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membrane-bound transcription factor protease, site 1

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GeneName mbtps1
Aliases ENSDARG:ENSDARG00000014634; s1p; wu:fe06e05; mbtps1
Description membrane-bound transcription factor protease, site 1
GenomicLocation chromosome 18 21426020-21465766 reverse strand
ExternalIDs Entrez:326710; EMBL:AY261515; UniGene:7917; ZFIN:ZDB-GENE-030131-4909;
TranscriptID ENSDART:ENSDART00000019861; ENSDART:ENSDART00000114292
mRNA NCBI:NM_199213
GeneDescription Zebrafish Site 1 protease (S1P) is encoded by goz mutant phenotype which comprises of cartilage matrix defects and irregular chondrocyte morphology.
GeneFunction Schlombs et al. (2003) showed the role of S1P in processing and activating sterol regulatory element-binding proteins (SREBPs), which regulate the expression of key enzymes of lipid biosynthesis or transport.
GeneCloning It is contained in [BAC] DKEYP-24A7
GeneStructure Mbtps1 encodes a single transcript ENSDART00000019861 which consists of 23 exons and 4,150 bps. The protein product ENSDARP00000007839 consists of 1,074 residues.
Protein ENSDARP00000007839 ENSDARP00000100056
ProteinDomainandFamilies has domain InterPro:IPR015500; InterPro:IPR000209;
Motifs has motif Prosite:PS00137; Prosite:PS00138; PFAM:PF00082; PRINTS:PR00723;
Expression ArrayExpress:ENSDARG00000014634
GeneOntology GO:0006508; GO:0001501; GO:0006629; GO:0004289; GO:0008233; GO:0004866; GO:0004175;

VariationAndRepeats RSID:rs180079084; RSID:rs180027554; RSID:rs40894684; RSID:rs41107930; RSID:rs180079085; RSID:rs41078346; RSID:rs40955429; RSID:rs41056470; RSID:rs180079086; RSID:rs180079087; RSID:rs180027580
DisordersAndMutations Schlombs et al. (2003) described the genetic and molecular characterization of the zebrafish mutant gonzo(goz), which displays phenotypes similar to human chondrodysplasias. Goz is a cartilage mutant with defects in chondrocyte morphogenesis, caused by mutations in the gene encoding site-1 protease (s1p). goz mutants displayed lipid deficiencies and are predicted from the known role of S1P in processing of sterol regulatory element binding-proteins(SREBPs).
RelatedPubMedArticles Schlombs, K.; Wagner, T.; Scheel, J.: Site-1 protease is required for cartilage development in zebrafish. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14024-9. Epub 2003 Nov 11. PMID:14612568 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 - 2013-07-27 - SrishtiNanda
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