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N-ethylmaleimide-sensitive factor

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GeneName nsfa
Aliases ENSDARG:ENSDARG00000007654; wu:fj33g11; si:bz18k17.1; nsf
Description N-ethylmaleimide-sensitive factor
GenomicLocation chromosome 3 34852285-34886337 reverse strand
ExternalIDs Entrez:368483; EMBL:BC050490; UniGene:9155; ZFIN:ZDB-GENE-030616-37;
TranscriptID ENSDART:ENSDART00000103043; ENSDART:ENSDART00000000781;
mRNA NCBI:NM_001044328
GeneDescription Nsf gene is a member of AAA ATPase family. It has a N-terminal domain (N) that mediates interaction of nsf with SNAPs and SNAREs, a catalytically active ATPase domain(D1), and a catalytically inactive ATPase domain(D2) that mediates assembly of nsf monomers into hexamers, the biologically active form of nsf.
GeneFunction Nsf plays a key role in synaptic transmission and it is required for the fusion of neurotransmitter containing vesicles with presynaptic membranes Woods et al. (2006) showed that nsf to be essential for membrane fusion in eukaryotes and plays a main role in vesicle fusion at chemical synapses. In addition they have identified that two mutations in nsf reduced the expression of myelin basic protein in both the PNS and CNS of larval zebrafish.

GeneStructure Nsf encodes three transcripts. the first transcript ENSDART00000103043 consists of 21 exones and is 3184 bps long, the protien ENSDARP00000093817 is 744 residue long. The second transcript ENSDART00000148647 consist of 10 exones and is 937bps long, The third transcript ENSDART00000149968 has 6 exons and is 819 bps in length. the second and third transcripts doesn't code for any protien.
Protein ENSDARP00000093817 ENSDARP00000000690
ProteinDomainandFamilies has domain InterPro:IPR003338; InterPro:IPR003960; InterPro:IPR003959; InterPro:IPR003593; InterPro:IPR004201;
Motifs has motif Prosite:PS00674; PFAM:PF00004; PFAM:PF02359; PFAM:PF02933;
Expression ArrayExpress:ENSDARG00000007654
GeneOntology GO:0045162; GO:0051875; GO:0048794; GO:0048914; GO:0048929; GO:0014044; GO:0048592; GO:0014037; GO:0048932; GO:0048933; GO:0005524; GO:0017111; GO:0000166;
Orthologs Entrez:4905;
VariationAndRepeats RSID:rs40913624: RSID:rs40913624: RSID:rs252299596: RSID:rs252299596: RSID:rs252299596: RSID:rs252299597
DisordersAndMutations ZFINID:ZDB-GENO-090828-8;ZFINID:ZDB-GENO-090828-7;ZFINID:ZDB-GENO-090828-5;ZFINID:ZDB-GENO-090821-2;ZFINID:ZDB-GENO-060614-1;ZFINID:ZDB-GENO-090605-31;ZFINID:ZDB-GENO-060614-2;ZFINID:ZDB-GENO-090821-1;Woods et al. (2006) observed paralysis and impaired response to light in zebrafish nsf mutants, reflecting disrupted nsf function in synaptic transmission and neural activity. They also showed nsf functional independence in synaptic vesicle fusion, in the formation of the nodes of Ranvier in vertebrate nervous system.Pogoda et al. (2006) used two allelic mutants nsfst25 nsfst53 for overall reduction of mbp mRNA and mbp protein and for a slight reduction in axonal tubulin staining in PLLn. They observed a stronger phenotype in nsfst53 mutants with slightly reduced eyes at 5 dpf.
RelatedPubMedArticles Woods, I. G.; Lyons, D. A.; Voas, M. G.; Pogoda, H. M.; Talbot, W. S.: nsf is essential for organization of myelinated axons in zebrafish. Curr Biol. 2006 Apr 4;16(7):636-48. PMID:16581508 Pogoda, H. M.; Sternheim, N.; Lyons, D. A.; Diamond, B.; Hawkins, T. A.; Woods, I. G.; Bhatt, D. H.; Franzini-Armstrong, C.; Dominguez, C.; Arana, N.; Jacobs, J.; Nix, R.; Fetcho, J. R.; Talbot, W. S.: A genetic screen identifies genes essential for development of myelinated axons in zebrafish. Dev Biol. 2006 Oct 1;298(1):118-31. Epub 2006 Jun 15. PMID:16875686 NCBI Resource Coordinators.: Database resources of the National Center for Biotechnology Information. Nucleic Acids Res. 41(Database issue):D8-D20. 2013. PMID:23193264
Kersey, P. J.; Allen, J. E.; Christensen, M.; et al.: Ensembl Genomes 2013: scaling up access to genome-wide data. Nucleic Acids Res. 2013. PMID:24163254
Sigrist, C. J. A.; de, Castro, E; Cerutti, L; Cuche, B. A.; Hulo, N.; Bridge, A.; Bougueleret, L. Xenarios, I.: New and continuing developments at PROSITE. Nucleic Acids Res. doi: 10.1093/nar/gks1067. 2012. PMID:23161676
Punta, M.; Coggill, P. C.; Eberhardt, et al.: The Pfam protein families database. Nucleic Acids Res. 40(Database Issue):D290-D301. 2012. PMID:22127870
Hunter, S.; Jones P.; Mitchell A.; et al.: Interpro in 2011: new developments in the family and domain prediction database. Nucleic Acids Res. doi: 10.1093/nar/gkr948. 2011. PMID:22096229
Carbon, S.; Ireland, A.; Mungall, C. J.; Shu, S.; Marshall, B.; Lewis, S.; AMIGO Hub; Web Presence Working Group.: AMIGO: online access to ontology and annotation data. Bioinformatics. 25(2):288-9. 2009. PMID:19033274
Ashburner, M.; Ball, C. A.; Blake, J. A.; et al. The Gene Ontology Consortium.: Gene ontology: tool for the unification of biology. Nat. Genet. 25(1):25-9. 2000. PMID:10802651
Sherry, S. T.; Ward, M. H.; Kholodov, M.; Baker, J.; Phan, L.; Smigielski, E. M.; Sirotkin, K.: dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 1;29(1):308-11. 2001. PMID:11125122
Bradford, Y.; Conlin, T.; Dunn, N.; et al.: ZFIN: enhancements and updates to the zebrafish model organism database. Nucleic Acids Res. 39(suppl 1):D822-D829. 2011. PMID:21036866
Kapushesky, M.; Adamusiak, T.; Burdett, T.; et al.: Gene Expression Atlas update--a value-added database of microarray and sequencing-based functional genomics experiments. Nucleic Acids Res. 40(Database isue):D1077-81. 2012. PMID:22064864

Web resources:
NCBI: http://www.ncbi.nlm.nih.gov/
PFAM: http://pfam.sanger.ac.uk/
PROSITE: http://prosite.expasy.org/
Interpro: http://www.ebi.ac.uk/interpro/
ZFIN: http://zfin.org/
Expression Atlas (EMBL): http://www.ebi.ac.uk/gxa/
Ensembl: http://asia.ensembl.org/Danio_rerio/
Database of Single Nucleotide Polymorphisms (dbSNP). Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine.: http://www.ncbi.nlm.nih.gov/SNP/
PRINTS from Genomenet: http://www.genome.jp/
European Nucleotide Archive: http://www.ebi.ac.uk/ena/home
UNIGENE: http://www.ncbi.nlm.nih.gov/unigene/
AMIGO Gene Ontology: http://amigo.geneontology.org
Topic revision: r2 - 2013-07-07 - RamcharanAngom
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