• Gene id: 9416

Gene Summary

• Gene Symbol: DDX23   Gene   UCSC   Ensembl
• Aliases: PRPF28, SNRNP100, U5-100K, U5-100KD, prp28
• Gene name: DEAD-box helicase 23
• Alternate names: probable ATP-dependent RNA helicase DDX23, 100 kDa U5 snRNP-specific protein, DEAD (Asp-Glu-Ala-Asp) box polypeptide 23, DEAD box protein 23, PRP28 homolog, yeast, PRP28p homolog, U5 snRNP 100 kD protein,
• Gene location: 12q13.12 (33025119: 32883871)     Exons: 19     NC_000009.12
• Gene summary(Entrez): This gene encodes a member of the DEAD box protein family. 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 second
• OMIM: 612172

Protein Summary

• Protein general information: Q9BUQ8  
  • Name: Probable ATP dependent RNA helicase DDX23 (EC 3.6.4.13) (100 kDa U5 snRNP specific protein) (DEAD box protein 23) (PRP28 homolog) (U5 100kD)
  • Length: 820  
  • Mass: 95583
• Sequence:

  MAGELADKKDRDASPSKEERKRSRTPDRERDRDRDRKSSPSKDRKRHRSRDRRRGGSRSRSRSRSKSAERERRHK
  ERERDKERDRNKKDRDRDKDGHRRDKDRKRSSLSPGRGKDFKSRKDRDSKKDEEDEHGDKKPKAQPLSLEELLAK
  KKAEEEAEAKPKFLSKAEREAEALKRRQQEVEERQRMLEEERKKRKQFQDLGRKMLEDPQERERRERRERMERET
  NGNEDEEGRQKIREEKDKSKELHAIKERYLGGIKKRRRTRHLNDRKFVFEWDASEDTSIDYNPLYKERHQVQLLG
  RGFIAGIDLKQQKREQSRFYGDLMEKRRTLEEKEQEEARLRKLRKKEAKQRWDDRHWSQKKLDEMTDRDWRIFRE
  DYSITTKGGKIPNPIRSWKDSSLPPHILEVIDKCGYKEPTPIQRQAIPIGLQNRDIIGVAETGSGKTAAFLIPLL
  VWITTLPKIDRIEESDQGPYAIILAPTRELAQQIEEETIKFGKPLGIRTVAVIGGISREDQGFRLRMGCEIVIAT
  PGRLIDVLENRYLVLSRCTYVVLDEADRMIDMGFEPDVQKILEHMPVSNQKPDTDEAEDPEKMLANFESGKHKYR
  QTVMFTATMPPAVERLARSYLRRPAVVYIGSAGKPHERVEQKVFLMSESEKRKKLLAILEQGFDPPIIIFVNQKK
  GCDVLAKSLEKMGYNACTLHGGKGQEQREFALSNLKAGAKDILVATDVAGRGIDIQDVSMVVNYDMAKNIEDYIH
  RIGRTGRAGKSGVAITFLTKEDSAVFYELKQAILESPVSSCPPELANHPDAQHKPGTILTKKRREETIFA

• Structural information:
  • Protein Domains: (422..62-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (651..79-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  • Interpro: IPR011545  IPR014001  IPR001650  IPR027417  IPR000629   IPR014014  
  • Prosite: PS00039 PS51192 PS51194 PS51195
  • PDB: 3JCR 4NHO 6AH0 6QW6 6QX9
  • PDBsum: 3JCR 4NHO 6AH0 6QW6 6QX9
  • DIP: 34974
  • STRING: ENSP00000310723
• Other Databases: GeneCards:  DDX23  Malacards:  DDX23

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004386	helicase activity	IDA	NOT|molecular function
GO:0005682	U5 snRNP	IDA	cellular component
GO:0000354	cis assembly of pre-catalytic spliceosome	IC	biological process
GO:0003723	RNA binding	IBA	molecular function
GO:0000398	mRNA splicing, via spliceosome	IBA	biological process
GO:0071013	catalytic step 2 spliceosome	IBA	cellular component
GO:0071013	catalytic step 2 spliceosome	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IC	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:0016787	hydrolase activity	IEA	molecular function
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0003724	RNA helicase activity	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0008380	RNA splicing	TAS	biological process
GO:0046540	U4/U6 x U5 tri-snRNP complex	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0062176	R-loop disassembly	IDA	biological process
GO:0000785	chromatin	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0000375	RNA splicing, via transesterification reactions	TAS	biological process
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

Associated diseases	References
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)