AASDHPPT

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

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 MbChr 9: 4.29 – 4.31 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase (AASDHPPT) is an enzyme that in humans is encoded by the AASDHPPT gene.[5][6][7] It has been suggested that defects in the human gene result in pipecolic acidemia.[7]

The AASDHPPT protein catalyzes the post-translational modification phosphopantetheinylation, in which a 4'-phosphopantetheine (4'-PP) group derived from coenzyme A is covalently attached to target proteins in both cytosol and mitochondria.[8] In the cytosol, these include fatty acid synthase (FASN), aminoadipate semialdehyde dehydrogenase (AASDH), and aldehyde dehydrogenase 1 family member L1 (ALDH1L1), whereas in mitochondria the targets are the mitochondrial acyl carrier protein (mtACP), aldehyde dehydrogenase 1 family member L2 (ALDH1L2), and dehydrogenase/reductase 2 (DHRS2).[8] With the exception of DHRS2, the targets of AASDHPPT contain a acyl carrier protein (ACP) domain, a cofactor domain widespread across bacteria and eukaryotes with roles in the synthesis of fatty acids, polyketides, and nonribosomal peptides.[9]

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.

References

  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".
  8. ^ a b Norden PR, Wedan RJ, Preston SE, Canfield M, Graber N, Longenecker JZ, Pentecost OA, McLaughlin E, Hart ML (2024-05-10). "Mitochondrial Phosphopantetheinylation is Required for Oxidative Function". bioRxiv 10.1101/2024.05.09.592977.
  9. ^ https://www.ebi.ac.uk/interpro/entry/InterPro/IPR036736/protein/reviewed/taxonomy/uniprot/9606/#table

Further reading