• Gene id: 56919

Gene Summary

• Gene Symbol: DHX33   Gene   UCSC   Ensembl
• Aliases: DDX33
• Gene name: DEAH-box helicase 33
• Alternate names: ATP-dependent RNA helicase DHX33, DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33, DEAH (Asp-Glu-Ala-His) box polypeptide 33, DEAH box protein 33, putative ATP-dependent RNA helicase DHX33,
• Gene location: 17p13.2 (5469054: 5440916)     Exons: 12     NC_000017.11
• Gene summary(Entrez): This gene encodes a member of the DEAD box protein family. The DEAD box proteins are 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
• OMIM: 618491

Protein Summary

• Protein general information: Q9H6R0  
  • Name: ATP dependent RNA helicase DHX33 (EC 3.6.4.13) (DEAH box protein 33)
  • Length: 707  
  • Mass: 78874
• Sequence:

  MPEEAGFPPAKRFRPGSGPPSRAGSFPPGRQVVMLLTAGSGGRGGGGGRRQQPPLAQPSASPYPEAVELQRRSLP
  IFQARGQLLAQLRNLDNAVLIGETGSGKTTQIPQYLYEGGISRQGIIAVTQPRRVAAISLATRVSDEKRTELGKL
  VGYTVRFDDVTSEDTRIKFLTDGMLLREAISDSLLRKYSCVILDEAHERTIHTDVLFGVVKAAQKRRKELGKLPL
  KVIVMSATMDVDLFSQYFNGAPVLYLEGRQHPIQVFYTKQPQNDYLHAALVSVFQIHQEAPSSQDILVFLTGQEE
  IEAMSKTCRDIAKHLPDGCPAMLVLPLYASLPYAQQLRVFQGAPKGYRKVIISTNIAETSITITGIKYVVDTGMV
  KAKKYNPDSGLEVLAVQRVSKTQAWQRTGRAGREDSGICYRLYTEDEFEKFDKMTVPEIQRCNLASVMLQLLAMK
  VPNVLTFDFMSKPSPDHIQAAIAQLDLLGALEHKDDQLTLTPMGRKMAAFPLEPKFAKTILMSPKFHCTEEILTI
  VSLLSVDSVLHNPPSRREEVQGVRKKFISSEGDHMTLLNIYRTFKNLGGNKDWCKENFVNSKNMTLVAEVRAQLR
  DICLKMSMPIASSRGDVESVRRCLAHSLFMSTAELQPDGTYATTDTHQPVAIHPSSVLFHCKPACVVYTELLYTN
  KCYMRDLCVIDAQWLYEAAPEYFRRKLRTARN

• Structural information:
  • Protein Domains: (84..25-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (277..45-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  • Interpro: IPR011545  IPR002464  IPR011709  IPR007502  IPR014001   IPR001650  IPR027417  
  • Prosite: PS00690 PS51192 PS51194
  • STRING: ENSP00000225296
• Other Databases: GeneCards:  DHX33  Malacards:  DHX33

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005730	nucleolus	IBA	cellular component
GO:0045943	positive regulation of transcription by RNA polymerase I	IBA	biological process
GO:0003723	RNA binding	IBA	molecular function
GO:0003729	mRNA binding	IDA	molecular function
GO:0072559	NLRP3 inflammasome complex	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0000182	rDNA binding	IDA	molecular function
GO:0003725	double-stranded RNA binding	IDA	molecular function
GO:1900227	positive regulation of NLRP3 inflammasome complex assembly	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0045943	positive regulation of transcription by RNA polymerase I	IDA	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043023	ribosomal large subunit binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043410	positive regulation of MAPK cascade	ISS	biological process
GO:0032481	positive regulation of type I interferon production	ISS	biological process
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:0016787	hydrolase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0061702	inflammasome complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0003724	RNA helicase activity	IEA	molecular function
GO:0000182	rDNA binding	IEA	molecular function
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IEA	biological process
GO:0003725	double-stranded RNA binding	IEA	molecular function
GO:0006413	translational initiation	IEA	biological process
GO:0032481	positive regulation of type I interferon production	IEA	biological process
GO:0033613	activating transcription factor binding	IEA	molecular function
GO:0043410	positive regulation of MAPK cascade	IEA	biological process
GO:0045943	positive regulation of transcription by RNA polymerase I	IEA	biological process
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0061702	inflammasome complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04621	NOD-like receptor signaling pathway

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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