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Aliases for ALDH7A1 Gene

Aliases for ALDH7A1 Gene

  • Aldehyde Dehydrogenase 7 Family, Member A1 2 3
  • Alpha-AASA Dehydrogenase 2 3 4
  • P6c Dehydrogenase 2 3 4
  • Delta1-Piperideine-6-Carboxylate Dehydrogenase 3 4
  • Betaine Aldehyde Dehydrogenase 3 4
  • 26g Turgor Protein Homolog 2 3
  • Antiquitin-1 3 4
  • ATQ1 3 4
  • Delta1-Piperideine-6-Carboxylate Dehydrogenease 2
  • Alpha-Aminoadipic Semialdehyde Dehydrogenase 2
  • Aldehyde Dehydrogenase Family 7 Member A1 4
  • Antiquitin 1 2
  • EC 4
  • EC 4
  • EC 4
  • EC 1.2.1 63
  • EPD 3
  • PDE 3

External Ids for ALDH7A1 Gene

Previous HGNC Symbols for ALDH7A1 Gene

  • ATQ1

Previous GeneCards Identifiers for ALDH7A1 Gene

  • GC05M125514
  • GC05M126254
  • GC05M125909
  • GC05M125956
  • GC05M125908
  • GC05M121069
  • GC05M125877

Summaries for ALDH7A1 Gene

Entrez Gene Summary for ALDH7A1 Gene

  • The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011]

GeneCards Summary for ALDH7A1 Gene

ALDH7A1 (Aldehyde Dehydrogenase 7 Family, Member A1) is a Protein Coding gene. Diseases associated with ALDH7A1 include epilepsy, pyridoxine-dependent and folinic acid-responsive seizures. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor. An important paralog of this gene is ALDH1A2.

UniProtKB/Swiss-Prot for ALDH7A1 Gene

  • Multifunctional enzyme mediating important protective effects. Metabolizes betaine aldehyde to betaine, an important cellular osmolyte and methyl donor. Protects cells from oxidative stress by metabolizing a number of lipid peroxidation-derived aldehydes. Involved in lysine catabolism.

Gene Wiki entry for ALDH7A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALDH7A1 Gene

Genomics for ALDH7A1 Gene

Regulatory Elements for ALDH7A1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ALDH7A1 Gene

126,541,841 bp from pter
126,595,418 bp from pter
53,578 bases
Minus strand

Genomic View for ALDH7A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ALDH7A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH7A1 Gene

Proteins for ALDH7A1 Gene

  • Protein details for ALDH7A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Alpha-aminoadipic semialdehyde dehydrogenase
    Protein Accession:
    Secondary Accessions:
    • B2R669
    • B4DIC7
    • B4DMA0
    • E7EPT3
    • O14619
    • Q6IPU8
    • Q9BUL4

    Protein attributes for ALDH7A1 Gene

    539 amino acids
    Molecular mass:
    58487 Da
    Quaternary structure:
    • Homotetramer.
    • Sequence=AAC51935.1; Type=Frameshift; Positions=233, 268; Evidence={ECO:0000305}; Sequence=AAH02515.3; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH71712.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH73174.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAG35366.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ALDH7A1 Gene

    Alternative splice isoforms for ALDH7A1 Gene


neXtProt entry for ALDH7A1 Gene

Proteomics data for ALDH7A1 Gene at MOPED

Selected DME Specific Peptides for ALDH7A1 Gene

Post-translational modifications for ALDH7A1 Gene

  • Ubiquitination at Lys 452, Lys 528, and Lys 537
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for ALDH7A1 Gene

Gene Families for ALDH7A1 Gene

Protein Domains for ALDH7A1 Gene

Suggested Antigen Peptide Sequences for ALDH7A1 Gene

GenScript: Design optimal peptide antigens:

