• Gene id: 55661

Gene Summary

• Gene Symbol: DDX27   Gene   UCSC   Ensembl
• Aliases: DRS1, Drs1p, HSPC259, PP3241, RHLP, dJ686N3.1
• Gene name: DEAD-box helicase 27
• Alternate names: probable ATP-dependent RNA helicase DDX27, DEAD (Asp-Glu-Ala-Asp) box polypeptide 27, DEAD box protein 27, DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27, Deficiency of ribosomal subunits protein 1 homolog, RNA helicase-like protein,
• Gene location: 20q13.13 (49219294: 49244076)     Exons: 22     NC_000020.11
• 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: 612205

Protein Summary

• Protein general information: Q96GQ7  
  • Name: Probable ATP dependent RNA helicase DDX27 (EC 3.6.4.13) (DEAD box protein 27)
  • Length: 796  
  • Mass: 89835
• Sequence:

  MVLAQRRRGGCEKLRAGPQAVLASGSGFCDNMLADLGLIGTIGEDDEVPVEPESDSGDEEEEGPIVLGRRQKALG
  KNRSADFNPDFVFTEKEGTYDGSWALADVMSQLKKKRAATTLDEKIEKVRKKRKTEDKEAKSGKLEKEKEAKEGS
  EPKEQEDLQENDEEGSEDEASETDYSSADENILTKADTLKVKDRKKKKKKGQEAGGFFEDASQYDENLSFQDMNL
  SRPLLKAITAMGFKQPTPIQKACIPVGLLGKDICACAATGTGKTAAFALPVLERLIYKPRQAPVTRVLVLVPTRE
  LGIQVHSVTRQLAQFCNITTCLAVGGLDVKSQEAALRAAPDILIATPGRLIDHLHNCPSFHLSSIEVLILDEADR
  MLDEYFEEQMKEIIRMCSHHRQTMLFSATMTDEVKDLASVSLKNPVRIFVNSNTDVAPFLRQEFIRIRPNREGDR
  EAIVAALLTRTFTDHVMLFTQTKKQAHRMHILLGLMGLQVGELHGNLSQTQRLEALRRFKDEQIDILVATDVAAR
  GLDIEGVKTVINFTMPNTIKHYVHRVGRTARAGRAGRSVSLVGEDERKMLKEIVKAAKAPVKARILPQDVILKFR
  DKIEKMEKDVYAVLQLEAEEKEMQQSEAQINTAKRLLEKGKEAVVQEPERSWFQTKEERKKEKIAKALQEFDLAL
  RGKKKRKKFMKDAKKKGEMTAEERSQFEILKAQMFAERLAKRNRRAKRARAMPEEEPVRGPAKKQKQGKKSVFDE
  ELTNTSKKALKQYRAGPSFEERKQLGLPHQRRGGNFKSKSRYKRRK

• Structural information:
  • Protein Domains: (249..42-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (457..60-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  • Interpro: IPR011545  IPR014001  IPR001650  IPR027417  IPR000629   IPR014014  
  • Prosite: PS00039 PS51192 PS51194 PS51195
  • STRING: ENSP00000483495
• Other Databases: GeneCards:  DDX27  Malacards:  DDX27

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003723	RNA binding	IBA	molecular function
GO:0003724	RNA helicase activity	IBA	molecular function
GO:0005730	nucleolus	IBA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005694	chromosome	IDA	cellular component
GO:0006364	rRNA processing	IMP	biological process
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:0042254	ribosome biogenesis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0006364	rRNA processing	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003724	RNA helicase activity	IEA	molecular function
GO:0005730	nucleolus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray