DHX30 Gene Summary [Human]
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 DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The family member encoded by this gene is a mitochondrial nucleoid protein that associates with mitochondrial DNA. It has also been identified as a component of a transcriptional repressor complex that functions in retinal development, and it is required to optimize the function of the zinc-finger antiviral protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]
Details
| Type | Retained Intron |
| Official Symbol | DHX30 |
| Official Name | DExH-box helicase 30 [Source:HGNC Symbol;Acc:HGNC:16716] |
| Ensembl ID | ENSG00000132153 |
| Bio databases IDs | |
| Aliases | DExH-box helicase 30 |
| Synonyms | 2810477H02Rik, C130058C04Rik, DDX30, DExH-box helicase 30, DXH30, HELG, NEDMIAL, RETCOR |
| Species | Human, Homo sapiens |
| Orthologies |
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 DHX30 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 associated domain (HA2)
- AAA ATPase domain
- Oligonucleotide/oligosaccharide-binding (OB)-fold
- DEAD/DEAH box helicase
- helicase superfamily c-terminal domain
- chromatin binding
- enzyme
- protein binding
- Helicase conserved C-terminal domain
- RNA helicase
- RNA binding
- Helicase associated domain (HA2) Add an annotation
- double-stranded RNA binding
- N-terminal helicase domain of the DEAD-box helicase superfamily
- DEAD-like helicases superfamily
- 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.
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
- polyribosome fractions
- ribonucleoprotein granule
- Cytoplasm
- ribosome
- Mitochondria
- cytosol
- mitochondrial matrix
- mitochondrial nucleoids
- nuclear scaffolds
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DHX30 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- central nervous system development
- DNA duplex unwinding
Cellular Component
Where in the cell the gene product is active
- ribonucleoprotein granule
- nucleus
- cytoplasm
- mitochondrion
- cytosol
- intracellular
- mitochondrial nucleoid
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- DNA helicase activity
- protein binding
- RNA binding
- RNA helicase activity
- double-stranded RNA binding
- G-quadruplex RNA binding
- chromatin binding