DDX3Y Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
DDX3Y
Official Name
DEAD-box helicase 3 Y-linked [Source:HGNC Symbol;Acc:HGNC:2699]
Ensembl ID
ENSG00000067048
Bio databases IDs NCBI: 8653 Ensembl: ENSG00000067048
Aliases DEAD-box helicase 3 Y-linked
Synonyms 8030469F12RIK, D1PAS1-RS1, DBY, DEAD-box helicase 3 Y-linked
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DDX3Y often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • helicase superfamily c-terminal domain
  • DEAD/DEAH box helicase
  • Type III restriction enzyme, res subunit
  • N-terminal helicase domain of the DEAD-box helicase superfamily
  • enzyme
  • protein binding
  • DEAD-like helicases superfamily
  • Helicase conserved C-terminal domain
  • P-loop containing Nucleoside Triphosphate Hydrolases

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • autism
  • systemic lupus erythematosus
  • idiopathic inflammatory myopathy
regulated by
regulates
role in cell
  • assembly

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Nucleus
  • cytosol
  • stress granule

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human DDX3Y gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • negative regulation of gene expression
  • cell differentiation
  • gamete generation

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • P granule
  • membrane
  • cytosol
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • ATPase activity
  • ATP binding
  • DNA binding
  • RNA helicase activity
  • mRNA binding

Gene-Specific Assays for Results You Can Trust

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