AASDHPPT

AASDHPPT
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases AASDHPPT, AASD-PPT, LYS2, LYS5, CGI-80, ACPS, aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
External IDs MGI: 1914868 HomoloGene: 9130 GeneCards: AASDHPPT
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

60496

67618

Ensembl

ENSG00000149313

ENSMUSG00000025894

UniProt

Q9NRN7

Q9CQF6

RefSeq (mRNA)

NM_015423

NM_026276
NM_001326359

RefSeq (protein)

NP_056238.2

NP_080552.3

Location (UCSC) Chr 11: 106.08 – 106.1 Mb Chr 9: 4.29 – 4.31 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase is an enzyme that in humans is encoded by the AASDHPPT gene.[3][4][5]

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.[5]

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 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.
  4. 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.
  5. 1 2 "Entrez Gene: AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase".

Further reading

External links


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