AASDHPPT

L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase is an enzyme that in humans is encoded by the AASDHPPT gene.[5][6][7]

AASDHPPT
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2BYD, 2C43, 2CG5
Identifiers
Aliases	AASDHPPT, AASD-PPT, LYS2, LYS5, CGI-80, ACPS, aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
External IDs	OMIM: 607756 MGI: 1914868 HomoloGene: 9130 GeneCards: AASDHPPT
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q22.3 Start 106,075,501 bp[1] End 106,098,699 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9|9 A1 Start 4,294,793 bp[2] End 4,309,471 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • transferase activity • GO:0001948 protein binding • magnesium ion binding • metal ion binding • holo-[acyl-carrier-protein synthase activity] Cellular component • cytoplasm • cytosol • extracellular exosome Biological process • lysine biosynthetic process via aminoadipic acid • pantothenate metabolic process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	60496	67618
Ensembl	ENSG00000149313	ENSMUSG00000025894
UniProt	Q9NRN7	Q9CQF6
RefSeq (mRNA)	NM_015423	NM_026276 NM_001326359
RefSeq (protein)	NP_056238	NP_001313288 NP_080552
Location (UCSC)	Chr 11: 106.08 – 106.1 Mb	Chr 9: 4.29 – 4.31 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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]

References

1. GRCh38: Ensembl release 89: ENSG00000149313 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000025894 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "Entrez Gene: AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase".

Further reading

• 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. doi:10.1038/nature04209. PMID 16189514.
• 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, R. L.; Feingold, E. A.; Grouse, L. H.; 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. 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. 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

• AASDHPPT human gene location in the UCSC Genome Browser.
• AASDHPPT human gene details in the UCSC Genome Browser.