ALDH1A3
Retinaldehyde dehydrogenase 3
Also known as: AL1A3_HUMAN, ALDH6, RALDH3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P47895
- Gene
- ALDH1A3
- Ensembl
- ENSG00000184254
- Chromosome
- 15
- Canonical length
- 512 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
- Quaternary structure
- Homotetramer
OverviewNCBI Gene
This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Canonical amino-acid sequenceUniProt
512 residues, UniProt reviewed canonical sequence.
>P47895|ALDH1A3
1 MATANGAVEN GQPDRKPPAL PRPIRNLEVK FTKIFINNEW HESKSGKKFA TCNPSTREQI
61 CEVEEGDKPD VDKAVEAAQV AFQRGSPWRR LDALSRGRLL HQLADLVERD RATLAALETM
121 DTGKPFLHAF FIDLEGCIRT LRYFAGWADK IQGKTIPTDD NVVCFTRHEP IGVCGAITPW
181 NFPLLMLVWK LAPALCCGNT MVLKPAEQTP LTALYLGSLI KEAGFPPGVV NIVPGFGPTV
241 GAAISSHPQI NKIAFTGSTE VGKLVKEAAS RSNLKRVTLE LGGKNPCIVC ADADLDLAVE
301 CAHQGVFFNQ GQCCTAASRV FVEEQVYSEF VRRSVEYAKK RPVGDPFDVK TEQGPQIDQK
361 QFDKILELIE SGKKEGAKLE CGGSAMEDKG LFIKPTVFSE VTDNMRIAKE EIFGPVQPIL
421 KFKSIEEVIK RANSTDYGLT AAVFTKNLDK ALKLASALES GTVWINCYNA LYAQAPFGGF
481 KMSGNGRELG EYALAEYTEV KTVTIKLGDK NPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ALDH1A3 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
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.22
- Highest tissue expression
- 126 nTPM
Expression across tissuesHPA
Tissue
- prostate: 126 nTPM
- urinary bladder: 117 nTPM
- salivary gland: 93 nTPM
- adipose tissue: 79 nTPM
- seminal vesicle: 47 nTPM
- appendix: 39 nTPM
Single-cell type
- salivary duct cells: 671 nCPM
- lacrimal acinar cells: 469 nCPM
- urothelial cells: 468 nCPM
- salivary acinar cells: 409 nCPM
- ocular epithelial cells: 382 nCPM
- epicardial cells: 334 nCPM
Immune cell
- eosinophil: 0.4 nTPM
- basophil: 0.3 nTPM
- plasmacytoid DC: 0.2 nTPM
- classical monocyte: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- choroid plexus: 35 nTPM
- cerebral cortex: 11 nTPM
- medulla oblongata: 11 nTPM
- cerebellum: 10 nTPM
- white matter: 8.6 nTPM
- thalamus: 8 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ALDH1A3.
Disease | AllUniProt
Conditions ALDH1A3 is implicated in, by any mechanism.
- Microphthalmia, isolated, 8 (MCOP8) MIM:615113
Disease | GeneticClinVar
22 pathogenic / likely-pathogenic of 173 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Isolated microphthalmia 8
- Isolated anophthalmia-microphthalmia syndrome
- Autism
- Microphthalmia
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)
- 0.51
- gnomAD pLI
- 0.14
- gnomAD missense Z
- 2.24
- DepMap mean gene effect
- 0.11
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- aldehyde metabolic process
- apoptotic process
- embryonic camera-type eye development
- embryonic eye morphogenesis
- face development
- Harderian gland development
- inner ear morphogenesis
- locomotory behavior
- neuromuscular process controlling balance
- olfactory pit development
- optic cup morphogenesis involved in camera-type eye development
- positive regulation of apoptotic process
- protein homotetramerization
- retinal metabolic process
- retinoic acid biosynthetic process
- retinoic acid metabolic process
- retinol metabolic process
- righting reflex
- nucleus accumbens development
Molecular functions
- aldehyde dehydrogenase (NAD+) activity
- aldehyde dehydrogenase [NAD(P)+] activity
- NAD+ binding
- protein homodimerization activity
- retinal dehydrogenase (NAD+) activity
- thyroid hormone binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ALDH1A3 as an antibody target. Whether an autoantibody or antibody against ALDH1A3 could matter depends on whether native ALDH1A3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ALDH1A3 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 ALDH1A3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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