BAT1

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

Spliceosome RNA helicase BAT1 is an enzyme that in humans is encoded by the BAT1 gene.[5][6][7]

PDBOrtholog search: PDBe RCSB
AliasesDDX39B, BAT1, D6S81E, UAP56, DEAD-box helicase 39B, DExD-box helicase 39B
Quick facts DDX39B, Available structures ...
DDX39B
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesDDX39B, BAT1, D6S81E, UAP56, DEAD-box helicase 39B, DExD-box helicase 39B
External IDsOMIM: 142560; MGI: 99240; HomoloGene: 48376; GeneCards: DDX39B; OMA:DDX39B - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004640
NM_080598

NM_001252457
NM_019693

RefSeq (protein)

NP_004631
NP_542165

NP_001239386
NP_062667

Location (UCSC)Chr 6: 31.53 – 31.54 MbChr 17: 35.46 – 35.47 Mb
PubMed search[3][4]
Wikidata
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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.[7]

References

Further reading

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