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Protein

Aldehyde dehydrogenase, mitochondrial

Gene

ALDH2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: ethanol degradation

This protein is involved in step 2 of the subpathway that synthesizes acetate from ethanol.
Proteins known to be involved in the 2 steps of the subpathway in this organism are:
  1. no protein annotated in this organism
  2. Aldehyde dehydrogenase X, mitochondrial (ALDH1B1), Aldehyde dehydrogenase family 3 member B1 (ALDH3B1), Aldehyde dehydrogenase family 3 member B2 (ALDH3B2), Aldehyde dehydrogenase, mitochondrial (ALDH2)
This subpathway is part of the pathway ethanol degradation, which is itself part of Alcohol metabolism.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes acetate from ethanol, the pathway ethanol degradation and in Alcohol metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei186Transition state stabilizerBy similarity1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei285Proton acceptor1
Active sitei319Nucleophile1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi262 – 267NADBy similarity6

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • aldehyde dehydrogenase (NAD) activity Source: CACAO
  • aldehyde dehydrogenase [NAD(P)+] activity Source: ProtInc
  • electron transfer activity Source: UniProtKB
  • glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity Source: UniProtKB-EC
  • NAD binding Source: CAFA

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionOxidoreductase
LigandNAD

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:MONOMER66-302

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.2.1.3 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-380612 Metabolism of serotonin
R-HSA-71384 Ethanol oxidation

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
P05091

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00780;UER00768

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Aldehyde dehydrogenase, mitochondrial (EC:1.2.1.3)
Alternative name(s):
ALDH class 2
ALDH-E2
ALDHI
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ALDH2
Synonyms:ALDM
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000111275.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:404 ALDH2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
100650 gene+phenotype

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P05091

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
217

MalaCards human disease database

More...
MalaCardsi
ALDH2
MIMi100650 gene+phenotype
610251 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000111275

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24696

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL1935

Drug and drug target database

More...
DrugBanki
DB01612 Amyl Nitrite
DB06770 Benzyl alcohol
DB04381 Crotonaldehyde
DB02115 Daidzin
DB00822 Disulfiram
DB00536 Guanidine
DB00157 NADH
DB00435 Nitric Oxide
DB00727 Nitroglycerin

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
2595

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ALDH2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
118504

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 17MitochondrionAdd BLAST17
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000716818 – 517Aldehyde dehydrogenase, mitochondrialAdd BLAST500

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei52N6-acetyllysineBy similarity1
Modified residuei73N6-acetyllysineBy similarity1
Modified residuei78N6-acetyllysineBy similarity1
Modified residuei159N6-acetyllysineBy similarity1
Modified residuei368N6-acetyllysineBy similarity1
Modified residuei383N6-acetyllysineBy similarity1
Modified residuei426N6-acetyllysineBy similarity1
Modified residuei428N6-acetyllysineBy similarity1
Modified residuei451N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P05091

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P05091

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P05091

PeptideAtlas

More...
PeptideAtlasi
P05091

PRoteomics IDEntifications database

More...
PRIDEi
P05091

ProteomicsDB human proteome resource

More...
ProteomicsDBi
51788

2D gel databases

REPRODUCTION-2DPAGE

More...
REPRODUCTION-2DPAGEi
IPI00006663
P05091

University College Dublin 2-DE Proteome Database

More...
UCD-2DPAGEi
P05091

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P05091

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P05091

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P05091

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000111275 Expressed in 231 organ(s), highest expression level in liver

CleanEx database of gene expression profiles

More...
CleanExi
HS_ALDH2

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P05091 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P05091 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA051065

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homotetramer.

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
106719, 52 interactors

Database of interacting proteins

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DIPi
DIP-40262N

Protein interaction database and analysis system

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IntActi
P05091, 23 interactors

Molecular INTeraction database

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MINTi
P05091

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000261733

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P05091

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1517
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P05091

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P05091

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P05091

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the aldehyde dehydrogenase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2450 Eukaryota
COG1012 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156240

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000271505

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG000097

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P05091

KEGG Orthology (KO)

