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

    Gene ID: 224, updated on 7-Jan-2024

    Summary

    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; AllianceGenome:HGNC:403
    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]
    Expression
    Broad expression in skin (RPKM 108.4), adrenal (RPKM 94.0) and 22 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ALDH3A2 in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (19648136..19677596)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (19596758..19626215)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (19551449..19580909)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene MT-CO1 pseudogene 39 Neighboring gene SLC47A1 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11859 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:19550219-19550869 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:19550870-19551519 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11860 Neighboring gene uncharacterized LOC124900397 Neighboring gene NANOG hESC enhancer GRCh37_chr17:19567261-19567762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19584163-19584664 Neighboring gene solute carrier family 47 member 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:19609675-19610312 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:19610313-19610950 Neighboring gene uncharacterized LOC124903948 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19619375-19620224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19620225-19621072 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19648320-19649287 Neighboring gene aldehyde dehydrogenase 3 family member A1

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20851, DKFZp686E23276

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in peroxisomal membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    aldehyde dehydrogenase family 3 member A2
    Names
    aldehyde dehydrogenase 10
    fatty aldehyde dehydrogenase
    microsomal aldehyde dehydrogenase
    NP_000373.1
    NP_001026976.1
    NP_001356065.1
    NP_001356066.1
    NP_001356067.1
    NP_001356068.1
    NP_001356075.1
    NP_001356077.1
    XP_024306419.1
    XP_047291578.1
    XP_054171453.1
    XP_054171454.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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..33846
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000382.3NP_000373.1  aldehyde dehydrogenase family 3 member A2 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)
      AB208894, AC005722, AK123877, AK292381, DB261079
      Consensus CDS
      CCDS11210.1
      UniProtKB/Swiss-Prot
      P51648, Q6I9T3, Q93011, Q96J37
      UniProtKB/TrEMBL
      Q59H65
      Related
      ENSP00000176643.6, ENST00000176643.11
      Conserved Domains (1) summary
      cd07132
      Location:5444
      ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
    2. NM_001031806.2NP_001026976.1  aldehyde dehydrogenase family 3 member A2 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/TrEMBL
      A0A5F9ZGX4
      Related
      ENSP00000345774.4, ENST00000339618.8
      Conserved Domains (1) summary
      cd07132
      Location:5444
      ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
    3. NM_001369136.1NP_001356065.1  aldehyde dehydrogenase family 3 member A2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC005722, AC115989
      Consensus CDS
      CCDS32589.1
      UniProtKB/TrEMBL
      A0A5F9ZGX4
      Conserved Domains (1) summary
      cd07132
      Location:5444
      ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
    4. NM_001369137.2NP_001356066.1  aldehyde dehydrogenase family 3 member A2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC005722, AC115989
      Consensus CDS
      CCDS32589.1
      UniProtKB/TrEMBL
      A0A5F9ZGX4
      Conserved Domains (1) summary
      cd07132
      Location:5444
      ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
    5. NM_001369138.2NP_001356067.1  aldehyde dehydrogenase family 3 member A2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC005722, AC115989
      Consensus CDS
      CCDS11210.1
      UniProtKB/Swiss-Prot
      P51648, Q6I9T3, Q93011, Q96J37
      UniProtKB/TrEMBL
      Q59H65
      Related
      ENSP00000461916.2, ENST00000581518.6
      Conserved Domains (1) summary
      cd07132
      Location:5444
      ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
    6. NM_001369139.1NP_001356068.1  aldehyde dehydrogenase family 3 member A2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC005722, AC115989
      Consensus CDS
      CCDS11210.1
      UniProtKB/Swiss-Prot
      P51648, Q6I9T3, Q93011, Q96J37
      UniProtKB/TrEMBL
      Q59H65
      Related
      ENSP00000500092.1, ENST00000672357.1
      Conserved Domains (1) summary
      cd07132
      Location:5444
      ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
    7. NM_001369146.2NP_001356075.1  aldehyde dehydrogenase family 3 member A2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC005722, AC115989
      UniProtKB/TrEMBL
      A0A5F9ZHI5
      Related
      ENSP00000500380.1, ENST00000673136.1
      Conserved Domains (1) summary
      cl11961
      Location:5403
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
    8. NM_001369148.2NP_001356077.1  aldehyde dehydrogenase family 3 member A2 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC005722, AC115989
      UniProtKB/TrEMBL
      Q68D64
      Conserved Domains (1) summary
      cl11961
      Location:1251
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047435622.1XP_047291578.1  aldehyde dehydrogenase family 3 member A2 isoform X1

      UniProtKB/TrEMBL
      A0A5F9ZHI5
      Related
      ENSP00000500777.1, ENST00000672567.1
    2. XM_024450651.2XP_024306419.1  aldehyde dehydrogenase family 3 member A2 isoform X2

      UniProtKB/TrEMBL
      Q68D64
      Conserved Domains (1) summary
      cl11961
      Location:1251
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      19596758..19626215
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315478.1XP_054171453.1  aldehyde dehydrogenase family 3 member A2 isoform X1

      UniProtKB/TrEMBL
      A0A5F9ZHI5
    2. XM_054315479.1XP_054171454.1  aldehyde dehydrogenase family 3 member A2 isoform X2

      UniProtKB/TrEMBL
      Q68D64