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 ALDH7A1: view

Function for ALDH7A1 Gene

Molecular function for ALDH7A1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=28.5 uM for nonanal {ECO:0000269 PubMed:20207735}; KM=5.3 uM for trans-2-nonenal {ECO:0000269 PubMed:20207735}; KM=39.1 uM for hexanal {ECO:0000269 PubMed:20207735}; KM=17.5 uM for octanal {ECO:0000269 PubMed:20207735}; KM=41.1 uM for betaine aldehyde {ECO:0000269 PubMed:20207735}; KM=169 uM for L-2-aminoadipate 6-semialdehyde {ECO:0000269 PubMed:20207735}; KM=530.2 uM for benzaldehyde {ECO:0000269 PubMed:20207735}; KM=647.4 uM for propanal {ECO:0000269 PubMed:20207735}; KM=7374.3 uM for glyceraldehyde {ECO:0000269 PubMed:20207735}; Vmax=364.9 nmol/min/mg enzyme toward nonanal {ECO:0000269 PubMed:20207735}; Vmax=34.9 nmol/min/mg enzyme toward trans-2-nonenal {ECO:0000269 PubMed:20207735}; Vmax=243.3 nmol/min/mg enzyme toward hexanal {ECO:0000269 PubMed:20207735}; Vmax=72.3 nmol/min/mg enzyme toward octanal {ECO:0000269 PubMed:20207735}; Vmax=101.4 nmol/min/mg enzyme toward betaine aldehyde {ECO:0000269 PubMed:20207735}; Vmax=276.2 nmol/min/mg enzyme toward L-2-aminoadipate 6- semialdehyde {ECO:0000269 PubMed:20207735}; Vmax=125.2 nmol/min/mg enzyme toward benzaldehyde {ECO:0000269 PubMed:20207735}; Vmax=69.9 nmol/min/mg enzyme toward propanal {ECO:0000269 PubMed:20207735}; Vmax=174 nmol/min/mg enzyme toward glyceraldehyde {ECO:0000269 PubMed:20207735};
UniProtKB/Swiss-Prot CatalyticActivity:
(S)-2-amino-6-oxohexanoate + NAD(P)(+) + H(2)O = L-2-aminoadipate + NAD(P)H
UniProtKB/Swiss-Prot CatalyticActivity:
Betaine aldehyde + NAD(+) + H(2)O = betaine + NADH
UniProtKB/Swiss-Prot CatalyticActivity:
An aldehyde + NAD(+) + H(2)O = a carboxylate + NADH
UniProtKB/Swiss-Prot Function:
Multifunctional enzyme mediating important protective effects. Metabolizes betaine aldehyde to betaine, an important cellular osmolyte and methyl donor. Protects cells from oxidative stress by metabolizing a number of lipid peroxidation-derived aldehydes. Involved in lysine catabolism.

Enzyme Numbers (IUBMB) for ALDH7A1 Gene

Gene Ontology (GO) - Molecular Function for ALDH7A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004029 aldehyde dehydrogenase (NAD) activity ISS --
GO:0004043 L-aminoadipate-semialdehyde dehydrogenase activity EXP --
GO:0005515 protein binding IPI 21988832
GO:0008802 betaine-aldehyde dehydrogenase activity IEA --
GO:0016491 oxidoreductase activity --
genes like me logo Genes that share ontologies with ALDH7A1: view

Phenotypes for ALDH7A1 Gene

MGI mutant phenotypes for ALDH7A1:
inferred from 1 alleles
GenomeRNAi human phenotypes for ALDH7A1:
genes like me logo Genes that share phenotypes with ALDH7A1: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ALDH7A1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ALDH7A1 Gene

Localization for ALDH7A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH7A1 Gene

Mitochondrion. Nucleus.
Isoform 2: Cytoplasm, cytosol.

