General information | DisProt: | DP00383 | Name: | Aldehyde dehydrogenase, mitochondrial | Synonym(s): | ALDH2_HUMAN
EC 1.2.1.3
ALDH class 2
ALDHI
ALDH2
ALDH-E2
| First appeared in release: | Release 3.0 (02/17/2006) | UniProt: | P05091 | UniGene: | Hs.632733 | SwissProt: | ALDH2_HUMAN | TrEMBL: | | NCBI (GI): | 118504 | Source organism: | Homo sapiens (Human) | Sequence length: | 500 | Percent disordered: | 9% | Homologues: | |
Native sequence |
10 20 30 40 50 60 | | | | | | SAAATQAVPA PNQQPEVFCN QIFINNEWHD AVSRKTFPTV NPSTGEVICQ VAEGDKEDVD - 60 KAVKAARAAF QLGSPWRRMD ASHRGRLLNR LADLIERDRT YLAALETLDN GKPYVISYLV - 120 DLDMVLKCLR YYAGWADKYH GKTIPIDGDF FSYTRHEPVG VCGQIIPWNF PLLMQAWKLG - 180 PALATGNVVV MKVAEQTPLT ALYVANLIKE AGFPPGVVNI VPGFGPTAGA AIASHEDVDK - 240 VAFTGSTEIG RVIQVAAGSS NLKRVTLELG GKSPNIIMSD ADMDWAVEQA HFALFFNQGQ - 300 CCCAGSRTFV QEDIYDEFVE RSVARAKSRV VGNPFDSKTE QGPQVDETQF KKILGYINTG - 360 KQEGAKLLCG GGIAADRGYF IQPTVFGDVQ DGMTIAKEEI FGPVMQILKF KTIEEVVGRA - 420 NNSTYGLAAA VFTKDLDKAN YLSQALQAGT VWVNCYDVFG AQSPFGGYKM SGSGRELGEY - 480 GLQAYTEVKT VTVKVPQKNS
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Functional narrative |
Involved in alcohol metabolism.
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Map of ordered and disordered regions |


Note: 'Mouse' over a region to see the start and stop residues. Click on a region to see detailed information.
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Region 1 | Type: | Disordered | Name: | | Location: | 244 - 272 | Length: | 29 | Region sequence: |
TGSTEIGRVIQVAAGSSNLKRVTLELGGK | Modification type: | Mutant
| PDB: | | Structural/functional type: | | Functional classes: | | Functional subclasses: | | Detection methods:
- X-ray crystallography
| References:
- Larson HN, Weiner H, Hurley TD. "Disruption of the coenzyme binding site and dimer interface revealed in the crystal structure of mitochondrial aldehyde dehydrogenase "Asian" variant." J Biol Chem. 2005; 280(34): 30550-6. PubMed: 15983043
| Comments:
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Region 2 | Type: | Disordered | Name: | | Location: | 424 - 425 | Length: | 2 | Region sequence: |
TY | Modification type: | Mutant
| PDB: | | Structural/functional type: | | Functional classes: | | Functional subclasses: | | Detection methods:
- X-ray crystallography
| References:
- Larson HN, Weiner H, Hurley TD. "Disruption of the coenzyme binding site and dimer interface revealed in the crystal structure of mitochondrial aldehyde dehydrogenase "Asian" variant." J Biol Chem. 2005; 280(34): 30550-6. PubMed: 15983043
| Comments:
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Region 3 | Type: | Disordered | Name: | | Location: | 463 - 478 | Length: | 16 | Region sequence: |
SPFGGYKMSGSGRELG | Modification type: | Mutant
| PDB: | | Structural/functional type: | | Functional classes: | | Functional subclasses: | | Detection methods:
- X-ray crystallography
| References:
- Larson HN, Weiner H, Hurley TD. "Disruption of the coenzyme binding site and dimer interface revealed in the crystal structure of mitochondrial aldehyde dehydrogenase "Asian" variant." J Biol Chem. 2005; 280(34): 30550-6. PubMed: 15983043
| Comments:
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Comments |
The sequence listed in NCBI and SwissProt is for the precursor and contains 17 additional residues at the N-terminal.
The disordered regions are only present in the Asian Variant (ALDH2*2) of ALDH2. This variant has an E487K mutation.
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