Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ALDH3A1 Gene

Aliases for ALDH3A1 Gene

  • Aldehyde Dehydrogenase 3 Family Member A1 2 3 5
  • Aldehyde Dehydrogenase, Dimeric NADP-Preferring 2 3
  • EC 1.2.1.5 4 61
  • ALDHIII 3 4
  • ALDH3 3 4
  • Aldehyde Dehydrogenase 3 Family, Member A1 2
  • Aldehyde Dehydrogenase Family 3 Member A1 4
  • Aldehyde Dehydrogenase Isozyme 3 3
  • Aldehyde Dehydrogenase Type III 3
  • Stomach Aldehyde Dehydrogenase 3
  • Aldehyde Dehydrogenase 3 4
  • EC 1.2.1 61

External Ids for ALDH3A1 Gene

Previous HGNC Symbols for ALDH3A1 Gene

  • ALDH3

Previous GeneCards Identifiers for ALDH3A1 Gene

  • GC17M019747
  • GC17M021277
  • GC17M019545
  • GC17M019803
  • GC17M019581
  • GC17M019641
  • GC17M019020

Summaries for ALDH3A1 Gene

Entrez Gene Summary for ALDH3A1 Gene

  • 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]

GeneCards Summary for ALDH3A1 Gene

ALDH3A1 (Aldehyde Dehydrogenase 3 Family Member A1) is a Protein Coding gene. Diseases associated with ALDH3A1 include Breast Adenocarcinoma and Sjogren-Larsson Syndrome. Among its related pathways are 2-deoxy-alpha-D-ribose 1-phosphate degradation and beta-Alanine metabolism (KEGG). GO annotations related to this gene include oxidoreductase activity and aldehyde dehydrogenase (NAD) activity. An important paralog of this gene is ALDH3A2.

UniProtKB/Swiss-Prot for ALDH3A1 Gene

  • ALDHs play a major role in the detoxification of alcohol-derived acetaldehyde (Probable). They are involved in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation (Probable). Oxidizes medium and long chain aldehydes into non-toxic fatty acids (PubMed:1737758). Preferentially oxidizes aromatic aldehyde substrates (PubMed:1737758). Comprises about 50 percent of corneal epithelial soluble proteins (By similarity). May play a role in preventing corneal damage caused by ultraviolet light (By similarity).

Gene Wiki entry for ALDH3A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALDH3A1 Gene

Genomics for ALDH3A1 Gene

Regulatory Elements for ALDH3A1 Gene

Enhancers for ALDH3A1 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around ALDH3A1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the ALDH3A1 gene promoter:

Genomic Location for ALDH3A1 Gene

Chromosome:
17
Start:
19,737,984 bp from pter
End:
19,748,943 bp from pter
Size:
10,960 bases
Orientation:
Minus strand

Genomic View for ALDH3A1 Gene

Genes around ALDH3A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALDH3A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALDH3A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH3A1 Gene

Proteins for ALDH3A1 Gene

  • Protein details for ALDH3A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P30838-AL3A1_HUMAN
    Recommended name:
    Aldehyde dehydrogenase, dimeric NADP-preferring
    Protein Accession:
    P30838
    Secondary Accessions:
    • A8K828
    • Q9BT37

    Protein attributes for ALDH3A1 Gene

    Size:
    453 amino acids
    Molecular mass:
    50395 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for ALDH3A1 Gene

neXtProt entry for ALDH3A1 Gene

Post-translational modifications for ALDH3A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ALDH3A1 Gene

Gene Families for ALDH3A1 Gene

Graphical View of Domain Structure for InterPro Entry

P30838

UniProtKB/Swiss-Prot:

AL3A1_HUMAN :
  • Belongs to the aldehyde dehydrogenase family.
Family:
  • Belongs to the aldehyde dehydrogenase family.
genes like me logo Genes that share domains with ALDH3A1: view

Function for ALDH3A1 Gene

Molecular function for ALDH3A1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: Note=Has a high Km for acetaldehyde.;
UniProtKB/Swiss-Prot CatalyticActivity:
An aldehyde + NAD(P)(+) + H(2)O = a carboxylate + NAD(P)H.
UniProtKB/Swiss-Prot Function:
ALDHs play a major role in the detoxification of alcohol-derived acetaldehyde (Probable). They are involved in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation (Probable). Oxidizes medium and long chain aldehydes into non-toxic fatty acids (PubMed:1737758). Preferentially oxidizes aromatic aldehyde substrates (PubMed:1737758). Comprises about 50 percent of corneal epithelial soluble proteins (By similarity). May play a role in preventing corneal damage caused by ultraviolet light (By similarity).