Subcellular locations from

Jensen Localization Image for ALDH7A1 Gene COMPARTMENTS Subcellular localization image for ALDH7A1 gene
Compartment Confidence
cytosol 5
extracellular 5
mitochondrion 4
nucleus 3
plasma membrane 2
cytoskeleton 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ALDH7A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with ALDH7A1: view

Pathways & Interactions for ALDH7A1 Gene

genes like me logo Genes that share pathways with ALDH7A1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot P49419-AL7A1_HUMAN

  • Pathway: Amine and polyamine biosynthesis; betaine biosynthesis via choline pathway; betaine from betaine aldehyde: step 1/1

Gene Ontology (GO) - Biological Process for ALDH7A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006081 cellular aldehyde metabolic process ISS --
GO:0006554 lysine catabolic process TAS --
GO:0007605 sensory perception of sound TAS 9417906
GO:0008152 metabolic process --
GO:0019285 glycine betaine biosynthetic process from choline IEA --
genes like me logo Genes that share ontologies with ALDH7A1: view

No data available for SIGNOR curated interactions for ALDH7A1 Gene

Drugs & Compounds for ALDH7A1 Gene

(12) Drugs for ALDH7A1 Gene - From: HMDB, DrugBank, and NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pyridoxine Approved Nutra 152,152
acetic acid Approved Nutra Full agonist, Agonist 80
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
beta-Alanine Experimental Pharma Full agonist, Agonist Endogenous glycine agonist, more selective than taurine (Cat. No. 0209) 0

(33) Additional Compounds for ALDH7A1 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
  • 3alpha,7alpha-dihydroxy-5beta-cholestan-27-al
  • 5beta-cholestan-27-al-3alpha,7alpha-diol
  • 5beta-cholestane-3alpha,7alpha-diol-27-al
  • 17,20a-Dihydroxy-4-pregnen-3-one
  • 17,20a-Dihydroxy-Pregn-4-en-3-one
  • 17a,20a-Dihydroxy-4-pregnen-3-one
  • 17a,20a-Dihydroxypregn-4-ene-3-one
  • 17a,20a-Dihydroxyprogesterone
genes like me logo Genes that share compounds with ALDH7A1: view

Transcripts for ALDH7A1 Gene

Unigene Clusters for ALDH7A1 Gene

Aldehyde dehydrogenase 7 family, member A1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ALDH7A1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALDH7A1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - - -
SP2: - -
SP3: - -
SP4: - - - - -

Relevant External Links for ALDH7A1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ALDH7A1 Gene

mRNA expression in normal human tissues for ALDH7A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ALDH7A1 Gene

SOURCE GeneReport for Unigene cluster for ALDH7A1 Gene Hs.483239

mRNA Expression by UniProt/SwissProt for ALDH7A1 Gene

Tissue specificity: Abundant in hepatoma cells and fetal cochlea, ovary, eye, heart, adrenal gland, liver and kidney. Low levels present in adult peripheral blood leukocytes and fetal brain, thymus, spleen, skeletal muscle, lung and tongue.
genes like me logo Genes that share expression patterns with ALDH7A1: view

Protein tissue co-expression partners for ALDH7A1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein differential expression in normal tissues for ALDH7A1 Gene

