DDX39

DDX39A
Identifiers
Aliases	DDX39A , BAT1, BAT1L, DDX39, DDXL, URH49, DEAD-box helicase 39A, DExD-box helicase 39A
External IDs	MGI: 1915528; HomoloGene: 68487; GeneCards: DDX39A; OMA:DDX39A - orthologs
Gene location (Human) Chr. Chromosome 19 (human) [1] Band 19p13.12 Start 14,408,798 bp [1] End 14,419,383 bp [1]
Gene location (Mouse) Chr. Chromosome 8 (mouse) [2] Band 8|8 C2 Start 84,441,806 bp [2] End 84,453,521 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left testis right testis granulocyte ventricular zone spleen lymph node mucosa of transverse colon appendix ganglionic eminence upper lobe of left lung Top expressed in primitive streak Paneth cell endothelial cell of lymphatic vessel hair follicle abdominal wall otic placode medullary collecting duct migratory enteric neural crest cell epiblast condyle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function helicase activity nucleotide binding protein binding nucleic acid binding hydrolase activity ATP binding ATPase activity identical protein binding RNA binding Cellular component membrane spliceosomal complex cytoplasm nucleus nucleoplasm nuclear speck nucleolus Biological process RNA splicing mRNA splicing, via spliceosome mRNA processing mRNA export from nucleus cellular response to DNA damage stimulus RNA secondary structure unwinding regulation of gene expression RNA export from nucleus termination of RNA polymerase II transcription mRNA 3'-end processing Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10212 68278 Ensembl ENSG00000123136 ENSMUSG00000005481 UniProt O00148 Q8VDW0 RefSeq (mRNA) NM_001204057 NM_005804 NM_138998 NM_197982 NM_001363116 NM_001363117 RefSeq (protein) NP_005795 NP_932099 NP_001350045 NP_001350046 Location (UCSC) Chr 19: 14.41 – 14.42 Mb Chr 8: 84.44 – 84.45 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

ATP-dependent RNA helicase DDX39 is an enzyme that in humans is encoded by the DDX39 gene. ^{[5] [6]}

This gene encodes a member of the DEAD box protein family. These proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD) and 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 the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. ^[6]

Clinical Significance

Disorders of this enzyme are caused by a missense of the gene and can result in developmental delay, hypotonia, short stature, and variable neurological presentation ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000123136 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000005481 – 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. Peelman LJ, Chardon P, Nunes M, Renard C, Geffrotin C, Vaiman M, Van Zeveren A, Coppieters W, van de Weghe A, Bouquet Y, et al. (Aug 1995). "The BAT1 gene in the MHC encodes an evolutionarily conserved putative nuclear RNA helicase of the DEAD family". Genomics. 26 (2): 210–8. doi:10.1016/0888-7543(95)80203-X. PMID   7601445.
6. "Entrez Gene: DDX39 DEAD (Asp-Glu-Ala-Asp) box polypeptide 39".
7. Treat K, Jangam S, Yamamoto S, White K, Kanca O, Christensen C, Lynch S, Baptista J, Tsang MH, Jay K, Chung BH, Yuen LY, Chui MM, Bellen H, Wangler M (2022-03-01). "eP410: De novo missense variants in DDX39B cause a novel syndrome characterized by neurodevelopmental delay, short stature and congenital hypotonia". Genetics in Medicine. 2022 ACMG Annual Clinical Genetics Meeting. 24 (3, Supplement): S257 –S258. doi:10.1016/j.gim.2022.01.445. ISSN   1098-3600.

Further reading

• Andersen JS, Lyon CE, Fox AH, et al. (2002). "Directed proteomic analysis of the human nucleolus". Curr. Biol. 12 (1): 1–11. Bibcode:2002CBio...12....1A. doi: 10.1016/S0960-9822(01)00650-9 . PMID   11790298. S2CID   14132033.
• Strässer K, Masuda S, Mason P, et al. (2002). "TREX is a conserved complex coupling transcription with messenger RNA export". Nature. 417 (6886): 304–8. Bibcode:2002Natur.417..304S. doi:10.1038/nature746. PMID   11979277. S2CID   1112194.
• 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.
• Lehner B, Semple JI, Brown SE, et al. (2004). "Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region". Genomics. 83 (1): 153–67. doi:10.1016/S0888-7543(03)00235-0. PMID   14667819.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Pryor A, Tung L, Yang Z, et al. (2004). "Growth-regulated expression and G0-specific turnover of the mRNA that encodes URH49, a mammalian DExH/D box protein that is highly related to the mRNA export protein UAP56". Nucleic Acids Res. 32 (6): 1857–65. doi:10.1093/nar/gkh347. PMC   390356 . PMID   15047853.
• Leaw CL, Ren EC, Choong ML (2004). "Hcc-1 is a novel component of the nuclear matrix with growth inhibitory function". Cell. Mol. Life Sci. 61 (17): 2264–73. doi: 10.1007/s00018-004-4205-x . PMC   11138947 . PMID   15338056. S2CID   19729441.
• 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.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• Kapadia F, Pryor A, Chang TH, Johnson LF (2007). "Nuclear localization of poly(A)+ mRNA following siRNA reduction of expression of the mammalian RNA helicases UAP56 and URH49". Gene. 384: 37–44. doi:10.1016/j.gene.2006.07.010. PMID   16949217.
• Sugiura T, Sakurai K, Nagano Y (2007). "Intracellular characterization of DDX39, a novel growth-associated RNA helicase". Exp. Cell Res. 313 (4): 782–90. doi:10.1016/j.yexcr.2006.11.014. PMID   17196963.
• Quaresma AJ, Sievert R, Nickerson JA (2013). "Regulation of mRNA export by the PI3 kinase/AKT signal transduction pathway". Mol. Biol. Cell. 24 (8): 1208–21. doi:10.1091/mbc.E12-06-0450. PMC   3623641 . PMID   23427269.

External links

• DDX39A human gene location in the UCSC Genome Browser .
• DDX39A human gene details in the UCSC Genome Browser .