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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
  • ATQ1 3 4 6
  • Delta1-Piperideine-6-Carboxylate Dehydrogenase 3 4
  • Alpha-Aminoadipic Semialdehyde Dehydrogenase 2 3
  • Betaine Aldehyde Dehydrogenase 3 4
  • 26g Turgor Protein Homolog 2 3
  • Antiquitin-1 3 4
  • EPD 3 6
  • PDE 3 6
  • Delta1-Piperideine-6-Carboxylate Dehydrogenease 2
  • Aldehyde Dehydrogenase Family 7 Member A1 4
  • Antiquitin 1 2
  • EC 1.2.1.31 4
  • EC 1.2.1.3 4
  • EC 1.2.1.8 4
  • EC 1.2.1 63

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 aldehyde dehydrogenase (NAD) activity and betaine-aldehyde dehydrogenase activity. 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

Start:
126,541,841 bp from pter
End:
126,595,418 bp from pter
Size:
53,578 bases
Orientation:
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:
    P49419-AL7A1_HUMAN
    Recommended name:
    Alpha-aminoadipic semialdehyde dehydrogenase
    Protein Accession:
    P49419
    Secondary Accessions:
    • B2R669
    • B4DIC7
    • B4DMA0
    • E7EPT3
    • O14619
    • Q6IPU8
    • Q9BUL4

    Protein attributes for ALDH7A1 Gene

    Size:
    539 amino acids
    Molecular mass:
    58487 Da
    Quaternary structure:
    • Homotetramer.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

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 Lys452, Lys528, and Lys537
  • Modification sites at PhosphoSitePlus

Other Protein References for ALDH7A1 Gene

Antibody Products

Domains for ALDH7A1 Gene

Gene Families for ALDH7A1 Gene

HGNC:
  • ALDH :Aldehyde dehydrogenases

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

P49419

UniProtKB/Swiss-Prot:

AL7A1_HUMAN :
  • P49419
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
genes like me logo Genes that share phenotypes with ALDH7A1: view

Animal Model Products

CRISPR Products

miRNA for ALDH7A1 Gene

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 Targeting 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

COMPARTMENTS
Jensen Localization Image for ALDH7A1 Gene COMPARTMENTS Subcellular localization image for ALDH7A1 gene
Compartment Confidence
cytosol 5
mitochondrion 5
nucleus 5

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 for ALDH7A1 Gene

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

Pathways by source for ALDH7A1 Gene

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

Compounds for ALDH7A1 Gene

(31) HMDB Compounds for ALDH7A1 Gene

Compound Synonyms Cas Number PubMed IDs
(S)-Methylmalonic acid semialdehyde
  • (S)-Methylmalonate semialdehyde
99043-16-0
2-Propyn-1-al
Not Available
3a,7a-Dihydroxy-5b-cholestan-26-al
  • 3a,7a-Dihydroxy-5b-cholestan-26-al
Not Available
3-Butyn-1-al
52844-23-2
4-Acetamidobutanoic acid
  • N-Acetyl-4-aminobutanoate
3025-96-5

(1) Drugbank Compounds for ALDH7A1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
NADH
  • beta-DPNH
606-68-8 target

(3) Novoseek inferred chemical compound relationships for ALDH7A1 Gene

Compound -log(P) Hits PubMed IDs
alpha-aminoadipic semialdehyde 95.7 11
vitamin b6 83.4 6
acetaldehyde 44.2 1
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

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

Primer Products

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: - - - - -
SP5:
SP6:

Relevant External Links for ALDH7A1 Gene

GeneLoc Exon Structure for
ALDH7A1
ECgene alternative splicing isoforms for
ALDH7A1

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 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

P49419-AL7A1_HUMAN
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 expressions with ALDH7A1: view

In Situ Assay Products

No data available for mRNA 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
chimpanzee
(Pan troglodytes)
Mammalia ALDH7A1 35
  • 99.44 (n)
  • 99.44 (a)
cow
(Bos Taurus)
Mammalia ALDH7A1 35
  • 90.97 (n)
  • 94.99 (a)
ALDH7A1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALDH7A1 35
  • 90.6 (n)
  • 94.43 (a)
ALDH7A1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aldh7a1 35
  • 85.53 (n)
  • 88.31 (a)
Aldh7a1 16
Aldh7a1 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALDH7A1 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALDH7A1 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aldh7a1 35
  • 85.96 (n)
  • 88.87 (a)
chicken
(Gallus gallus)
Aves ALDH7A1 35
  • 79.07 (n)
  • 86.63 (a)
ALDH7A1 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALDH7A1 36
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.25586 35
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh7a1 35
  • 75.93 (n)
  • 85.32 (a)
Str.6738 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8299 35
zebrafish
(Danio rerio)
Actinopterygii aldh7a1 35
  • 75.08 (n)
  • 84.54 (a)
aldh7a1 36
  • 81 (a)
OneToOne
Dr.2430 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000881 35
  • 55.36 (n)
  • 58.53 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG9629 35
  • 55.77 (n)
  • 56.98 (a)
CG9629 36
  • 55 (a)
OneToOne
CG9629 37
  • 57 (a)
worm
(Caenorhabditis elegans)
Secernentea alh-9 35
  • 61.63 (n)
  • 64.9 (a)
alh-9 36
  • 63 (a)
OneToOne
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6085 35
soybean
(Glycine max)
eudicotyledons Gma.15232 35
thale cress
(Arabidopsis thaliana)
eudicotyledons ALDH7B4 35
  • 59.27 (n)
  • 60.2 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.2703 35
corn
(Zea mays)
Liliopsida Zm.4839 35
rice
(Oryza sativa)
Liliopsida Os.7932 35
Os09g0440300 35
  • 59.87 (n)
  • 59.8 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4896 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10347 36
  • 62 (a)
OneToOne
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

ENSEMBL:
Gene Tree for ALDH7A1 (if available)
TreeFam:
Gene Tree for ALDH7A1 (if available)

Paralogs for ALDH7A1 Gene

Selected SIMAP similar genes for ALDH7A1 Gene using alignment to 6 proteins:

Pseudogenes.org 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
rs1807 -- 126,544,158(+) TTCAC(C/G)ATATC utr-variant-3-prime
rs2775 -- 126,544,897(-) AAGAA(A/G)ATTAA utr-variant-3-prime
rs744720 -- 126,543,224(-) TTTGT(A/T)CCTCT utr-variant-3-prime
rs744721 -- 126,543,217(-) CTCTT(A/T)GTTCT utr-variant-3-prime
rs744722 -- 126,543,216(-) TCTTT(G/T)TTCTT utr-variant-3-prime

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

Relevant External Links for ALDH7A1 Gene

HapMap Linkage Disequilibrium report
ALDH7A1
Human Gene Mutation Database (HGMD)
ALDH7A1
Locus Specific Mutation Databases (LSDB)
ALDH7A1

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

Disorders for ALDH7A1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for ALDH7A1 Gene including...

Search for ALDH7A1 Gene in MalaCards »

(1) OMIM Diseases for ALDH7A1 Gene (107323)

UniProtKB/Swiss-Prot

AL7A1_HUMAN
  • 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.

(1) University of Copenhagen DISEASES for ALDH7A1 Gene

Relevant External Links for ALDH7A1

GeneTests
ALDH7A1
GeneReviews
ALDH7A1
Genetic Association Database (GAD)
ALDH7A1
Human Genome Epidemiology (HuGE) Navigator
ALDH7A1
genes like me logo Genes that share disorders with ALDH7A1: view

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 3 4 23
  2. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. (PMID: 16491085) Mills P.B. … Clayton P.T. (Nat. Med. 2006) 3 4 23
  3. Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. (PMID: 17068770) Plecko B. … Erwa W. (Hum. Mutat. 2007) 3 4 23
  4. 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) 3 4 23
  5. Homology between a human protein and a protein of the green garden pea. (PMID: 8088832) Lee P. … Beutler E. (Genomics 1994) 3 4 23

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