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Details on Person UniProt:P49419 ALDH7A1

Class:Id	ReferenceGeneProduct:53385
_chainChangeLog	transit peptide:1-26 added on Fri February 6 2015;chain:27-539 added on Fri February 6 2015;initiator methionine: for 53385 added on Sun February 16 2020;initiator methionine: for 53385 removed on Fri Aug 15 2025;initiator methionine:1 for 53385 added on Fri Aug 15 2025
_displayName	UniProt:P49419 ALDH7A1
_timestamp	2026-02-20 23:02:55
chain	transit peptide:1-26 chain:27-539 initiator methionine:1
checksum	05385562F71312B6
comment	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).FUNCTION Involved in lysine catabolism in the brain by mediating the conversion of L-aminoadipate-semialdehyde ((S)-2-amino-6-oxohexanoate) to L-2-aminoadipate.FUNCTION 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).CATALYTIC ACTIVITY (S)-2-amino-6-oxohexanoate + NAD(+) + H2O = L-2-aminoadipate + NADH + 2 H(+)CATALYTIC ACTIVITY nonanal + NAD(+) + H2O = nonanoate + NADH + 2 H(+)CATALYTIC ACTIVITY betaine aldehyde + NAD(+) + H2O = glycine betaine + NADH + 2 H(+)CATALYTIC ACTIVITY an aldehyde + NAD(+) + H2O = a carboxylate + NADH + 2 H(+)CATALYTIC ACTIVITY hexanal + NAD(+) + H2O = hexanoate + NADH + 2 H(+)CATALYTIC ACTIVITY octanal + NAD(+) + H2O = octanoate + NADH + 2 H(+)CATALYTIC ACTIVITY (E)-non-2-enal + NAD(+) + H2O = (E)-non-2-enoate + NADH + 2 H(+)CATALYTIC ACTIVITY (E)-4-hydroxynon-2-enal + NAD(+) + H2O = (E)-4-hydroxynon-2-enoate + NADH + 2 H(+)CATALYTIC ACTIVITY malonaldehyde + NAD(+) + H2O = 3-oxopropanoate + NADH + 2 H(+)ACTIVITY REGULATION Inhibited by 4-diethylaminobenzaldehyde (DEAB); inhibition is irreversible via formation of a stable covalent acyl-enzyme stalled intermediate.BIOPHYSICOCHEMICAL PROPERTIES Amine and polyamine biosynthesis; betaine biosynthesis via choline pathway; betaine from betaine aldehyde: step 1/1.SUBUNIT Homotetramer.INTERACTION Translocates to membranes in response to cellular stress and phosphorylation by AMPK.ALTERNATIVE PRODUCTS Abundant in hepatoma cells and fetal cochlea, ovary, eye, heart, adrenal gland, liver and kidney. Low levels present in adult peripheral blood leukocytes and fetal brain, thymus, spleen, skeletal muscle, lung and tongue.PTM 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.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the aldehyde dehydrogenase family.SEQUENCE CAUTION Truncated N-terminus.SEQUENCE CAUTION Truncated N-terminus.SEQUENCE CAUTION Truncated N-terminus.SEQUENCE CAUTION Truncated N-terminus.SEQUENCE CAUTION Aberrant splicing.SEQUENCE CAUTION Extended N-terminus.
description	recommendedName: fullName evidence="29"Alpha-aminoadipic semialdehyde dehydrogenase shortName evidence="28"Alpha-AASA dehydrogenase ecNumber evidence="6 9 10"1.2.1.31 alternativeName: Aldehyde dehydrogenase family 7 member A1 ecNumber evidence="9 11"1.2.1.3 alternativeName: fullName evidence="26"Antiquitin-1 alternativeName: Betaine aldehyde dehydrogenase ecNumber evidence="9"1.2.1.8 alternativeName: Delta1-piperideine-6-carboxylate dehydrogenase shortName: P6c dehydrogenase
geneName	ALDH7A1 ATQ1
identifier	P49419
isSequenceChanged	FALSE
keyword	3D-structure Acetylation Alternative splicing Cell membrane Cytoplasm Disease variant Epilepsy Golgi apparatus Membrane Mitochondrion NAD Nucleus Oxidoreductase Phosphoprotein Proteomics identification Reference proteome Transit peptide
modified	[InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 [InstanceEdit:9963647] Weiser, Joel, 2025-08-15 [InstanceEdit:9983091] Weiser, Joel, 2026-02-20
name	ALDH7A1
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:8999311] ENSEMBL:ENSG00000164904 ALDH7A1 [Homo sapiens]
secondaryIdentifier	AL7A1_HUMAN B2R669 B4DIC7 B4DMA0 E7EPT3 O14619 Q6IPU8 Q9BUL4
sequenceLength	539
species	[Species:48887] Homo sapiens
(isoformParent)	[ReferenceIsoform:8965962] UniProt:P49419-1 ALDH7A1 [Homo sapiens] [ReferenceIsoform:8965963] UniProt:P49419-2 ALDH7A1 [Homo sapiens] [ReferenceIsoform:8965964] UniProt:P49419-4 ALDH7A1 [Homo sapiens]
(referenceEntity)	[EntityWithAccessionedSequence:508562] ALDH7A1 [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by UniProt:P49419 ALDH7A1 (53385)