ALDH1A3
entrez
220
canonical
uniprot
P47895
canonical
ensembl
ENSG00000184254
resolver
ensp
ENSP00000332256
resolver
ensp
ENSP00000343294
resolver
enst
ENST00000329841
resolver
enst
ENST00000346623
resolver
genesymbol
ALDH1A3
resolver
genesymbol_syn
ALDH6
resolver
hgnc
HGNC:409
resolver
uniprot
H0Y2X5
resolver
uniprot
Q6NT64
resolver
uniprot_entry
AL1A3_HUMAN
resolver
uniprot_entry
H0Y2X5_HUMAN
resolver
uniprot_sec
Q6NT64
resolver
amino_acid_sequence
MATANGAVENGQPDRKPPALPRPIRNLEVKFTKIFINNEWHESKSGKKFATCNPSTREQICEVEEGDKPDVDKAVEAAQVAFQRGSPWRRLDALSRGRLLHQLADLVERDRATLAALETMDTGKPFLHAFFIDLEGCIRTLRYFAGWADKIQGKTIPTDDNVVCFTRHEPIGVCGAITPWNFPLLMLVWKLAPALCCGNTMVLKPAEQTPLTALYLGSLIKEAGFPPGVVNIVPGFGPTVGAAISSHPQINKIAFTGSTEVGKLVKEAASRSNLKRVTLELGGKNPCIVCADADLDLAVECAHQGVFFNQGQCCTAASRVFVEEQVYSEFVRRSVEYAKKRPVGDPFDVKTEQGPQIDQKQFDKILELIESGKKEGAKLECGGSAMEDKGLFIKPTVFSEVTDNMRIAKEEIFGPVQPILKFKSIEEVIKRANSTDYGLTAAVFTKNLDKALKLASALESGTVWINCYNALYAQAPFGGFKMSGNGRELGEYALAEYTEVKTVTIKLGDKNP
uniprot
proteins
disease_involvement
DISEASE: Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. {ECO:0000269|PubMed:23312594, ECO:0000269|PubMed:23591992, ECO:0000269|PubMed:23646827, ECO:0000269|PubMed:23881059, ECO:0000269|PubMed:24024553, ECO:0000269|PubMed:24568872, ECO:0000269|PubMed:24777706}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.2.1.36
uniprot
proteins
function
FUNCTION: 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) (PubMed:27759097). High specificity for all-trans-retinal as substrate, can also accept acetaldehyde as substrate in vitro but with lower affinity (PubMed:27759097). 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). {ECO:0000250|UniProtKB:Q9JHW9, ECO:0000269|PubMed:27759097}.
uniprot
proteins
mass_dalton
56108
uniprot
proteins
pathway_participation
PATHWAY: Cofactor metabolism; retinol metabolism. {ECO:0000269|PubMed:27759097}.
uniprot
proteins
protein_family
Aldehyde dehydrogenase family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23312594
uniprot
proteins
pubmed
23591992
uniprot
proteins
pubmed
23646827
uniprot
proteins
pubmed
23881059
uniprot
proteins
pubmed
24024553
uniprot
proteins
pubmed
24568872
uniprot
proteins
pubmed
24777706
uniprot
proteins
pubmed
27759097
uniprot
proteins
pubmed
7698756
uniprot
proteins
sequence_length
512
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9JHW9}.
uniprot
proteins