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

    Gene ID: 501, updated on 12-Mar-2017
    Official Symbol
    ALDH7A1provided by HGNC
    Official Full Name
    aldehyde dehydrogenase 7 family member A1provided by HGNC
    Primary source
    HGNC:HGNC:877
    See related
    Ensembl:ENSG00000164904 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]
    Orthologs
    Location:
    5q23.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (126541841..126595390, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (125877533..125931104, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927488 Neighboring gene uncharacterized LOC101927514 Neighboring gene GRAM domain containing 3 Neighboring gene phosphorylated adaptor for RNA export Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 7

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Pyridoxine-dependent epilepsy
    MedGen: C1849508 OMIM: 266100 GeneReviews: Pyridoxine-Dependent Epilepsy
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    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
    PubMed 
    aldehyde dehydrogenase (NAD) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    betaine-aldehyde dehydrogenase activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular aldehyde metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    choline catabolic 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
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    sensory perception of sound TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    26g turgor protein homolog
    P6c dehydrogenase
    alpha-AASA dehydrogenase
    antiquitin-1
    betaine aldehyde dehydrogenase
    delta1-piperideine-6-carboxylate dehydrogenase
    NP_001173.2
    NP_001188306.1
    NP_001189333.2

    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_001182.4NP_001173.2  alpha-aminoadipic semialdehyde dehydrogenase isoform 1 precursor

      See identical proteins and their annotated locations for NP_001173.2

      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 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 (1) summary
      cd07130
      Location:53527
      ALDH_F7_AASADH; NAD+-dependent alpha-aminoadipic semialdehyde dehydrogenase, ALDH family members 7A1 and 7B
    2. NM_001201377.1NP_001188306.1  alpha-aminoadipic semialdehyde dehydrogenase isoform 2

      See identical proteins and their annotated locations for NP_001188306.1

      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 (1) summary
      cd07130
      Location:25499
      ALDH_F7_AASADH; NAD+-dependent alpha-aminoadipic semialdehyde dehydrogenase, ALDH family members 7A1 and 7B
    3. NM_001202404.1NP_001189333.2  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
      CCDS56380.2
      UniProtKB/Swiss-Prot
      P49419
      Related
      ENSP00000414132, ENST00000447989
      Conserved Domains (1) summary
      cd07130
      Location:53463
      ALDH_F7_AASADH; NAD+-dependent alpha-aminoadipic semialdehyde dehydrogenase, ALDH family members 7A1 and 7B

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      126541841..126595390 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543417.2XP_011541719.1  alpha-aminoadipic semialdehyde dehydrogenase isoform X1

      Conserved Domains (1) summary
      cd07130
      Location:1392
      ALDH_F7_AASADH; NAD+-dependent alpha-aminoadipic semialdehyde dehydrogenase, ALDH family members 7A1 and 7B
    2. XM_017009493.1XP_016864982.1  alpha-aminoadipic semialdehyde dehydrogenase isoform X1

      Related
      ENSP00000490371, OTTHUMP00000281908, ENST00000636886, OTTHUMT00000489227
      Conserved Domains (1) summary
      cd07130
      Location:1392
      ALDH_F7_AASADH; NAD+-dependent alpha-aminoadipic semialdehyde dehydrogenase, ALDH family members 7A1 and 7B

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      125309919..125363679 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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