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Aliases for ALDH1A3 Gene

Aliases for ALDH1A3 Gene

  • Aldehyde Dehydrogenase 1 Family, Member A3 2 3
  • Retinaldehyde Dehydrogenase 3 2 3 4
  • ALDH6 3 4 6
  • Aldehyde Dehydrogenase 6 3 4
  • RALDH3 3 4
  • MCOP8 3 6
  • Aldehyde Dehydrogenase Family 1 Member A3 3
  • Acetaldehyde Dehydrogenase 6 3
  • EC 1.2.1.5 4
  • EC 1.2.1 64
  • ALDH1A6 3
  • RALDH-3 4

External Ids for ALDH1A3 Gene

Previous Symbols for ALDH1A3 Gene

  • ALDH6

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 anophthalmia/microphthalmia. Among its related pathways are Metabolism and Chemical carcinogenesis. 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

Genomic Location for ALDH1A3 Gene

Start:
100,877,714 bp from pter
End:
100,916,626 bp from pter
Size:
38,913 bases
Orientation:
Plus strand

Genomic View for ALDH1A3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ALDH1A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH1A3 Gene

Regulatory Elements for ALDH1A3 Gene

Proteins for ALDH1A3 Gene

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

    Protein Symbol:
    P47895-AL1A3_HUMAN
    Recommended name:
    Aldehyde dehydrogenase family 1 member A3
    Protein Accession:
    P47895
    Secondary Accessions:
    • Q6NT64

    Protein attributes for ALDH1A3 Gene

    Size:
    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

Domains for ALDH1A3 Gene

Gene Families for ALDH1A3 Gene

HGNC:
  • ALDH :Aldehyde dehydrogenases

Protein Domains for ALDH1A3 Gene

UniProtKB/Swiss-Prot:

AL1A3_HUMAN
Family:
  • Belongs to the aldehyde dehydrogenase family.:
    • P47895
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 IBA --
GO:0004029 aldehyde dehydrogenase (NAD) activity IBA --
GO:0004030 aldehyde dehydrogenase [NAD(P)+] activity IDA 11585737
GO:0016491 oxidoreductase activity --
GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor --
genes like me logo Genes that share ontologies with ALDH1A3: view
genes like me logo Genes that share phenotypes with ALDH1A3: view

Animal Models for ALDH1A3 Gene

MGI Knock Outs for ALDH1A3:

miRNA for ALDH1A3 Gene

miRTarBase miRNAs that target ALDH1A3

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

Localization for ALDH1A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH1A3 Gene

Cytoplasm.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for ALDH1A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 11585737
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with ALDH1A3: view

Pathways for ALDH1A3 Gene

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

Pathways by source for ALDH1A3 Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for ALDH1A3 Gene
2 BioSystems pathways 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:0002072 optic cup morphogenesis involved in camera-type eye development IEA --
GO:0002138 retinoic acid biosynthetic process IEA --
GO:0007626 locomotory behavior IEA --
GO:0008152 metabolic process --
GO:0021768 nucleus accumbens development IEA --
genes like me logo Genes that share ontologies with ALDH1A3: view

Compounds for ALDH1A3 Gene

(42) HMDB Compounds for ALDH1A3 Gene

Compound Synonyms Cas Number PubMed IDs
(S)-Methylmalonic acid semialdehyde
  • (S)-Methylmalonate semialdehyde
99043-16-0
2-Propyn-1-al
Not Available
3,4-Dihydroxybenzeneacetic acid
  • (3,4-Dihydroxyphenyl)acetate
102-32-9
3,4-Dihydroxymandelaldehyde
  • 3,4-Dihydroxyphenylglycolaldehyde
13023-73-9
3,4-Dihydroxyphenylacetaldehyde
  • Protocatechuatealdehyde
5707-55-1

(2) Drugbank Compounds for ALDH1A3 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
NADH
  • beta-DPNH
606-68-8 target
Vitamin A
  • [11,12-3H]-Retinol
68-26-8 target

(5) Novoseek inferred chemical compound relationships for ALDH1A3 Gene

Compound -log(P) Hits PubMed IDs
retinaldehyde 90.3 6
retinoic acid 67.1 13
vitamin a 48.6 2
nad+ 47.7 4
testosterone 19.6 4
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
SP1:
SP2: - - -

Relevant External Links for ALDH1A3 Gene

GeneLoc Exon Structure for
ALDH1A3
ECgene alternative splicing isoforms for
ALDH1A3

Expression for ALDH1A3 Gene

mRNA expression in normal human tissues for ALDH1A3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Minor Salivary Gland (7.3), Prostate (5.7), and Adipose - Visceral (Omentum) (5.5).

Integrated Proteomics: protein expression 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

P47895-AL1A3_HUMAN
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 expressions with ALDH1A3: view

Orthologs for ALDH1A3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALDH1A3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALDH1A3 36
  • 99.54 (n)
  • 99.8 (a)
ALDH1A3 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ALDH1A3 36
  • 88.49 (n)
  • 94.35 (a)
ALDH1A3 37
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALDH1A3 36
  • 89.45 (n)
  • 92.97 (a)
ALDH1A3 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aldh1a3 36
  • 87.24 (n)
  • 93.95 (a)
Aldh1a3 16
Aldh1a3 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALDH1A3 37
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALDH1A3 37
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aldh1a3 36
  • 88.41 (n)
  • 93.55 (a)
chicken
(Gallus gallus)
Aves ALDH1A3 36
  • 77.54 (n)
  • 86.13 (a)
ALDH6 37
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALDH1A3 37
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh1a3 36
  • 73.45 (n)
  • 81.02 (a)
zebrafish
(Danio rerio)
Actinopterygii aldh1a3 36
  • 68.25 (n)
  • 70.75 (a)
aldh1a3 37
  • 70 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Aldh 37
  • 59 (a)
OneToMany
CG3752 38
  • 61 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.25596 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8824 37
  • 63 (a)
OneToMany
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

ENSEMBL:
Gene Tree for ALDH1A3 (if available)
TreeFam:
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 MAF
rs1886 -- 100,892,199(-) GGAAC(A/G)CACAC intron-variant
rs1889 -- 100,892,142(-) CCAGT(C/T)GTGTG intron-variant
rs7045 -- 100,916,578(+) CAGAT(C/T)GCATC utr-variant-3-prime
rs14226 -- 100,916,112(+) GGCCC(A/G)TAACA utr-variant-3-prime
rs1130737 -- 100,879,950(+) CGGAC(A/G)GGAAG reference, missense

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

Relevant External Links for ALDH1A3 Gene

HapMap Linkage Disequilibrium report
ALDH1A3
Human Gene Mutation Database (HGMD)
ALDH1A3

Disorders for ALDH1A3 Gene

(1) OMIM Diseases for ALDH1A3 Gene (600463)

UniProtKB/Swiss-Prot

AL1A3_HUMAN
  • 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)
ALDH1A3
Human Genome Epidemiology (HuGE) Navigator
ALDH1A3
genes like me logo Genes that share disorders with ALDH1A3: view

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
  2. 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
  3. Positive association between ALDH1A2 and schizophrenia in the Chinese population. (PMID: 19703508) Wan C. … He L. (Prog. Neuropsychopharmacol. Biol. Psychiatry 2009) 3 49
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A. … Kamatani N. (J. Hum. Genet. 2009) 3 49

Products for ALDH1A3 Gene

Sources for ALDH1A3 Gene

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