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uroporphyrinogen III synthase


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GeneName uros
Aliases ENSDARG:ENSDARG00000027491; zgc:110240, wu:fd13d11, uroporphyrinogen III synthase
Description uroporphyrinogen III synthase
GenomicLocation chromosome 12 50188002-50196421 reverse strand
ExternalIDs ZFIN:ZDB-GENE-040323-2;
TranscriptID ENSDART:ENSDART00000130190; ENSDART:ENSDART00000105309
mRNA NCBI:NM_212828
GeneDescription uroporphyrinogen III synthase (uros) is heme synthesis enzyme which is well conserved in comparison to their human counterparts. It is involved in tetrapyrrole biosynthetic process.
GeneFunction Hanaoka 2007, reported two zebrafish heme synthesis enzymes, uroporphyrinogen III synthase (UROS) and protoporphyrinogen oxidase (PPO) that are well conserved in comparison to their human counterparts.
GeneCloning The gene uros Contains: [SNP] rs3728525. uros Encodes:[EST] fd13d11, IMAGE:6912557. [cDNA] MGC:110240,MGC:192012.
GeneStructure The gene encodes for 2 transcripts. the transcript (ENSDART00000105309) consists of 9 coding exons out of 10. the transcript length is 1859 bps and codes for a protein ( ENSDARP00000096080) of 262 residues. The second transcript ENSDART00000130190) consists of 9 coding exons out of 11 exons with a length of 1224 bps and codes for a protein product of length 262 residues.
Protein ENSDARP00000107770 ENSDARP00000096080
ProteinDomainandFamilies has domain InterPro:IPR003754;
Motifs has motif PFAM:PF02602;
Expression ArrayExpress:ENSDARG00000027491;
GeneOntology GO:0006783; GO:0006779; GO:0004852;
Orthologs Entrez:Gene:7390
VariationAndRepeats RSID:rs180122453; RSID:rs3728525; RSID:rs40849719
DisordersAndMutations It is associated with congenital erythropoietic porphyria
RelatedPubMedArticles Hanaoka R, Dawid IB, Kawahara A. Cloning and expression of zebrafish genes encoding the heme synthesis enzymes uroporphyrinogen III synthase (UROS) and protoporphyrinogen oxidase (PPO).DNA Seq. 2007 Feb;18(1):54-60. PMID:17364814 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 - 2013-08-20 - ShrutiKapur
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