AASDHPPT

Last updated

AASDHPPT
Protein AASDHPPT PDB 2byd.png
Available structures
PDB Ortholog search: PDBe RCSB
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; 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 Mb Chr 9: 4.29 – 4.31 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

Contents

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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000149313 Ensembl, May 2017
  2. 1 2 3 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. 1 2 "Entrez Gene: AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase".

Further reading