ALDH3A2
Aldehyde dehydrogenase family 3 member A2
Also known as: AL3A2_HUMAN, ALDH10, FALDH, SLS
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P51648
- Gene
- ALDH3A2
- Ensembl
- ENSG00000072210
- Chromosome
- 17
- Canonical length
- 485 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Endoplasmic reticulum,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
485 residues, UniProt reviewed canonical sequence.
>P51648|ALDH3A2
1 MELEVRRVRQ AFLSGRSRPL RFRLQQLEAL RRMVQEREKD ILTAIAADLC KSEFNVYSQE
61 VITVLGEIDF MLENLPEWVT AKPVKKNVLT MLDEAYIQPQ PLGVVLIIGA WNYPFVLTIQ
121 PLIGAIAAGN AVIIKPSELS ENTAKILAKL LPQYLDQDLY IVINGGVEET TELLKQRFDH
181 IFYTGNTAVG KIVMEAAAKH LTPVTLELGG KSPCYIDKDC DLDIVCRRIT WGKYMNCGQT
241 CIAPDYILCE ASLQNQIVWK IKETVKEFYG ENIKESPDYE RIINLRHFKR ILSLLEGQKI
301 AFGGETDEAT RYIAPTVLTD VDPKTKVMQE EIFGPILPIV PVKNVDEAIN FINEREKPLA
361 LYVFSHNHKL IKRMIDETSS GGVTGNDVIM HFTLNSFPFG GVGSSGMGAY HGKHSFDTFS
421 HQRPCLLKSL KREGANKLRY PPNSQSKVDW GKFFLLKRFN KEKLGLLLLT FLGIVAAVLV
481 KAEYYLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ALDH3A2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.25
- Highest tissue expression
- 269 nTPM
Expression across tissuesHPA
Tissue
- liver: 269 nTPM
- skin: 196 nTPM
- adrenal gland: 191 nTPM
- kidney: 161 nTPM
- esophagus: 124 nTPM
- choroid plexus: 105 nTPM
Single-cell type
- esophageal apical cells: 341 nCPM
- alveolar cells type 1: 297 nCPM
- adrenal cortex cells: 278 nCPM
- esophageal suprabasal cells: 252 nCPM
- esophageal basal cells: 250 nCPM
- hepatocytes: 238 nCPM
Immune cell
- classical monocyte: 21 nTPM
- non-classical monocyte: 21 nTPM
- myeloid DC: 21 nTPM
- intermediate monocyte: 18 nTPM
- eosinophil: 18 nTPM
- NK-cell: 15 nTPM
Brain region
- choroid plexus: 137 nTPM
- white matter: 54 nTPM
- basal ganglia: 53 nTPM
- hippocampal formation: 46 nTPM
- hypothalamus: 45 nTPM
- cerebral cortex: 43 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ALDH3A2.
Disease | AllUniProt
Conditions ALDH3A2 is implicated in, by any mechanism.
- Sjoegren-Larsson syndrome (SLS) MIM:270200
Disease | GeneticClinVar
182 pathogenic / likely-pathogenic of 714 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Sjögren-Larsson syndrome
- Cerebral palsy
- Inborn genetic diseases
- Malignant tumor of esophagus
- Familial cancer of breast
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.83
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.68
- DepMap mean gene effect
- 0.01
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- aldehyde metabolic process
- central nervous system development
- epidermis development
- fatty acid metabolic process
- peripheral nervous system development
- phytol metabolic process
- hexadecanal metabolic process
- sesquiterpenoid metabolic process
Molecular functions
- 3-chloroallyl aldehyde dehydrogenase activity
- aldehyde dehydrogenase (NAD+) activity
- long-chain fatty aldehyde dehydrogenase (NAD+) activity
- medium-chain fatty aldehyde dehydrogenase (NAD+) activity
- protein homodimerization activity
- farnesal dehydrogenase (NAD+) activity
- long-chain-alcohol oxidase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ALDH3A2 as an antibody target. Whether an autoantibody or antibody against ALDH3A2 could matter depends on whether native ALDH3A2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ALDH3A2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ALDH3A2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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