DDX39B
Sign in to saveAlso known as BAT1, D6S81E, UAP56, DEAD-box helicase 39B, DExD-box helicase 39B
Spliceosome RNA helicase BAT1 is an enzyme that in humans is encoded by the BAT1 gene.
Gene data
DDX39B- Name
- DExD-box helicase 39B
- Type
- protein-coding
- Aliases
- BAT1, D6S81E, UAP56
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].
via MyGene.info
Wikidata facts
- Image
- Protein BAT1 PDB 1t5i.png
Show 5 more facts
- HomoloGene ID
- 48376
- exact match
- identifiers.org/ncbigene/7919
- genomic start
- 31497996
- genomic end
- 31510225
- cytogenetic location
- 6p21.33
Sources (4)
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Spliceosome RNA helicase BAT1 is an enzyme that in humans is encoded by the BAT1 gene.
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 also plays an important role in mRNA export from the nucleus to the cytoplasm. A cluster of genes, BAT1-BAT5, is localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. Mutations in this gene may be associated with rheumatoid arthritis. Alternatively spliced transcript variants encoding the same protein have been described.