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KOi
K00128

Identification of Orthologs from Complete Genome Data

More...
OMAi
TFVQEDV

Database of Orthologous Groups

More...
OrthoDBi
EOG091G05E8

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P05091

TreeFam database of animal gene trees

More...
TreeFami
TF300455

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.309.10, 1 hit
3.40.605.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR016161 Ald_DH/histidinol_DH
IPR016163 Ald_DH_C
IPR016160 Ald_DH_CS_CYS
IPR029510 Ald_DH_CS_GLU
IPR016162 Ald_DH_N
IPR015590 Aldehyde_DH_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00171 Aldedh, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53720 SSF53720, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00070 ALDEHYDE_DEHYDR_CYS, 1 hit
PS00687 ALDEHYDE_DEHYDR_GLU, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P05091-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLRAAARFGP RLGRRLLSAA ATQAVPAPNQ QPEVFCNQIF INNEWHDAVS
60 70 80 90 100
RKTFPTVNPS TGEVICQVAE GDKEDVDKAV KAARAAFQLG SPWRRMDASH
110 120 130 140 150
RGRLLNRLAD LIERDRTYLA ALETLDNGKP YVISYLVDLD MVLKCLRYYA
160 170 180 190 200
GWADKYHGKT IPIDGDFFSY TRHEPVGVCG QIIPWNFPLL MQAWKLGPAL
210 220 230 240 250
ATGNVVVMKV AEQTPLTALY VANLIKEAGF PPGVVNIVPG FGPTAGAAIA
260 270 280 290 300
SHEDVDKVAF TGSTEIGRVI QVAAGSSNLK RVTLELGGKS PNIIMSDADM
310 320 330 340 350
DWAVEQAHFA LFFNQGQCCC AGSRTFVQED IYDEFVERSV ARAKSRVVGN
360 370 380 390 400
PFDSKTEQGP QVDETQFKKI LGYINTGKQE GAKLLCGGGI AADRGYFIQP
410 420 430 440 450
TVFGDVQDGM TIAKEEIFGP VMQILKFKTI EEVVGRANNS TYGLAAAVFT
460 470 480 490 500
KDLDKANYLS QALQAGTVWV NCYDVFGAQS PFGGYKMSGS GRELGEYGLQ
510
AYTEVKTVTV KVPQKNS
Length:517
Mass (Da):56,381
Last modified:January 1, 1990 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iE8F74D44D285A00E
GO
Isoform 2 (identifier: P05091-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     74-120: Missing.

Note: No experimental confirmation available.
Show »
Length:470
Mass (Da):50,989
Checksum:i5D232BE0405A5F2E
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
S4R3S4S4R3S4_HUMAN
Aldehyde dehydrogenase, mitochondri...
ALDH2
117Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8VSB0F8VSB0_HUMAN
Aldehyde dehydrogenase, mitochondri...
ALDH2
79Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAA62825 differs from that shown. Reason: Frameshift at positions 424, 444, 448 and 461.Curated
The sequence CAA68290 differs from that shown.Curated
The sequence CAA68290 differs from that shown. Reason: Frameshift at several positions.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti7 – 12RFGPRL → ARAPP in CAA28990 (PubMed:3582651).Curated6
Sequence conflicti18S → A AA sequence (PubMed:4065146).Curated1
Sequence conflicti60S → F in CAG33272 (Ref. 6) Curated1
Sequence conflicti80 – 85VKAARA → REGRPG in CAA28990 (PubMed:3582651).Curated6
Sequence conflicti101R → S in CAA28990 (PubMed:3582651).Curated1
Sequence conflicti116R → Q in AAT41621 (Ref. 5) Curated1
Sequence conflicti216L → S in AAA62825 (PubMed:3610592).Curated1
Sequence conflicti218A → R in AAA62825 (PubMed:3610592).Curated1
Sequence conflicti247A → P in AAA62825 (PubMed:3610592).Curated1
Sequence conflicti332Y → C in BAG62916 (PubMed:14702039).Curated1
Sequence conflicti362V → L in CAG33272 (Ref. 6) Curated1
Sequence conflicti380E → Q in AAA51693 (PubMed:2838413).Curated1

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Genetic variation in ALDH2 is responsible for individual differences in responses to drinking alcohol [MIMi: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.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_011869337E → V1 PublicationCorresponds to variant dbSNP:rs1062136Ensembl.1
Natural variantiVAR_011302496E → K in allele ALDH2*3. 1 PublicationCorresponds to variant dbSNP:rs769724893Ensembl.1
Natural variantiVAR_002248504E → K in allele ALDH2*2; drastic reduction of enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs671EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_04671574 – 120Missing in isoform 2. 1 PublicationAdd BLAST47

