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

AASDHPPT
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesAASDHPPT, AASD-PPT, LYS2, LYS5, CGI-80, ACPS, aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
External IDsOMIM: 607756; MGI: 1914868; HomoloGene: 9130; GeneCards: AASDHPPT; OMA:AASDHPPT - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_015423

NM_026276
NM_001326359

RefSeq (protein)

NP_056238

NP_001313288
NP_080552

Location (UCSC)Chr 11: 106.08 – 106.1 MbChr 9: 4.29 – 4.31 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

edit
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000149313Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025894Ensembl, 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. ^ a b "Entrez Gene: AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase".

Further reading

edit
edit