• Gene id: 8653

Gene Summary

• Gene Symbol: DDX3Y   Gene   UCSC   Ensembl
• Aliases: DBY
• Gene name: DEAD-box helicase 3 Y-linked
• Alternate names: ATP-dependent RNA helicase DDX3Y, DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked, DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked, DEAD box protein 3, Y-chromosomal, DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome,
• Gene location: Yq11.221 (12903998: 12920477)     Exons: 16     NC_000024.10
• Gene summary(Entrez): The protein encoded by this gene is a member of the DEAD-box RNA helicase family, characterized by nine conserved motifs, included the conserved Asp-Glu-Ala-Asp (DEAD) motif. These motifs are thought to be involved in ATP binding, hydrolysis, RNA binding,
• OMIM: 400010

Protein Summary

• Protein general information: O15523  
  • Name: ATP dependent RNA helicase DDX3Y (EC 3.6.4.13) (DEAD box protein 3, Y chromosomal)
  • Length: 660  
  • Mass: 73154
  • Tissue specificity: Widely expressed at the mRNA level, with highest levels in testis (PubMed
• Sequence:

  MSHVVVKNDPELDQQLANLDLNSEKQSGGASTASKGRYIPPHLRNREASKGFHDKDSSGWSCSKDKDAYSSFGSR
  DSRGKPGYFSERGSGSRGRFDDRGRSDYDGIGNRERPGFGRFERSGHSRWCDKSVEDDWSKPLPPSERLEQELFS
  GGNTGINFEKYDDIPVEATGSNCPPHIENFSDIDMGEIIMGNIELTRYTRPTPVQKHAIPIIKGKRDLMACAQTG
  SGKTAAFLLPILSQIYTDGPGEALKAVKENGRYGRRKQYPISLVLAPTRELAVQIYEEARKFSYRSRVRPCVVYG
  GADIGQQIRDLERGCHLLVATPGRLVDMMERGKIGLDFCKYLVLDEADRMLDMGFEPQIRRIVEQDTMPPKGVRH
  TMMFSATFPKEIQMLARDFLDEYIFLAVGRVGSTSENITQKVVWVEDLDKRSFLLDILGATGSDSLTLVFVETKK
  GADSLEDFLYHEGYACTSIHGDRSQRDREEALHQFRSGKSPILVATAVAARGLDISNVRHVINFDLPSDIEEYVH
  RIGRTGRVGNLGLATSFFNEKNMNITKDLLDLLVEAKQEVPSWLENMAYEHHYKGGSRGRSKSNRFSGGFGARDY
  RQSSGSSSSGFGASRGSSSRSGGGGYGNSRGFGGGGYGGFYNSDGYGGNYNSQGVDWWGN

• Structural information:
  • Protein Domains: (209..40-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (412..57-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  • Interpro: IPR011545  IPR014001  IPR001650  IPR027417  IPR000629   IPR014014  
  • Prosite: PS00039 PS51192 PS51194 PS51195
• Other Databases: GeneCards:  DDX3Y  Malacards:  DDX3Y

