• Gene id: 1653

Gene Summary

• Gene Symbol: DDX1   Gene   UCSC   Ensembl
• Aliases: DBP-RB, UKVH5d
• Gene name: DEAD-box helicase 1
• Alternate names: ATP-dependent RNA helicase DDX1, DEAD (Asp-Glu-Ala-Asp) box helicase 1, DEAD (Asp-Glu-Ala-Asp) box polypeptide 1, DEAD box polypeptide 1, DEAD box protein 1, DEAD box protein retinoblastoma, DEAD box-1, DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1, DEAD/H-box h,
• Gene location: 2p24.3 (15591867: 15631100)     Exons: 26     NC_000002.12
• 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: 601257

Protein Summary

• Protein general information: Q92499  
  • Name: ATP dependent RNA helicase DDX1 (EC 3.6.4.13) (DEAD box protein 1) (DEAD box protein retinoblastoma) (DBP RB)
  • Length: 740  
  • Mass: 82432
  • Tissue specificity: Highest levels of transcription in 2 retinoblastoma cell lines and in tissues of neuroectodermal origin including the retina, brain, and spinal cord. {ECO
• Sequence:

  MAAFSEMGVMPEIAQAVEEMDWLLPTDIQAESIPLILGGGDVLMAAETGSGKTGAFSIPVIQIVYETLKDQQEGK
  KGKTTIKTGASVLNKWQMNPYDRGSAFAIGSDGLCCQSREVKEWHGCRATKGLMKGKHYYEVSCHDQGLCRVGWS
  TMQASLDLGTDKFGFGFGGTGKKSHNKQFDNYGEEFTMHDTIGCYLDIDKGHVKFSKNGKDLGLAFEIPPHMKNQ
  ALFPACVLKNAELKFNFGEEEFKFPPKDGFVALSKAPDGYIVKSQHSGNAQVTQTKFLPNAPKALIVEPSRELAE
  QTLNNIKQFKKYIDNPKLRELLIIGGVAARDQLSVLENGVDIVVGTPGRLDDLVSTGKLNLSQVRFLVLDEADGL
  LSQGYSDFINRMHNQIPQVTSDGKRLQVIVCSATLHSFDVKKLSEKIMHFPTWVDLKGEDSVPDTVHHVVVPVNP
  KTDRLWERLGKSHIRTDDVHAKDNTRPGANSPEMWSEAIKILKGEYAVRAIKEHKMDQAIIFCRTKIDCDNLEQY
  FIQQGGGPDKKGHQFSCVCLHGDRKPHERKQNLERFKKGDVRFLICTDVAARGIDIHGVPYVINVTLPDEKQNYV
  HRIGRVGRAERMGLAISLVATEKEKVWYHVCSSRGKGCYNTRLKEDGGCTIWYNEMQLLSEIEEHLNCTISQVEP
  DIKVPVDEFDGKVTYGQKRAAGGGSYKGHVDILAPTVQELAALEKEAQTSFLHLGYLPNQLFRTF

• Structural information:
  • Protein Domains: (2..42-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (70..24-)
    (/note="B30.2/SPRY-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00548-)
    (493..68-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255-)
  • Interpro: IPR001870  IPR013320  IPR011545  IPR014001  IPR001650   IPR027417  IPR014014  IPR003877  
  • Prosite: PS50188 PS51192 PS51194 PS51195
  • PDB: 4XW3
  • PDBsum: 4XW3
  • DIP: 38163
  • STRING: ENSP00000370745
• Other Databases: GeneCards:  DDX1  Malacards:  DDX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003724	RNA helicase activity	IBA	molecular function
GO:0003723	RNA binding	IBA	molecular function
GO:0072669	tRNA-splicing ligase complex	IDA	cellular component
GO:0072669	tRNA-splicing ligase complex	IDA	cellular component
GO:0071920	cleavage body	IDA	cellular component
GO:0032508	DNA duplex unwinding	IDA	biological process
GO:0010494	cytoplasmic stress granule	IDA	cellular component
GO:0004386	helicase activity	IDA	molecular function
GO:0004518	nuclease activity	IDA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0033677	DNA/RNA helicase activity	IDA	molecular function
GO:0008143	poly(A) binding	IDA	molecular function
GO:0006302	double-strand break repair	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0003712	transcription coregulator activity	IDA	molecular function
GO:0006388	tRNA splicing, via endonucleolytic cleavage and ligation	IMP	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	ISS	cellular component
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:0003676	nucleic acid binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0008033	tRNA processing	IEA	biological process
GO:0004386	helicase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0051607	defense response to virus	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0004527	exonuclease activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003724	RNA helicase activity	TAS	molecular function
GO:0003724	RNA helicase activity	IEA	molecular function
GO:1990904	ribonucleoprotein complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:1903608	protein localization to cytoplasmic stress granule	IMP	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006388	tRNA splicing, via endonucleolytic cleavage and ligation	TAS	biological process
GO:0002735	positive regulation of myeloid dendritic cell cytokine production	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0009615	response to virus	IEA	biological process
GO:0010494	cytoplasmic stress granule	IEA	cellular component
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IEA	biological process
GO:0043330	response to exogenous dsRNA	IEA	biological process
GO:0003725	double-stranded RNA binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:1903506	regulation of nucleic acid-templated transcription	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IDA	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0007275	multicellular organism development	IEP	biological process
GO:0016020	membrane	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0000245	spliceosomal complex assembly	NAS	biological process
GO:0006446	regulation of translational initiation	NAS	biological process

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			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
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