Orthologs for ALDH7A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALDH7A1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ALDH7A1 35
  • 90.97 (n)
  • 94.99 (a)
ALDH7A1 36
  • 95 (a)
(Canis familiaris)
Mammalia ALDH7A1 35
  • 90.6 (n)
  • 94.43 (a)
ALDH7A1 36
  • 94 (a)
(Mus musculus)
Mammalia Aldh7a1 35
  • 85.53 (n)
  • 88.31 (a)
Aldh7a1 16
Aldh7a1 36
  • 88 (a)
(Pan troglodytes)
Mammalia ALDH7A1 35
  • 99.44 (n)
  • 99.44 (a)
(Rattus norvegicus)
Mammalia Aldh7a1 35
  • 85.96 (n)
  • 88.87 (a)
(Monodelphis domestica)
Mammalia ALDH7A1 36
  • 87 (a)
(Ornithorhynchus anatinus)
Mammalia ALDH7A1 36
  • 87 (a)
(Gallus gallus)
Aves ALDH7A1 35
  • 79.07 (n)
  • 86.63 (a)
ALDH7A1 36
  • 84 (a)
(Anolis carolinensis)
Reptilia ALDH7A1 36
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh7a1 35
  • 75.93 (n)
  • 85.32 (a)
Str.6738 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.25586 35
(Danio rerio)
Actinopterygii aldh7a1 35
  • 75.08 (n)
  • 84.54 (a)
Dr.2430 35
aldh7a1 36
  • 81 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8299 35
fruit fly
(Drosophila melanogaster)
Insecta CG9629 37
  • 57 (a)
CG9629 35
  • 55.77 (n)
  • 56.98 (a)
CG9629 36
  • 55 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000881 35
  • 55.36 (n)
  • 58.53 (a)
(Caenorhabditis elegans)
Secernentea alh-9 35
  • 61.63 (n)
  • 64.9 (a)
alh-9 36
  • 63 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons ALDH7B4 35
  • 59.27 (n)
  • 60.2 (a)
(Glycine max)
eudicotyledons Gma.15232 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6085 35
(Hordeum vulgare)
Liliopsida Hv.2703 35
(Oryza sativa)
Liliopsida Os.7932 35
Os09g0440300 35
  • 59.87 (n)
  • 59.8 (a)
(Zea mays)
Liliopsida Zm.4839 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4896 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10347 36
  • 62 (a)
Species with no ortholog for ALDH7A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • 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)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ALDH7A1 Gene

Gene Tree for ALDH7A1 (if available)
Gene Tree for ALDH7A1 (if available)

Paralogs for ALDH7A1 Gene

(7) SIMAP similar genes for ALDH7A1 Gene using alignment to 6 proteins: Pseudogenes for ALDH7A1 Gene

genes like me logo Genes that share paralogs with ALDH7A1: view

Variants for ALDH7A1 Gene

Sequence variations from dbSNP and Humsavar for ALDH7A1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
VAR_028202 -
VAR_028203 -
VAR_031718 Pyridoxine-dependent epilepsy (PDE)
VAR_031719 Pyridoxine-dependent epilepsy (PDE)
VAR_069184 Pyridoxine-dependent epilepsy (PDE)

Structural Variations from Database of Genomic Variants (DGV) for ALDH7A1 Gene

Variant ID Type Subtype PubMed ID
esv2677758 CNV Deletion 23128226
nsv462442 CNV Gain 19166990

Variation tolerance for ALDH7A1 Gene

Residual Variation Intolerance Score: 66.24% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.67; 72.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALDH7A1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALDH7A1 Gene

Disorders for ALDH7A1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for ALDH7A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, pyridoxine-dependent
  • pyridoxine-dependent epilepsy
folinic acid-responsive seizures
eccrine adenocarcinoma
mucinous stomach adenocarcinoma
  • mucinous adenocarcinoma of the stomach
megakaryocytic tumor
  • megakaryocytic neoplasm
- elite association


  • Pyridoxine-dependent epilepsy (PDE) [MIM:266100]: Characterized by a combination of various seizure types. It usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride. {ECO:0000269 PubMed:16491085, ECO:0000269 PubMed:17068770}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ALDH7A1

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 ALDH7A1: view

No data available for Genatlas for ALDH7A1 Gene

Publications for ALDH7A1 Gene

  1. An ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1). (PMID: 9417906) Skvorak A.B. … Morton C.C. (Genomics 1997) 2 23 67
  2. Neonatal vitamin-responsive epileptic encephalopathies. (PMID: 20184790) Gospe S.M. (Chang Gung Med J 2010) 23 67
  3. Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress. (PMID: 20207735) Brocker C. … Vasiliou V. (J. Biol. Chem. 2010) 23 67
  4. Is antiquitin a mitochondrial Enzyme? (PMID: 19885858) Wong J.W. … Fong W.P. (J. Cell. Biochem. 2010) 23 67
  5. Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures. (PMID: 18717709) Striano P. … Jakobs C. (Epilepsia 2009) 23 67

Products for ALDH7A1 Gene

Sources for ALDH7A1 Gene

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