SpermatogenesisOnline 1.0
 

Tag Content
SG ID
SG00000422 
UniProt Accession
Theoretical PI
7.23  
Molecular Weight
73154 Da  
Genbank Nucleotide ID
Genbank Protein ID
Gene Name
DDX3Y 
Gene Synonyms/Alias
DBY 
Protein Name
ATP-dependent RNA helicase DDX3Y 
Protein Synonyms/Alias
EC=3.6.4.13 DEAD box protein 3, Y-chromosomal; 
Organism
Homo sapiens (Human) 
NCBI Taxonomy ID
9606 
Chromosome Location
chr:Y;15016019-15032390;1
View in Ensembl genome browser  
Function in Stage
Function in Cell Type
Description
The detection of microdeletions of AZF region is significant from the diagnostic and prognostic 
The information of related literatures
1. R. Behulova, L. Strhakova, I. Boronova, A. Cibulkova, M. Konecny, L. Danisovic and V. Repiska (2011) DNA analysis of Y chromosomal AZF region in Slovak population with fertility disorders. Bratisl Lek Listy 112(4): 183-7. 

Abstract
BACKGROUND PMID: [21585124] 

2. C. Foresta, A. Ferlin and E. Moro (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. 

Abstract
Three distinct regions, designated AZFa, b and c from proximal to distal Yq, are required for normal spermato-genesis in humans. Deletions involving AZFa (deletion interval 5C/D) seem to occur less frequently in infertile men and to be associated with a more severe testicular phenotype, with almost complete absence of germ cells. AZFa contains three genes, named USP9Y, DBY and UTY, and presents high homology with the mouse Delta Sxr (b) interval, deletion of which causes a severe spermatogenic impairment. However, the specific role of these genes in human spermatogenesis is still unknown and it is not clear which of them is responsible for the AZFa phenotype. Here we describe a complete sequence map of the AZFa region, the genomic structure of AZFa genes and their deletion analysis in a large number of infertile men characterized by well-defined spermatogenic alterations. Both USP9Y and DBY may cause severe testiculopathies, but DBY appears to be the major AZFa candidate. DBY is frequently deleted in infertile patients and its absence produces severe spermatogenic damage leading to a significant reduction of germ cells or even to their complete absence. Expression analysis of AZFa genes and their X-homologues revealed ubiquitous expression for all of them except DBY; this gene produces a long transcript which is ubiquitously expressed in addition to a shorter transcript which is only expressed in the testis, suggesting a specific role for DBY in the spermatogenic process. This hypothesis is further supported by the high similarity of DBY to other DEAD box proteins belonging to the PL10 subclass. PMID: [10767340] 

3. S. E. Kleiman, L. Yogev, R. Hauser, A. Botchan, B. B. Maymon, G. Paz and H. Yavetz (2007) Expression profile of AZF genes in testicular biopsies of azoospermic men. Hum Reprod 22(1): 151-8. 

Abstract
BACKGROUND PMID: [16936303] 

4. H. J. Ditton, J. Zimmer, C. Kamp, E. Rajpert-De Meyts and P. H. Vogt (2004) 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. 

Abstract
We explored the function of the human DEAD-box Y RNA helicase DBY (DDX3Y) gene located in the (AZFa) region on the human Y chromosome (Yq11.21). Deletion of this Y interval is known to be a major cause for the occurrence of a severe testicular pathology, the Sertoli-cell-only (SCO) syndrome. DBY has a structural homologue on the short arm of the X chromosome DBX (DDX3X) (Xp11.4). We found widespread transcription of both genes in each tissue analyzed, although predominantly in testis tissue. However, translation of DBY was detected only in the male germ line, whereas DBX protein was expressed in all tissues analyzed. In testis tissue sections, DBY protein was found predominantly in spermatogonia, whereas DBX protein was expressed after meiosis in spermatids. We conclude that although both RNA helicases are structurally very similar, they have diverged functionally to fulfill different roles in the RNA metabolism of human spermatogenesis, and that deletion of the DBY gene is the most likely cause of the severe testicular pathology observed in men with AZFa deletions. PMID: [15294876] 

5. M. C. Lardone, D. A. Parodi, R. Valdevenito, M. Ebensperger, A. Piottante, M. Madariaga, R. Smith, R. Pommer, N. Zambrano and A. Castro (2007) Quantification of DDX3Y, RBMY1, DAZ and TSPY mRNAs in testes of patients with severe impairment of spermatogenesis. Mol Hum Reprod 13(10): 705-12. 

