Gene Ontology annotation through association of InterPro records with GO terms
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Combined Automated Annotation using Multiple IEA Methods
Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
-
Pathogenic human ALDH7A1 (antiquitin) mutations abolish P6C/AASA dehydrogenase activity.
"these mutations abolish the activity of antiquitin as a delta1-piperideine-6-carboxylate (P6C)-alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase."
Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress.
-
Recombinant human ALDH7A1 oxidizes AASA, betaine aldehyde and lipid-peroxidation aldehydes, and localizes to cytosol, nucleus and mitochondria.
"Purified recombinant ALDH7A1 efficiently metabolized a number of aldehyde substrates"
ALDH7A1 inhibits the intracellular transport pathways during hypoxia and starvation to promote cellular energy homeostasis.
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy.
Biochemical, structural, and computational analyses of two new clinically identified missense mutations of ALDH7A1.
-
The tetramer is the active form of human ALDH7A1.
"Because the tetramer is the active form of ALDH7A1, the defect in oligomerization explains the very low catalytic activity of R134S."
ALDH7A1 protects against ferroptosis by generating membrane NADH and regulating FSP1.
alpha-aminoadipoate semialdehyde + NAD+ => alpha-aminoadipate + NADH + H+
-
Reactome curates the ALDH7A1 tetramer in the mitochondrial matrix as the AASA-oxidizing catalyst.
"Alpha-aminoadipic semialdehyde dehydrogenase (ALDH7A1) catalyzes the reaction of alpha-aminoadipic semialdehyde and NAD+ to form alpha-aminoadipate and NADH + H+"
PAINT IBD annotations for PANTHER family PTHR43521 (alpha-aminoadipic semialdehyde dehydrogenase)
-
PAINT node PTN000192435 carries GO:0004043 and GO:0019477 IBDs seeded by mouse, human and zebrafish ALDH7A1, plus betaine-aldehyde dehydrogenase and five locations; no ferroptosis, aldehyde metabolic process or choline catabolism IBD exists in the family.
"MGI:MGI:108186|UniProtKB:P49419|ZFIN:ZDB-GENE-030131-6129"
Horse ALDH7A1 (A0A9L0R3Y5): evolutionary grounding and residue conservation
-
Horse A0A9L0R3Y5 is 95.7% identical to human P49419 over all 539 human residues and conserves all 14 experimentally annotated catalytic, NAD-binding and AASA-binding residues.
"Result: all_sites_conserved = true."
-
Horse descends from PAINT node PTN000192435 by taxonomic bracketing.
"inherits the node's assertions unless there is horse-specific evidence of loss."
-
Horse mitochondrial import is unverified because of a 27-residue N-terminal extension.
"horse ALDH7A1 is therefore inferred, not observed."
UniProtKB A0A9L0R3Y5: horse ALDH7A1 sequence, family and domain classification
-
A0A9L0R3Y5 is classified in PANTHER subfamily PTHR43521:SF1.
"PTHR43521:SF1; ALPHA-AMINOADIPIC SEMIALDEHYDE DEHYDROGENASE"
-
A0A9L0R3Y5 matches the CDD family-7 AASA dehydrogenase model.
"cd07130; ALDH_F7_AASADH"