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
X05409 mRNA Translation: CAA28990.1
Y00109 mRNA Translation: CAA68290.1 Sequence problems.
M20456
, M20444, M20445, M20446, M20447, M20448, M20449, M20450, M20451, M20452, M20453, M20454 Genomic DNA Translation: AAA51693.1
AY621070 mRNA Translation: AAT41621.1
CR456991 mRNA Translation: CAG33272.1
AK301375 mRNA Translation: BAG62916.1
AC002996 Genomic DNA No translation available.
AC003029 Genomic DNA No translation available.
BC002967 mRNA Translation: AAH02967.1
BC071839 mRNA Translation: AAH71839.1
K03001 mRNA Translation: AAB59500.1
M26760 mRNA Translation: AAA51694.1
M54931 mRNA Translation: AAA62825.1 Frameshift.

The Consensus CDS (CCDS) project

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CCDSi
CCDS55885.1 [P05091-2]
CCDS9155.1 [P05091-1]

Protein sequence database of the Protein Information Resource

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PIRi
A29975 DEHUE2

NCBI Reference Sequences

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RefSeqi
NP_000681.2, NM_000690.3 [P05091-1]
NP_001191818.1, NM_001204889.1 [P05091-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.604551

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000261733; ENSP00000261733; ENSG00000111275 [P05091-1]
ENST00000416293; ENSP00000403349; ENSG00000111275 [P05091-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
217

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:217

UCSC genome browser

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UCSCi
uc001tst.4 human [P05091-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X05409 mRNA Translation: CAA28990.1
Y00109 mRNA Translation: CAA68290.1 Sequence problems.
M20456
, M20444, M20445, M20446, M20447, M20448, M20449, M20450, M20451, M20452, M20453, M20454 Genomic DNA Translation: AAA51693.1
AY621070 mRNA Translation: AAT41621.1
CR456991 mRNA Translation: CAG33272.1
AK301375 mRNA Translation: BAG62916.1
AC002996 Genomic DNA No translation available.
AC003029 Genomic DNA No translation available.
BC002967 mRNA Translation: AAH02967.1
BC071839 mRNA Translation: AAH71839.1
K03001 mRNA Translation: AAB59500.1
M26760 mRNA Translation: AAA51694.1
M54931 mRNA Translation: AAA62825.1 Frameshift.
CCDSiCCDS55885.1 [P05091-2]
CCDS9155.1 [P05091-1]
PIRiA29975 DEHUE2
RefSeqiNP_000681.2, NM_000690.3 [P05091-1]
NP_001191818.1, NM_001204889.1 [P05091-2]
UniGeneiHs.604551

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1CW3X-ray2.58A/B/C/D/E/F/G/H24-517[»]
1NZWX-ray2.65A/B/C/D/E/F/G/H18-517[»]
1NZXX-ray2.45A/B/C/D/E/F/G/H18-517[»]
1NZZX-ray2.45A/B/C/D/E/F/G/H18-517[»]
1O00X-ray2.60A/B/C/D/E/F/G/H18-517[»]
1O01X-ray2.15A/B/C/D/E/F/G/H18-517[»]
1O02X-ray1.90A/B/C/D/E/F/G/H18-517[»]
1O04X-ray1.42A/B/C/D/E/F/G/H18-517[»]
1O05X-ray2.25A/B/C/D/E/F/G/H18-517[»]
1ZUMX-ray2.10A/B/C/D/E/F/G/H/I/J/K/L18-517[»]
2ONMX-ray2.50A/B/C/D/E/F/G/H/I/J/K/L18-517[»]
2ONNX-ray2.75A/B/C/D/E/F/G/H18-517[»]
2ONOX-ray2.15A/B/C/D/E/F/G/H18-517[»]
2ONPX-ray2.00A/B/C/D/E/F/G/H18-517[»]
2VLEX-ray2.40A/B/C/D/E/F/G/H24-517[»]
3INJX-ray1.69A/B/C/D/E/F/G/H18-517[»]
3INLX-ray1.86A/B/C/D/E/F/G/H18-517[»]
3N80X-ray1.50A/B/C/D/E/F/G/H18-517[»]
3N81X-ray1.70A/B/C/D/E/F/G/H18-517[»]
3N82X-ray2.25A/B/C/D/E/F/G/H18-517[»]
3N83X-ray1.90A/B/C/D/E/F/G/H18-517[»]
3SZ9X-ray2.10A/B/C/D/E/F/G/H18-517[»]
4FQFX-ray2.28A/B/C/D18-517[»]
4FR8X-ray2.20A/B/C/D/E/F/G/H18-517[»]
4KWFX-ray2.31A/B/C/D/E/F/G/H24-517[»]
4KWGX-ray2.10A/B/C/D/E/F/G/H24-517[»]
5L13X-ray2.40A/B/C/D/E/F/G/H1-517[»]
ProteinModelPortaliP05091
SMRiP05091
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106719, 52 interactors
DIPiDIP-40262N
IntActiP05091, 23 interactors
MINTiP05091
STRINGi9606.ENSP00000261733

