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    ALDH3A1 aldehyde dehydrogenase 3 family member A1 [ Homo sapiens (human) ]

    Gene ID: 218, updated on 7-May-2017
    Official Symbol
    ALDH3A1provided by HGNC
    Official Full Name
    aldehyde dehydrogenase 3 family member A1provided by HGNC
    Primary source
    HGNC:HGNC:405
    See related
    Ensembl:ENSG00000108602 MIM:100660; Vega:OTTHUMG00000059469
    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
    ALDH3; ALDHIII
    Summary
    Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. The enzyme encoded by this gene forms a cytoplasmic homodimer that preferentially oxidizes aromatic and medium-chain (6 carbons or more) saturated and unsaturated aldehyde substrates. It is thought to promote resistance to UV and 4-hydroxy-2-nonenal-induced oxidative damage in the cornea. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 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 (19737984..19748433, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (19641297..19651746, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene aldehyde dehydrogenase 3 family member A2 Neighboring gene solute carrier family 47 member 2 Neighboring gene TBC1 domain family member 25 pseudogene Neighboring gene unc-51 like autophagy activating kinase 2 Neighboring gene NADH:ubiquinone oxidoreductase subunit B4 pseudogene 3

    • 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

    • MGC10406

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    3-chloroallyl aldehyde dehydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    alcohol dehydrogenase (NADP+) activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    aldehyde dehydrogenase (NAD) activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    aldehyde dehydrogenase [NAD(P)+] activity TAS
    Traceable Author Statement
    more info
     
    benzaldehyde dehydrogenase (NAD+) activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    cellular aldehyde metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidation-reduction process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    response to cAMP IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to glucocorticoid IEA
    Inferred from Electronic Annotation
    more info
     
    response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    response to nutrient IEA
    Inferred from Electronic Annotation
    more info
     
    xenobiotic metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    aldehyde dehydrogenase, dimeric NADP-preferring
    Names
    aldehyde dehydrogenase isozyme 3
    aldehyde dehydrogenase type III
    stomach aldehyde dehydrogenase
    NP_000682.3
    NP_001128639.1
    NP_001128640.1
    XP_005256579.1
    XP_005256580.1
    XP_005256581.1
    XP_011522032.1
    XP_011522033.1

    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_012251.1 RefSeqGene

      Range
      5001..15450
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000691.4NP_000682.3  aldehyde dehydrogenase, dimeric NADP-preferring isoform 1

      See identical proteins and their annotated locations for NP_000682.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-3 encode the same isoform (1).
      Source sequence(s)
      BC004102, BC004370, BM979497, CV575863
      Consensus CDS
      CCDS11212.1
      UniProtKB/Swiss-Prot
      P30838
      UniProtKB/TrEMBL
      Q6PKA6
      Related
      ENSP00000225740.6, OTTHUMP00000065794, ENST00000225740.10, OTTHUMT00000132256
      Conserved Domains (1) summary
      cd07132
      Location:5447
      ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
    2. NM_001135167.1NP_001128639.1  aldehyde dehydrogenase, dimeric NADP-preferring isoform 1

      See identical proteins and their annotated locations for NP_001128639.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-3 encode the same isoform (1).
      Source sequence(s)
      BC004370, BM979497, CV575863, DA427150, DA445491
      Consensus CDS
      CCDS11212.1
      UniProtKB/Swiss-Prot
      P30838
      Related
      ENSP00000388469.1, ENST00000444455.5
      Conserved Domains (1) summary
      cd07132
      Location:5447
      ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
    3. NM_001135168.1NP_001128640.1  aldehyde dehydrogenase, dimeric NADP-preferring isoform 1

      See identical proteins and their annotated locations for NP_001128640.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1-3 encode the same isoform (1).
      Source sequence(s)
      AK292193, BM979497, CV575863
      Consensus CDS
      CCDS11212.1
      UniProtKB/Swiss-Prot
      P30838
      Related
      ENSP00000411821.2, OTTHUMP00000065798, ENST00000457500.6, OTTHUMT00000132265
      Conserved Domains (1) summary
      cd07132
      Location:5447
      ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
    4. NM_001330150.1NP_001317079.1  aldehyde dehydrogenase, dimeric NADP-preferring isoform 2

      Status: REVIEWED

      Source sequence(s)
      AK225513, BC004102, CD014087, CV575863
      Consensus CDS
      CCDS82090.1
      UniProtKB/TrEMBL
      I3L3I9, Q6PKA6
      Conserved Domains (1) summary
      cl11961
      Location:1374
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

    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
      19737984..19748433 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005256522.1XP_005256579.1  aldehyde dehydrogenase, dimeric NADP-preferring isoform X1

      See identical proteins and their annotated locations for XP_005256579.1

      Conserved Domains (1) summary
      cl11961
      Location:248564
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
    2. XM_011523730.1XP_011522032.1  aldehyde dehydrogenase, dimeric NADP-preferring isoform X2

      Related
      ENSP00000460482.2, OTTHUMP00000258922, ENST00000494157.6, OTTHUMT00000132260
      Conserved Domains (1) summary
      cl11961
      Location:1374
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
    3. XM_005256524.3XP_005256581.1  aldehyde dehydrogenase, dimeric NADP-preferring isoform X1

      See identical proteins and their annotated locations for XP_005256581.1

      Conserved Domains (1) summary
      cl11961
      Location:248564
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
    4. XM_005256523.2XP_005256580.1  aldehyde dehydrogenase, dimeric NADP-preferring isoform X1

      See identical proteins and their annotated locations for XP_005256580.1

      Conserved Domains (1) summary
      cl11961
      Location:248564
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
    5. XM_011523731.1XP_011522033.1  aldehyde dehydrogenase, dimeric NADP-preferring isoform X2

      See identical proteins and their annotated locations for XP_011522033.1

      UniProtKB/TrEMBL
      I3L3I9
      Conserved Domains (1) summary
      cl11961
      Location:1374
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      19650159..19660608 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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