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sec23a

Sec23 homolog A (S. cerevisiae)

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GeneInformationForm
GeneName sec23a
Aliases ENSDARG:ENSDARG00000016636; zgc:55534; wu:fc10f08; wu:fi15g03; sec23a
Description Sec23 homolog A (S. cerevisiae)
GenomicLocation chromosome 17 10455926-10510720 reverse strand
ExternalIDs Entrez:406774; EMBL:BC097063; UniGene:33071; ZFIN:ZDB-GENE-040426-2823;
TranscriptID ENSDART:ENSDART00000145617; ENSDART:ENSDART00000003246
mRNA NCBI:NM_213465
GeneDescription Sec23 homolog A (S. cerevisiae), encodes a protein which belongs to sec23 superfamily. It is part of a protein complex and is found in the ribosome-free transitional face of the endoplasmic reticulum (ER) and associated vesicles.
GeneFunction Lang et al. (2006) reported that a non-sense mutation in sec23a leads to malformed craniofacial skeleton, kinked pectoral fins and short body length. It was observed that in sec23a(crusher) variant the condryocytes accumulate protein in a distended endoplasmic reticulum resulting in severe reduction in cartilage extracellular matrix deposits including type II collagen.Boyadjiev et al. (2006) showed that the sec23a MOs exhibited short body length and a dorsally oriented curvature. It was observed that the sec23a homozygous mutants showed Endoplasmic reticulum that were highly distended by the accumulation of secretory material and due to this defect in secretion of collagen and other extracellular matrix proteins there is an abnormal formation of bones and connective tissues.
GeneCloning sec23a Contained in [BAC] DKEY-71B9
GeneStructure This gene encodes 2 transcripts. (ENSDART00000003246) which consists of 21 exons and is 2,955 bps in length.The protein product (ENSDARP00000016444) consists of 765 residues. (ENSDART00000145617) which consists of 20 exons and is 5564 bps in length.The protein product (ENSDARP00000116386) consists of 765 residues.
Protein ENSDARP:ENSDARP00000116386; ENSDARP:ENSDARP00000016444;
ProteinDomainandFamilies InterPro:IPR002035; InterPro:IPR006895; InterPro:IPR006896; InterPro:IPR006900; InterPro:IPR007123; InterPro:IPR012990;
Motifs has motif PFAM:PF00626; PFAM:PF04810; PFAM:PF04811; PFAM:PF04815; PFAM:PF08033;
Expression ArrayExpress:ENSDARG00000016636;
GeneOntology GO:0030127; GO:0006886; GO:0006888; GO:0051216; GO:0048702; GO:0035138; GO:0005515; GO:0008270; GO:0006810; GO:0005794; GO:0005783; GO:0016192; GO:0015013; GO:0016020;
Orthologs Entrez:10484;
VariationAndRepeats RSID:rs40942347; RSID:rs41107426; RSID:rs180091117; RSID:rs40908036; RSID:rs40752723; RSID:rs180091116; RSID:rs180091115; RSID:rs180091114; RSID:rs180091113; RSID:rs180091112; RSID:rs41095031; RSID:rs41153326; RSID:rs180091111; RSID:rs180091110; RSID:rs180091109; RSID:rs180091108; RSID:rs41174471; RSID:rs180091106; RSID:rs180091105; RSID:rs40765064; RSID:rs40901010; RSID:rs180091118
DisordersAndMutations ZFINID:ZDB-GENO-080606-339;ZFINID:ZDB-GENO-980202-159;
RelatedPubMedArticles Lang, M.R.; Lapierre, L.A.; Frotscher, M.; Goldenring, J.R.; Knapik, E.W.: Secretory COPII coat component Sec23a is essential for craniofacial chondrocyte maturation. Nat Genet.;38(10):1198-203, 2006. PMID: 16980978Boyadjiev, S.A.; Fromme, J.C.; Ben, J.; Chong, S.S.; Nauta, C.; Hur, D.J.; Zhang, G.; Hamamoto, S.; Schekman, R.; Ravazzola, M.; Orci, L.; Eyaid, W.: Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking. Nat Genet.;38(10):1192-7, 2006. PMID: 16980979NCBI 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: r4 - 2013-09-03 - SubburajK
 
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