BAT1

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

DDX39B
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1T5I, 1T6N, 1XTI, 1XTJ, 1XTK
Identifiers
Aliases	DDX39B, BAT1, D6S81E, UAP56, DEAD-box helicase 39B, DExD-box helicase 39B
External IDs	OMIM: 142560; MGI: 99240; HomoloGene: 48376; GeneCards: DDX39B; OMA:DDX39B - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6p21.33 Start 31,530,219 bp[1] End 31,542,448 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17 B1|17 18.6 cM Start 35,460,722 bp[2] End 35,472,683 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte ganglionic eminence anterior pituitary ventricular zone right uterine tube right hemisphere of cerebellum right lobe of thyroid gland left lobe of thyroid gland left ovary body of uterus Top expressed in primitive streak abdominal wall maxillary prominence mandibular prominence medullary collecting duct renal corpuscle vas deferens efferent ductule hair follicle ventricular zone More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding helicase activity protein-containing complex binding U4 snRNA binding ATP-dependent protein binding protein binding nucleic acid binding hydrolase activity ATP binding U6 snRNA binding ATP-dependent activity, acting on RNA ATPase activity identical protein binding RNA binding Cellular component cytoplasm transcription export complex nuclear matrix U6 snRNP spliceosomal complex U4 snRNP nucleus nucleoplasm nuclear speck nucleolus protein-containing complex Biological process mRNA splicing, via spliceosome mRNA transport negative regulation of DNA damage checkpoint mRNA processing viral mRNA export from host cell nucleus positive regulation of translation mRNA export from nucleus positive regulation of DNA-templated transcription, elongation spliceosomal complex assembly RNA secondary structure unwinding RNA splicing positive regulation of DNA biosynthetic process liver development positive regulation of cell growth involved in cardiac muscle cell development positive regulation of vascular associated smooth muscle cell proliferation mRNA 3'-end processing termination of RNA polymerase II transcription RNA export from nucleus transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7919 53817 Ensembl ENSG00000198563 ENSG00000225073 ENSG00000237889 ENSG00000229496 ENSG00000215425 ENSG00000235439 ENSG00000225859 ENSG00000230624 ENSMUSG00000019432 UniProt Q13838 Q9Z1N5 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 Mb Chr 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]