Gene/Proteome Database (LMPD)
LMPD ID
LMP002629
Gene ID
Species
Homo sapiens (Human)
Gene Name
aldehyde dehydrogenase 2 family (mitochondrial)
Gene Symbol
Synonyms
ALDH-E2; ALDHI; ALDM
Alternate Names
aldehyde dehydrogenase, mitochondrial; ALDH class 2; liver mitochondrial ALDH; acetaldehyde dehydrogenase 2; nucleus-encoded mitochondrial aldehyde dehydrogenase 2
Chromosome
12
Map Location
12q24.2
EC Number
1.2.1.3
Summary
This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of Orientals have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among Orientals than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2011]
Orthologs
Proteins
| aldehyde dehydrogenase, mitochondrial isoform 1 precursor | |
|---|---|
| Refseq ID | NP_000681 |
| Protein GI | 25777732 |
| UniProt ID | P05091 |
| mRNA ID | NM_000690 |
| Length | 517 |
| RefSeq Status | REVIEWED |
| MLRAAARFGPRLGRRLLSAAATQAVPAPNQQPEVFCNQIFINNEWHDAVSRKTFPTVNPSTGEVICQVAEGDKEDVDKAVKAARAAFQLGSPWRRMDASHRGRLLNRLADLIERDRTYLAALETLDNGKPYVISYLVDLDMVLKCLRYYAGWADKYHGKTIPIDGDFFSYTRHEPVGVCGQIIPWNFPLLMQAWKLGPALATGNVVVMKVAEQTPLTALYVANLIKEAGFPPGVVNIVPGFGPTAGAAIASHEDVDKVAFTGSTEIGRVIQVAAGSSNLKRVTLELGGKSPNIIMSDADMDWAVEQAHFALFFNQGQCCCAGSRTFVQEDIYDEFVERSVARAKSRVVGNPFDSKTEQGPQVDETQFKKILGYINTGKQEGAKLLCGGGIAADRGYFIQPTVFGDVQDGMTIAKEEIFGPVMQILKFKTIEEVVGRANNSTYGLAAAVFTKDLDKANYLSQALQAGTVWVNCYDVFGAQSPFGGYKMSGSGRELGEYGLQAYTEVKTVTVKVPQKNS | |
| aldehyde dehydrogenase, mitochondrial isoform 2 precursor | |
|---|---|
| Refseq ID | NP_001191818 |
| Protein GI | 25777732 |
| UniProt ID | P05091 |
| mRNA ID | NM_001204889 |
| Length | 517 |
| RefSeq Status | REVIEWED |
| MLRAAARFGPRLGRRLLSAAATQAVPAPNQQPEVFCNQIFINNEWHDAVSRKTFPTVNPSTGEVICQVAEGDKEDVDKAVKAARAAFQLGSPWRRMDASHRGRLLNRLADLIERDRTYLAALETLDNGKPYVISYLVDLDMVLKCLRYYAGWADKYHGKTIPIDGDFFSYTRHEPVGVCGQIIPWNFPLLMQAWKLGPALATGNVVVMKVAEQTPLTALYVANLIKEAGFPPGVVNIVPGFGPTAGAAIASHEDVDKVAFTGSTEIGRVIQVAAGSSNLKRVTLELGGKSPNIIMSDADMDWAVEQAHFALFFNQGQCCCAGSRTFVQEDIYDEFVERSVARAKSRVVGNPFDSKTEQGPQVDETQFKKILGYINTGKQEGAKLLCGGGIAADRGYFIQPTVFGDVQDGMTIAKEEIFGPVMQILKFKTIEEVVGRANNSTYGLAAAVFTKDLDKANYLSQALQAGTVWVNCYDVFGAQSPFGGYKMSGSGRELGEYGLQAYTEVKTVTVKVPQKNS | |
| transit_peptide: 1..17 calculated_mol_wt: 1954 peptide sequence: MLRAAARFGPRLGRRLL mat_peptide: 18..517 product: aldehyde dehydrogenase, mitochondrial isoform 1 calculated_mol_wt: 54445 peptide sequence: SAAATQAVPAPNQQPEVFCNQIFINNEWHDAVSRKTFPTVNPSTGEVICQVAEGDKEDVDKAVKAARAAFQLGSPWRRMDASHRGRLLNRLADLIERDRTYLAALETLDNGKPYVISYLVDLDMVLKCLRYYAGWADKYHGKTIPIDGDFFSYTRHEPVGVCGQIIPWNFPLLMQAWKLGPALATGNVVVMKVAEQTPLTALYVANLIKEAGFPPGVVNIVPGFGPTAGAAIASHEDVDKVAFTGSTEIGRVIQVAAGSSNLKRVTLELGGKSPNIIMSDADMDWAVEQAHFALFFNQGQCCCAGSRTFVQEDIYDEFVERSVARAKSRVVGNPFDSKTEQGPQVDETQFKKILGYINTGKQEGAKLLCGGGIAADRGYFIQPTVFGDVQDGMTIAKEEIFGPVMQILKFKTIEEVVGRANNSTYGLAAAVFTKDLDKANYLSQALQAGTVWVNCYDVFGAQSPFGGYKMSGSGRELGEYGLQAYTEVKTVTVKVPQKNS transit_peptide: 1..17 calculated_mol_wt: 1954 peptide sequence: MLRAAARFGPRLGRRLL mat_peptide: 