DHRSX
entrez
207063
canonical
uniprot
Q8N5I4
canonical
ensembl
ENSG00000169084
resolver
ensembl
ENSG00000292338
resolver
ensp
ENSP00000334113
resolver
ensp
ENSP00000518601
resolver
enst
ENST00000334651
resolver
enst
ENST00000711198
resolver
genesymbol
DHRSX
resolver
genesymbol_syn
CXorf11
resolver
genesymbol_syn
DHRS5X
resolver
genesymbol_syn
SDR46C1
resolver
genesymbol_syn
SDR7C6
resolver
hgnc
HGNC:18399
resolver
uniprot
Q6UWC7
resolver
uniprot
Q8WUS4
resolver
uniprot
Q96GR8
resolver
uniprot
Q9NTF6
resolver
uniprot_entry
DHRSX_HUMAN
resolver
uniprot_sec
Q6UWC7
resolver
uniprot_sec
Q8WUS4
resolver
uniprot_sec
Q96GR8
resolver
uniprot_sec
Q9NTF6
resolver
amino_acid_sequence
MSPLSAARAALRVYAVGAAVILAQLLRRCRGGFLEPVFPPRPDRVAIVTGGTDGIGYSTAKHLARLGMHVIIAGNNDSKAKQVVSKIKEETLNDKVEFLYCDLASMTSIRQFVQKFKMKKIPLHVLINNAGVMMVPQRKTRDGFEEHFGLNYLGHFLLTNLLLDTLKESGSPGHSARVVTVSSATHYVAELNMDDLQSSACYSPHAAYAQSKLALVLFTYHLQRLLAAEGSHVTANVVDPGVVNTDVYKHVFWATRLAKKLLGWLLFKTPDEGAWTSIYAAVTPELEGVGGHYLYNEKETKSLHVTYNQKLQQQLWSKSCEMTGVLDVTL
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 1DD (CDG1DD) [MIM:301133]: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1DD transmission pattern is consistent with pseudoautosomal recessive inheritance. {ECO:0000269|PubMed:38821050}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.1.1.441
uniprot
proteins
function
FUNCTION: Oxidoreductase that plays a key role in early steps of protein N-linked glycosylation by mediating two non-consecutive steps in dolichol biosynthesis (PubMed:38821050). Acts both as a NAD(+)-dependent dehydrogenase and as a NADPH-dependent reductase during the conversion of polyprenol into dolichol (PubMed:38821050). First catalyzes the NAD(+)-dependent dehydrogenation of polyprenol into polyprenal; polyprenal is then reduced into dolichal by SRD5A3 (PubMed:38821050). It then catalyzes the NADPH-dependent reduction of dolichal into dolichol (PubMed:38821050). May also acts as a positive regulator of starvation-induced autophagy (PubMed:25076851). {ECO:0000269|PubMed:25076851, ECO:0000269|PubMed:38821050}.
uniprot
proteins
mass_dalton
36443
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:38821050}.
uniprot
proteins
protein_family
Short-chain dehydrogenases/reductases (SDR) family
uniprot
proteins
pubmed
11731500
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
25076851
uniprot
proteins
pubmed
38821050
uniprot
proteins
pubmed
38870945
uniprot
proteins
sequence_length
330
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lipid droplet {ECO:0000269|PubMed:38821050}. Secreted {ECO:0000269|PubMed:25076851}. Note=Secreted in a non-classical form; a signal peptide sequence at position 1-31 is predicted. {ECO:0000305|PubMed:25076851}.
uniprot
proteins