DDX3Y - DEAD-box helicase 3 Y-linked Gene

Also Known as DBY

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 8653

About DDX3Y

Cytogenetic location: Yq11.221 Genomic coordinates (GRCh38): Y:12,903,999-12,920,478 (from NCBI)

This gene has 9 transcripts (splice variants), 221 orthologues, 38 paralogues and is associated with 1 phenotype. Broad expression in bone marrow (RPKM 32.5), testis (RPKM 29.4) and 19 other tissues.

Summary

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, and in the formation of intramolecular interactions. This protein shares high similarity to DDX3X, on the X chromosome, but a deletion of this gene is not complemented by DDX3X. Mutations in this gene result in male infertility, a reduction in germ cell numbers, and can result in Sertoli-cell only sydrome. Pseudogenes sharing similarity to both this gene and the DDX3X paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

DDX3Y Products (4)

mRNA	Protein	Name
NM_001122665.3	NP_001116137.1	ATP-dependent RNA helicase DDX3Y isoform 1
NM_001302552.3	NP_001289481.1	ATP-dependent RNA helicase DDX3Y isoform 2
NM_001324195.2	NP_001311124.1	ATP-dependent RNA helicase DDX3Y isoform 3
NM_004660.5	NP_004651.2	ATP-dependent RNA helicase DDX3Y isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DDX3Y Protein Structure

DEAD

Helicase_C

0
200
400
600
660 a.a.

Protein Preferred Names	Protein Names
ATP-dependent RNA helicase DDX3Y	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked

関連疾患

Diseases	Alias
Spermatogenic Failure, Y-Linked, 2	SPGFY2 Spermatogenic Failure, Nonobstructive, Y-Linked Y-Linked Spermatogenic Failure 2 Azoospermia, Nonobstructive, Y-Linked Oligozoospermia, Nonobstructive, Y-Linked Oligospermia, Nonobstructive, Y-Linked Spermatogenic Arrest, Y-Linked Nonobstructive Y-Linked Spermatogenic Failure Spermatogenic Failure Y-Linked 2 Azoospermia Non-Obstructive Y-Linked Non-Obstructive Azoospermia And Infertility Oligospermia Non-Obstructive Y-Linked Oligozoospermia Non-Obstructive Y-Linked Spermatogenic Arrest Y-Linked Spermatogenic Failure Nonobstructive Y-Linked
Partial Deletion Of Y	Partial Chromosome Y Deletion Partial Deletion Of Y Chromosome Short Arm Partial Deletion Of Chromosome Y Partial Deletion Of The Long Arm Of The Y Chromosome Y-Chromosome Microdeletions Male Sterility Due To Chromosome Y Deletion Y Chromosome Deletions
Male Infertility	Infertility, Male Infertility Male Male Sterility Absolute Infertility
Infertility
Spermatogenic Failure	Azoospermia Spgf Spermatogenic Failure, Susceptibility To Absent Sperm Aspermatogenesis Infertility Due To Azoospermia Hypospermatogenesis Azoospermatism

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS03647	DDX3Y Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21549	Ddx3y Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28067	Ddx3y Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Mus musculus	DDX3Y	MGD	MGI:1349406
Macaca mulatta	DDX3Y	VGNC	VGNC:101429
Rattus norvegicus	DDX3Y	RGD	RGD:2314437
Others	DDX3Y	NCBI