Abstract
Y chromosome microdeletion is the most important genetic cause of impairment of spermatogenesis. Nevertheless, a significant proportion of patients with spermatogenic failure do not have this condition. This study investigated the expression level of AZF genes, DDX3Y (DBY), RBMY1, DAZ and TSPY in testicular tissues of 42 subjects with impaired spermatogenesis compared with 33 with normal spermatogenesis. Histopathological evaluation was performed in all subjects and tissues were classified according to Johnsen Score. Transcript amounts were determined by quantitative-competitive RT-PCR. Patients with complete Sertoli cell-only syndrome (SCOS) did not exhibit RBMY1, DAZ and TSPY gene expression, however, we detected very low expression of DDX3Y transcript. Tissue samples with focal SCOS showed significantly decreased expression of all genes (P < 0.001). Maturation arrest and hypospermatogenesis tissues expressed significantly low levels of DDX3Y testicular transcript (P < 0.001), while the mRNA levels of the other genes were similar to that in tissues from the normal spermatogenesis group. Negative or diminished gene expression of DDX3Y, RBMY1, DAZ and TSPY in tissues samples with SCOS or focal SCOS reflects the absence or the lower number of germ cells, respectively. The finding that the testicular transcript of DDX3Y is significantly decreased in patients with severe spermatogenenic failure, especially in those presenting maturation arrest, suggests an important role of DDX3Y during spermatogenesis. PMID: [17881721] 

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Figures for illustrating the function of this protein/gene
Ref: H. J. Ditton, J. Zimmer, C. Kamp, E. Rajpert-De Meyts and P. H. Vogt (2004) 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. PMID: [15294876]
Function
Probable ATP-dependent RNA helicase. May play a role inspermatogenesis. 
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Subcellular Location
Cytoplasm. Nucleus. Note=Shuttles betweenthe nucleus and the cytoplasm in an XPO1-dependent manner. 
Tissue Specificity
Testis-specific. Expressed predominantly inspermatogonia. 
Gene Ontology
GO IDGO termEvidence
GO:0005737 C:cytoplasm IDA:HPA.
GO:0005634 C:nucleus IEA:UniProtKB-SubCell.
GO:0005524 F:ATP binding IEA:UniProtKB-KW.
GO:0008026 F:ATP-dependent helicase activity IEA:InterPro.
GO:0003677 F:DNA binding IEA:UniProtKB-KW.
GO:0003723 F:RNA binding IEA:UniProtKB-KW.
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Interpro
IPR011545;    DNA/RNA_helicase_DEAD/DEAH_N.
IPR014001;    Helicase_ATP-bd.
IPR001650;    Helicase_C.
IPR000629;    RNA-helicase_DEAD-box_CS.
IPR014014;    RNA_helicase_DEAD_Q_motif.
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Pfam
PF00270;    DEAD;    1.
PF00271;    Helicase_C;    1.
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SMART
SM00487;    DEXDc;    1.
SM00490;    HELICc;    1.
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PROSITE
PS00039;    DEAD_ATP_HELICASE;    1.
PS51192;    HELICASE_ATP_BIND_1;    1.
PS51194;    HELICASE_CTER;    1.
PS51195;    Q_MOTIF;    1.
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PRINTS
Created Date
18-Oct-2012 
Record Type
Experiment identified 
Protein sequence Annotation
CHAIN         1    660       ATP-dependent RNA helicase DDX3Y.
                             /FTId=PRO_0000055011.
DOMAIN      209    401       Helicase ATP-binding.
DOMAIN      412    573       Helicase C-terminal.
NP_BIND     198    205       ATP (By similarity).
NP_BIND     222    229       ATP (By similarity).
MOTIF       178    206       Q motif.
MOTIF       345    348       DEAD box.
MOD_RES      69     69       Phosphotyrosine.
MOD_RES     321    321       Phosphothreonine.
MOD_RES     592    592       Phosphoserine.
CONFLICT     46     46       R -> K (in Ref. 1; AAC51832/AAC51831).
CONFLICT    219    219       M -> V (in Ref. 1; AAC51832/AAC51831).
CONFLICT    628    628       N -> D (in Ref. 1; AAC51832/AAC51831).
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Nucleotide Sequence
Length: 2319 bp   Go to nucleotide: FASTA
Protein Sequence
Length: 660 bp   Go to amino acid: FASTA
The verified Protein-Protein interaction information
Other Protein-Protein interaction resources
String database  
View Microarray data
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