Enzyme Numbers (IUBMB) for ALDH3A1 Gene

Gene Ontology (GO) - Molecular Function for ALDH3A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004028 3-chloroallyl aldehyde dehydrogenase activity IBA --
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
genes like me logo Genes that share ontologies with ALDH3A1: view
genes like me logo Genes that share phenotypes with ALDH3A1: view

Animal Models for ALDH3A1 Gene

MGI Knock Outs for ALDH3A1:

Animal Model Products

CRISPR Products

miRNA for ALDH3A1 Gene

miRTarBase miRNAs that target ALDH3A1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ALDH3A1 Gene

Localization for ALDH3A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH3A1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALDH3A1 Gene COMPARTMENTS Subcellular localization image for ALDH3A1 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
plasma membrane 5
endoplasmic reticulum 4
mitochondrion 4
cytoskeleton 2
peroxisome 2
chloroplast 1

Gene Ontology (GO) - Cellular Components for ALDH3A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005783 endoplasmic reticulum IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ALDH3A1: view

Pathways & Interactions for ALDH3A1 Gene

genes like me logo Genes that share pathways with ALDH3A1: view

Gene Ontology (GO) - Biological Process for ALDH3A1 Gene

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 --
genes like me logo Genes that share ontologies with ALDH3A1: view

No data available for SIGNOR curated interactions for ALDH3A1 Gene

Drugs & Compounds for ALDH3A1 Gene

(20) Drugs for ALDH3A1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Chloral hydrate Approved, Illicit, Vet_approved Pharma 14
phenylacetic acid Approved Pharma 11
Water Approved Pharma 0
acetic acid Approved Nutra Full agonist, Agonist 101
3,4-Dihydroxybenzeneacetic acid Experimental Pharma 0

(36) Additional Compounds for ALDH3A1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Aldophosphamide
Carboxyphosphamide
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
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
genes like me logo Genes that share compounds with ALDH3A1: view

Transcripts for ALDH3A1 Gene

Unigene Clusters for ALDH3A1 Gene

Aldehyde dehydrogenase 3 family, member A1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALDH3A1 Gene

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:

Relevant External Links for ALDH3A1 Gene

GeneLoc Exon Structure for
ALDH3A1
ECgene alternative splicing isoforms for
ALDH3A1

Expression for ALDH3A1 Gene

mRNA expression in normal human tissues for ALDH3A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ALDH3A1 Gene

This gene is overexpressed in Esophagus - Mucosa (x28.6), Stomach (x10.1), and Minor Salivary Gland (x4.2).

Protein differential expression in normal tissues from HIPED for ALDH3A1 Gene

This gene is overexpressed in Nasal epithelium (33.5), Tonsil (14.7), and Oral epithelium (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ALDH3A1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ALDH3A1 Gene:

ALDH3A1

SOURCE GeneReport for Unigene cluster for ALDH3A1 Gene:

Hs.531682

mRNA Expression by UniProt/SwissProt for ALDH3A1 Gene:

P30838-AL3A1_HUMAN
Tissue specificity: High levels in stomach, esophagus and lung; low level in the liver and kidney.
genes like me logo Genes that share expression patterns with ALDH3A1: view

