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    ALDH5A1 aldehyde dehydrogenase 5 family member A1 [ Homo sapiens (human) ]

    Gene ID: 7915, updated on 17-Feb-2018
    Official Symbol
    ALDH5A1provided by HGNC
    Official Full Name
    aldehyde dehydrogenase 5 family member A1provided by HGNC
    Primary source
    HGNC:HGNC:408
    See related
    Ensembl:ENSG00000112294 MIM:610045; Vega:OTTHUMG00000014356
    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
    SSDH; SSADH
    Summary
    This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in liver (RPKM 26.0), brain (RPKM 18.3) and 23 other tissues See more
    Orthologs
    Location:
    6p22.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (24494969..24537207)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (24495197..24537435)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene doublecortin domain containing 2 Neighboring gene RNA, U6 small nuclear 391, pseudogene Neighboring gene MRS2, magnesium transporter Neighboring gene glycosylphosphatidylinositol specific phospholipase D1 Neighboring gene KIAA0319 Neighboring gene keratin 8 pseudogene 43 Neighboring gene tyrosyl-DNA phosphodiesterase 2

    • 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?

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein homodimerization activity IC
    Inferred by Curator
    more info
    PubMed 
    succinate-semialdehyde dehydrogenase (NAD+) activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    succinate-semialdehyde dehydrogenase (NAD+) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    succinate-semialdehyde dehydrogenase (NAD+) activity TAS
    Traceable Author Statement
    more info
     
    succinate-semialdehyde dehydrogenase [NAD(P)+] activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    acetate metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    central nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    galactosylceramide metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    gamma-aminobutyric acid catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    gamma-aminobutyric acid catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    gamma-aminobutyric acid catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    glucose metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    glucosylceramide metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    glutamate decarboxylation to succinate IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    glutamate metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    glutamine metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    glutathione metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    glycerophospholipid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neurotransmitter catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    protein homotetramerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    respiratory electron transport chain ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    short-chain fatty acid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    succinate metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrion HDA PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    succinate-semialdehyde dehydrogenase, mitochondrial
    Names
    NAD(+)-dependent succinic semialdehyde dehydrogenase
    mitochondrial succinate semialdehyde dehydrogenase
    NP_001071.1
    NP_733936.1

    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_008161.1 RefSeqGene

      Range
      5001..47239
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001080.3NP_001071.1  succinate-semialdehyde dehydrogenase, mitochondrial isoform 2 precursor

      See identical proteins and their annotated locations for NP_001071.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame segment of the coding region, compared to variant 1. It encodes a shorter isoform (2), that is missing an internal segment compared to isoform 1.
      Source sequence(s)
      AJ427355, BC034321
      Consensus CDS
      CCDS4555.1
      UniProtKB/Swiss-Prot
      P51649
      UniProtKB/TrEMBL
      X5DQN2
      Related
      ENSP00000350191.3, OTTHUMP00000016088, ENST00000357578.7, OTTHUMT00000040007
      Conserved Domains (1) summary
      TIGR01780
      Location:78528
      SSADH; succinate-semialdehyde dehydrogenase
    2. NM_170740.1NP_733936.1  succinate-semialdehyde dehydrogenase, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_733936.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (1).
      Source sequence(s)
      AJ427354, AJ427355, BC034321
      Consensus CDS
      CCDS4556.1
      UniProtKB/Swiss-Prot
      P51649
      UniProtKB/TrEMBL
      X5D299
      Related
      ENSP00000314649.3, OTTHUMP00000214393, ENST00000348925.2, OTTHUMT00000353913
      Conserved Domains (1) summary
      TIGR01780
      Location:78541
      SSADH; succinate-semialdehyde dehydrogenase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      24494969..24537207
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      24499400..24541589
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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