DDX3Y

Protein-coding gene in the species Homo sapiens
DDX3Y
Identifiers
AliasesDDX3Y, DBY, DEAD-box helicase 3, Y-linked, DEAD-box helicase 3 Y-linked
External IDsOMIM: 400010; MGI: 1349406; HomoloGene: 55839; GeneCards: DDX3Y; OMA:DDX3Y - orthologs
Gene location (Human)
Y chromosome (human)
Chr.Y chromosome (human)[1]
Y chromosome (human)
Genomic location for DDX3Y
Genomic location for DDX3Y
BandYq11.221Start12,904,108 bp[1]
End12,920,478 bp[1]
Gene location (Mouse)
Y chromosome (mouse)
Chr.Y chromosome (mouse)[2]
Y chromosome (mouse)
Genomic location for DDX3Y
Genomic location for DDX3Y
BandY|YpterStart1,260,771 bp[2]
End1,286,629 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • sperm

  • endothelial cell

  • tail of epididymis

  • skin of thigh

  • right testis

  • right lung

  • left testis

  • caput epididymis

  • seminal vesicula

  • corpus epididymis
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

  • lobe of cerebellum
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
SpeciesHumanMouse
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 MbChr Y: 1.26 – 1.29 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000067048 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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. doi:10.1016/S1016-8478(23)17085-3. 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.
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  • 2i4i: Crystal Structure of human DEAD-box RNA helicase DDX3X
    2i4i: Crystal Structure of human DEAD-box RNA helicase DDX3X


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