18..470 product: aldehyde dehydrogenase, mitochondrial isoform 2 calculated_mol_wt: 49053 peptide sequence: SAAATQAVPAPNQQPEVFCNQIFINNEWHDAVSRKTFPTVNPSTGEVICQVAEGDKALETLDNGKPYVISYLVDLDMVLKCLRYYAGWADKYHGKTIPIDGDFFSYTRHEPVGVCGQIIPWNFPLLMQAWKLGPALATGNVVVMKVAEQTPLTALYVANLIKEAGFPPGVVNIVPGFGPTAGAAIASHEDVDKVAFTGSTEIGRVIQVAAGSSNLKRVTLELGGKSPNIIMSDADMDWAVEQAHFALFFNQGQCCCAGSRTFVQEDIYDEFVERSVARAKSRVVGNPFDSKTEQGPQVDETQFKKILGYINTGKQEGAKLLCGGGIAADRGYFIQPTVFGDVQDGMTIAKEEIFGPVMQILKFKTIEEVVGRANNSTYGLAAAVFTKDLDKANYLSQALQAGTVWVNCYDVFGAQSPFGGYKMSGSGRELGEYGLQAYTEVKTVTVKVPQKNS | |
Gene Information
Entrez Gene ID
Gene Name
aldehyde dehydrogenase 2 family (mitochondrial)
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0070062 | IDA:UniProt | C | extracellular vesicular exosome |
| GO:0005759 | TAS:Reactome | C | mitochondrial matrix |
| GO:0004029 | EXP:Reactome | F | aldehyde dehydrogenase (NAD) activity |
| GO:0004030 | TAS:ProtInc | F | aldehyde dehydrogenase [NAD(P)+] activity |
| GO:0009055 | TAS:UniProtKB | F | electron carrier activity |
| GO:0006066 | TAS:ProtInc | P | alcohol metabolic process |
| GO:0005975 | TAS:ProtInc | P | carbohydrate metabolic process |
| GO:0006068 | IEA:UniProtKB-UniPathway | P | ethanol catabolic process |
| GO:0006069 | TAS:Reactome | P | ethanol oxidation |
| GO:0042136 | TAS:Reactome | P | neurotransmitter biosynthetic process |
| GO:0044281 | TAS:Reactome | P | small molecule metabolic process |
| GO:0007268 | TAS:Reactome | P | synaptic transmission |
| GO:0006805 | TAS:Reactome | P | xenobiotic metabolic process |
KEGG Pathway Links
| KEGG Pathway ID | Description |
|---|---|
| hsa00010 | Glycolysis / Gluconeogenesis |
BIOCYC Pathway Links
Domain Information
InterPro Annotations
| Accession | Description |
|---|---|
| IPR016162 | Aldehyde dehydrogenase N-terminal domain |
| IPR015590 | Aldehyde dehydrogenase domain |
| IPR016163 | Aldehyde dehydrogenase, C-terminal |
| IPR016160 | Aldehyde dehydrogenase, cysteine active site |
| IPR029510 | Aldehyde dehydrogenase, glutamic acid active site |
| IPR016161 | Aldehyde/histidinol dehydrogenase |
UniProt Annotations
Entry Information
Gene Name
aldehyde dehydrogenase 2 family (mitochondrial)
Protein Entry
ALDH2_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P05091-1; Sequence=Displayed; Name=2; IsoId=P05091-2; Sequence=VSP_046715; Note=No experimental confirmation available.; |
| Catalytic Activity | An aldehyde + NAD(+) + H(2)O = a carboxylate + NADH. |
| Pathway | Alcohol metabolism; ethanol degradation; acetate from ethanol: step 2/2. |
| Polymorphism | Genetic variation in ALDH2 is responsible for individual differences in responses to drinking alcohol [MIM |
| Sequence Caution | Sequence=AAA62825.1; Type=Frameshift; Positions=424, 444, 448, 461; Evidence= ; Sequence=CAA68290.1; Type=Frameshift; Positions=Several; Evidence= ; Sequence=CAA68290.1; Type=Miscellaneous discrepancy; Evidence= ; |
