ALDH1A2
entrez
8854
canonical
uniprot
O94788
canonical
ensembl
ENSG00000128918
resolver
ensp
ENSP00000249750
resolver
ensp
ENSP00000309623
resolver
ensp
ENSP00000438296
resolver
ensp
ENSP00000453408
resolver
genesymbol
ALDH1A2
resolver
genesymbol_syn
RALDH2
resolver
hgnc
HGNC:15472
resolver
uniprot
B3KY52
resolver
uniprot
B4DZR2
resolver
uniprot
F5H2Y9
resolver
uniprot
H0YM00
resolver
uniprot
Q2PJS6
resolver
uniprot
Q8NHQ4
resolver
uniprot
Q9UBR8
resolver
uniprot
Q9UFY0
resolver
uniprot_entry
AL1A2_HUMAN
resolver
uniprot_sec
B3KY52
resolver
uniprot_sec
B4DZR2
resolver
uniprot_sec
F5H2Y9
resolver
uniprot_sec
H0YM00
resolver
uniprot_sec
Q2PJS6
resolver
uniprot_sec
Q8NHQ4
resolver
uniprot_sec
Q9UBR8
resolver
uniprot_sec
Q9UFY0
resolver
amino_acid_sequence
MTSSKIEMPGEVKADPAALMASLHLLPSPTPNLEIKYTKIFINNEWQNSESGRVFPVYNPATGEQVCEVQEADKADIDKAVQAARLAFSLGSVWRRMDASERGRLLDKLADLVERDRAVLATMESLNGGKPFLQAFYVDLQGVIKTFRYYAGWADKIHGMTIPVDGDYFTFTRHEPIGVCGQIIPWNFPLLMFAWKIAPALCCGNTVVIKPAEQTPLSALYMGALIKEAGFPPGVINILPGYGPTAGAAIASHIGIDKIAFTGSTEVGKLIQEAAGRSNLKRVTLELGGKSPNIIFADADLDYAVEQAHQGVFFNQGQCCTAGSRIFVEESIYEEFVRRSVERAKRRVVGSPFDPTTEQGPQIDKKQYNKILELIQSGVAEGAKLECGGKGLGRKGFFIEPTVFSNVTDDMRIAKEEIFGPVQEILRFKTMDEVIERANNSDFGLVAAVFTNDINKALTVSSAMQAGTVWINCYNALNAQSPFGGFKMSGNGREMGEFGLREYSEVKTVTVKIPQKNS
uniprot
proteins
disease_involvement
DISEASE: Diaphragmatic hernia 4, with cardiovascular defects (DIH4) [MIM:620025]: An autosomal recessive form of congenital diaphragmatic hernia, a posterolateral defect of the diaphragm, generally located on the left side, that permits the herniation of abdominal viscera into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. {ECO:0000269|PubMed:33565183, ECO:0000269|PubMed:36263470}. 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 (PubMed:29240402, PubMed:33565183). Retinoate signaling is critical for the transcriptional control of many genes, for instance it is crucial for initiation of meiosis in both male and female (Probable) (PubMed:33565183). Recognizes retinal as substrate, both in its free form and when bound to cellular retinol-binding protein (By similarity). Can metabolize octanal and decanal, but has only very low activity with benzaldehyde, acetaldehyde and propanal (By similarity). Displays complete lack of activity with citral (By similarity). {ECO:0000250|UniProtKB:Q63639, ECO:0000269|PubMed:29240402, ECO:0000269|PubMed:33565183, ECO:0000305|PubMed:22075477}.
uniprot
proteins
mass_dalton
56724
uniprot
proteins
pathway_participation
PATHWAY: Cofactor metabolism; retinol metabolism. {ECO:0000269|PubMed:29240402}.
uniprot
proteins
protein_family
Aldehyde dehydrogenase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22075477
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
29240402
uniprot
proteins
pubmed
33565183
uniprot
proteins
pubmed
36263470
uniprot
proteins
pubmed
9819382
uniprot
proteins
sequence_length
518
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm.
uniprot
proteins