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This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
ALDH1A3 (Aldehyde Dehydrogenase 1 Family Member A3) is a Protein Coding gene. Diseases associated with ALDH1A3 include Microphthalmia, Isolated 8 and Microphthalmia. Among its related pathways are Signaling by GPCR and Drug metabolism - cytochrome P450. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and aldehyde dehydrogenase (NAD) activity. An important paralog of this gene is ALDH1A2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001758 | retinal dehydrogenase activity | IEA,IDA | 27759097 |
GO:0004029 | aldehyde dehydrogenase (NAD) activity | IBA | 21873635 |
GO:0004030 | aldehyde dehydrogenase [NAD(P)+] activity | IDA | 11585737 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0016620 | oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IDA | 11585737 |
GO:0005829 | cytosol | TAS | -- |
GO:0070062 | extracellular exosome | HDA | 23533145 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Drug metabolism - cytochrome P450 |
Retinol metabolism
.31
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2 | Signaling by Retinoic Acid | ||
3 | Metabolism | ||
4 | Signaling by GPCR | ||
5 | retinoate biosynthesis II |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002072 | optic cup morphogenesis involved in camera-type eye development | IEA | -- |
GO:0002138 | retinoic acid biosynthetic process | IDA | 27759097 |
GO:0007626 | locomotory behavior | IEA | -- |
GO:0021768 | nucleus accumbens development | IEA | -- |
GO:0031076 | embryonic camera-type eye development | ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
NADH | Approved | Nutra | Target | 0 | ||
Vitamin A | Approved, Vet_approved | Nutra | Target, substrate | 732 | ||
acetic acid | Approved | Pharma | 148 | |||
Chloral hydrate | Approved, Illicit, Investigational, Vet_approved | Pharma | 18 | |||
gamma-Aminobutyric acid | Approved, Investigational | Pharma | 29 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
(S)-Methylmalonic acid semialdehyde |
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99043-16-0 |
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2-Propyn-1-al |
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3,4-Dihydroxymandelaldehyde |
|
13023-73-9 |
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3,4-Dihydroxymandelic acid |
|
775-01-9 |
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|||
3,4-Dihydroxyphenylacetaldehyde |
|
5707-55-1 |
|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||
SP2: | - | - | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ALDH1A3 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ALDH1A3 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ALDH1A3 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ALDH1A3 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ALDH1A3 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Aldh1a3 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Aldh1a3 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ALDH6 31 |
|
OneToOne | |
ALDH1A3 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | ALDH1A3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | aldh1a3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | aldh1a3 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG3752 32 |
|
|
|
Aldh 31 |
|
OneToMany | |||
Wheat (Triticum aestivum) |
Liliopsida | Ta.25596 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8824 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
978214 | Pathogenic: Isolated anophthalmia-microphthalmia syndrome | 100,887,654(+) |
G/A NM_000693.4(ALDH1A3):c.287G>A (p.Arg96His) |
MISSENSE | |
978215 | Pathogenic: Isolated anophthalmia-microphthalmia syndrome | 100,895,975(+) |
G/A NM_000693.4(ALDH1A3):c.709G>A (p.Gly237Arg) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
rs112582857 | Benign: Microphthalmia, isolated 8 | 100,905,588(+) |
G/A NM_000693.4(ALDH1A3):c.1134G>A (p.Lys378=) |
SYNONYMOUS | |
rs1130737 | Benign/Likely Benign: Microphthalmia, isolated 8; not provided | 100,879,950(+) |
A/G NM_000693.4(ALDH1A3):c.43A>G (p.Arg15Gly) |
MISSENSE | |
rs113661159 | Likely Benign: Microphthalmia, isolated 8 | 100,905,597(+) |
C/T NM_000693.4(ALDH1A3):c.1143C>T (p.Cys381=) |
SYNONYMOUS |
Disorder | Aliases | PubMed IDs |
---|---|---|
microphthalmia, isolated 8 |
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microphthalmia |
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isolated microphthalmia |
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ras-associated autoimmune leukoproliferative disorder |
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choanal atresia, posterior |
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