DDX3Y gene

DEAD-box helicase 3, Y-linked

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Probable ATP-dependent RNA helicase. May play a role in spermatogenesis.

From NCBI Gene:

  • Spermatogenic failure, Y-linked 2

From UniProt:

DDX3Y is located in the 'azoospermia factor a' (AZFa) region on chromosome Y which is deleted in Sertoli cell-only syndrome. This is an infertility disorder in which no germ cells are visible in seminiferous tubules leading to azoospermia.

Cytogenetic Location: Yq11.221, which is the long (q) arm of the Y chromosome at position 11.221

Molecular Location: base pairs 12,903,999 to 12,920,478 on the Y chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Yq11.221, which is the long (q) arm of the Y chromosome at position 11.221