| Similarity | Belongs to the aldehyde dehydrogenase family. |
| Subcellular Location | Mitochondrion matrix. |
| Subunit | Homotetramer. |
| Web Resource | Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ALDH2ID250.html"; |
Identical and Related Proteins
Unique RefSeq proteins for LMP002629 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 25777732 | RefSeq | NP_000681 | 517 | aldehyde dehydrogenase, mitochondrial isoform 1 precursor |
| 25777732 | RefSeq | NP_001191818 | 517 | aldehyde dehydrogenase, mitochondrial isoform 2 precursor |
Identical Sequences to LMP002629 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:25777732 | GenBank | AGD90957.1 | 517 | Sequence 1 from patent US 8354435 |
| GI:25777732 | GenBank | AGD90957.1 | 517 | Sequence 1 from patent US 8354435 |
| GI:25777732 | GenBank | AGM85138.1 | 517 | Sequence 1 from patent US 8389522 |
| GI:25777732 | GenBank | AGM85138.1 | 517 | Sequence 1 from patent US 8389522 |
| GI:25777732 | GenBank | AGO72387.1 | 517 | Sequence 65 from patent US 8470972 |
| GI:25777732 | GenBank | AGO72387.1 | 517 | Sequence 65 from patent US 8470972 |
| GI:25777732 | GenBank | AGU32378.1 | 517 | Sequence 65 from patent US 8507277 |
| GI:25777732 | GenBank | AGU32378.1 | 517 | Sequence 65 from patent US 8507277 |
| GI:25777732 | GenBank | AGX48282.1 | 517 | Sequence 65 from patent US 8541550 |
| GI:25777732 | GenBank | AGX48282.1 | 517 | Sequence 65 from patent US 8541550 |
| GI:25777732 | GenBank | AIC48246.1 | 517 | ALDH2, partial [synthetic construct] |
| GI:25777732 | GenBank | AIC48246.1 | 517 | ALDH2, partial [synthetic construct] |
Related Sequences to LMP002629 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:25777732 | DBBJ | BAD97093.1 | 517 | mitochondrial aldehyde dehydrogenase 2 precursor variant, partial [Homo sapiens] |
| GI:25777732 | DBBJ | BAD97093.1 | 517 | mitochondrial aldehyde dehydrogenase 2 precursor variant, partial [Homo sapiens] |
| GI:25777732 | GenBank | AAA51693.1 | 517 | aldehyde dehydrogenase [Homo sapiens] |
| GI:25777732 | GenBank | AAA51693.1 | 517 | aldehyde dehydrogenase [Homo sapiens] |
| GI:25777732 | GenBank | AAP36614.1 | 518 | Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial), partial [synthetic construct] |
| GI:25777732 | GenBank | AAP36614.1 | 518 | Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial), partial [synthetic construct] |
| GI:25777732 | GenBank | AAT41621.1 | 517 | mitochondrial aldehyde dehydrogenase 2 [Homo sapiens] |
| GI:25777732 | GenBank | AAT41621.1 | 517 | mitochondrial aldehyde dehydrogenase 2 [Homo sapiens] |
| GI:25777732 | GenBank | AAX43951.1 | 518 | aldehyde dehydrogenase 2 family, partial [synthetic construct] |
| GI:25777732 | GenBank | AAX43951.1 | 518 | aldehyde dehydrogenase 2 family, partial [synthetic construct] |
| GI:25777732 | GenBank | ACM85155.1 | 520 | Sequence 10653 from patent US 6812339 |
| GI:25777732 | GenBank | ACM85155.1 | 520 | Sequence 10653 from patent US 6812339 |