ALDH3A1 Gene (Protein Coding)

Aldehyde Dehydrogenase 3 Family Member A1

GC17M019737
GIFtS:
44
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 ... See more...

Aliases for ALDH3A1 Gene

Aliases for ALDH3A1 Gene

  • Aldehyde Dehydrogenase 3 Family Member A1 2 3 5
  • Aldehyde Dehydrogenase, Dimeric NADP-Preferring 2 3 4
  • EC 1.2.1.5 4 51
  • 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 51
  • ALDH3A1 5

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 Conjunctival Degeneration and Sjogren-Larsson Syndrome. Among its related pathways are Glucose metabolism and Tyrosine metabolism. Gene Ontology (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 Summary 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

Additional gene information for ALDH3A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALDH3A1 Gene

Genomics for ALDH3A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ALDH3A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALDH3A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ALDH3A1

Top Transcription factor binding sites by QIAGEN in the ALDH3A1 gene promoter:
  • AML1a

Genomic Locations for ALDH3A1 Gene

Genomic Locations for ALDH3A1 Gene
chr17:19,737,984-19,748,943
(GRCh38/hg38)
Size:
10,960 bases
Orientation:
Minus strand
chr17:19,641,297-19,652,256
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for ALDH3A1 Gene

Proteins for ALDH3A1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for ALDH3A1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ALDH3A1 Gene

P30838:
  • VTLELGG
  • AGNAVVLKP
  • APDYILC
  • VVLKPSE
  • TLELGGK
  • ACRRIAWGKFMNSGQTCVAPDYILCDPSIQ
  • GQTCVAPDY
  • EKPLALY
  • CVRSLEEAIQFI
  • SGMGSYHG

Post-translational modifications for ALDH3A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALDH3A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ALDH3A1 Gene

Gene Families for ALDH3A1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for ALDH3A1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ALDH3A1 Gene

GenScript: Design optimal peptide antigens:
  • Aldehyde dehydrogenase (A8K828_HUMAN)
  • Aldehyde dehydrogenase family 3 member A1 (AL3A1_HUMAN)
  • Aldehyde dehydrogenase (E7ERM4_HUMAN)
  • Aldehyde dehydrogenase (Q6PKA6_HUMAN)

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for ALDH3A1 Gene

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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an aldehyde + H2O + NAD(+) = a carboxylate + 2 H(+) + NADH; Xref=Rhea:RHEA:16185, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17478, ChEBI:CHEBI:29067, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.2.1.5; Evidence={ECO:0000269|PubMed:1737758, ECO:0000269|PubMed:22021038};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + NAD(+) + octanal = 2 H(+) + NADH + octanoate; Xref=Rhea:RHEA:44100, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17935, ChEBI:CHEBI:25646, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence={ECO:0000250|UniProtKB:P47739};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: Note=Has a high Km for acetaldehyde.;

Enzyme Numbers (IUBMB) for ALDH3A1 Gene

Phenotypes From GWAS Catalog 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 21873635
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALDH3A1

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALDH3A1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
extracellular 4
endoplasmic reticulum 4
mitochondrion 3
nucleus 3
cytoskeleton 2
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (2)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ALDH3A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 22664934
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IDA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA --
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

Pathways by source for ALDH3A1 Gene

1 GeneGo (Thomson Reuters) pathway for ALDH3A1 Gene
  • Tyrosine metabolism p.1 (dopamine)

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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 3670
Doxorubicin Approved, Investigational Pharma Topo II inhibitor,immunosuppresive antineoplastic antibiotic 2029
Fluorouracil Approved Pharma RNA processing inhibitor and thymidylate synthase inhibitor 2338
acetic acid Approved Pharma Agonist, Full agonist 139

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Aldophosphamide
  • Cyclophosphamide-mustard
  • Cyp-mustard
Carboxyphosphamide
  • Carboxycyclophosphamide
  • Carboxyphosphamide, (S)-isomer
  • Carboxyphosphamide, (R)-isomer
3,4-Dihydroxymandelaldehyde
  • 3,4-Dihydroxymandelic aldehyde
  • 3,4-Dihydroxyphenylglycolaldehyde
  • 3,4-Dihydroxyphenylglycolic aldehyde
  • alpha,3,4-Trihydroxybenzeneacetaldehyde
  • alpha,3,4-Trihydroxyphenylacetaldehyde
 13023-73-9
3,4-Dihydroxymandelic acid
  • (3,4-Dihydroxyphenyl)(hydroxy)acetic acid
  • 3,4-Dihydroxymandelate
  • 3,4-Dihydroxyphenylglycolic acid
  • Dihydroxymandelic acid
  • DOMA
 775-01-9
3,4-Dihydroxyphenylacetaldehyde
  • 2-(3,4-Dihydroxyphenyl)ethanal
  • DOPAL
  • Protocatechuatealdehyde
  • 3,4-Dihydroxy-benzeneacetaldehyde
  • DHPAA aldehyde
 5707-55-1
genes like me logo Genes that share compounds with ALDH3A1: view

