U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 218, updated on 2-Nov-2024

Summary

Go to the top of the page Help
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
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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 cellular aldehyde metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
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

Go to the top of the page Help
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)

Go to the top of the page Help

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_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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous