ALDH7A1
entrez
501
canonical
uniprot
P49419
canonical
ensembl
ENSG00000164904
resolver
ensp
ENSP00000387123
resolver
ensp
ENSP00000448593
resolver
genesymbol
ALDH7A1
resolver
genesymbol_syn
ATQ1
resolver
hgnc
HGNC:877
resolver
uniprot
B2R669
resolver
uniprot
B4DIC7
resolver
uniprot
B4DMA0
resolver
uniprot
E7EPT3
resolver
uniprot
O14619
resolver
uniprot
Q6IPU8
resolver
uniprot
Q9BUL4
resolver
uniprot_entry
AL7A1_HUMAN
resolver
uniprot_sec
B2R669
resolver
uniprot_sec
B4DIC7
resolver
uniprot_sec
B4DMA0
resolver
uniprot_sec
E7EPT3
resolver
uniprot_sec
O14619
resolver
uniprot_sec
Q6IPU8
resolver
uniprot_sec
Q9BUL4
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by 4-diethylaminobenzaldehyde (DEAB); inhibition is irreversible via formation of a stable covalent acyl-enzyme stalled intermediate. {ECO:0000269|PubMed:25554827}.
uniprot
proteins
amino_acid_sequence
MWRLPRALCVHAAKTSKLSGPWSRPAAFMSTLLINQPQYAWLKELGLREENEGVYNGSWGGRGEVITTYCPANNEPIARVRQASVADYEETVKKAREAWKIWADIPAPKRGEIVRQIGDALREKIQVLGSLVSLEMGKILVEGVGEVQEYVDICDYAVGLSRMIGGPILPSERSGHALIEQWNPVGLVGIITAFNFPVAVYGWNNAIAMICGNVCLWKGAPTTSLISVAVTKIIAKVLEDNKLPGAICSLTCGGADIGTAMAKDERVNLLSFTGSTQVGKQVGLMVQERFGRSLLELGGNNAIIAFEDADLSLVVPSALFAAVGTAGQRCTTARRLFIHESIHDEVVNRLKKAYAQIRVGNPWDPNVLYGPLHTKQAVSMFLGAVEEAKKEGGTVVYGGKVMDRPGNYVEPTIVTGLGHDASIAHTETFAPILYVFKFKNEEEVFAWNNEVKQGLSSSIFTKDLGRIFRWLGPKGSDCGIVNVNIPTSGAEIGGAFGGEKHTGGGRESGSDAWKQYMRRSTCTINYSKDLPLAQGIKFQ
uniprot
proteins
disease_involvement
DISEASE: Epilepsy, early-onset, 4, vitamin B6-dependent (EPEO4) [MIM:266100]: An autosomal recessive neurologic disorder ocharacterized by a combination of various seizure types. It usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride. {ECO:0000269|PubMed:16491085, ECO:0000269|PubMed:17068770, ECO:0000269|PubMed:19128417, ECO:0000269|PubMed:20554659, ECO:0000269|PubMed:26232297, ECO:0000269|PubMed:31302938, ECO:0000269|PubMed:31652343, ECO:0000269|PubMed:38604394}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.2.1.3
uniprot
proteins
ec_number
1.2.1.31
uniprot
proteins
ec_number
1.2.1.8
uniprot
proteins
function
FUNCTION: Aldehyde dehydrogenase enzyme that mediates important protective effects (PubMed:16491085, PubMed:20207735, PubMed:20554659, PubMed:21338592, PubMed:25554827, PubMed:31302938, PubMed:31652343, PubMed:38604394, PubMed:40233740). Protects cells from oxidative stress by metabolizing a number of lipid peroxidation-derived aldehydes (PubMed:16491085, PubMed:20207735, PubMed:21338592, PubMed:40233740). Involved in cellular defense against hyperosmotic stress by metabolizing betaine aldehyde to betaine, an important cellular osmolyte and methyl donor (PubMed:20207735). {ECO:0000269|PubMed:16491085, ECO:0000269|PubMed:20207735, ECO:0000269|PubMed:20554659, ECO:0000269|PubMed:21338592, ECO:0000269|PubMed:25554827, ECO:0000269|PubMed:31302938, ECO:0000269|PubMed:31652343, ECO:0000269|PubMed:38604394, ECO:0000269|PubMed:40233740}.; FUNCTION: [Isoform 1]: Involved in lysine catabolism in the brain by mediating the conversion of L-aminoadipate-semialdehyde ((S)-2-amino-6-oxohexanoate) to L-2-aminoadipate. {ECO:0000269|PubMed:16491085, ECO:0000269|PubMed:20207735}.; FUNCTION: [Isoform 2]: Acts as a key inhibitor of ferroptosis both by generating