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

    Gene ID: 218, updated on 14-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:405
    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]
    Expression
    Biased expression in esophagus (RPKM 74.7), stomach (RPKM 49.1) and 1 other tissue See more
    Orthologs
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    Genomic context

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    See ALDH3A1 in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (19737984..19748298, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (19686602..19696916, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (19641297..19651611, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900397 Neighboring gene aldehyde dehydrogenase 3 family member A2 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 ATAC-STARR-seq lymphoblastoid active region 11861 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:19656044-19657243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19662710-19663247 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19665775-19666275 Neighboring gene TBC1 domain family member 25 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11864 Neighboring gene unc-51 like autophagy activating kinase 2 Neighboring gene NADH:ubiquinone oxidoreductase subunit B4 pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Human stomach aldehyde dehydrogenase, ALDH3. Hsu LC, et al. Adv Exp Med Biol, 1993. PMID 8493892
    2. Effects of the ADH3, CYP2E1, and GSTP1 genetic polymorphisms on their expressions in Caucasian lung tissue. Yang M, et al. Lung Cancer, 2002 Oct. PMID 12367788
    3. Molecular mechanisms of ALDH3A1-mediated cellular protection against 4-hydroxy-2-nonenal. Black W, et al. Free Radic Biol Med, 2012 May 1. PMID 22406320, Free PMC Article
    4. Eukaryotic aldehyde dehydrogenase (ALDH) genes: human polymorphisms, and recommended nomenclature based on divergent evolution and chromosomal mapping. Vasiliou V, et al. Pharmacogenetics, 1999 Aug. PMID 10780262
    5. Aldehyde dehydrogenase 3A1 protects airway epithelial cells from cigarette smoke-induced DNA damage and cytotoxicity. Jang JH, et al. Free Radic Biol Med, 2014 Mar. PMID 24316006, Free PMC Article

    See all (80) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Hypoxia-induced ALDH3A1 promotes the proliferation of non-small-cell lung cancer by regulating energy metabolism reprogramming.
      Title: Hypoxia-induced ALDH3A1 promotes the proliferation of non-small-cell lung cancer by regulating energy metabolism reprogramming.
    2. ALDH3A1 overexpression in OSCC inhibits inflammation via phospho-Ser727 at STAT3 in tumor-associated macrophages.
      Title: ALDH3A1 overexpression in OSCC inhibits inflammation via phospho-Ser727 at STAT3 in tumor-associated macrophages.
    3. Association with Corneal Remodeling Related Genes, ALDH3A1, LOX, and SPARC Genes Variations in Korean Keratoconus Patients.
      Title: Association with Corneal Remodeling Related Genes, ALDH3A1, LOX, and SPARC Genes Variations in Korean Keratoconus Patients.
    4. Aldehyde dehydrogenase 3A1 confers oxidative stress resistance accompanied by altered DNA damage response in human corneal epithelial cells.
      Title: Aldehyde dehydrogenase 3A1 confers oxidative stress resistance accompanied by altered DNA damage response in human corneal epithelial cells.
    5. Exosomes carrying ALDOA and ALDH3A1 from irradiated lung cancer cells enhance migration and invasion of recipients by accelerating glycolysis.
      Title: Exosomes carrying ALDOA and ALDH3A1 from irradiated lung cancer cells enhance migration and invasion of recipients by accelerating glycolysis.
    6. Gastric cancer depends on aldehyde dehydrogenase 3A1 for fatty acid oxidation.
      Title: Gastric cancer depends on aldehyde dehydrogenase 3A1 for fatty acid oxidation.
    7. higher expression in fetal growth restriction-associated placentas but localized specifically to extravillous trophoblasts
      Title: Aldehyde dehydrogenase isoforms and inflammatory cell populations are differentially expressed in term human placentas affected by intrauterine growth restriction.
    8. ALDH3A1 appears to play an essential role in protecting cellular proteins against aggregation under stress conditions
      Title: Human aldehyde dehydrogenase 3A1 (ALDH3A1) exhibits chaperone-like function.
    9. ALDH3A1 confers a multi-modality resistance phenotype in MCF-7 cells
      Title: Aldehyde dehydrogenase 3A1 promotes multi-modality resistance and alters gene expression profile in human breast adenocarcinoma MCF-7 cells.
    10. Molecular docking analysis depicted that Sulforaphane fits into the active site of ALDH3A1, and facilitates the catalytic mechanism of the enzyme.
      Title: Activation of Human Salivary Aldehyde Dehydrogenase by Sulforaphane: Mechanism and Significance.
    Submit: New GeneRIF Correction See all GeneRIFs (35)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC10406

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3-chloroallyl aldehyde dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables alcohol dehydrogenase (NADP+) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables aldehyde dehydrogenase (NAD+) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables aldehyde dehydrogenase (NAD+) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables aldehyde dehydrogenase [NAD(P)+] activity TAS
    Traceable Author Statement
    more info
    		  
    enables benzaldehyde dehydrogenase (NAD+) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aldehyde metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in aldehyde metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in xenobiotic metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular space HDA PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    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
    NP_001317079.1
    XP_011522033.1
    XP_047291551.1
    XP_054171402.1
    XP_054171403.1

    NCBI Reference Sequences (RefSeq)

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    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
      5136..15445
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000691.5 → NP_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
      A8K828, P30838, Q9BT37
      UniProtKB/TrEMBL
      A8MYB8
      Related
      ENSP00000225740.6, ENST00000225740.11
      Conserved Domains (1) summary
      cd07132
      Location:5 → 447
      ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins

    2. NM_001135167.1 → NP_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
      A8K828, P30838, Q9BT37
      UniProtKB/TrEMBL
      A8MYB8
      Related
      ENSP00000388469.1, ENST00000444455.5
      Conserved Domains (1) summary
      cd07132
      Location:5 → 447
      ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins

    3. NM_001135168.1 → NP_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
      A8K828, P30838, Q9BT37
      UniProtKB/TrEMBL
      A8MYB8
      Related
      ENSP00000411821.2, ENST00000457500.6
      Conserved Domains (1) summary
      cd07132
      Location:5 → 447
      ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins

    4. NM_001330150.2 → NP_001317079.1  aldehyde dehydrogenase, dimeric NADP-preferring isoform 2

      Status: REVIEWED

      Source sequence(s)
      CD014087, CV575863
      Consensus CDS
      CCDS82090.1
      UniProtKB/TrEMBL
      B3KSJ6, I3L3I9
      Related
      ENSP00000460482.2, ENST00000494157.6
      Conserved Domains (1) summary
      cl11961
      Location:1 → 374
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      19737984..19748298 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011523731.3 → XP_011522033.1  aldehyde dehydrogenase, dimeric NADP-preferring isoform X2

      See identical proteins and their annotated locations for XP_011522033.1

      UniProtKB/TrEMBL
      B3KSJ6, I3L3I9
      Conserved Domains (1) summary
      cl11961
      Location:1 → 374
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

    2. XM_047435595.1 → XP_047291551.1  aldehyde dehydrogenase, dimeric NADP-preferring isoform X1

      Related
      ENST00000479677.6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      19686602..19696916 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315428.1 → XP_054171403.1  aldehyde dehydrogenase, dimeric NADP-preferring isoform X2

      UniProtKB/TrEMBL
      I3L3I9

    2. XM_054315427.1 → XP_054171402.1  aldehyde dehydrogenase, dimeric NADP-preferring isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P30838.3 GenPept UniProtKB/Swiss-Prot:P30838

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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