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    ALDH7A1 aldehyde dehydrogenase 7 family, member A1 [ Homo sapiens (human) ]

    Gene ID: 501, updated on 11-May-2013
    Official Symbol
    ALDH7A1provided by HGNC
    Official Full Name
    aldehyde dehydrogenase 7 family, member A1provided by HGNC
    Primary source
    HGNC:877
    See related
    Ensembl:ENSG00000164904; HPRD:00124; MIM:107323; Vega:OTTHUMG00000128942
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EPD; PDE; ATQ1
    Summary
    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]
    Location :
    5q31
    Sequence :
    Chromosome: 5; NC_000005.9 (125877533..125931082, complement)
    See ALDH7A1 in Epigenomics, MapViewer

    Chromosome 5 - NC_000005.9Genomic Context describing neighboring genes Neighboring gene ribosomal protein SA pseudogene 37 Neighboring gene GRAM domain containing 3 Neighboring gene ribosomal protein, large, P1 pseudogene 7 Neighboring gene phosphorylated adaptor for RNA export

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene. Tlili A, et al. Gene, 2013 Apr 15. PMID 23376216.
    2. A high-throughput approach for measuring temporal changes in the interactome. Kristensen AR, et al. Nat Methods, 2012 Sep. PMID 22863883.
    3. Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy. Coulter-Mackie MB, et al. Mol Genet Metab, 2012 Aug. PMID 22784480.
    4. Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1. Milh M, et al. Mol Genet Metab, 2012 Apr. PMID 22305855.
    5. The measurement of urinary Δ¹-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency. Struys EA, et al. J Inherit Metab Dis, 2012 Sep. PMID 22249334.

    See all (42) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. molecular analysis of seven Pyridoxine-dependent epilepsy Tunisian patients revealed a common missense c.1364T>C mutation in the ALDH7A1 gene; the conservation of a single genotype within the c.1364T > C mutation suggested that this variation has a single origin
      Title: Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene.
    2. Ongoing diagnostic screening and monitoring revealed that in some individuals with milder ALDH7A1 variants.
      Title: The measurement of urinary Δ¹-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency.
    3. The effects of a series of twelve disease-associated ALDH7A1 missense mutations on antiquitin activity, were characterized.
      Title: Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.
    4. Atypical pyridoxine-dependent epilepsy is due to a pseudoexon in ALDH7A1.
      Title: Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1.
    5. The aldehyde dehydrogenase enzyme 7A1 is functionally involved in prostate cancer bone metastasis.
      Title: The aldehyde dehydrogenase enzyme 7A1 is functionally involved in prostate cancer bone metastasis.
    6. the structural basis for the substrate specificity
      Title: Human antiquitin: structural and functional studies.
    7. ALDH7A1 mechanistically appears to provide cells protection through multiple pathways
      Title: Aldehyde dehydrogenase 7A1 (ALDH7A1) attenuates reactive aldehyde and oxidative stress induced cytotoxicity.
    8. Report the genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.
      Title: The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.
    9. The antiquitin 1 oxidation could result in decreased pyridoxal 5-phosphate availability necessary as a cofactor in transaminations, synthesis of glutathione, and synthesis of GABA and dopamine, two neurotransmitters that play a key role in HD pathology.
      Title: Protein oxidation in Huntington disease affects energy production and vitamin B6 metabolism.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction See all (23)

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Pyridoxine-dependent epilepsy

    Summary from GeneReviews: Pyridoxine-Dependent Epilepsy Go to GeneReviews

    Disease Characteristics
    Pyridoxine-dependent epilepsy is characterized by intractable seizures that are not controlled with antiepileptic medications but that respond both clinically and electrographically to large daily supplements of pyridoxine (vitamin B6). Multiple types of clinical seizures have been reported in individuals with pyridoxine-dependent epilepsy. Although dramatic presentations consisting of prolonged seizures and recurrent episodes of status epilepticus are typical, recurrent self-limited events including partial seizures, generalized seizures, atonic seizures, myoclonic events, and infantile spasms also occur. Affected individuals may have electrographic seizures without clinical correlates. Infants with the classic neonatal presentation begin to experience seizures soon after birth. Atypical features include late-onset seizures (age </=3 years); seizures that initially respond to antiepileptic medications and then become intractable; seizures during early life that do not respond to pyridoxine but that are then controlled with pyridoxine several months later; and prolonged seizure-free intervals (</=5 1/2 months) that occur after pyridoxine discontinuation. Intellectual disability is common.
    Diagnosis Testing
    The diagnosis of pyridoxine-dependent epilepsy is typically made on clinical grounds and may be confirmed through biochemical and/or molecular genetic testing. Diagnosis may be made in individuals experiencing status epilepticus or repetitive clinical seizures that are not controlled with antiepileptic medications by concurrently administering 100 mg of pyridoxine intravenously while monitoring the EEG, oxygen saturation, and vital signs. In individuals with pyridoxine-dependent epilepsy, clinical seizures generally cease over several minutes. If a clinical response is not demonstrated, the dose should be repeated up to a maximum of 500 mg. A corresponding change should be observed in the EEG, although it may be delayed by several hours. Alternatively, in children who experience frequent antiepileptic medication-resistant self-limited seizures, oral pyridoxine at a dose of 30 mg/kg/day may be initiated. Children who are pyridoxine dependent should have a resolution of their clinical seizures within three to five days. Biochemical measurement of the biomarker alpha-aminoadipic semialdehyde (alpha-AASA) in urine and plasma is available in clinical laboratories, as is measurement of pipecolic acid in plasma and cerebrospinal fluid. Molecular genetic testing of ALDH7A1, the only gene in which mutations are known to cause pyridoxine-dependent epilepsy, is available in clinical laboratories.
    Genetic Counseling
    Pyridoxine-dependent epilepsy is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal diagnosis for pregnancies at increased risk are possible if both disease-causing mutations in a family are known.
    References
    Products Interactant Other Gene Complex Source Pubs Description
    P49419 O94762 RECQL5    HPRD  PubMed  
    BioGRID:106990 BioGRID:106848 APP    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106990 BioGRID:106932 ASNS    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106990 BioGRID:107274 CAPN2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106990 BioGRID:107276 CAPNS1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106990 BioGRID:122485 DDA1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106990 BioGRID:108298 EIF5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106990 BioGRID:108373 EPS8    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:106990 BioGRID:116175 FERMT2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106990 BioGRID:108814 G6PD    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106990 BioGRID:108981 GLA    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106990 BioGRID:109392 HMGB3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106990 BioGRID:110137 LDHB    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106990 BioGRID:114966 PDIA4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106990 BioGRID:111247 PGD    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106990 BioGRID:111493 PPP1CA    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106990 BioGRID:121884 SCPEP1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106990 BioGRID:114011 STK24    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106990 BioGRID:107575 TBCB    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106990 BioGRID:122964 UBA5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106990 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106990 BioGRID:113363 YWHAE    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106990 BioGRID:113364 YWHAG    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106990 BioGRID:113365 YWHAH    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106990 BioGRID:116168 YWHAQ    BioGRID  PubMed Affinity Capture-MS 

    Markers

    Genotypes

    Homology

    Clone Names

    • FLJ11738, FLJ92814

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    L-aminoadipate-semialdehyde dehydrogenase activity EXP
    Inferred from Experiment
    more info
    		  
    aldehyde dehydrogenase (NAD) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    betaine-aldehyde dehydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		  
    Process Evidence Code Pubs
    cellular aldehyde metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    cellular nitrogen compound metabolic process TAS
    Traceable Author Statement
    more info
    		  
    glycine betaine biosynthetic process from choline IEA
    Inferred from Electronic Annotation
    more info
    		  
    lysine catabolic process TAS
    Traceable Author Statement
    more info
    		  
    sensory perception of sound TAS
    Traceable Author Statement
    more info
    		 PubMed 
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    alpha-aminoadipic semialdehyde dehydrogenase
    Names
    alpha-aminoadipic semialdehyde dehydrogenase
    antiquitin-1
    P6c dehydrogenase
    alpha-AASA dehydrogenase
    26g turgor protein homolog
    betaine aldehyde dehydrogenase
    delta1-piperideine-6-carboxylate dehydrogenase
    NP_001173.2
    NP_001188306.1
    NP_001189333.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008600.2 RefSeqGene

      Range
      5001..58550
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001182.4 → NP_001173.2  alpha-aminoadipic semialdehyde dehydrogenase isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes two isoforms resulting from the use of alternative in-frame translation initiation codons. The longer isoform (1) is derived from an upstream AUG (at nt 193-195), while the shorter isoform (2) is derived from a downstream AUG (at nt 277-279). This RefSeq represents the longer isoform, which resides in the mitochondria (PMIDs: 20207735 and 19885858).
      Source sequence(s)
      AC093535, AI039375, AK021800, AK123774, BC071712, BG680326, BU153725, CD678674, DB501575, DC375277
      Consensus CDS
      CCDS4137.2
      UniProtKB/Swiss-Prot
      P49419
      Related
      ENSP00000387123, OTTHUMP00000159189, ENST00000409134, OTTHUMT00000250921
      Conserved Domains (2) summary
      cd07130
      Location:53 – 527
      Blast Score: 2493
      ALDH_F7_AASADH; NAD+-dependent alpha-aminoadipic semialdehyde dehydrogenase, ALDH family members 7A1 and 7B
      PLN02315
      Location:36 – 538
      Blast Score: 1876
      PLN02315; aldehyde dehydrogenase family 7 member

    2. NM_001201377.1 → NP_001188306.1  alpha-aminoadipic semialdehyde dehydrogenase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes two isoforms resulting from the use of alternative in-frame translation initiation codons. The longer isoform (1) is derived from an upstream AUG (at nt 193-195), while the shorter isoform (2) is derived from a downstream AUG (at nt 277-279). This RefSeq represents the shorter isoform, which is found in the cytosol (PMIDs: 20207735 and 19885858).
      Source sequence(s)
      AC093535, AI039375, AK021800, AK123774, BC071712, BG680326, BU153725, CD678674, DB501575, DC375277
      UniProtKB/Swiss-Prot
      P49419
      Conserved Domains (2) summary
      cd07130
      Location:25 – 499
      Blast Score: 2488
      ALDH_F7_AASADH; NAD+-dependent alpha-aminoadipic semialdehyde dehydrogenase, ALDH family members 7A1 and 7B
      PLN02315
      Location:8 – 510
      Blast Score: 1872
      PLN02315; aldehyde dehydrogenase family 7 member

    3. NM_001202404.1 → NP_001189333.1  alpha-aminoadipic semialdehyde dehydrogenase isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is missing two in-frame coding exons compared to variant 1, resulting in a shorter isoform (3) lacking an internal protein segment compared to isoform 1.
      Source sequence(s)
      AC093535, AI039375, AK021800, AK123774, AK297365, BC071712, BG680326, BU153725, CD678674, DB501575, DC375277
      Consensus CDS
      CCDS56380.1
      UniProtKB/Swiss-Prot
      P49419
      Conserved Domains (2) summary
      COG1012
      Location:82 – 490
      Blast Score: 690
      PutA; NAD-dependent aldehyde dehydrogenases [Energy production and conversion]
      cd07130
      Location:80 – 490
      Blast Score: 2053
      ALDH_F7_AASADH; NAD+-dependent alpha-aminoadipic semialdehyde dehydrogenase, ALDH family members 7A1 and 7B

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000005.9 Reference GRCh37.p10 Primary Assembly

      Range
      125877533..125931082, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000137.1 Alternate HuRef

      Range
      121068235..121122325, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018916.1 Alternate CHM1_1.0

      Range
      126154466..126208013, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01068902.1 (17897..35935) None
    genomic ABBA01068903.1 None
    genomic ABBA01068904.1 None
    genomic AC093535.2 (132072..132710) None
    genomic AC099513.3 (53392..103248) None
    genomic AF002696.1 AAC51935.1
    genomic AMYH01015600.1 (276619..330166) None
    genomic CH471086.2 EAW48851.1
    mRNA AI039375.1 None
    mRNA AK021800.1 None
    mRNA AK092507.1 None
    mRNA AK123774.1 None
    mRNA AK295526.1 BAG58439.1
    mRNA AK297365.1 BAG59812.1
    mRNA AK312459.1 BAG35366.1
    mRNA AU135961.1 None
    mRNA BC002515.2 AAH02515.3
    mRNA BC071712.1 AAH71712.1
    mRNA BC073174.1 AAH73174.1
    mRNA BG680326.1 None
    mRNA BU153725.1 None
    mRNA CD678674.1 None
    mRNA DB501575.1 None
    mRNA DC375277.1 None
    mRNA S74728.1 AAB31966.1
    other-genetic EU831757.1 ACE87275.1
    other-genetic EU831835.1 ACE86594.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P49419.5 GenPept UniProtKB/Swiss-Prot:P49419

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

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        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
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        Link to related EST entry
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        Full text in PubMedCentral identified from shared sequence links
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      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
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        Citations in PubMed identified from shared sequence and PMC links.
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        Link to Protein RefSeqs
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        Link to Nucleotide RefSeq RNAs
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        Link to Nucleotide RefSeqGenes
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        Link to related taxonomy entry
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        Related UniSTS records

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