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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 6 3 4
  • RALDH3 3 4
  • ALDH6 3 4
  • Aldehyde Dehydrogenase 1 Family, Member A3 2
  • Aldehyde Dehydrogenase Family 1 Member A3 3
  • Acetaldehyde Dehydrogenase 6 3
  • EC 1.2.1.5 4
  • EC 1.2.1 61
  • 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 Drug metabolism - cytochrome P450 and Tyrosine 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

Enhancers for ALDH1A3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15F100848 0.4 ENCODE 12.1 -27.8 -27787 2.0 CTCF TAF1 SIN3A RAD21 GATA3 POLR2A SMC3 MAZ RFX1 PHF8 ALDH1A3 ENSG00000232386 ENSG00000259604 ENSG00000270127 ENSG00000272808 LOC105369201
GH15F100900 0.9 Ensembl ENCODE 11.8 +24.4 24384 3.3 ELF3 JUN YY1 GABPA SMARCA4 ZNF366 GABPB1 CREB1 CUX1 ZBTB33 ALDH1A3 ASB7 LINS1 GC15P100892 LRRK1
GH15F100842 0.6 ENCODE 11.3 -34.4 -34398 1.3 LEF1 PKNOX1 TAL1 RAD21 GATA3 TRIM24 RNF2 L3MBTL2 BHLHE40 USF2 ALDH1A3 LRRK1 ENSG00000232386 PHF5HP ENSG00000279588
GH15F101006 0.5 Ensembl ENCODE 10.9 +130.3 130289 2.4 HDGF ATF1 PKNOX1 WRNIP1 ARID4B SIN3A ZNF2 GLIS2 ZNF143 ZNF207 LRRK1 CHSY1 ALDH1A3 PIR34573 LOC101927751
GH15F100627 0.6 ENCODE 10.9 -249.7 -249734 0.2 HDGF ATF1 PKNOX1 SIN3A FOS JUNB NCOA1 REST MBD2 SMARCA4 LINS1 ASB7 ALDH1A3 GC15P100639
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ALDH1A3 on UCSC Golden Path with GeneCards custom track

Genomic Location for ALDH1A3 Gene

Chromosome:
15
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

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:
    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

Post-translational modifications for ALDH1A3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALDH1A3 Gene

Domains & Families for ALDH1A3 Gene

Gene Families for ALDH1A3 Gene

Suggested Antigen Peptide Sequences for ALDH1A3 Gene

Graphical View of Domain Structure for InterPro Entry

P47895

UniProtKB/Swiss-Prot:

AL1A3_HUMAN :
  • Belongs to the aldehyde dehydrogenase family.
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:0004029 aldehyde dehydrogenase (NAD) activity IBA --
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 --
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

Inhibitory RNA Products

Clone 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

Cytoplasm.

Subcellular locations from

COMPARTMENTS
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 IDA 11585737
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 23533145
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.

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 IEA --
GO:0021768 nucleus accumbens development 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: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin A Approved, Vet_approved Nutra Target 468
Chloral hydrate Approved, Illicit, Vet_approved Pharma 15
Phenylacetic acid Approved Pharma 11
Water Approved Pharma 0
acetic acid Approved Nutra Full agonist, Agonist 107

(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
99043-16-0
2-Propyn-1-al
3,4-Dihydroxymandelaldehyde
  • 3,4-Dihydroxyphenylglycolaldehyde
  • 3,4-Dihydroxyphenylglycolic aldehyde
  • a,3,4-Trihydroxy-Benzeneacetaldehyde
  • alpha,3,4-Trihydroxy-Benzeneacetaldehyde
13023-73-9
3,4-Dihydroxymandelic acid
  • 3,4 Dihydroxymandelate
  • 3,4 Dihydroxymandelic acid
  • 3,4-Dihydroxymandelate
  • 3,4-Dihydroxyphenylglycolate
  • 3,4-Dihydroxyphenylglycolic acid
775-01-9
3,4-Dihydroxyphenylacetaldehyde
  • 3,4-Dihydroxy-Benzeneacetaldehyde
  • Protocatechuatealdehyde
5707-55-1
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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 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, MaxQB, and MOPED for ALDH1A3 Gene



NURSA nuclear receptor signaling pathways regulating expression of ALDH1A3 Gene:

