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aminolevulinate, delta-, synthetase 2


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GeneName alas2
Aliases ENSDARG:ENSDARG00000038643; aminolevulinate, delta-, synthetase 2; alas-e, si:dkey-24f17, sauternes , cb1063 , sau
Description aminolevulinate, delta-, synthetase 2
GenomicLocation chromosome 8 21891896-21907046 forward strand
ExternalIDs Entrez:64607; EMBL:BC056338; UniGene:8180; ZFIN:ZDB-GENE-001229-1;
TranscriptID ENSDART:ENSDART00000056420; ENSDART:ENSDART00000131691
mRNA NCBI:NM_131682
GeneDescription alas2 is a gene that encodes a protein Delta-aminolevulinate synthase 2 .The product of this gene specifies an erythroid-specific, mitochondria located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway.
GeneFunction Brownlie et al. (1998) and Brownlie et al. (2003) reported the characterization of the sau mutant phenotype and the positional cloning of the sau gene. They showed that sau encodes the erythroid-specific isoform of the haem biosynthetic enzyme ALAS2, providing further support of a link between intracellular haem levels and erythroid differentiation.Wang et al. (2007) during their study of the regulation of exocrine peptidase precursor genes by heme in Zebrafish, examined the expression of the six peptidase genes in zebrafish mutant sau/alas2 (30). They found downregulation of these six peptidase precursor genes in the sau/alas2 mutant. They also examined the expression of pancreas transcription factor 1a (ptf1a), which encodes a pancreas-specific basic helix-loop-helix (bHLH) transcription factor, and showed that ptf1a is downregulated in both yquem/urod and sauternes/alas2 mutant larvae.
GeneCloning The gene is contained in BAC clones CH211-15B7 (Vector: pTARBAC2.1), DKEY-24F17 (Vector: pIndigoBAC-536) and DKEY-163F12 (Vector: pIndigoBAC-536).
GeneStructure This gene encodes a single transcript (ENSDART00000056420), which consists of 11 exons and is 2,544 bps in length. The protein product (ENSDARP00000056419) consists of 583 residues.This gene encodes a single transcript (ENSDART00000131691), which consists of 2 exons and is 618 bps in length.
Protein ENSDARP00000056419
ProteinDomainandFamilies has domain InterPro:IPR000819; InterPro:IPR010961; InterPro:IPR004839; InterPro:IPR015422; InterPro:IPR001917; InterPro:IPR015421;
Motifs has motif Prosite:PS00599; PFAM:PF00155;
Expression ArrayExpress:ENSDARG00000038643
GeneOntology GO:0005739; GO:0006783; GO:0008152; GO:0009058; GO:0035162; GO:0016769; GO:0003870; GO:0016740; GO:0008415; GO:00038705; GO:0003824; GO:0030170; GO:0033014;
Orthologs Entrez:212
VariationAndRepeats RSID:rs40746509; RSID:rs41037736; RSID:rs40706321; RSID:rs41010418; RSID:rs40733834; RSID:rs41000218; RSID:rs40869059; RSID:rs41093764; RSID:rs40723966; RSID:rs40684879; RSID:rs41073556; RSID:rs40856743; RSID:rs41047160; RSID:rs41045925; RSID:rs41010767;
DisordersAndMutations sauternes is an ENU mutant and sau encodes zebrafish ALAS2, representing the first animal model for congenital sideroblastic anemia. ZFINID:ZDB-GENO-101029-2; ZFINID:ZDB-GENO-080326-4; ZFINID:ZDB-GENO-980202-1025; ZFINID:ZDB-GENO-980202-1405; ZFINID:ZDB-GENO-101220-5;
RelatedPubMedArticles Brownlie A.; Donovan A.; Pratt S. J.; Paw B. H.; Oates A. C.; Brugnara C.; Witkowska H. E.; Sassa S.; Zon L. I. Positional cloning of the zebrafish sauternes gene: a model for congenital sideroblastic anaemia. Nat Genet.;20(3):244-50, 1998. PMID:9806542 Brownlie A.; Hersey C.; Oates A. C.; Paw B. H.; Falick A. M.; Witkowska H. E.; Flint J.; Higgs D.; Jessen J.; Bahary N.; Zhu H.; Lin S.; Zon L.: Characterization of embryonic globin genes of the zebrafish. Dev Biol. . 255(1):48-61.2003. PMID:12618133 Wang H.; Zhou Q.; Kesinger J. W.; Norris C.; Valdez C. Heme regulates exocrine peptidase precursor genes in zebrafish. Exp. Biol. Med. 232(9):1170-1180, 2007. PMID:17895525 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 - 2013-07-06 - DivyaJagga
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