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003677	DNA binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0004004	ATP-dependent RNA helicase activity	IBA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006413	translational initiation	IBA	biological process
GO:0007059	chromosome segregation	IBA	biological process
GO:0010468	regulation of gene expression	IBA	biological process
GO:0010501	RNA secondary structure unwinding	IBA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0036464	cytoplasmic ribonucleoprotein granule	IBA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0004004	ATP-dependent RNA helicase activity	IBA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006413	translational initiation	IBA	biological process
GO:0007059	chromosome segregation	IBA	biological process
GO:0010468	regulation of gene expression	IBA	biological process
GO:0010501	RNA secondary structure unwinding	IBA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0036464	cytoplasmic ribonucleoprotein granule	IBA	cellular component
GO:0004004	ATP-dependent RNA helicase activity	IBA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0006413	translational initiation	IBA	biological process
GO:0007059	chromosome segregation	IBA	biological process
GO:0010468	regulation of gene expression	IBA	biological process
GO:0010501	RNA secondary structure unwinding	IBA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0036464	cytoplasmic ribonucleoprotein granule	IBA	cellular component
GO:0043186	P granule	IBA	cellular component
GO:0030154	cell differentiation	IBA	biological process
GO:0007276	gamete generation	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0003724	RNA helicase activity	IBA	molecular function
GO:0003723	RNA binding	IBA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0003724	RNA helicase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Azoospermia	MIK: 18043844
Maturation arrest	MIK: 12009341
Cryptozoospermia	MIK: 10402374
Male factor infertility	MIK: 12525536
Non obstructive azoospermia	MIK: 12009341
Oligozoospermia	MIK: 18043844
Oligozoospermia	MIK: 12009341
Sertoli cell only syndrome (SCOS)	MIK: 12009341
Spermatogenesis defects	MIK: 11591417
Hypospermatogenesis	MIK: 12009341
Azoospermia	MIK: 18043844
Oligozoospermia	MIK: 18043844
Male infertility	MIK: 17296183
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17881721	Infertility		Chilean	75 (65 severe oligozoospermia or azoospermia, and 10 normozoospermic subjects)	Male infertility	RBMY1 DAZ and TSPY
17296183	Infertility		Taiwane se Han	839 (627 infertile men ( 224 had idiopathic mild to moderate oligospermia, 110 had idiopathic severe oligospermia, 23 had virtual azoospermia, 23 had virtual azoospermia), 212 fertile men)	Male infertility	FSH LH PRL T USP9Y SMCY RBM1 DAZ
16936303	Infertility			89 azoospermic (22 normal spermatogenesis, 33 hypospermatogenesis, 10 spermatocyte maturation arrest, 24 Sertoli cell-only syndrome)	Male infertility	USP9Y EIF1AY and PRY
14751364	Infertility			38 azoospermic	Male infertility	DAZ USP9Y RBMY1
12525536	Infertility	partial AZFb deletions and complete AZFb deletions		700 infertile (non-obstructive azoospermia and severe oligozoospermia)	Male infertility	AZFb region
12009341	Infertility	47,XXY karyotype, inv (11)(p12q23.3), Deltions in DBY, DFFRY, RBM1, DAZ, BPY2, CDY1	Taiwane se	302 (202 infertile patients (21 had 47,XXY karyotype, 1 inv (11)(p12q23.3), 60 had severe oligozoospermia, 120 had nonobstructive azoospermia, 28 had hypospermatogenesis, 24 had maturation arrest, 32 had the Sertoli cell–only syndrome), 100 controls)	Male infertility	DFFRY RBM1 DAZ BPY2 CDY1
11695273	Infertility	DFFRY deletion, DBY deletion	Taiwane se	303 (183 severe oligozoospermia or non-obstructive azoospermia, 120 fertile men)	Male infertility	AZFa gene
10581029	Infertility	4-bp deletion in a splice-donor site of USP9Y		576 infertile and 96 fertile men	Male infertility	USP9Y
10507722	Infertility	AZFaT1, DFFRY, and DBY deletion		3 (2 azoospermia, 1 oligozoospermia)	Male infertility	AZFaT1 DFFRY
10402374	Infertility	CDY, XKRY, eIF-1AY, BPY2		134 (22 azoospermic, 42 cryptozoospermic, 53 oligozoospermic, 4 normozoospermic, 13 asthenozoopsermic)	Male infertility	CDY XKRY eIF-1AY BPY2
18043844	Azoospermia, Oligospermia	AZFa, AZFb, AZFc deletions		30 infertile men (17 were azoospermic, 13 were severely oligospermic)	Male infertility	DBY sY84 RBM1 sY127 BPY2 sY254
17296183	Male infertility			839 (627 infertile men, 212 fertile men)	Male infertility	USP9Y DBY SMCY  RBM1 and DAZ
10767340	Male infertility				Male infertility	DBY
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)