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Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. The enzyme encoded by this gene forms a cytoplasmic homodimer that preferentially oxidizes aromatic and medium-chain (6 carbons or more) saturated and unsaturated aldehyde substrates. It is thought to promote resistance to UV and 4-hydroxy-2-nonenal-induced oxidative damage in the cornea. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008]
ALDH3A1 (Aldehyde Dehydrogenase 3 Family Member A1) is a Protein Coding gene. Diseases associated with ALDH3A1 include Conjunctival Degeneration and Paranoid Schizophrenia. Among its related pathways are Drug metabolism - cytochrome P450 and Cyclophosphamide Pathway, Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and aldehyde dehydrogenase (NAD) activity. An important paralog of this gene is ALDH3A2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004028 | 3-chloroallyl aldehyde dehydrogenase activity | IBA | 21873635 |
GO:0004029 | aldehyde dehydrogenase (NAD) activity | IDA | 1737758 |
GO:0004030 | aldehyde dehydrogenase [NAD(P)+] activity | TAS | -- |
GO:0005515 | protein binding | IPI | 21044950 |
GO:0008106 | alcohol dehydrogenase (NADP+) activity | IDA | 1737758 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | HDA | 22664934 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005783 | endoplasmic reticulum | IDA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | plasma membrane | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Drug metabolism - cytochrome P450 | ||
2 | Phenylalanine metabolism |
Tyrosine metabolism p.1 (dopamine)
.32
|
|
3 | Metabolism |
.40
|
|
4 | Cyclophosphamide Pathway, Pharmacodynamics | ||
5 | Cytochrome P450 - arranged by substrate type |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001666 | response to hypoxia | IEA | -- |
GO:0006081 | cellular aldehyde metabolic process | IDA | 1737758 |
GO:0006805 | xenobiotic metabolic process | TAS | -- |
GO:0007568 | aging | IEA | -- |
GO:0007584 | response to nutrient | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
NADH | Approved | Nutra | Target | 0 | ||
Cyclophosphamide | Approved, Investigational | Pharma | Nitrogen mustard alkylating agent and prodrug. | 3824 | ||
Doxorubicin | Approved, Investigational | Pharma | Topo II inhibitor,immunosuppresive antineoplastic antibiotic | 2086 | ||
Fluorouracil | Approved | Pharma | RNA processing inhibitor and thymidylate synthase inhibitor | 2421 | ||
acetic acid | Approved | Pharma | 148 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Aldophosphamide |
|
|||||
Carboxyphosphamide |
|
|||||
3,4-Dihydroxymandelaldehyde |
|
13023-73-9 |
|
|||
3,4-Dihydroxymandelic acid |
|
775-01-9 |
|
|||
3,4-Dihydroxyphenylacetaldehyde |
|
5707-55-1 |
|
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | · | 6c | · | 6d | ^ | 7 | ^ | 8a | · | 8b | · | 8c | · | 8d | · | 8e | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | · | 11c | · | 11d | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP15: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP16: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP17: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP18: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP19: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP20: | - | - |
ExUns: | 12a | · | 12b | · | 12c | ^ | 13a | · | 13b | · | 13c | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||
SP3: | - | - | - | - | - | - | |||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||
SP6: | - | - | - | ||||||||||||||||||||
SP7: | - | ||||||||||||||||||||||
SP8: | |||||||||||||||||||||||
SP9: | |||||||||||||||||||||||
SP10: | |||||||||||||||||||||||
SP11: | |||||||||||||||||||||||
SP12: | - | ||||||||||||||||||||||
SP13: | - | ||||||||||||||||||||||
SP14: | |||||||||||||||||||||||
SP15: | |||||||||||||||||||||||
SP16: | |||||||||||||||||||||||
SP17: | |||||||||||||||||||||||
SP18: | |||||||||||||||||||||||
SP19: | |||||||||||||||||||||||
SP20: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ALDH3A1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ALDH3A1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ALDH3A1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Aldh3a1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Aldh3a1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ALDH3A1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | ALDH3A2 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | aldh3a2b 31 |
|
ManyToMany | |
aldh3a2a 31 |
|
ManyToMany | |||
aldh3a1 31 |
|
ManyToMany | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.864 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Aldh-III 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | alh-5 31 |
|
ManyToMany | |
alh-4 31 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | HFD1 31 33 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ALDH3H1 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os11g0186200 30 |
|
||
Os.5577 30 |
|
||||
Barley (Hordeum vulgare) |
Liliopsida | Hv.4281 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6683 31 |
|
ManyToMany | |
CSA.9635 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs116754663 | Benign: not provided | 19,744,989(-) |
C/T NM_000691.5(ALDH3A1):c.141G>A (p.Ala47=) |
SYNONYMOUS_VARIANT,INTRON | |
rs140108064 | Likely Benign: not provided | 19,741,203(-) |
C/T NM_000691.5(ALDH3A1):c.697G>A (p.Ala233Thr) |
MISSENSE | |
rs142078447 | Benign: not provided | 19,740,386(-) |
C/T NM_000691.5(ALDH3A1):c.899G>A (p.Gly300Asp) |
MISSENSE | |
rs144805447 | Benign: not provided | 19,740,352(-) |
G/A NM_000691.5(ALDH3A1):c.933C>T (p.Ala311=) |
SYNONYMOUS | |
rs201504992 | Likely Benign: not provided | 19,745,036(-) |
C/T NM_000691.5(ALDH3A1):c.94G>A (p.Ala32Thr) |
MISSENSE_VARIANT,INTRON |
Disorder | Aliases | PubMed IDs |
---|---|---|
conjunctival degeneration |
|
|
paranoid schizophrenia |
|
|
sjogren-larsson syndrome |
|
|
breast adenocarcinoma |
|
|
borna disease |
|
|