SORD
entrez
6652
canonical
uniprot
Q00796
canonical
ensembl
ENSG00000140263
resolver
ensp
ENSP00000267814
resolver
genesymbol
SORD
resolver
hgnc
HGNC:11184
resolver
uniprot
B2R655
resolver
uniprot
B7Z3A6
resolver
uniprot
J3JZZ5
resolver
uniprot
Q16682
resolver
uniprot
Q9UMD6
resolver
uniprot_entry
DHSO_HUMAN
resolver
uniprot_sec
B2R655
resolver
uniprot_sec
B7Z3A6
resolver
uniprot_sec
J3JZZ5
resolver
uniprot_sec
Q16682
resolver
uniprot_sec
Q9UMD6
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by CP-166,572, an inhibitor that is competitive with fructose (PubMed:12962626). Also competitively inhibited by phenanthroline and 4-methylpyrazole in vitro (PubMed:3365415). {ECO:0000269|PubMed:12962626, ECO:0000269|PubMed:3365415}.
uniprot
proteins
amino_acid_sequence
MAAAAKPNNLSLVVHGPGDLRLENYPIPEPGPNEVLLRMHSVGICGSDVHYWEYGRIGNFIVKKPMVLGHEASGTVEKVGSSVKHLKPGDRVAIEPGAPRENDEFCKMGRYNLSPSIFFCATPPDDGNLCRFYKHNAAFCYKLPDNVTFEEGALIEPLSVGIHACRRGGVTLGHKVLVCGAGPIGMVTLLVAKAMGAAQVVVTDLSATRLSKAKEIGADLVLQISKESPQEIARKVEGQLGCKPEVTIECTGAEASIQAGIYATRSGGNLVLVGLGSEMTTVPLLHAAIREVDIKGVFRYCNTWPVAISMLASKSVNVKPLVTHRFPLEKALEAFETFKKGLGLKIMLKCDPSDQNP
uniprot
proteins
disease_involvement
DISEASE: Neuronopathy, distal hereditary motor, autosomal recessive 8 (HMNR8) [MIM:618912]: An autosomal recessive disorder characterized by motor axonal neuropathy, slowly progressive distal muscle weakness mainly affecting the lower limbs, difficulty walking, and increased serum sorbitol. Additional variable features are distal sensory impairment, upper limb tremor, scoliosis, and mild hearing loss. {ECO:0000269|PubMed:32367058, ECO:0000269|PubMed:33314640, ECO:0000269|PubMed:33397963}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.1.1.-
uniprot
proteins
ec_number
1.1.1.14
uniprot
proteins
ec_number
1.1.1.4
uniprot
proteins
ec_number
1.1.1.56
uniprot
proteins
ec_number
1.1.1.9
uniprot
proteins
function
FUNCTION: Polyol dehydrogenase that catalyzes the reversible NAD(+)-dependent oxidation of various sugar alcohols. Is mostly active with D-sorbitol (D-glucitol), L-threitol, xylitol and ribitol as substrates, leading to the C2-oxidized products D-fructose, L-erythrulose, D-xylulose, and D-ribulose, respectively (PubMed:3365415). Is a key enzyme in the polyol pathway that interconverts glucose and fructose via sorbitol, which constitutes an important alternate route for glucose metabolism. The polyol pathway is believed to be involved in the etiology of diabetic complications, such as diabetic neuropathy and retinopathy, induced by hyperglycemia (PubMed:12962626, PubMed:25105142, PubMed:29966615). May play a role in sperm motility by using sorbitol as an alternative energy source for sperm motility (PubMed:16278369). May have a more general function in the metabolism of secondary alcohols since it also catalyzes the stereospecific oxidation of (2R,3R)-2,3-butanediol. To a lesser extent, can also oxidize L-arabinitol, galactitol and D-mannitol and glycerol in vitro. Oxidizes neither ethanol nor other primary alcohols. Cannot use NADP(+) as the electron acceptor (PubMed:3365415). {ECO:0000269|PubMed:16278369, ECO:0000269|PubMed:3365415, ECO:0000303|PubMed:25105142, ECO:0000303|PubMed:29966615, ECO:0000305|PubMed:12962626}.
uniprot
proteins
mass_dalton
38325
uniprot
proteins
protein_family
Zinc-containing alcohol dehydrogenase family
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
12962626
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16278369
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19423711
uniprot
proteins
pubmed
20372835
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25105142
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
2691249
uniprot
proteins
pubmed
29966615
uniprot
proteins
pubmed
32367058
uniprot
proteins
pubmed
32457452
uniprot
proteins
pubmed
33314640
uniprot
proteins
pubmed
33397963
uniprot
proteins
pubmed
3365415
uniprot
proteins
pubmed
7782086
uniprot
proteins
pubmed
8088829
uniprot
proteins
pubmed
9183016
uniprot
proteins
sequence_length
357
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000250|UniProtKB:Q64442}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q64442}. Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:Q64442}. Note=Associated with mitochondria of the midpiece and near the plasma membrane in the principal piece of the flagellum. Also found in the epididymosome, secreted by the epididymal epithelium and that transfers proteins from the epididymal fluid to the sperm surface. {ECO:0000250|UniProtKB:Q64442}.
uniprot
proteins