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ALDH3A2 aldehyde dehydrogenase 3 family member A2 [ Homo sapiens (human) ]

Gene ID: 224, updated on 19-Jun-2019

Summary

Official Symbol
ALDH3A2provided by HGNC
Official Full Name
aldehyde dehydrogenase 3 family member A2provided by HGNC
Primary source
HGNC:HGNC:403
See related
Ensembl:ENSG00000072210 MIM:609523
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
SLS; FALDH; ALDH10
Summary
Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in skin (RPKM 108.4), adrenal (RPKM 94.0) and 22 other tissues See more
Orthologs

Genomic context

See ALDH3A2 in Genome Data Viewer
Location:
17p11.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (19648150..19677596)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (19552064..19580908)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene MT-ND2 pseudogene 12 Neighboring gene MT-CO1 pseudogene 39 Neighboring gene solute carrier family 47 member 2 Neighboring gene aldehyde dehydrogenase 3 family member A1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20851, DKFZp686E23276

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3-chloroallyl aldehyde dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
aldehyde dehydrogenase (NAD) activity IDA
Inferred from Direct Assay
more info
PubMed 
aldehyde dehydrogenase (NAD) activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity IEA
Inferred from Electronic Annotation
more info
 
long-chain-alcohol oxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
long-chain-aldehyde dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
medium-chain-aldehyde dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular aldehyde metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
cellular aldehyde metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
central nervous system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
epidermis development IMP
Inferred from Mutant Phenotype
more info
PubMed 
fatty acid alpha-oxidation TAS
Traceable Author Statement
more info
 
hexadecanal metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
oxidation-reduction process IDA
Inferred from Direct Assay
more info
PubMed 
peripheral nervous system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
phytol metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
sphingolipid biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
PubMed 
peroxisomal membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
fatty aldehyde dehydrogenase
Names
aldehyde dehydrogenase 10
aldehyde dehydrogenase family 3 member A2
microsomal aldehyde dehydrogenase
NP_000373.1
NP_001026976.1
NP_001356065.1
NP_001356066.1
NP_001356067.1
NP_001356068.1
NP_001356075.1
NP_001356077.1
XP_024306419.1

NCBI Reference Sequences (RefSeq)

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_007095.2 RefSeqGene

    Range
    5001..33845
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000382.3NP_000373.1  fatty aldehyde dehydrogenase isoform 2

    See identical proteins and their annotated locations for NP_000373.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate segment in the 3' coding region compared to variant 1. Isoform 2 has a shorter and different C-terminus, compared to isoform 1.
    Source sequence(s)
    AB208894, AC005722, AK123877, AK292381, DB261079
    Consensus CDS
    CCDS11210.1
    UniProtKB/Swiss-Prot
    P51648
    Related
    ENSP00000176643.6, ENST00000176643.10
    Conserved Domains (1) summary
    cd07132
    Location:5444
    ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
  2. NM_001031806.2NP_001026976.1  fatty aldehyde dehydrogenase isoform 1

    See identical proteins and their annotated locations for NP_001026976.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC005722, AK123877, BC002430, BG699030
    Consensus CDS
    CCDS32589.1
    UniProtKB/Swiss-Prot
    P51648
    Related
    ENSP00000345774.4, ENST00000339618.8
    Conserved Domains (1) summary
    cd07132
    Location:5444
    ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
  3. NM_001369136.1NP_001356065.1  fatty aldehyde dehydrogenase isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC005722, AC115989
  4. NM_001369137.1NP_001356066.1  fatty aldehyde dehydrogenase isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC005722, AC115989
  5. NM_001369138.1NP_001356067.1  fatty aldehyde dehydrogenase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC005722, AC115989
  6. NM_001369139.1NP_001356068.1  fatty aldehyde dehydrogenase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC005722, AC115989
  7. NM_001369146.1NP_001356075.1  fatty aldehyde dehydrogenase isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC005722, AC115989
  8. NM_001369148.1NP_001356077.1  fatty aldehyde dehydrogenase isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC005722, AC115989
    Conserved Domains (1) summary
    cl11961
    Location:1251
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    19648150..19677596
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450651.1XP_024306419.1  fatty aldehyde dehydrogenase isoform X4

    Conserved Domains (1) summary
    cl11961
    Location:1251
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
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