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

Gene ID: 218, updated on 17-May-2023

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_2023_03 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (19737984..19748298, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (19686602..19696916, complement)
105.20220307 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 solute carrier family 47 member 2 Neighboring gene uncharacterized LOC124903948 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19619375-19620224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19620225-19621072 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19648320-19649287 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:19656044-19657243 Neighboring gene TBC1 domain family member 25 pseudogene

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
  • 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. Aldehyde dehydrogenase 3A1 confers oxidative stress resistance accompanied by altered DNA damage response in human corneal epithelial cells. Voulgaridou GP, et al. Free Radic Biol Med, 2020 Apr. PMID 32006654
  2. Gastric cancer depends on aldehyde dehydrogenase 3A1 for fatty acid oxidation. Lee JS, et al. Sci Rep, 2019 Nov 8. PMID 31705020, Free PMC Article
  3. Human aldehyde dehydrogenase 3A1 (ALDH3A1) exhibits chaperone-like function. Voulgaridou GP, et al. Int J Biochem Cell Biol, 2017 Aug. PMID 28526614
  4. Activation of Human Salivary Aldehyde Dehydrogenase by Sulforaphane: Mechanism and Significance. Alam MF, et al. PLoS One, 2016. PMID 27997560, Free PMC Article
  5. Aldehyde dehydrogenase 3A1 is robustly upregulated in gastric cancer stem-like cells and associated with tumorigenesis. Wu D, et al. Int J Oncol, 2016 Aug. PMID 27279633

See all (79) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. Gastric cancer depends on aldehyde dehydrogenase 3A1 for fatty acid oxidation.
    Title: Gastric cancer depends on aldehyde dehydrogenase 3A1 for fatty acid oxidation.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. ALDH-3A1 expression correlates well with gastric cancer dysplasia and grades, differentiation, lymph node metastasis and cancer stage.
    Title: Aldehyde dehydrogenase 3A1 is robustly upregulated in gastric cancer stem-like cells and associated with tumorigenesis.
Submit: New GeneRIF Correction See all GeneRIFs (34)

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)

Genotypes

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
 PubMed 
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
 PubMed 
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 cellular aldehyde metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in cellular 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
 PubMed 
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
    P30838, Q9BT37
    UniProtKB/TrEMBL
    Q6PKA6
    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
    P30838, Q9BT37
    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
    P30838, Q9BT37
    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
    I3L3I9, Q6PKA6
    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_2023_03

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
    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

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