DDX39B Gene Summary [Human]
This gene encodes a member of the DEAD box family of RNA-dependent ATPases that mediate ATP hydrolysis during pre-mRNA splicing. The encoded protein is an essential splicing factor required for association of U2 small nuclear ribonucleoprotein with pre-mRNA, and it also plays an important role in mRNA export from the nucleus to the cytoplasm. This gene belongs to a cluster of genes localized in the vicinity of the genes encoding tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. Mutations in this gene may be associated with rheumatoid arthritis. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on both chromosomes 6 and 11. Read-through transcription also occurs between this gene and the upstream ATP6V1G2 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2) gene. [provided by RefSeq, Feb 2011]
Details
| Type | Retained Intron |
| Official Symbol | DDX39B |
| Official Name | DExD-box helicase 39B [Source:HGNC Symbol;Acc:HGNC:13917] |
| Ensembl ID | ENSG00000198563 |
| Bio databases IDs | |
| Aliases | DExD-box helicase 39B, U2AF65-associated protein 56 |
| Synonyms | 0610030D10Rik, BAT1, Bat1a, D17H6S81E, D17H6S81E-1, D6S81E, D6S81Eh, DEAD box helicase 39b, Dead Box RNA Helicase p47, DExD-box helicase 39B, p47, UAP56 |
| 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 DDX39B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- U4 snRNA binding
- U6 snRNA binding
- DEAD/DEAH box helicase
- helicase superfamily c-terminal domain
- enzyme
- protein binding
- identical protein binding
- ATPase
- Helicase conserved C-terminal domain
- RNA helicase
- RNA dependent ATPase
- binding protein
- N-terminal helicase domain of the DEAD-box helicase superfamily
- ATP-dependent protein binding
- 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.
disease
- insomnia
- liver cancer
- lung cancer
- myositis
- gastric carcinoma
- gastric epithelial cancer
- colon cancer
role in cell
- expression in
- survival
- formation
- formation in
- accumulation in
- mitomycin C sensitivity
- assembly
- cisplatin sensitivity
- olaparib sensitivity
- 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
- Cytoplasm
- intranuclear region
- spliceosomes
- nucleoplasm
- nucleoli
- nuclear speckles
- nuclear matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DDX39B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mRNA export from nucleus
- RNA splicing
- RNA export from nucleus
- RNA secondary structure unwinding
- spliceosomal complex assembly
- nuclear mRNA splicing, via spliceosome
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- nuclear speck
- spliceosomal complex
- transcription export complex
- U6 snRNP
- nucleoplasm
- U4 snRNP
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- U6 snRNA binding
- ATP binding
- identical protein binding
- RNA binding
- protein binding
- RNA helicase activity
- RNA-dependent ATPase activity
- mRNA binding
- ATP-dependent protein binding
- U4 snRNA binding