• Gene id: 79665

Gene Summary

• Gene Symbol: DHX40   Gene   UCSC   Ensembl
• Aliases: ARG147, DDX40, PAD
• Gene name: DEAH-box helicase 40
• Alternate names: probable ATP-dependent RNA helicase DHX40, DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase), DEAH (Asp-Glu-Ala-His) box polypeptide 40, DEAH box protein 40,
• Gene location: 17q23.1 (11611788: 11453945)     Exons: 23     NC_000010.11
• Gene summary(Entrez): This gene encodes a member of the DExH/D box family of ATP-dependent RNA helicases that have an essential role in RNA metabolism. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 17.[provided by
• OMIM: 607570

Protein Summary

• Protein general information: Q8IX18  
  • Name: Probable ATP dependent RNA helicase DHX40 (EC 3.6.4.13) (DEAH box protein 40) (Protein PAD)
  • Length: 779  
  • Mass: 88560
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MSRFPAVAGRAPRRQEEGERSRDLQEERLSAVCIADREEKGCTSQEGGTTPTFPIQKQRKKIIQAVRDNSFLIVT
  GNTGSGKTTQLPKYLYEAGFSQHGMIGVTQPRKVAAISVAQRVAEEMKCTLGSKVGYQVRFDDCSSKETAIKYMT
  DGCLLKHILGDPNLTKFSVIILDEAHERTLTTDILFGLLKKLFQEKSPNRKEHLKVVVMSATMELAKLSAFFGNC
  PIFDIPGRLYPVREKFCNLIGPRDRENTAYIQAIVKVTMDIHLNEMAGDILVFLTGQFEIEKSCELLFQMAESVD
  YDYDVQDTTLDGLLILPCYGSMTTDQQRRIFLPPPPGIRKCVISTNISATSLTIDGIRYVVDGGFVKQLNHNPRL
  GLDILEVVPISKSEALQRSGRAGRTSSGKCFRIYSKDFWNQCMPDHVIPEIKRTSLTSVVLTLKCLAIHDVIRFP
  YLDPPNERLILEALKQLYQCDAIDRSGHVTRLGLSMVEFPLPPHLTCAVIKAASLDCEDLLLPIAAMLSVENVFI
  RPVDPEYQKEAEQRHRELAAKAGGFNDFATLAVIFEQCKSSGAPASWCQKHWIHWRCLFSAFRVEAQLRELIRKL
  KQQSDFPKETFEGPKHEVLRRCLCAGYFKNVARRSVGRTFCTMDGRGSPVHIHPSSALHEQETKLEWIIFHEVLV
  TTKVYARIVCPIRYEWVRDLLPKLHEFNAHDLSSVARREVREDARRRWTNKENVKQLKDGISKDVLKKMQRRNDD
  KSISDARARFLERKQQRTQDHSDTRKETG

• Structural information:
  • Protein Domains: (63..23-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (263..44-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  • Interpro: IPR011545  IPR002464  IPR011709  IPR007502  IPR014001   IPR001650  IPR027417  
  • Prosite: PS00690 PS51192 PS51194
  • STRING: ENSP00000251241
• Other Databases: GeneCards:  DHX40  Malacards:  DHX40

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005681	spliceosomal complex	IBA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IBA	biological process
GO:0003723	RNA binding	IBA	molecular function
GO:0004386	helicase activity	IEA	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:0000166	nucleotide binding	IEA	molecular function
GO:0003724	RNA helicase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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