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

Gene ID: 218, updated on 8-Jul-2018
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]
Expression
Biased expression in esophagus (RPKM 74.7), stomach (RPKM 49.1) and 1 other tissue See more
Orthologs
See ALDH3A1 in Genome Data Viewer
Location:
17p11.2
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
cellular aldehyde metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
oxidation-reduction process IDA
Inferred from Direct Assay
more info
PubMed 
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 HDA 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
NP_001317079.1
XP_005256579.1
XP_005256580.1
XP_005256581.1
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
    Related
    ENSP00000460482.2, ENST00000494157.6
    Conserved Domains (1) summary
    cl11961
    Location:1374
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 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_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
  3. XM_005256523.3XP_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
  4. XM_011523731.2XP_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
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