SRD5A3
entrez
79644
canonical
uniprot
Q9H8P0
canonical
ensembl
ENSG00000128039
resolver
ensp
ENSP00000264228
resolver
ensp
ENSP00000424714
resolver
ensp
ENSP00000506601
resolver
enst
ENST00000264228
resolver
enst
ENST00000679836
resolver
genesymbol
SRD5A3
resolver
genesymbol_syn
SRD5A2L
resolver
hgnc
HGNC:25812
resolver
uniprot
A0A7P0TBH6
resolver
uniprot
Q4W5Q6
resolver
uniprot_entry
A0A7P0TBH6_HUMAN
resolver
uniprot_entry
SR5A3_HUMAN
resolver
uniprot_sec
Q4W5Q6
resolver
amino_acid_sequence
MAPWAEAEHSALNPLRAVWLTLTAAFLLTLLLQLLPPGLLPGCAIFQDLIRYGKTKCGEPSRPAACRAFDVPKRYFSHFYIISVLWNGFLLWCLTQSLFLGAPFPSWLHGLLRILGAAQFQGGELALSAFLVLVFLWLHSLRRLFECLYVSVFSNVMIHVVQYCFGLVYYVLVGLTVLSQVPMDGRNAYITGKNLLMQARWFHILGMMMFIWSSAHQYKCHVILGNLRKNKAGVVIHCNHRIPFGDWFEYVSSPNYLAELMIYVSMAVTFGFHNLTWWLVVTNVFFNQALSAFLSHQFYKSKFVSYPKHRKAFLPFLF
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 1Q (CDG1Q) [MIM:612379]: 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. {ECO:0000269|PubMed:20637498, ECO:0000269|PubMed:20852264, ECO:0000269|PubMed:22240719, ECO:0000269|PubMed:24433453, ECO:0000269|PubMed:26219881, ECO:0000269|PubMed:27480077, ECO:0000269|PubMed:28253385, ECO:0000269|PubMed:29998879, ECO:0000269|PubMed:30019980, ECO:0000269|PubMed:31638560, ECO:0000269|PubMed:35339718, ECO:0000269|PubMed:36439385, ECO:0000269|PubMed:37069668}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Kahrizi syndrome (KHRZ) [MIM:612713]: An autosomal recessive neurodevelopmental disorder characterized by intellectual disability, cataracts, coloboma, kyphosis, and coarse facial features. {ECO:0000269|PubMed:20700148}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.3.1.22
uniprot
proteins
ec_number
1.3.1.94
uniprot
proteins
function
FUNCTION: Plays a key role in early steps of protein N-linked glycosylation by being involved in the conversion of polyprenol into dolichol (PubMed:20637498, PubMed:38821050). Acts as a polyprenal reductase that mediates the reduction of polyprenal into dolichal in a NADP-dependent mechanism (PubMed:38821050). Dolichols are required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-glycosylation (PubMed:20637498, PubMed:38821050). Also able to convert testosterone (T) into 5-alpha-dihydrotestosterone (DHT) (PubMed:17986282, PubMed:26855069). {ECO:0000269|PubMed:17986282, ECO:0000269|PubMed:20637498, ECO:0000269|PubMed:26855069, ECO:0000269|PubMed:38821050}.
uniprot
proteins
mass_dalton
36521
uniprot
proteins
mutagenesis
MUTAGEN 296; /note="H->A: Loss of function."; /evidence="ECO:0000269|PubMed:17986282, ECO:0000269|PubMed:20637498
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:20637498, ECO:0000269|PubMed:38821050}.
uniprot
proteins
protein_family
Polyprenal reductase subfamily
uniprot
proteins
protein_family
Steroid 5-alpha reductase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17986282
uniprot
proteins
pubmed
20637498
uniprot
proteins
pubmed
20700148
uniprot
proteins
pubmed
20852264
uniprot
proteins
pubmed
22240719
uniprot
proteins
pubmed
24433453
uniprot
proteins
pubmed
26219881
uniprot
proteins
pubmed
26855069
uniprot
proteins
pubmed
27480077
uniprot
proteins
pubmed
28253385
uniprot
proteins
pubmed
29998879
uniprot
proteins
pubmed
30019980
uniprot
proteins
pubmed
31638560
uniprot
proteins
pubmed
35339718
uniprot
proteins
pubmed
36439385
uniprot
proteins
pubmed
37069668
uniprot
proteins
pubmed
38821050
uniprot
proteins
sequence_length
318
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000305|PubMed:20637498}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 12..34; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 81..101; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 118..138; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 158..178; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 195..215; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 261..281; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins