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 inv... See more...

Aliases for ALDH7A1 Gene

Aliases for ALDH7A1 Gene

  • Aldehyde Dehydrogenase 7 Family Member A1 2 3 5
  • Alpha-Aminoadipic Semialdehyde Dehydrogenase 2 3 4
  • 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
  • EPD 2 3
  • PDE 2 3
  • Delta1-Piperideine-6-Carboxylate Dehydrogenease 2
  • Aldehyde Dehydrogenase 7 Family, Member A1 2
  • Epididymis Secretory Sperm Binding Protein 3
  • 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 51
  • ALDH7A1 5

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 Hydrocephalus, Congenital, 1. Among its related pathways are Glucose metabolism and beta-Alanine metabolism (KEGG). Gene Ontology (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 ALDH1B1.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALDH7A1 Gene

Genomics for ALDH7A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ALDH7A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J126592 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 617.1 +1.2 1161 4 HNRNPL GATAD2A CTCF PRDM10 REST ZNF629 TFE3 IKZF1 KDM1A ZNF692 ALDH7A1 lnc-MARCH3-5 ENSG00000230929 TEX43 ENSG00000250602 GRAMD2B piR-30791-079 RF00017-4855
GH05J126596 Enhancer 0.7 ENCODE 615.7 -1.9 -1863 1.3 GATAD2A RCOR2 ZNF7 CEBPA SOX13 CEBPB FOXA2 FOS FOXP1 FOSL2 ALDH7A1 PHAX RF00017-4855
GH05J126599 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.9 -5.5 -5483 3.5 CTCF TEAD4 PRDM10 ZNF629 IKZF1 ZNF692 POLR2A BACH1 JUND FOXA1 PHAX ALDH7A1 RF00017-4855
GH05J126543 Enhancer 0.9 ENCODE dbSUPER 15.8 +51.5 51464 0.9 CTCF FOXA1 REST RAD21 SP1 TRIM22 ZNF600 FOXA2 SMC3 KDM6A ALDH7A1 PHAX ENSG00000230929 TEX43 ENSG00000250602 GRAMD2B HSALNG0044654 lnc-MARCH3-6
GH05J126775 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.7 -182.6 -182639 5.2 ARHGAP35 SP1 CREB1 GATAD2A CTCF HNRNPL ATF7 PRDM10 ZNF629 ZNF512 LMNB1 LMNB1-DT RNU6-752P ALDH7A1 RF00017-4856 MARCHF3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALDH7A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ALDH7A1

Top Transcription factor binding sites by QIAGEN in the ALDH7A1 gene promoter:
  • CUTL1
  • GCNF
  • GCNF-1
  • GCNF-2
  • Ik-1
  • IRF-7A
  • POU2F1a
  • PPAR-gamma1
  • PPAR-gamma2
  • SRY

Genomic Locations for ALDH7A1 Gene

Genomic Locations for ALDH7A1 Gene
chr5:126,531,200-126,595,362
(GRCh38/hg38)
Size:
64,163 bases
Orientation:
Minus strand
chr5:125,877,533-125,931,110
(GRCh37/hg19)
Size:
53,578 bases
Orientation:
Minus strand

Genomic View for ALDH7A1 Gene

Genes around ALDH7A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALDH7A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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; Evidence={ECO:0000305}; Sequence=AAH02515.3; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH71712.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH73174.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAG35366.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAG58439.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=BAG59812.1; Type=Erroneous initiation; Note=Extended N-terminus.; 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

Selected DME Specific Peptides for ALDH7A1 Gene

P49419:
  • FAAVGTAGQRCTT
  • GAEIGGAFGGEK
  • ITAFNFP
  • GSDCGIVNVN
  • LELGGNN
  • WKQYMRRST

Post-translational modifications for ALDH7A1 Gene

  • Ubiquitination at Lys452, Lys528, and Lys537
  • Modification sites at PhosphoSitePlus

Domains & Families for ALDH7A1 Gene

Gene Families for ALDH7A1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for ALDH7A1 Gene

InterPro:
Blocks:
  • Aldehyde dehydrogenase
ProtoNet:

Suggested Antigen Peptide Sequences for ALDH7A1 Gene

GenScript: Design optimal peptide antigens:
  • Delta1-piperideine-6-carboxylate dehydrogenase (AL7A1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P49419

UniProtKB/Swiss-Prot:

AL7A1_HUMAN :
  • Belongs to the aldehyde dehydrogenase family.
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 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(S)-2-amino-6-oxohexanoate + H2O + NADP(+) = 2 H(+) + L-2-aminoadipate + NADPH; Xref=Rhea:RHEA:12304, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58321, ChEBI:CHEBI:58349, ChEBI:CHEBI:58672; EC=1.2.1.31;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(S)-2-amino-6-oxohexanoate + H2O + NAD(+) = 2 H(+) + L-2-aminoadipate + NADH; Xref=Rhea:RHEA:12308, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:58321, ChEBI:CHEBI:58672; EC=1.2.1.31;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=betaine aldehyde + H2O + NAD(+) = betaine + 2 H(+) + NADH; Xref=Rhea:RHEA:15305, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15710, ChEBI:CHEBI:17750, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.2.1.8;.
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=1.2.1.3;.
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};

Enzyme Numbers (IUBMB) for ALDH7A1 Gene

Phenotypes From GWAS Catalog 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 IEA --
GO:0005515 protein binding IPI 21988832
GO:0008802 betaine-aldehyde dehydrogenase activity TAS --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with ALDH7A1: view
genes like me logo Genes that share phenotypes with ALDH7A1: view

Human Phenotype Ontology for ALDH7A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for ALDH7A1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALDH7A1

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

Cytoplasm, cytosol. Nucleus.
[Isoform 1]: Mitochondrion.

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 ALDH7A1 gene
Compartment Confidence
mitochondrion 5
cytosol 5
extracellular 4
nucleus 4
plasma membrane 3
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Mitochondria (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ALDH7A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA,IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol IEA,IDA --
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

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:0019285 glycine betaine biosynthetic process from choline IEA --
GO:0042426 choline catabolic process TAS --
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

(17) Drugs for ALDH7A1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Pyridoxine Approved, Investigational, Vet_approved Nutra 229,229
acetic acid Approved Pharma Agonist, Full agonist 139
gamma-Aminobutyric acid Approved, Investigational Pharma 25
Water Approved Pharma 0

(28) Additional Compounds for ALDH7A1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(S)-2-amino-6-oxohexanoate
  • 2-amino-6-oxo-HEXANOIC ACID
  • 6-oxo-L-Norleucine
  • Allysine
  • L-2-Aminoadipate 6-semialdehyde
  • L-6-Oxonorleucine
(S)-Methylmalonic acid semialdehyde
  • (S)-Methylmalonate semialdehyde
  • (2S)-2-Methyl-3-oxopropanoate
  • (2S)-2-Methyl-3-oxopropanoic acid
99043-16-0
2-Propyn-1-al
  • Formylacetylene
  • Propargylaldehyde
  • Propioaldehyde
  • Propiolaldehyde
3a,7a-Dihydroxy-5b-cholestan-26-al
  • 3alpha,7alpha-Dihydroxy-5beta-cholestan-27-al
  • 5beta-Cholestan-27-al-3alpha,7alpha-diol
  • 5beta-Cholestane-3alpha,7alpha-diol-27-al
3-Aminopropionaldehyde
  • beta-Aminopropion aldehyde
  • b-Aminopropion aldehyde
  • β-aminopropion aldehyde
  • 3-Aminopropanal
352-92-1
genes like me logo Genes that share compounds with ALDH7A1: view

Transcripts for ALDH7A1 Gene

mRNA/cDNA for ALDH7A1 Gene

3 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
37 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 ALDH7A1

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

Expression for ALDH7A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ALDH7A1 Gene



Protein tissue co-expression partners for ALDH7A1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ALDH7A1

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.

Evidence on tissue expression from TISSUES for ALDH7A1 Gene

  • Nervous system(5)
  • Liver(4.7)
  • Kidney(4.7)
  • Heart(3.5)
  • Eye(3.5)
  • Muscle(3.4)
  • Skin(3.3)
  • Lung(3.2)
  • Blood(3)
  • Intestine(2.9)
  • Thyroid gland(2.8)
  • Adrenal gland(2.8)
  • Pancreas(2.6)
  • Stomach(2.4)
  • Lymph node(2.3)
  • Spleen(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALDH7A1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • head
Thorax:
  • lung
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with ALDH7A1: view

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
Chimpanzee
(Pan troglodytes)
Mammalia ALDH7A1 30
  • 99.44 (n)
Cow
(Bos Taurus)
Mammalia ALDH7A1 30 31
  • 90.97 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ALDH7A1 30 31
  • 90.6 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ALDH7A1 31
  • 87 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ALDH7A1 31
  • 87 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Aldh7a1 30
  • 85.96 (n)
Mouse
(Mus musculus)
Mammalia Aldh7a1 30 17 31
  • 85.53 (n)
OneToOne
Chicken
(Gallus gallus)
Aves ALDH7A1 30 31
  • 79.07 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ALDH7A1 31
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia aldh7a1 30
  • 75.93 (n)
Str.6738 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.25586 30
Zebrafish
(Danio rerio)
Actinopterygii aldh7a1 30 31
  • 75.08 (n)
OneToOne
Dr.2430 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8299 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG9629 30 31 32
  • 55.77 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000881 30
  • 55.36 (n)
Worm
(Caenorhabditis elegans)
Secernentea alh-9 30 31
  • 61.63 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons ALDH7B4 30
  • 59.27 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6085 30
Soybean
(Glycine max)
eudicotyledons Gma.15232 30
Rice
(Oryza sativa)
Liliopsida Os09g0440300 30
  • 59.87 (n)
Os.7932 30
Barley
(Hordeum vulgare)
Liliopsida Hv.2703 30
Corn
(Zea mays)
Liliopsida Zm.4839 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10347 31
  • 62 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4896 30
Species where no ortholog for ALDH7A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for ALDH7A1: view image

Paralogs for ALDH7A1 Gene

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

  • AL7A1_HUMAN
  • F8VS02_HUMAN
  • F8VVF2_HUMAN
  • F8WD33_HUMAN
  • F8WDY6_HUMAN
  • H0YHM6_HUMAN

Pseudogenes.org Pseudogenes for ALDH7A1 Gene

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

Variants for ALDH7A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ALDH7A1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
638860 Uncertain Significance: Pyridoxine-dependent epilepsy 126,595,181(-) G/A SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
640232 Uncertain Significance: Pyridoxine-dependent epilepsy 126,582,938(-) C/T MISSENSE_VARIANT
646374 Uncertain Significance: Pyridoxine-dependent epilepsy 126,552,068(-) C/T MISSENSE_VARIANT
646791 Likely Pathogenic: Pyridoxine-dependent epilepsy 126,595,007(-) C/G MISSENSE_VARIANT
647989 Uncertain Significance: Pyridoxine-dependent epilepsy 126,546,342(-) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ALDH7A1 Gene

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

Variant ID Type Subtype PubMed ID
esv2677758 CNV deletion 23128226
esv3400328 CNV insertion 20981092
esv3566601 CNV deletion 23714750
esv3606678 CNV gain 21293372
esv3606679 CNV gain 21293372
esv3606680 CNV gain 21293372
nsv1030016 CNV gain 25217958
nsv462442 CNV gain 19166990
nsv599662 CNV gain 21841781

Variation tolerance for ALDH7A1 Gene

Residual Variation Intolerance Score: 66.2% 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)

Additional Variant Information for ALDH7A1 Gene

Human Gene Mutation Database (HGMD)
ALDH7A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALDH7A1

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

Disorders for ALDH7A1 Gene

MalaCards: The human disease database

(23) MalaCards diseases for ALDH7A1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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.

Additional Disease Information for ALDH7A1

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 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 AB … Morton CC (Genomics 1997) 2 3 4 23
  2. Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress. (PMID: 20207735) Brocker C … Vasiliou V (The Journal of biological chemistry 2010) 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 (Human mutation 2007) 3 4 23
  4. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. (PMID: 16491085) Mills PB … Clayton PT (Nature medicine 2006) 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

Products for ALDH7A1 Gene

  • Signalway ELISA kits for ALDH7A1

Sources for ALDH7A1 Gene