Chemistry databases

BindingDBiP05091
ChEMBLiCHEMBL1935
DrugBankiDB01612 Amyl Nitrite
DB06770 Benzyl alcohol
DB04381 Crotonaldehyde
DB02115 Daidzin
DB00822 Disulfiram
DB00536 Guanidine
DB00157 NADH
DB00435 Nitric Oxide
DB00727 Nitroglycerin
GuidetoPHARMACOLOGYi2595

PTM databases

iPTMnetiP05091
PhosphoSitePlusiP05091
SwissPalmiP05091

Polymorphism and mutation databases

BioMutaiALDH2
DMDMi118504

2D gel databases

REPRODUCTION-2DPAGEiIPI00006663
P05091
UCD-2DPAGEiP05091

Proteomic databases

EPDiP05091
MaxQBiP05091
PaxDbiP05091
PeptideAtlasiP05091
PRIDEiP05091
ProteomicsDBi51788

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
217
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261733; ENSP00000261733; ENSG00000111275 [P05091-1]
ENST00000416293; ENSP00000403349; ENSG00000111275 [P05091-2]
GeneIDi217
KEGGihsa:217
UCSCiuc001tst.4 human [P05091-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
217
DisGeNETi217
EuPathDBiHostDB:ENSG00000111275.12

GeneCards: human genes, protein and diseases

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GeneCardsi
ALDH2
HGNCiHGNC:404 ALDH2
HPAiHPA051065
MalaCardsiALDH2
MIMi100650 gene+phenotype
610251 phenotype
neXtProtiNX_P05091
OpenTargetsiENSG00000111275
PharmGKBiPA24696

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2450 Eukaryota
COG1012 LUCA
GeneTreeiENSGT00940000156240
HOGENOMiHOG000271505
HOVERGENiHBG000097
InParanoidiP05091
KOiK00128
OMAiTFVQEDV
OrthoDBiEOG091G05E8
PhylomeDBiP05091
TreeFamiTF300455

Enzyme and pathway databases

UniPathwayi
UPA00780;UER00768

BioCyciMetaCyc:MONOMER66-302
BRENDAi1.2.1.3 2681
ReactomeiR-HSA-380612 Metabolism of serotonin
R-HSA-71384 Ethanol oxidation
SABIO-RKiP05091

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
ALDH2 human
EvolutionaryTraceiP05091

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ALDH2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
217

Protein Ontology

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PROi
PR:P05091

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000111275 Expressed in 231 organ(s), highest expression level in liver
CleanExiHS_ALDH2
ExpressionAtlasiP05091 baseline and differential
GenevisibleiP05091 HS

Family and domain databases

Gene3Di3.40.309.10, 1 hit
3.40.605.10, 1 hit
InterProiView protein in InterPro
IPR016161 Ald_DH/histidinol_DH
IPR016163 Ald_DH_C
IPR016160 Ald_DH_CS_CYS
IPR029510 Ald_DH_CS_GLU
IPR016162 Ald_DH_N
IPR015590 Aldehyde_DH_dom
PfamiView protein in Pfam
PF00171 Aldedh, 1 hit
SUPFAMiSSF53720 SSF53720, 1 hit
PROSITEiView protein in PROSITE
PS00070 ALDEHYDE_DEHYDR_CYS, 1 hit
PS00687 ALDEHYDE_DEHYDR_GLU, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiALDH2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P05091
Secondary accession number(s): B4DW54
, E7EUE5, Q03639, Q6IB13, Q6IV71
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 13, 1987
Last sequence update: January 1, 1990
Last modified: December 5, 2018
This is version 226 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
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