ALDH1A3

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 expression patterns with ALDH1A3: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia ALDH1A3 34 35
  • 99.54 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ALDH1A3 35
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALDH1A3 34 35
  • 89.45 (n)
oppossum
(Monodelphis domestica)
Mammalia ALDH1A3 35
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ALDH1A3 34 35
  • 88.49 (n)
rat
(Rattus norvegicus)
Mammalia Aldh1a3 34
  • 88.41 (n)
mouse
(Mus musculus)
Mammalia Aldh1a3 34 16 35
  • 87.24 (n)
chicken
(Gallus gallus)
Aves ALDH6 35
  • 86 (a)
OneToOne
ALDH1A3 34
  • 77.54 (n)
lizard
(Anolis carolinensis)
Reptilia ALDH1A3 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh1a3 34
  • 73.45 (n)
zebrafish
(Danio rerio)
Actinopterygii aldh1a3 34 35
  • 68.25 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3752 36
  • 61 (a)
Aldh 35
  • 59 (a)
OneToMany
wheat
(Triticum aestivum)
Liliopsida Ta.25596 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8824 35
  • 63 (a)
OneToMany
Species where no ortholog for ALDH1A3 was found in the sources mined by GeneCards:
  • 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
rs386834230 Microphthalmia, isolated, 8 (MCOP8) [MIM:615113], Pathogenic 100,887,578(+) CCGAC(A/G)TGGAC reference, missense
rs397514652 Microphthalmia, isolated, 8 (MCOP8) [MIM:615113], Pathogenic 100,887,632(+) CATGG(C/T)GCCGG reference, missense
rs397514653 Microphthalmia, isolated, 8 (MCOP8) [MIM:615113], Pathogenic 100,914,711(+) AATAC(A/C/G)CTTTG intron-variant, nc-transcript-variant, reference, missense
rs754619607 Microphthalmia, isolated, 8 (MCOP8) [MIM:615113] 100,892,598(+) CTTTG(C/T)AGGGT intron-variant, nc-transcript-variant, reference, missense
VAR_069324 Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]

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

Variant ID Type Subtype PubMed ID
dgv1275n106 CNV deletion 24896259
dgv4781n54 CNV gain 21841781
dgv4782n54 CNV gain+loss 21841781
dgv4783n54 CNV gain+loss 21841781
dgv4784n54 CNV gain 21841781
dgv4785n54 CNV gain+loss 21841781
dgv4786n54 CNV gain 21841781
dgv4787n54 CNV loss 21841781
esv1234590 CNV deletion 17803354
esv1276733 CNV deletion 17803354
esv1484966 CNV deletion 17803354
esv2046145 CNV deletion 18987734
esv2547886 CNV deletion 19546169
esv26584 CNV loss 19812545
esv2750162 CNV deletion 23290073
esv2750164 CNV deletion 23290073
esv2750165 CNV deletion 23290073
esv2750166 CNV deletion 23290073
esv2750167 CNV deletion 23290073
esv2750168 CNV deletion 23290073
esv2750169 CNV deletion 23290073
esv3552946 CNV deletion 23714750
esv4123 CNV loss 18987735
esv4921 CNV loss 18987735
esv9086 CNV loss 19470904
esv993186 CNV deletion 20482838
nsv1041172 CNV gain 25217958
nsv1120708 CNV deletion 24896259
nsv1140031 CNV deletion 24896259
nsv1152655 CNV deletion 26484159
nsv457288 CNV loss 19166990
nsv469824 CNV loss 16826518
nsv476137 CNV novel sequence insertion 20440878
nsv477959 CNV novel sequence insertion 20440878
nsv570802 CNV gain 21841781
nsv570804 CNV gain+loss 21841781
nsv570816 CNV gain 21841781
nsv570825 CNV loss 21841781
nsv570826 CNV loss 21841781
nsv570827 CNV loss 21841781
nsv827467 CNV gain 20364138
nsv94665 CNV deletion 16902084
nsv957971 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
ALDH1A3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALDH1A3

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

Disorders for ALDH1A3 Gene

MalaCards: The human disease database

(3) 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
microphthalmia
  • microphthalmos
- elite association - COSMIC cancer census association via MalaCards

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALDH1A3
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 22 64
  2. 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 4 64
  3. Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families. (PMID: 24777706) Abouzeid H. … Schorderet D.F. (Hum. Mutat. 2014) 3 4 64
  4. Mutations in ALDH1A3 cause Microphthalmia. (PMID: 23646827) Aldahmesh M.A. … Alkuraya F.S. (Clin. Genet. 2013) 3 4 64
  5. A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred. (PMID: 23881059) Mory A. … Gershoni-Baruch R. (Eur. J. Hum. Genet. 2013) 3 4 64

Products for ALDH1A3 Gene

Sources for ALDH1A3 Gene

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