DDX23

Probable ATP-dependent RNA helicase DDX23 is an enzyme that in humans is encoded by the DDX23 gene.^[5][6][7]

DDX23
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 4NHO, 3JCR
Identifiers
Aliases	DDX23, PRPF28, SNRNP100, U5-100K, U5-100KD, prp28, DEAD-box helicase 23
External IDs	OMIM: 612172; MGI: 1921601; HomoloGene: 3542; GeneCards: DDX23; OMA:DDX23 - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12q13.12 Start 48,829,756 bp[1] End 48,852,842 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15|15 F1 Start 98,543,015 bp[2] End 98,560,775 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon sural nerve granulocyte ventricular zone right uterine tube body of stomach ganglionic eminence rectum right lobe of thyroid gland transverse colon Top expressed in neural layer of retina ventricular zone muscle of thigh yolk sac tail of embryo esophagus superior frontal gyrus genital tubercle dentate gyrus of hippocampal formation granule cell lip More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding helicase activity protein binding nucleic acid binding hydrolase activity ATP binding RNA binding Cellular component catalytic step 2 spliceosome U5 snRNP nucleoplasm spliceosomal complex extracellular exosome nucleus nucleolus cytoplasm Biological process mRNA splicing, via spliceosome RNA splicing, via transesterification reactions mRNA processing RNA secondary structure unwinding RNA splicing cis assembly of pre-catalytic spliceosome Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9416 74351 Ensembl ENSG00000174243 ENSMUSG00000003360 UniProt Q9BUQ8 n/a RefSeq (mRNA) NM_004818 NM_001080981 RefSeq (protein) NP_004809 n/a Location (UCSC) Chr 12: 48.83 – 48.85 Mb Chr 15: 98.54 – 98.56 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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 secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the U5 snRNP complex; it may facilitate conformational changes in the spliceosome during nuclear pre-mRNA splicing. An alternatively spliced transcript variant has been found for this gene, but its biological validity has not been determined.^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000174243 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000003360 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Teigelkamp S, Mundt C, Achsel T, Will CL, Luhrmann R (Jan 1998). "The human U5 snRNP-specific 100-kD protein is an RS domain-containing, putative RNA helicase with significant homology to the yeast splicing factor Prp28p". RNA. 3 (11): 1313–26. PMC 1369570. PMID 9409622.
6. Laggerbauer B, Achsel T, Luhrmann R (May 1998). "The human U5-200kD DEXH-box protein unwinds U4/U6 RNA duplices in vitro". Proc Natl Acad Sci U S A. 95 (8): 4188–92. Bibcode:1998PNAS...95.4188L. doi:10.1073/pnas.95.8.4188. PMC 22463. PMID 9539711.
7. "Entrez Gene: DDX23 DEAD (Asp-Glu-Ala-Asp) box polypeptide 23".

Further reading

• Achsel T, Ahrens K, Brahms H, et al. (1998). "The human U5-220kD protein (hPrp8) forms a stable RNA-free complex with several U5-specific proteins, including an RNA unwindase, a homologue of ribosomal elongation factor EF-2, and a novel WD-40 protein". Mol. Cell. Biol. 18 (11): 6756–66. doi:10.1128/mcb.18.11.6756. PMC 109259. PMID 9774689.
• Jurica MS, Licklider LJ, Gygi SR, et al. (2002). "Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis". RNA. 8 (4): 426–39. doi:10.1017/S1355838202021088. PMC 1370266. PMID 11991638.
• Irobi J, Nelis E, Verhoeven K, et al. (2002). "Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3". J. Peripher. Nerv. Syst. 7 (2): 87–95. doi:10.1046/j.1529-8027.2002.02014.x. PMID 12090300. S2CID 8453412.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Andersen JS, Lam YW, Leung AK, et al. (2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. Bibcode:2005Natur.433...77A. doi:10.1038/nature03207. PMID 15635413. S2CID 4344740.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
• Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.