membrane NADH and decreasing the level of reactive aldehydes (PubMed:40233740). Recruited to plasma membrane in response to ferroptotic stress and phosphorylation by AMPK, generating membrane NADH to support AIFM2/FSP1 activity, an essential ferroptosis suppressor protein (PubMed:40233740). Also directly inhibits ferroptosis by decreasing lipid peroxidation via consumption of reactive aldehydes, such as 4-hydroxynonenal (4-HNE) and malonaldehyde (PubMed:40233740). Also acts as a regulator of cellular energy homeostasis in response to cellular energy stress, such as starvation and hypoxia, by inhibiting COPI-mediated intracellular transport, thereby reducing cellular energy consumption (PubMed:31492851). {ECO:0000269|PubMed:31492851, ECO:0000269|PubMed:40233740}.
uniprot
proteins
mass_dalton
58487
uniprot
proteins
mutagenesis
MUTAGEN 130; /note="S->A: Abolished phosphorylation by AMPK and recruitment to membranes."; /evidence="ECO:0000269|PubMed:40233740"; MUTAGEN 130; /note="S->D: Mimics phosphorylation; promoting plasma membrane recruitment and ability to generate membrane NADH."; /evidence="ECO:0000269|PubMed:40233740"; MUTAGEN 174; /note="S->A: Does not affect phosphorylation by AMPK and recruitment to membranes."; /evidence="ECO:0000269|PubMed:40233740"; MUTAGEN 296; /note="E->Q: Abolished aldehyde dehydrogenase activity, leading to decreased levels of membrane NADH."; /evidence="ECO:0000269|PubMed:40233740
uniprot
proteins
pathway_participation
PATHWAY: Amine and polyamine biosynthesis; betaine biosynthesis via choline pathway; betaine from betaine aldehyde: step 1/1. {ECO:0000269|PubMed:16491085, ECO:0000305|PubMed:20207735}.
uniprot
proteins
post_translational_modification
PTM: [Isoform 2]: Phosphorylation at Ser-102 by AMPK in response to cellular stress, such as hypoxia or ferroptotic stress, promotes membrane localization and generation of membrane NADH. {ECO:0000269|PubMed:31492851, ECO:0000269|PubMed:40233740}.
uniprot
proteins
protein_family
Aldehyde dehydrogenase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16491085
uniprot
proteins
pubmed
17068770
uniprot
proteins
pubmed
19128417
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20207735
uniprot
proteins
pubmed
20554659
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21338592
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25554827
uniprot
proteins
pubmed
26232297
uniprot
proteins
pubmed
26260980
uniprot
proteins
pubmed
31302938
uniprot
proteins
pubmed
31492851
uniprot
proteins
pubmed
31652343
uniprot
proteins
pubmed
38604394
uniprot
proteins
pubmed
40233740
uniprot
proteins
pubmed
8088832
uniprot
proteins
pubmed
9417906
uniprot
proteins
sequence_length
539
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Mitochondrion {ECO:0000269|PubMed:20207735}.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm, cytosol {ECO:0000269|PubMed:20207735, ECO:0000269|PubMed:31492851}. Cell membrane {ECO:0000269|PubMed:31492851, ECO:0000269|PubMed:40233740}. Golgi apparatus membrane {ECO:0000269|PubMed:31492851}. Nucleus {ECO:0000269|PubMed:20207735}. Note=Translocates to membranes in response to cellular stress and phosphorylation by AMPK. {ECO:0000269|PubMed:31492851, ECO:0000269|PubMed:40233740}.
uniprot
proteins