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
Gene location (Human)
Chr.	Chromosome 6 (human)[1]
End	31,542,448 bp[1]
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)[2]
End	35,472,683 bp[2]
RNA expression pattern
	Top expressed in
	ganglionic eminence; ; anterior pituitary; ; right uterine tube; ; right lobe of thyroid gland; ; left lobe of thyroid gland; ; canal of the cervix; ; gastric mucosa; ; left uterine tube; ; tibial nerve; ; skin of abdomen;
	Top expressed in
	primitive streak; ; abdominal wall; ; maxillary prominence; ; medullary collecting duct; ; renal corpuscle; ; vas deferens; ; hair follicle; ; ganglionic eminence; ; dermis; ; hand;
	More reference expression data
	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
	7919
	53817
ENSG00000198563; ENSG00000225073; ENSG00000237889; ENSG00000229496; ENSG00000215425;
	ENSG00000235439; ENSG00000225859; ENSG00000230624
	ENSMUSG00000019432
	Q13838
	Q9Z1N5
	NM_004640; NM_080598
	NM_001252457; NM_019693
	NP_004631; NP_542165
	NP_001239386; NP_062667
	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

ENSG00000225073, ENSG00000237889, ENSG00000229496, ENSG00000215425, ENSG00000235439, ENSG00000225859, ENSG00000230624 GRCh38: Ensembl release 89: ENSG00000198563, ENSG00000225073, ENSG00000237889, ENSG00000229496, ENSG00000215425, ENSG00000235439, ENSG00000225859, ENSG00000230624 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000019432 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
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.
"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)

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. 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.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] ENSG00000225073, ENSG00000237889, ENSG00000229496, ENSG00000215425, ENSG00000235439, ENSG00000225859, ENSG00000230624 GRCh38: Ensembl release 89: ENSG00000198563, ENSG00000225073, ENSG00000237889, ENSG00000229496, ENSG00000215425, ENSG00000235439, ENSG00000225859, ENSG00000230624 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid7601445-5] 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.

[pmid2813433-6] 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.

[entrez-7] "Entrez Gene: BAT1 HLA-B associated transcript 1".

BAT1

References

External links

Further reading