DDX46 Gene Summary [Human]

This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the 17S U2 snRNP complex; it plays an important role in pre-mRNA splicing. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2014]

Details

Type
Protein Coding
Official Symbol
DDX46
Official Name
DEAD-box helicase 46 [Source:HGNC Symbol;Acc:HGNC:18681]
Ensembl ID
ENSG00000145833
Bio databases IDs NCBI: 9879 Ensembl: ENSG00000145833
Aliases DEAD-box helicase 46
Synonyms 2200005K02Rik, 8430438J23RIK, AI957095, DEAD-box helicase 46, KIAA0801, LOC245957, mKIAA0801, Prp5, PRPF5
Species
Human, Homo sapiens
OrthologiesMouseRat

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 DDX46 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • K homology (KH) RNA-binding domain, type I
  • helicase superfamily c-terminal domain
  • DEAD/DEAH box helicase
  • N-terminal helicase domain of the DEAD-box helicase superfamily
  • enzyme
  • protein binding
  • DEAD-like helicases superfamily
  • Helicase conserved C-terminal domain
  • RNA helicase
  • 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
  • COVID-19
  • colon cancer
  • lung cancer
  • non-small cell lung cancer
  • liver cancer
  • Parkinson disease
  • Alzheimer disease
regulated by
role in cell
  • splicing by

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nuclear fraction
  • fibrillar center
  • spliceosomes
  • nucleoplasm
  • interchromatin granule clusters
  • nuclear speckles
  • Cajal bodies

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human DDX46 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • nuclear mRNA splicing, via spliceosome

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • nuclear speck
  • Cajal body
  • spliceosomal complex
  • U2-type spliceosomal complex
  • U2 snRNP
  • fibrillar center
  • nucleoplasm

Molecular Function

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

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.