1. Gene
  2. DDX3Y - DEAD-box helicase 3 Y-linked Gene

DDX3Y - DEAD-box helicase 3 Y-linked Gene

Homo sapiens

Also known as DBY

Gene ID: 8653 | Gene type: protein coding

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

DDX3Y Protein Structure

DEAD

DEAD: DEAD/DEAH box helicase (202 - 389)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (458 - 534)

  • 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

Related Diseases

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

Orthologs Information

Species Symbol Source ID
Mus musculus DDX3Y MGD MGI:1349406
Macaca mulatta DDX3Y VGNC VGNC:101429
Rattus norvegicus DDX3Y RGD RGD:2314437