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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes Human disease related genes Metabolic proteins Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
15
Cytoband
q26.3
Chromosome location (bp)
100877714 - 100916626
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Catalyzes the NAD-dependent oxidation of aldehyde substrates, such as all-trans-retinal and all-trans-13,14-dihydroretinal, to their corresponding carboxylic acids, all-trans-retinoate and all-trans-13,14-dihydroretinoate, respectively (By similarity) 1. High specificity for all-trans-retinal as substrate, can also accept acetaldehyde as substrate in vitro but with lower affinity 2. Required for the biosynthesis of normal levels of retinoate in the embryonic ocular and nasal regions; a critical lipid in the embryonic development of the eye and the nasal region (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Oxidoreductase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Lipid metabolism
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
NAD
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Oxidoreductases Metabolic proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of eye Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001758[retinal dehydrogenase activity] GO:0002072[optic cup morphogenesis involved in camera-type eye development] GO:0002138[retinoic acid biosynthetic process] GO:0004029[aldehyde dehydrogenase (NAD+) activity] GO:0004030[aldehyde dehydrogenase [NAD(P)+] activity] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006629[lipid metabolic process] GO:0006915[apoptotic process] GO:0007626[locomotory behavior] GO:0016491[oxidoreductase activity] GO:0016620[oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor] GO:0021768[nucleus accumbens development] GO:0031076[embryonic camera-type eye development] GO:0042472[inner ear morphogenesis] GO:0042572[retinol metabolic process] GO:0042573[retinoic acid metabolic process] GO:0042574[retinal metabolic process] GO:0042803[protein homodimerization activity] GO:0043065[positive regulation of apoptotic process] GO:0043584[nose development] GO:0048048[embryonic eye morphogenesis] GO:0050885[neuromuscular process controlling balance] GO:0051289[protein homotetramerization] GO:0060013[righting reflex] GO:0060166[olfactory pit development] GO:0060324[face development] GO:0070062[extracellular exosome] GO:0070324[thyroid hormone binding] GO:0070384[Harderian gland development] GO:0070403[NAD+ binding]
H0Y2X5 [Direct mapping] Aldehyde dehydrogenase 1 family, member A3, isoform CRA_b; Aldehyde dehydrogenase family 1 member A3
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of eye Protein evidence (Ezkurdia et al 2014)
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GO:0016491[oxidoreductase activity] GO:0016620[oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor]
H0YLT1 [Direct mapping] Aldehyde dehydrogenase family 1 member A3
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of eye Protein evidence (Ezkurdia et al 2014)
H0YKF9 [Direct mapping] Aldehyde dehydrogenase family 1 member A3
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of eye Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
