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Aliases for ALDH1A3 Gene

Aliases for ALDH1A3 Gene

  • Aldehyde Dehydrogenase 1 Family Member A3 2 3 5
  • Retinaldehyde Dehydrogenase 3 2 3 4
  • Aldehyde Dehydrogenase 1 Family, Member A3 2 3
  • Aldehyde Dehydrogenase 6 3 4
  • RALDH3 3 4
  • ALDH6 3 4
  • Acetaldehyde Dehydrogenase 6 3
  • EC 4
  • EC 1.2.1 63
  • ALDH1A6 3
  • RALDH-3 4
  • MCOP8 3

External Ids for ALDH1A3 Gene

Previous HGNC Symbols for ALDH1A3 Gene

  • ALDH6

Previous GeneCards Identifiers for ALDH1A3 Gene

  • GC15P098102
  • GC15P095259
  • GC15P099012
  • GC15P099156
  • GC15P099157
  • GC15P099237
  • GC15P101419
  • GC15P077542

Summaries for ALDH1A3 Gene

Entrez Gene Summary for ALDH1A3 Gene

  • 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]

GeneCards Summary for ALDH1A3 Gene

ALDH1A3 (Aldehyde Dehydrogenase 1 Family Member A3) is a Protein Coding gene. Diseases associated with ALDH1A3 include microphthalmia, isolated 8 and isolated microphthalmia. Among its related pathways are Signaling by GPCR and Metabolism. GO annotations related to this gene include protein homodimerization activity and aldehyde dehydrogenase (NAD) activity. An important paralog of this gene is ALDH1A2.

UniProtKB/Swiss-Prot for ALDH1A3 Gene

  • Recognizes as substrates free retinal and cellular retinol-binding protein-bound retinal. Seems to be the key enzyme in the formation of an RA gradient along the dorso-ventral axis during the early eye development and also in the development of the olfactory system (By similarity).

Gene Wiki entry for ALDH1A3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALDH1A3 Gene

Genomics for ALDH1A3 Gene

Regulatory Elements for ALDH1A3 Gene

Genomic Location for ALDH1A3 Gene

100,877,714 bp from pter
100,916,626 bp from pter
38,913 bases
Plus strand

Genomic View for ALDH1A3 Gene

Genes around ALDH1A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALDH1A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALDH1A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH1A3 Gene

Proteins for ALDH1A3 Gene

  • Protein details for ALDH1A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Aldehyde dehydrogenase family 1 member A3
    Protein Accession:
    Secondary Accessions:
    • Q6NT64

    Protein attributes for ALDH1A3 Gene

    512 amino acids
    Molecular mass:
    56108 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ALDH1A3 Gene

Proteomics data for ALDH1A3 Gene at MOPED

Post-translational modifications for ALDH1A3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALDH1A3 Gene

Antibody Products

Domains & Families for ALDH1A3 Gene

Gene Families for ALDH1A3 Gene

Protein Domains for ALDH1A3 Gene

Suggested Antigen Peptide Sequences for ALDH1A3 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the aldehyde dehydrogenase family.
  • Belongs to the aldehyde dehydrogenase family.
genes like me logo Genes that share domains with ALDH1A3: view

Function for ALDH1A3 Gene

Molecular function for ALDH1A3 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
An aldehyde + NAD(P)(+) + H(2)O = a carboxylate + NAD(P)H.
UniProtKB/Swiss-Prot Function:
Recognizes as substrates free retinal and cellular retinol-binding protein-bound retinal. Seems to be the key enzyme in the formation of an RA gradient along the dorso-ventral axis during the early eye development and also in the development of the olfactory system (By similarity).

Enzyme Numbers (IUBMB) for ALDH1A3 Gene

Gene Ontology (GO) - Molecular Function for ALDH1A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001758 retinal dehydrogenase activity TAS --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with ALDH1A3: view
genes like me logo Genes that share phenotypes with ALDH1A3: view

Human Phenotype Ontology for ALDH1A3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ALDH1A3 Gene

MGI Knock Outs for ALDH1A3:

Animal Model Products

  • Taconic Biosciences Mouse Models for ALDH1A3

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for ALDH1A3 Gene

Localization for ALDH1A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH1A3 Gene


Subcellular locations from

Jensen Localization Image for ALDH1A3 Gene COMPARTMENTS Subcellular localization image for ALDH1A3 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 3
plasma membrane 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ALDH1A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 11585737
genes like me logo Genes that share ontologies with ALDH1A3: view

Pathways & Interactions for ALDH1A3 Gene

genes like me logo Genes that share pathways with ALDH1A3: view

Pathways by source for ALDH1A3 Gene

UniProtKB/Swiss-Prot P47895-AL1A3_HUMAN

  • Pathway: Cofactor metabolism; retinol metabolism.

