BAT1

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
View/Edit Human View/Edit Mouse

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

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

1. ENSG00000225073, ENSG00000237889, ENSG00000229496, ENSG00000215425, ENSG00000235439, ENSG00000225859, ENSG00000230624 GRCh38: Ensembl release 89: ENSG00000198563, ENSG00000225073, ENSG00000237889, ENSG00000229496, ENSG00000215425, ENSG00000235439, ENSG00000225859, ENSG00000230624 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000019432 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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. Bibcode:1989PNAS...86.8955S. doi: 10.1073/pnas.86.22.8955 . PMC   298409 . PMID   2813433.
7. "Entrez Gene: BAT1 HLA-B associated transcript 1".

External links

• Human DDX39B genome location and DDX39B gene details page in the UCSC Genome Browser .
• PDBe-KB provides an overview of all the structure information available in the PDB for Human Spliceosome RNA helicase DDX39B (BAT1)

Further reading

• Spies T, Blanck G, Bresnahan M, et al. (1989). "A new cluster of genes within the human major histocompatibility complex". Science. 243 (4888): 214–7. Bibcode:1989Sci...243..214S. doi:10.1126/science.2911734. PMID   2911734.
• Cross SH, Charlton JA, Nan X, Bird AP (1994). "Purification of CpG islands using a methylated DNA binding column". Nat. Genet. 6 (3): 236–44. doi:10.1038/ng0394-236. PMID   8012384. S2CID   12847618.
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.
• Fleckner J, Zhang M, Valcárcel J, Green MR (1997). "U2AF65 recruits a novel human DEAD box protein required for the U2 snRNP-branchpoint interaction". Genes Dev. 11 (14): 1864–72. doi: 10.1101/gad.11.14.1864 . PMID   9242493.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID   9373149.
• Allcock RJ, Price P, Gaudieri S, et al. (1999). "Characterisation of the human central MHC gene, BAT1: genomic structure and expression". Exp. Clin. Immunogenet. 16 (2): 98–106. doi:10.1159/000019100. PMID   10343160. S2CID   22003689.
• Ota M, Katsuyama Y, Kimura A, et al. (2001). "A second susceptibility gene for developing rheumatoid arthritis in the human MHC is localized within a 70-kb interval telomeric of the TNF genes in the HLA class III region". Genomics. 71 (3): 263–70. doi:10.1006/geno.2000.6371. PMID   11170743.
• Allcock RJ, Williams JH, Price P (2001). "The central MHC gene, BAT1, may encode a protein that down-regulates cytokine production". Genes Cells. 6 (5): 487–94. doi:10.1046/j.1365-2443.2001.00435.x. PMID   11380625. S2CID   10605522.
• Luo ML, Zhou Z, Magni K, et al. (2001). "Pre-mRNA splicing and mRNA export linked by direct interactions between UAP56 and Aly". Nature. 413 (6856): 644–7. Bibcode:2001Natur.413..644L. doi:10.1038/35098106. PMID   11675789. S2CID   4395388.
• Andersen JS, Lyon CE, Fox AH, et al. (2002). "Directed proteomic analysis of the human nucleolus". Curr. Biol. 12 (1): 1–11. Bibcode:2002CBio...12....1A. doi: 10.1016/S0960-9822(01)00650-9 . PMID   11790298. S2CID   14132033.
• Strässer K, Masuda S, Mason P, et al. (2002). "TREX is a conserved complex coupling transcription with messenger RNA export". Nature. 417 (6886): 304–8. Bibcode:2002Natur.417..304S. doi:10.1038/nature746. PMID   11979277. S2CID   1112194.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• McCracken S, Longman D, Johnstone IL, et al. (2004). "An evolutionarily conserved role for SRm160 in 3'-end processing that functions independently of exon junction complex formation". J. Biol. Chem. 278 (45): 44153–60. doi: 10.1074/jbc.M306856200 . PMID   12944400.
• Reuter TY, Medhurst AL, Waisfisz Q, et al. (2003). "Yeast two-hybrid screens imply involvement of Fanconi anemia proteins in transcription regulation, cell signaling, oxidative metabolism, and cellular transport". Exp. Cell Res. 289 (2): 211–21. doi:10.1016/S0014-4827(03)00261-1. PMID   14499622.
• Li J, Hawkins IC, Harvey CD, et al. (2003). "Regulation of alternative splicing by SRrp86 and its interacting proteins". Mol. Cell. Biol. 23 (21): 7437–47. doi:10.1128/MCB.23.21.7437-7447.2003. PMC   207616 . PMID   14559993.
• Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. Bibcode:2003Natur.425..805M. doi: 10.1038/nature02055 . PMID   14574404.
• Lehner B, Semple JI, Brown SE, et al. (2004). "Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region". Genomics. 83 (1): 153–67. doi:10.1016/S0888-7543(03)00235-0. PMID   14667819.
• Price P, Wong AM, Williamson D, et al. (2004). "Polymorphisms at positions -22 and -348 in the promoter of the BAT1 gene affect transcription and the binding of nuclear factors". Hum. Mol. Genet. 13 (9): 967–74. doi: 10.1093/hmg/ddh113 . PMID   15028669.