• Gene id: 22907

Gene Summary

• Gene Symbol: DHX30   Gene   UCSC   Ensembl
• Aliases: DDX30, NEDMIAL, RETCOR
• Gene name: DExH-box helicase 30
• Alternate names: ATP-dependent RNA helicase DHX30, DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30, DEAH (Asp-Glu-Ala-His) box helicase 30, DEAH (Asp-Glu-Ala-His) box polypeptide 30, DEAH box protein 30, DEAH-box helicase 30, putative ATP-dependent RNA helicase DHX30, retina co-,
• Gene location: 3p21.31 (47802908: 47850195)     Exons: 26     NC_000003.12
• 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: 616423

Protein Summary

• Protein general information: Q7L2E3  
  • Name: ATP dependent RNA helicase DHX30 (EC 3.6.4.13) (DEAH box protein 30)
  • Length: 1194  
  • Mass: 133938
• Sequence:

  MFSLDSFRKDRAQHRQRQCKLPPPRLPPMCVNPTPGGTISRASRDLLKEFPQPKNLLNSVIGRALGISHAKDKLV
  YVHTNGPKKKKVTLHIKWPKSVEVEGYGSKKIDAERQAAAAACQLFKGWGLLGPRNELFDAAKYRVLADRFGSPA
  DSWWRPEPTMPPTSWRQLNPESIRPGGPGGLSRSLGREEEEDEEEELEEGTIDVTDFLSMTQQDSHAPLRDSRGS
  SFEMTDDDSAIRALTQFPLPKNLLAKVIQIATSSSTAKNLMQFHTVGTKTKLSTLTLLWPCPMTFVAKGRRKAEA
  ENKAAALACKKLKSLGLVDRNNEPLTHAMYNLASLRELGETQRRPCTIQVPEPILRKIETFLNHYPVESSWIAPE
  LRLQSDDILPLGKDSGPLSDPITGKPYVPLLEAEEVRLSQSLLELWRRRGPVWQEAPQLPVDPHRDTILNAIEQH
  PVVVISGDTGCGKTTRIPQLLLERYVTEGRGARCNVIITQPRRISAVSVAQRVSHELGPSLRRNVGFQVRLESKP
  PSRGGALLFCTVGILLRKLQSNPSLEGVSHVIVDEVHERDVNTDFLLILLKGLQRLNPALRLVLMSATGDNERFS
  RYFGGCPVIKVPGFMYPVKEHYLEDILAKLGKHQYLHRHRHHESEDECALDLDLVTDLVLHIDARGEPGGILCFL
  PGWQEIKGVQQRLQEALGMHESKYLILPVHSNIPMMDQKAIFQQPPVGVRKIVLATNIAETSITINDIVHVVDSG
  LHKEERYDLKTKVSCLETVWVSRANVIQRRGRAGRCQSGFAYHLFPRSRLEKMVPFQVPEILRTPLENLVLQAKI
  HMPEKTAVEFLSKAVDSPNIKAVDEAVILLQEIGVLDQREYLTTLGQRLAHISTDPRLAKAIVLAAIFRCLHPLL
  VVVSCLTRDPFSSSLQNRAEVDKVKALLSHDSGSDHLAFVRAVAGWEEVLRWQDRSSRENYLEENLLYAPSLRFI
  HGLIKQFSENIYEAFLVGKPSDCTLASAQCNEYSEEEELVKGVLMAGLYPNLIQVRQGKVTRQGKFKPNSVTYRT
  KSGNILLHKSTINREATRLRSRWLTYFMAVKSNGSVFVRDSSQVHPLAVLLLTDGDVHIRDDGRRATISLSDSDL
  LRLEGDSRTVRLLKELRRALGRMVERSLRSELAALPPSVQEEHGQLLALLAELLRGPCGSFDVRKTADD

• Structural information:
  • Protein Domains: (53..12-)
    (/note="DRBM-)
    (444..61-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (654..82-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  • Interpro: IPR011545  IPR002464  IPR011709  IPR007502  IPR014001   IPR001650  IPR027417  
  • Prosite: PS00690 PS51192 PS51194
  • PDB: 2DB2
  • PDBsum: 2DB2
  • STRING: ENSP00000405620
• Other Databases: GeneCards:  DHX30  Malacards:  DHX30

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003723	RNA binding	IBA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0035770	ribonucleoprotein granule	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0003723	RNA binding	IDA	molecular function
GO:0003724	RNA helicase activity	IDA	molecular function
GO:1902775	mitochondrial large ribosomal subunit assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	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:0004386	helicase activity	IEA	molecular function
GO:0042645	mitochondrial nucleoid	IEA	cellular component
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0003724	RNA helicase activity	IEA	molecular function
GO:0003725	double-stranded RNA binding	IDA	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:0003724	RNA helicase activity	IEA	molecular function
GO:0007417	central nervous system development	IEA	biological process
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0042645	mitochondrial nucleoid	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0007417	central nervous system development	ISS	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			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq