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    ALDH3A2 aldehyde dehydrogenase 3 family member A2 [ Homo sapiens (human) ]

    Gene ID: 224, updated on 20-Feb-2017
    Official Symbol
    ALDH3A2provided by HGNC
    Official Full Name
    aldehyde dehydrogenase 3 family member A2provided by HGNC
    Primary source
    HGNC:HGNC:403
    See related
    Ensembl:ENSG00000072210 MIM:609523; Vega:OTTHUMG00000059471
    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
    SLS; FALDH; ALDH10
    Summary
    Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    17p11.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (19648136..19677596)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (19552064..19580908)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 12 Neighboring gene mitochondrially encoded cytochrome c oxidase I pseudogene 39 Neighboring gene solute carrier family 47 member 2 Neighboring gene aldehyde dehydrogenase 3 family member A1

    • 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?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ20851, DKFZp686E23276

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    aldehyde dehydrogenase (NAD) activity EXP
    Inferred from Experiment
    more info
    PubMed 
    aldehyde dehydrogenase (NAD) activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    aldehyde dehydrogenase (NAD) activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    aldehyde dehydrogenase (NAD) activity TAS
    Traceable Author Statement
    more info
     
    aldehyde dehydrogenase [NAD(P)+] activity IEA
    Inferred from Electronic Annotation
    more info
     
    long-chain-alcohol oxidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular aldehyde metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular aldehyde metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    central nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    epidermis development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    fatty acid alpha-oxidation TAS
    Traceable Author Statement
    more info
     
    oxidation-reduction process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peripheral nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phytol metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sphingolipid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    peroxisomal membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    fatty aldehyde dehydrogenase
    Names
    aldehyde dehydrogenase 10
    aldehyde dehydrogenase family 3 member A2
    microsomal aldehyde dehydrogenase
    NP_000373.1
    NP_001026976.1

    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_007095.2 RefSeqGene

      Range
      5001..33845
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000382.2NP_000373.1  fatty aldehyde dehydrogenase isoform 2

      See identical proteins and their annotated locations for NP_000373.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate segment in the 3' coding region compared to variant 1. Isoform 2 has a shorter and different C-terminus, compared to isoform 1.
      Source sequence(s)
      AK123877, BC002430, L47162, U46689
      Consensus CDS
      CCDS11210.1
      UniProtKB/Swiss-Prot
      P51648
      Related
      ENSP00000176643, OTTHUMP00000065799, ENST00000176643, OTTHUMT00000132268
      Conserved Domains (1) summary
      cd07132
      Location:5444
      ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
    2. NM_001031806.1NP_001026976.1  fatty aldehyde dehydrogenase isoform 1

      See identical proteins and their annotated locations for NP_001026976.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC005722, AK123877, BC002430, BG699030
      Consensus CDS
      CCDS32589.1
      UniProtKB/Swiss-Prot
      P51648
      Related
      ENSP00000345774, OTTHUMP00000065800, ENST00000339618, OTTHUMT00000132269
      Conserved Domains (1) summary
      cd07132
      Location:5444
      ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins

    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_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      19648136..19677596
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011523733.1XP_011522035.1  fatty aldehyde dehydrogenase isoform X1

      See identical proteins and their annotated locations for XP_011522035.1

      UniProtKB/Swiss-Prot
      P51648
      Conserved Domains (1) summary
      cd07132
      Location:5444
      ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
    2. XM_017024358.1XP_016879847.1  fatty aldehyde dehydrogenase isoform X2

    3. XM_017024356.1XP_016879845.1  fatty aldehyde dehydrogenase isoform X3

      UniProtKB/Swiss-Prot
      P51648
      Conserved Domains (1) summary
      cd07132
      Location:5444
      ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
    4. XM_011523732.1XP_011522034.1  fatty aldehyde dehydrogenase isoform X1

      See identical proteins and their annotated locations for XP_011522034.1

      UniProtKB/Swiss-Prot
      P51648
      Conserved Domains (1) summary
      cd07132
      Location:5444
      ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
    5. XM_017024357.1XP_016879846.1  fatty aldehyde dehydrogenase isoform X3

      UniProtKB/Swiss-Prot
      P51648
      Related
      ENSP00000378942, OTTHUMP00000065801, ENST00000395575, OTTHUMT00000132271
      Conserved Domains (1) summary
      cd07132
      Location:5444
      ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
    6. XM_017024355.1XP_016879844.1  fatty aldehyde dehydrogenase isoform X2

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      19560917..19589757
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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