ADH5
entrez
128
canonical
uniprot
P11766
canonical
ensembl
ENSG00000197894
resolver
ensp
ENSP00000296412
resolver
enst
ENST00000296412
resolver
genesymbol
ADH5
resolver
genesymbol_syn
ADHX
resolver
genesymbol_syn
FDH
resolver
genesymbol_syn
HEL-S-60p
resolver
hgnc
HGNC:253
resolver
uniprot
A0A024RDI2
resolver
uniprot
Q6FHR2
resolver
uniprot
Q6IRT1
resolver
uniprot_entry
ADHX_HUMAN
resolver
uniprot_entry
Q6IRT1_HUMAN
resolver
uniprot_sec
A0A024RDI2
resolver
uniprot_sec
Q6FHR2
resolver
amino_acid_sequence
MANEVIKCKAAVAWEAGKPLSIEEIEVAPPKAHEVRIKIIATAVCHTDAYTLSGADPEGCFPVILGHEGAGIVESVGEGVTKLKAGDTVIPLYIPQCGECKFCLNPKTNLCQKIRVTQGKGLMPDGTSRFTCKGKTILHYMGTSTFSEYTVVADISVAKIDPLAPLDKVCLLGCGISTGYGAAVNTAKLEPGSVCAVFGLGGVGLAVIMGCKVAGASRIIGVDINKDKFARAKEFGATECINPQDFSKPIQEVLIEMTDGGVDYSFECIGNVKVMRAALEACHKGWGVSVVVGVAASGEEIATRPFQLVTGRTWKGTAFGGWKSVESVPKLVSEYMSKKIKVDEFVTHNLSFDEINKAFELMHSGKSIRTVVKI
uniprot
proteins
disease_involvement
DISEASE: AMED syndrome, digenic (AMEDS) [MIM:619151]: A form of bone marrow failure syndrome, a heterogeneous group of life-threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. AMEDS is an autosomal recessive, digenic form characterized by childhood onset of bone marrow failure resulting in aplastic anemia, in association with global developmental delay, intellectual disability, and poor overall growth with short stature. {ECO:0000269|PubMed:33355142}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. AMEDS patients carry ADH5 biallelic variants and homozygous or heterozygous ALDH2 variant p.Glu504Lys, affecting protein activity. Cellular and animal studies demonstrate that the simultaneous loss of ALDH2 and ADH5 activities leads to an increase of cellular formaldehyde sensitivity and multisystem abnormalities including hematopoietic failure. {ECO:0000269|PubMed:33355142}.
uniprot
proteins
ec_number
1.1.1.-
uniprot
proteins
ec_number
1.1.1.1
uniprot
proteins
ec_number
1.1.1.284
uniprot
proteins
function
FUNCTION: Catalyzes the oxidation of long-chain primary alcohols and the oxidation of S-(hydroxymethyl) glutathione (PubMed:8460164). Also oxidizes long chain omega-hydroxy fatty acids, such as 20-HETE, producing both the intermediate aldehyde, 20-oxoarachidonate and the end product, a dicarboxylic acid, (5Z,8Z,11Z,14Z)-eicosatetraenedioate (PubMed:16081420). Class-III ADH is remarkably ineffective in oxidizing ethanol (PubMed:8460164). Required for clearance of cellular formaldehyde, a cytotoxic and carcinogenic metabolite that induces DNA damage (PubMed:33355142). Also acts as a S-nitroso-glutathione reductase by catalyzing the NADH-dependent reduction of S-nitrosoglutathione, thereby regulating protein S-nitrosylation (By similarity). {ECO:0000250|UniProtKB:P28474, ECO:0000269|PubMed:16081420, ECO:0000269|PubMed:33355142, ECO:0000269|PubMed:8460164}.
uniprot
proteins
mass_dalton
39724
uniprot
proteins
mutagenesis
MUTAGEN 115; /note="R->A,D: Loss of FDH activity and loss of activation by fatty acids."; /evidence="ECO:0000269|PubMed:8460164, ECO:0000269|PubMed:8494891
uniprot
proteins
protein_family
Class-III subfamily
uniprot
proteins
protein_family
Zinc-containing alcohol dehydrogenase family
uniprot
proteins
pubmed
1446828
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16081420
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2679557
uniprot
proteins
pubmed
2818582
uniprot
proteins
pubmed
33355142
uniprot
proteins
pubmed
3365377
uniprot
proteins
pubmed
8460164
uniprot
proteins
pubmed
8494891
uniprot
proteins
pubmed
9018047
uniprot
proteins
sequence_length
374
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
uniprot
proteins