Query author contributions in Reactome
Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.
If you have an ORCID ID that is not listed on this page, please forward this information to us and we will update your Reactome pathway records.
Details on Person UniProt:P05091 ALDH2
| Class:Id | ReferenceGeneProduct:53598 |
|---|---|
| _chainChangeLog | transit peptide:1-17 added on Sat February 7 2015;chain:18-517 added on Sat February 7 2015 |
| _displayName | UniProt:P05091 ALDH2 |
| _timestamp | 2025-02-21 19:15:17 |
| chain | transit peptide:1-17 chain:18-517 |
| checksum | E8F74D44D285A00E |
| comment | FUNCTION Required for clearance of cellular formaldehyde, a cytotoxic and carcinogenic metabolite that induces DNA damage.CATALYTIC ACTIVITY an aldehyde + NAD(+) + H2O = a carboxylate + NADH + 2 H(+)PATHWAY Alcohol metabolism; ethanol degradation; acetate from ethanol: step 2/2.SUBUNIT Homotetramer.SUBCELLULAR LOCATION In response to mitochondrial stress, the precursor protein is ubiquitinated by the SIFI complex in the cytoplasm before mitochondrial import, leading to its degradation (PubMed:38297121). Within the SIFI complex, UBR4 initiates ubiquitin chain that are further elongated or branched by KCMF1 (PubMed:38297121).POLYMORPHISM Genetic variation in ALDH2 is responsible for individual differences in responses to drinking alcohol [MIM:610251]. Allele ALDH2*2 is associated with a very high incidence of acute alcohol intoxication in Orientals and South American Indians, as compared to Caucasians.DISEASE The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. AMEDS patients carry ADH5 biallelic variants and homozygous or heterozygous ALDH2 variant p.Glu504Lys, affecting protein activity. Cellular and animal studies demonstrate that the simultaneous loss of ALDH2 and ADH5 activities leads to an increase of cellular formaldehyde sensitivity and multisystem abnormalities including hematopoietic failure.SIMILARITY Belongs to the aldehyde dehydrogenase family. |
| description | recommendedName: Aldehyde dehydrogenase, mitochondrial ecNumber: 1.2.1.3 alternativeName: ALDH class 2 alternativeName: ALDH-E2 alternativeName: ALDHI |
| geneName | ALDH2 ALDM |
| identifier | P05091 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acetylation Alternative splicing Direct protein sequencing Disease variant Dwarfism Intellectual disability Mitochondrion NAD Oxidoreductase Proteomics identification Reference proteome Transit peptide Ubl conjugation |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 |
| name | ALDH2 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8957714] ENSEMBL:ENSG00000111275 ALDH2 [Homo sapiens] |
| secondaryIdentifier | ALDH2_HUMAN B4DW54 E7EUE5 Q03639 Q6IB13 Q6IV71 |
| sequenceLength | 517 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:8973161] UniProt:P05091-1 ALDH2 [Homo sapiens] [ReferenceIsoform:8973162] UniProt:P05091-2 ALDH2 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:71718] ALDH2 [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:8958457] ALDH2 [extracellular region] [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:P05091 ALDH2 (53598)
