMDIERVNIVFNYDMPEDSDTYLHRVA
  RAGRFGTKGLAITFVSDENDAKILNDVQDRFEVNVAELPEEIDISTYIEQSR

• Structural information:
  • Protein Domains: (75..24-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (260..42-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  • Interpro: IPR011545  IPR014001  IPR001650  IPR027417  IPR014014  
  • Prosite: PS51192 PS51194 PS51195
  • STRING: ENSP00000242776
• Other Databases: GeneCards:  DDX39A  Malacards:  DDX39A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000398	mRNA splicing, via spliceosome	IBA	biological process
GO:0003723	RNA binding	IBA	molecular function
GO:0006406	mRNA export from nucleus	IBA	biological process
GO:0003724	RNA helicase activity	IBA	molecular function
GO:0005737	cytoplasm	IDA	colocalizes with
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0008380	RNA splicing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0003724	RNA helicase activity	IEA	molecular function
GO:0016887	ATPase activity	EXP	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006405	RNA export from nucleus	TAS	biological process
GO:0031124	mRNA 3'-end processing	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical 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: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:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0000398	mRNA splicing, via spliceosome	IGI	biological process
GO:0016020	membrane	HDA	cellular component
GO:0006406	mRNA export from nucleus	IGI	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male factor infertility	MIK: 29961538
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R