BAT1

DDX39B
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases DDX39B, BAT1, D6S81E, UAP56, DEAD-box helicase 39B
External IDs MGI: 99240 HomoloGene: 48376 GeneCards: DDX39B
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

7919

53817

Ensembl

n/a

ENSMUSG00000019432

UniProt

Q13838

Q9Z1N5

RefSeq (mRNA)

NM_004640
NM_080598

NM_001252457
NM_019693

RefSeq (protein)

NP_004631.1
NP_542165.1

NP_001239386.1
NP_062667.1

Location (UCSC) Chr 6: 31.53 – 31.54 Mb Chr 17: 35.24 – 35.25 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Spliceosome RNA helicase BAT1 is an enzyme that in humans is encoded by the BAT1 gene.[3][4][5]

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.[5]

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. Peelman LJ, Chardon P, Nunes M, Renard C, Geffrotin C, Vaiman M, Van Zeveren A, Coppieters W, van de Weghe A, Bouquet Y, et al. (Aug 1995). "The BAT1 gene in the MHC encodes an evolutionarily conserved putative nuclear RNA helicase of the DEAD family". Genomics. 26 (2): 210–8. doi:10.1016/0888-7543(95)80203-X. PMID 7601445.
  4. Spies T, Bresnahan M, Strominger JL (Dec 1989). "Human major histocompatibility complex contains a minimum of 19 genes between the complement cluster and HLA-B". Proc Natl Acad Sci U S A. 86 (22): 8955–8. doi:10.1073/pnas.86.22.8955. PMC 298409Freely accessible. PMID 2813433.
  5. 1 2 "Entrez Gene: BAT1 HLA-B associated transcript 1".

Further reading


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