Primer Products

No data available for Protein tissue co-expression partners for ALDH3A1 Gene

Orthologs for ALDH3A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALDH3A1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ALDH3A1 34
  • 86.53 (n)
  • 86.98 (a)
ALDH3A1 35
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALDH3A1 34
  • 88.3 (n)
  • 88.52 (a)
ALDH3A1 35
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aldh3a1 34
  • 81.24 (n)
  • 80.35 (a)
Aldh3a1 16
Aldh3a1 35
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ALDH3A1 34
  • 99.12 (n)
  • 98.68 (a)
ALDH3A1 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aldh3a1 34
  • 82.12 (n)
  • 81.68 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 78 (a)
OneToMany
-- 35
  • 75 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia ALDH3A1 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALDH3A2 35
  • 61 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 56 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.864 34
zebrafish
(Danio rerio)
Actinopterygii aldh3a1 35
  • 49 (a)
ManyToMany
aldh3a2a 35
  • 53 (a)
ManyToMany
aldh3a2b 35
  • 54 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Aldh-III 36
  • 50 (a)
Aldh-III 35
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea alh-4 35
  • 46 (a)
ManyToMany
alh-5 35
  • 49 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HFD1 35
  • 30 (a)
OneToMany
HFD1 37
thale cress
(Arabidopsis thaliana)
eudicotyledons ALDH3H1 34
  • 48.75 (n)
  • 47.61 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.4281 34
rice
(Oryza sativa)
Liliopsida Os.5577 34
Os11g0186200 34
  • 51.4 (n)
  • 47.62 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6683 35
  • 43 (a)
ManyToMany
CSA.9635 35
  • 40 (a)
ManyToMany
Species where no ortholog for ALDH3A1 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)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ALDH3A1 Gene

ENSEMBL:
Gene Tree for ALDH3A1 (if available)
TreeFam:
Gene Tree for ALDH3A1 (if available)

Paralogs for ALDH3A1 Gene

Paralogs for ALDH3A1 Gene

Pseudogenes.org Pseudogenes for ALDH3A1 Gene

genes like me logo Genes that share paralogs with ALDH3A1: view

Variants for ALDH3A1 Gene

Sequence variations from dbSNP and Humsavar for ALDH3A1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs2228100 - 19,739,639(-) AGTCC(C/G)CGGTG reference, missense
rs887241 - 19,742,625(-) GGAAC(A/G/T)CAGTG reference, missense
rs3744692 - 19,740,359(-) CACCG(A/G)GGATG reference, missense
rs1042172 -- 19,745,095(-) CGCCC(C/G)CGCCG intron-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs1042183 -- 19,738,008(-) GAGAC(A/G)AATAC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ALDH3A1 Gene

Variant ID Type Subtype PubMed ID
nsv1061317 CNV gain 25217958
nsv1063892 CNV gain 25217958
nsv457704 CNV loss 19166990
nsv470582 CNV loss 18288195
nsv526290 CNV loss 19592680
nsv574580 CNV loss 21841781
nsv953846 CNV deletion 24416366

Variation tolerance for ALDH3A1 Gene

Residual Variation Intolerance Score: 95.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.44; 90.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALDH3A1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALDH3A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALDH3A1 Gene

Disorders for ALDH3A1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ALDH3A1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
breast adenocarcinoma
  • adenocarcinoma of breast
sjogren-larsson syndrome
  • sjogren larsson syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ALDH3A1

Genetic Association Database (GAD)
ALDH3A1
Human Genome Epidemiology (HuGE) Navigator
ALDH3A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALDH3A1
genes like me logo Genes that share disorders with ALDH3A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ALDH3A1 Gene

Publications for ALDH3A1 Gene

  1. Human stomach aldehyde dehydrogenase cDNA and genomic cloning, primary structure, and expression in Escherichia coli. (PMID: 1737758) Hsu L.C. … Yoshida A. (J. Biol. Chem. 1992) 2 3 4 22 65
  2. Influence of polymorphisms of drug metabolizing enzymes (CYP2B6, CYP2C9, CYP2C19, CYP3A4, CYP3A5, GSTA1, GSTP1, ALDH1A1 and ALDH3A1) on the pharmacokinetics of cyclophosphamide and 4-hydroxycyclophosphamide. (PMID: 18496131) Ekhart C. … Huitema A.D. (Pharmacogenet. Genomics 2008) 3 22 46 65
  3. Relations between polymorphisms in drug-metabolising enzymes and toxicity of chemotherapy with cyclophosphamide, thiotepa and carboplatin. (PMID: 18854779) Ekhart C. … Huitema A.D. (Pharmacogenet. Genomics 2008) 3 22 46 65
  4. Mutations associated with Sjogren-Larsson syndrome. (PMID: 9250352) Tsukamoto N. … Yoshida A. (Ann. Hum. Genet. 1997) 3 4 22 65
  5. Human stomach aldehyde dehydrogenase, ALDH3. (PMID: 8493892) Hsu L.C. … Yoshida A. (Adv. Exp. Med. Biol. 1993) 3 4 22 65

Products for ALDH3A1 Gene

Sources for ALDH3A1 Gene

Content