Interacting Proteins for ALDH1A3 Gene

Gene Ontology (GO) - Biological Process for ALDH1A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002138 retinoic acid biosynthetic process IEA --
GO:0008152 metabolic process IEA --
GO:0021768 nucleus accumbens development IEA --
GO:0031076 embryonic camera-type eye development IEA --
GO:0042472 inner ear morphogenesis IEA --
genes like me logo Genes that share ontologies with ALDH1A3: view

No data available for SIGNOR curated interactions for ALDH1A3 Gene

Drugs & Compounds for ALDH1A3 Gene

(14) Drugs for ALDH1A3 Gene - From: HMDB, DrugBank, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin A Approved Nutra Target 413
acetic acid Approved Nutra Full agonist, Agonist 89
3,4-Dihydroxybenzeneacetic acid Experimental Pharma 0
beta-Alanine Experimental Pharma Full agonist, Agonist Endogenous glycine agonist, more selective than taurine (Cat. No. 0209) 0
Chloral hydrate Experimental, Illicit Pharma 14

(43) Additional Compounds for ALDH1A3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(S)-Methylmalonic acid semialdehyde
  • (2S)-2-methyl-3-oxopropanoate
  • (2S)-2-methyl-3-oxopropanoic acid
  • (S)-Methylmalonate semialdehyde
  • 3,4-Dihydroxyphenylglycolaldehyde
  • 3,4-Dihydroxyphenylglycolic aldehyde
  • a,3,4-Trihydroxy-Benzeneacetaldehyde
  • alpha,3,4-Trihydroxy-Benzeneacetaldehyde
3,4-Dihydroxymandelic acid
  • 3,4 Dihydroxymandelate
  • 3,4 Dihydroxymandelic acid
  • 3,4-Dihydroxymandelate
  • 3,4-Dihydroxyphenylglycolate
  • 3,4-Dihydroxyphenylglycolic acid
  • 3,4-Dihydroxy-Benzeneacetaldehyde
  • Protocatechuatealdehyde
genes like me logo Genes that share compounds with ALDH1A3: view

Transcripts for ALDH1A3 Gene

Unigene Clusters for ALDH1A3 Gene

Aldehyde dehydrogenase 1 family, member A3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ALDH1A3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP2: - - -

Relevant External Links for ALDH1A3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ALDH1A3 Gene

mRNA expression in normal human tissues for ALDH1A3 Gene

mRNA differential expression in normal tissues according to GTEx for ALDH1A3 Gene

This gene is overexpressed in Minor Salivary Gland (x7.3), Prostate (x5.7), and Adipose - Visceral (Omentum) (x5.5).

Protein differential expression in normal tissues from HIPED for ALDH1A3 Gene

This gene is overexpressed in Milk (12.7), Amniocyte (10.4), Salivary gland (8.5), and Seminal vesicle (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ALDH1A3 Gene

SOURCE GeneReport for Unigene cluster for ALDH1A3 Gene Hs.459538

mRNA Expression by UniProt/SwissProt for ALDH1A3 Gene

Tissue specificity: Expressed at low levels in many tissues and at higher levels in salivary gland, stomach, and kidney.
genes like me logo Genes that share expression patterns with ALDH1A3: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for ALDH1A3 Gene

Orthologs for ALDH1A3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALDH1A3 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ALDH1A3 35
  • 88.49 (n)
  • 94.35 (a)
ALDH1A3 36
  • 93 (a)
(Canis familiaris)
Mammalia ALDH1A3 35
  • 89.45 (n)
  • 92.97 (a)
ALDH1A3 36
  • 93 (a)
(Mus musculus)
Mammalia Aldh1a3 35
  • 87.24 (n)
  • 93.95 (a)
Aldh1a3 16
Aldh1a3 36
  • 94 (a)
(Pan troglodytes)
Mammalia ALDH1A3 35
  • 99.54 (n)
  • 99.8 (a)
ALDH1A3 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Aldh1a3 35
  • 88.41 (n)
  • 93.55 (a)
(Monodelphis domestica)
Mammalia ALDH1A3 36
  • 89 (a)
(Ornithorhynchus anatinus)
Mammalia ALDH1A3 36
  • 90 (a)
(Gallus gallus)
Aves ALDH1A3 35
  • 77.54 (n)
  • 86.13 (a)
ALDH6 36
  • 86 (a)
(Anolis carolinensis)
Reptilia ALDH1A3 36
  • 77 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh1a3 35
  • 73.45 (n)
  • 81.02 (a)
(Danio rerio)
Actinopterygii aldh1a3 35
  • 68.25 (n)
  • 70.75 (a)
aldh1a3 36
  • 70 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3752 37
  • 61 (a)
Aldh 36
  • 59 (a)
(Triticum aestivum)
Liliopsida Ta.25596 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8824 36
  • 63 (a)
Species with no ortholog for ALDH1A3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • worm (Caenorhabditis elegans)

