The protein encoded by this gene is similar to Saccharomyces cerevisiae LYS5, which is required for the activation of the alpha-aminoadipate dehydrogenase in the biosynthetic pathway of lysine. Yeast alpha-aminoadipate dehydrogenase converts alpha-biosynthetic-aminoadipate semialdehyde to alpha-aminoadipate. It has been suggested that defects in the human gene result in pipecolic acidemia.[7]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000149313 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000025894 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Joshi AK, Zhang L, Rangan VS, Smith S (Aug 2003). "Cloning, expression, and characterization of a human 4'-phosphopantetheinyl transferase with broad substrate specificity". J Biol Chem. 278 (35): 33142–9. doi:10.1074/jbc.M305459200. PMID 12815048.
^Praphanphoj V, Sacksteder KA, Gould SJ, Thomas GH, Geraghty MT (Apr 2001). "Identification of the alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase gene, the human ortholog of the yeast LYS5 gene". Mol Genet Metab. 72 (4): 336–42. doi:10.1006/mgme.2000.3138. PMID 11286508.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC528928. PMID 15489334.
Mammalian Gene Collection Program Team, Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proceedings of the National Academy of Sciences. 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC139241. PMID 12477932.
Zhang QH, Ye M, Wu XY, et al. (2001). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells". Genome Res. 10 (10): 1546–60. doi:10.1101/gr.140200. PMC310934. PMID 11042152.
Hu RM, Han ZG, Song HD, et al. (2000). "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning". Proc. Natl. Acad. Sci. U.S.A. 97 (17): 9543–8. Bibcode:2000PNAS...97.9543H. doi:10.1073/pnas.160270997. PMC16901. PMID 10931946.
Lai CH, Chou CY, Ch'ang LY, et al. (2000). "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics". Genome Res. 10 (5): 703–13. doi:10.1101/gr.10.5.703. PMC310876. PMID 10810093.
aasdhppt, aminoadipate, semialdehyde, dehydrogenase, phosphopantetheinyl, transferase, enzyme, that, humans, encoded, gene, available, structurespdbortholog, search, pdbe, rcsblist, codes2byd, 2c43, 2cg5identifiersaliases, aasd, lys2, lys5, acps, aminoadipate,. L aminoadipate semialdehyde dehydrogenase phosphopantetheinyl transferase is an enzyme that in humans is encoded by the AASDHPPT gene 5 6 7 AASDHPPTAvailable structuresPDBOrtholog search PDBe RCSBList of PDB id codes2BYD 2C43 2CG5IdentifiersAliasesAASDHPPT AASD PPT LYS2 LYS5 CGI 80 ACPS aminoadipate semialdehyde dehydrogenase phosphopantetheinyl transferaseExternal IDsOMIM 607756 MGI 1914868 HomoloGene 9130 GeneCards AASDHPPTGene location Human Chr Chromosome 11 human 1 Band11q22 3Start106 075 501 bp 1 End106 098 699 bp 1 Gene location Mouse Chr Chromosome 9 mouse 2 Band9 9 A1Start4 294 793 bp 2 End4 309 471 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inspermfrontal polepostcentral gyrusBrodmann area 23superior frontal gyrussuperior vestibular nucleusponscerebellar vermisorbitofrontal cortexmiddle frontal gyrusTop expressed inhandendocardial cushionatrioventricular valvePaneth cellspermatocyteabdominal wallleft lobe of liverurotheliumsoleus musclemyocardium of ventricleMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functiontransferase activity protein binding magnesium ion binding metal ion binding holo acyl carrier protein synthase activity Cellular componentcytoplasm cytosol extracellular exosomeBiological processlysine biosynthetic process via aminoadipic acid pantothenate metabolic processSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez6049667618EnsemblENSG00000149313ENSMUSG00000025894UniProtQ9NRN7Q9CQF6RefSeq mRNA NM 015423NM 026276NM 001326359RefSeq protein NP 056238NP 001313288NP 080552Location UCSC Chr 11 106 08 106 1 MbChr 9 4 29 4 31 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseThe protein encoded by this gene is similar to Saccharomyces cerevisiae LYS5 which is required for the activation of the alpha aminoadipate dehydrogenase in the biosynthetic pathway of lysine Yeast alpha aminoadipate dehydrogenase converts alpha biosynthetic aminoadipate semialdehyde to alpha aminoadipate It has been suggested that defects in the human gene result in pipecolic acidemia 7 References edit a b c GRCh38 Ensembl release 89 ENSG00000149313 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000025894 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Joshi AK Zhang L Rangan VS Smith S Aug 2003 Cloning expression and characterization of a human 4 phosphopantetheinyl transferase with broad substrate specificity J Biol Chem 278 35 33142 9 doi 10 1074 jbc M305459200 PMID 12815048 Praphanphoj V Sacksteder KA Gould SJ Thomas GH Geraghty MT Apr 2001 Identification of the alpha aminoadipic semialdehyde dehydrogenase phosphopantetheinyl transferase gene the human ortholog of the yeast LYS5 gene Mol Genet Metab 72 4 336 42 doi 10 1006 mgme 2000 3138 PMID 11286508 a b Entrez Gene AASDHPPT aminoadipate semialdehyde dehydrogenase phosphopantetheinyl transferase Further reading editRual JF Venkatesan K Hao T et al 2005 Towards a proteome scale map of the human protein protein interaction network Nature 437 7062 1173 8 Bibcode 2005Natur 437 1173R doi 10 1038 nature04209 PMID 16189514 S2CID 4427026 Gerhard DS Wagner L Feingold EA et al 2004 The status quality and expansion of the NIH full length cDNA project the Mammalian Gene Collection MGC Genome Res 14 10B 2121 7 doi 10 1101 gr 2596504 PMC 528928 PMID 15489334 Mammalian Gene Collection Program Team Strausberg RL Feingold EA Grouse LH et al 2002 Generation and initial analysis of more than 15 000 full length human and mouse cDNA sequences Proceedings of the National Academy of Sciences 99 26 16899 16903 Bibcode 2002PNAS 9916899M doi 10 1073 pnas 242603899 PMC 139241 PMID 12477932 Zhang QH Ye M Wu XY et al 2001 Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34 hematopoietic stem progenitor cells Genome Res 10 10 1546 60 doi 10 1101 gr 140200 PMC 310934 PMID 11042152 Hu RM Han ZG Song HD et al 2000 Gene expression profiling in the human hypothalamus pituitary adrenal axis and full length cDNA cloning Proc Natl Acad Sci U S A 97 17 9543 8 Bibcode 2000PNAS 97 9543H doi 10 1073 pnas 160270997 PMC 16901 PMID 10931946 Lai CH Chou CY Ch ang LY et al 2000 Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics Genome Res 10 5 703 13 doi 10 1101 gr 10 5 703 PMC 310876 PMID 10810093 External links editAASDHPPT human gene location in the UCSC Genome Browser AASDHPPT human gene details in the UCSC Genome Browser nbsp This article on a gene on human chromosome 11 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title AASDHPPT amp oldid 1198567862, wikipedia, wiki, book, books, library,
