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Description for Protein ALDH18A1

aldehyde dehydrogenase 18 family, member A1
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
1.2.1.41; 2.7.2.11
KEGG - Orthology:
K12657
KEGG - Pathway(s):
hsa00330; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
P5CS; Glutamate gamma semialdehyde synthetase; GSAS; EC 2.7.2.11; EC 1.2.1.41; P5Cs; P5CSL; Pyrroline-5-carboxylate synthetase isoform 2; Pyrroline-5-carboxylate synthetase isoform 1
Approved Symbol:
ALDH18A1
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 3
Human (de-) phosphorylation sites: 3; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • L-Glutamic Acid(db)

    Associated Genetic Diseases:

  • Hyperammonemia with hypoornithinemia, hypocitrullinemia, hypoargininemia, and hypoprolinemia(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00696 Entrez Gene ID: 5832 OMIM ID: 138250 Swissprot Accession: P54886;