Evolution for ALDH1A3 Gene

Gene Tree for ALDH1A3 (if available)
Gene Tree for ALDH1A3 (if available)

Paralogs for ALDH1A3 Gene

genes like me logo Genes that share paralogs with ALDH1A3: view

Variants for ALDH1A3 Gene

Sequence variations from dbSNP and Humsavar for ALDH1A3 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs3803430 - 100,905,610(-) TTCCA(C/T)GGCTG reference, missense
VAR_069322 Microphthalmia, isolated, 8 (MCOP8)
VAR_069323 Microphthalmia, isolated, 8 (MCOP8)
VAR_069324 Microphthalmia, isolated, 8 (MCOP8)
VAR_069325 Microphthalmia, isolated, 8 (MCOP8)

Structural Variations from Database of Genomic Variants (DGV) for ALDH1A3 Gene

Variant ID Type Subtype PubMed ID
nsv469824 CNV Loss 16826518
nsv904590 CNV Loss 21882294
dgv2449n71 CNV Loss 21882294
nsv827467 CNV Gain 20364138
esv26584 CNV Loss 19812545
nsv457288 CNV Loss 19166990
esv2750162 CNV Deletion 23290073
esv2750164 CNV Deletion 23290073
esv2750165 CNV Deletion 23290073
esv2750166 CNV Deletion 23290073
esv4123 CNV Deletion 18987735
esv2750167 CNV Deletion 23290073
esv2750168 CNV Deletion 23290073
esv1276733 CNV Deletion 17803354
esv1234590 CNV Deletion 17803354
esv993186 CNV Deletion 20482838
nsv904593 CNV Loss 21882294
nsv904594 CNV Loss 21882294
esv2547886 CNV Deletion 19546169
esv2046145 CNV Deletion 18987734
esv4921 CNV Deletion 18987735
esv2750169 CNV Deletion 23290073
esv9086 CNV Loss 19470904
esv1484966 CNV Deletion 17803354
nsv94665 CNV Loss 16902084

Variation tolerance for ALDH1A3 Gene

Residual Variation Intolerance Score: 11.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.89; 74.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALDH1A3 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALDH1A3 Gene

Disorders for ALDH1A3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ALDH1A3 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microphthalmia, isolated 8
  • isolated microphthalmia 8
isolated microphthalmia
  • microphthalmia, isolated 6
  • microphthalmos
- elite association - COSMIC cancer census association via MalaCards


  • Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. {ECO:0000269 PubMed:23312594, ECO:0000269 PubMed:23591992, ECO:0000269 PubMed:23646827, ECO:0000269 PubMed:23881059, ECO:0000269 PubMed:24024553, ECO:0000269 PubMed:24568872, ECO:0000269 PubMed:24777706}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ALDH1A3

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ALDH1A3: view

No data available for Genatlas for ALDH1A3 Gene

Publications for ALDH1A3 Gene

  1. Molecular cloning, genomic organization, and chromosomal localization of an additional human aldehyde dehydrogenase gene, ALDH6. (PMID: 7698756) Hsu L.C. … Hsieh C.-L. (Genomics 1994) 2 3 4 23 67
  2. Characterization of retinaldehyde dehydrogenase 3. (PMID: 16241904) Graham C.E. … Warren M.J. (Biochem. J. 2006) 23 25
  3. Retinoic acid biosynthesis by normal human breast epithelium is via aldehyde dehydrogenase 6, absent in MCF-7 cells. (PMID: 11585737) Rexer B.N. … Ong D.E. (Cancer Res. 2001) 3 23
  4. Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia. (PMID: 24568872) Semerci C.N. … Akarsu N.A. (Br J Ophthalmol 2014) 3
  5. Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families. (PMID: 24777706) Abouzeid H. … Schorderet D.F. (Hum. Mutat. 2014) 3

Products for ALDH1A3 Gene

Sources for ALDH1A3 Gene

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