Transcripts for ALDH3A1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ALDH3A1 Gene

4 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALDH3A1

Clone 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

Expression for ALDH3A1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ALDH3A1 Gene

mRNA expression in normal human tissues for ALDH3A1 Gene
mRNA expression by BioGPS for ALDH3A1 GenemRNA expression by GTEx 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, MaxQB, and MOPED for ALDH3A1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for ALDH3A1 Gene

  • Pancreas(4.8)
  • Stomach(4.8)
  • Lung(4.6)
  • Eye(4.6)
  • Skin(2.8)
  • Liver(2.4)
  • Blood(2)
  • Intestine(2)
genes like me logo Genes that share expression patterns with ALDH3A1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
 Mammalia ALDH3A1 30 31
  • 99.12 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ALDH3A1 30 31
  • 88.3 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ALDH3A1 30 31
  • 86.53 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Aldh3a1 30
  • 82.12 (n)
Mouse
(Mus musculus)
 Mammalia Aldh3a1 30 17 31
  • 81.24 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia ALDH3A1 31
  • 79 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 78 (a)
 OneToMany
-- 31
  • 75 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves ALDH3A2 31
  • 61 (a)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 56 (a)
 OneToMany
Zebrafish
(Danio rerio)
 Actinopterygii aldh3a2b 31
  • 54 (a)
 ManyToMany
aldh3a2a 31
  • 53 (a)
 ManyToMany
aldh3a1 31
  • 49 (a)
 ManyToMany
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.864 30
Fruit Fly
(Drosophila melanogaster)
 Insecta Aldh-III 31 32
  • 41 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea alh-5 31
  • 49 (a)
 ManyToMany
alh-4 31
  • 46 (a)
 ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes HFD1 31 33
  • 30 (a)
 OneToMany
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons ALDH3H1 30
  • 48.75 (n)
Rice
(Oryza sativa)
 Liliopsida Os11g0186200 30
  • 51.4 (n)
Os.5577 30
Barley
(Hordeum vulgare)
 Liliopsida Hv.4281 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.6683 31
  • 43 (a)
 ManyToMany
CSA.9635 31
  • 40 (a)
 ManyToMany
Species where no ortholog for ALDH3A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ALDH3A1: view image

Paralogs for ALDH3A1 Gene

Paralogs for ALDH3A1 Gene

(5) SIMAP similar genes for ALDH3A1 Gene using alignment to 10 proteins:

  • AL3A1_HUMAN
  • A8MYB8_HUMAN
  • C9JKT2_HUMAN
  • C9JMC5_HUMAN
  • E9PNN6_HUMAN
  • I3L1H6_HUMAN
  • I3L3I9_HUMAN
  • I3L3W9_HUMAN
  • I3L4E5_HUMAN
  • Q6PKA6_HUMAN
genes like me logo Genes that share paralogs with ALDH3A1: view

Variants for ALDH3A1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ALDH3A1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
710460 Benign: not provided 19,742,099(-) C/T SYNONYMOUS_VARIANT
710461 Benign: not provided 19,744,989(-) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
725245 Likely Benign: not provided 19,745,036(-) C/T MISSENSE_VARIANT,INTRON_VARIANT
739577 Likely Benign: not provided 19,739,598(-) G/A SYNONYMOUS_VARIANT
745983 Likely Benign: not provided 19,741,203(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ALDH3A1 Gene

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)

Additional Variant Information 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

(10) MalaCards diseases for ALDH3A1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
conjunctival degeneration
sjogren-larsson syndrome
  • sls
borna disease
  • enzootic encephalomyelitis
breast adenocarcinoma
  • adenocarcinoma of breast
smith-magenis syndrome
  • sms
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ALDH3A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 LC … Yoshida A (The Journal of biological chemistry 1992) 2 3 4 23
  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 AD (Pharmacogenetics and genomics 2008) 3 23 41
  3. Relations between polymorphisms in drug-metabolising enzymes and toxicity of chemotherapy with cyclophosphamide, thiotepa and carboplatin. (PMID: 18854779) Ekhart C … Huitema AD (Pharmacogenetics and genomics 2008) 3 23 41
  4. Mutations associated with Sjögren-Larsson syndrome. (PMID: 9250352) Tsukamoto N … Yoshida A (Annals of human genetics 1997) 3 4 23
  5. Human stomach aldehyde dehydrogenase, ALDH3. (PMID: 8493892) Hsu LC … Yoshida A (Advances in experimental medicine and biology 1993) 3 4 23

ExternalLinks

View latest publications for ALDH3A1 gene in Mastermind

Products for ALDH3A1 Gene

Sources for ALDH3A1 Gene