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Description for Protein ALDH7A1

aldehyde dehydrogenase 7 family, member A1
3 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
Antiquitin is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. Mutations in this gene cause pyridoxine-dependent epilepsy, which involves a combination of various seizure types and is responsive to immediate administration of pyridoxine hydrochloride. Four additional human antiquitin-like sequences, all of which are pseudogenes, have also been identified. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
1.2.1.3
KEGG - Orthology:
K00128
KEGG - Pathway(s):
hsa00010; hsa00053; hsa00071; hsa00280; hsa00310; hsa00330; hsa00340; hsa00380; hsa00410; hsa00561; hsa00620; hsa00640; hsa00650; hsa00903; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
Antiquitin; Antiquitin 1; ATQ1; Aldehyde dehydrogenase 7A1; EC 1.2.1.3
Approved Symbol:
ALDH7A1
(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):

  • NADH(db);
  • Pyridoxine(db)

    Associated Genetic Diseases:

  • Epilepsy, pyridoxine-dependent(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00124 Entrez Gene ID: 501 OMIM ID: 107323 Swissprot Accession: P49419;