DDX3Y

DDX3Y
Identifiers
Aliases	DDX3Y , DBY, DEAD-box helicase 3, Y-linked, DEAD-box helicase 3 Y-linked
External IDs	OMIM: 400010 MGI: 1349406 HomoloGene: 55839 GeneCards: DDX3Y
Gene location (Human) Chr. Y chromosome (human) [1] Band Yq11.221 Start 12,904,108 bp [1] End 12,920,478 bp [1]
Gene location (Mouse) Chr. Y chromosome (mouse) [2] Band Y|Ypter Start 1,260,771 bp [2] End 1,286,629 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm endothelial cell right lung caput epididymis seminal vesicula corpus epididymis cancellous bone rectum prostate cerebellar vermis Top expressed in median eminence dorsomedial hypothalamic nucleus mammillary body habenula arcuate nucleus subcutaneous adipose tissue left lung lobe retinal pigment epithelium dorsal tegmental nucleus lateral hypothalamus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding nucleotide binding hydrolase activity ATP binding helicase activity RNA binding nucleic acid binding Cellular component cytoplasmic ribonucleoprotein granule membrane nucleus cytoplasm cytosol nucleolus Biological process translational initiation regulation of gene expression RNA secondary structure unwinding chromosome segregation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8653 26900 Ensembl ENSG00000067048 ENSMUSG00000069045 UniProt O15523 Q62095 RefSeq (mRNA) NM_001122665 NM_001302552 NM_004660 NM_001324195 NM_012008 RefSeq (protein) NP_001116137 NP_001289481 NP_001311124 NP_004651 NP_036138 Location (UCSC) Chr Y: 12.9 – 12.92 Mb Chr Y: 1.26 – 1.29 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

ATP-dependent RNA helicase DDX3Y is an enzyme that in humans is encoded by the DDX3Y gene. ^{[5] [6]}

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. This gene encodes a DEAD box protein, and it has a homolog on the X chromosome (DDX3X). The gene mutation causes male infertility, Sertoli cell-only syndrome or severe hypospermatogenesis, suggesting that this gene plays a key role in the spermatogenic process. Alternative splicing of this gene generates 2 transcripts, which differ only in the length of the 3' UTR. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000067048 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000069045 - 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. Lahn BT, Page DC (Nov 1997). "Functional coherence of the human Y chromosome". Science. 278 (5338): 675–80. Bibcode:1997Sci...278..675L. doi:10.1126/science.278.5338.675. PMID   9381176.
6. "Entrez Gene: DDX3Y DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked".

Further reading

• Foresta C, Ferlin A, Moro E (2000). "Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility". Hum. Mol. Genet. 9 (8): 1161–9. doi: 10.1093/hmg/9.8.1161 . PMID   10767340.
• Shen P, Wang F, Underhill PA, et al. (2000). "Population genetic implications from sequence variation in four Y chromosome genes". Proc. Natl. Acad. Sci. U.S.A. 97 (13): 7354–9. Bibcode:2000PNAS...97.7354S. doi: 10.1073/pnas.97.13.7354 . PMC   16549 . PMID   10861003.
• Session DR, Lee GS, Wolgemuth DJ (2001). "Characterization of D1Pas1, a mouse autosomal homologue of the human AZFa region DBY, as a nuclear protein in spermatogenic cells". Fertil. Steril. 76 (4): 804–11. doi: 10.1016/S0015-0282(01)01996-3 . PMID   11591417.
• Kim YS, Lee SG, Park SH, Song K (2002). "Gene structure of the human DDX3 and chromosome mapping of its related sequences". Mol. Cells. 12 (2): 209–14. PMID   11710523.
• Vogt MH, van den Muijsenberg JW, Goulmy E, et al. (2002). "The DBY gene codes for an HLA-DQ5-restricted human male-specific minor histocompatibility antigen involved in graft-versus-host disease". Blood. 99 (8): 3027–32. doi: 10.1182/blood.V99.8.3027 . PMID   11929796.
• 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.
• Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, et al. (2003). "The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes". Nature. 423 (6942): 825–37. Bibcode:2003Natur.423..825S. doi: 10.1038/nature01722 . PMID   12815422.
• Zorn E, Miklos DB, Floyd BH, et al. (2004). "Minor histocompatibility antigen DBY elicits a coordinated B and T cell response after allogeneic stem cell transplantation". J. Exp. Med. 199 (8): 1133–42. doi:10.1084/jem.20031560. PMC   1361263 . PMID   15096539.
• Brill LM, Salomon AR, Ficarro SB, et al. (2004). "Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry". Anal. Chem. 76 (10): 2763–72. doi:10.1021/ac035352d. PMID   15144186.
• Ditton HJ, Zimmer J, Kamp C, et al. (2005). "The AZFa gene DBY (DDX3Y) is widely transcribed but the protein is limited to the male germ cells by translation control". Hum. Mol. Genet. 13 (19): 2333–41. doi: 10.1093/hmg/ddh240 . PMID   15294876.
• Sekiguchi T, Iida H, Fukumura J, Nishimoto T (2004). "Human DDX3Y, the Y-encoded isoform of RNA helicase DDX3, rescues a hamster temperature-sensitive ET24 mutant cell line with a DDX3X mutation". Exp. Cell Res. 300 (1): 213–22. doi:10.1016/j.yexcr.2004.07.005. PMID   15383328.
• 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.
• Ficarro SB, Salomon AR, Brill LM, et al. (2005). "Automated immobilized metal affinity chromatography/nano-liquid chromatography/electrospray ionization mass spectrometry platform for profiling protein phosphorylation sites". Rapid Commun. Mass Spectrom. 19 (1): 57–71. Bibcode:2005RCMS...19...57F. doi:10.1002/rcm.1746. PMID   15570572.
• Rush J, Moritz A, Lee KA, et al. (2005). "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells". Nat. Biotechnol. 23 (1): 94–101. doi:10.1038/nbt1046. PMID   15592455. S2CID   7200157.
• Pope SN, Lee IR (2005). "Yeast two-hybrid identification of prostatic proteins interacting with human sex hormone-binding globulin". J. Steroid Biochem. Mol. Biol. 94 (1–3): 203–8. doi:10.1016/j.jsbmb.2005.01.007. PMID   15862967. S2CID   9746088.