ALG5
entrez
29880
canonical
uniprot
Q9Y673
canonical
ensembl
ENSG00000120697
resolver
ensp
ENSP00000239891
resolver
ensp
ENSP00000390533
resolver
ensp
ENSP00000505408
resolver
genesymbol
ALG5
resolver
hgnc
HGNC:20266
resolver
uniprot
B4DR37
resolver
uniprot
Q5TBA6
resolver
uniprot_entry
ALG5_HUMAN
resolver
uniprot_sec
B4DR37
resolver
uniprot_sec
Q5TBA6
resolver
amino_acid_sequence
MAPLLLQLAVLGAALAAAALVLISIVAFTTATKMPALHRHEEEKFFLNAKGQKETLPSIWDSPTKQLSVVVPSYNEEKRLPVMMDEALSYLEKRQKRDPAFTYEVIVVDDGSKDQTSKVAFKYCQKYGSDKVRVITLVKNRGKGGAIRMGIFSSRGEKILMADADGATKFPDVEKLEKGLNDLQPWPNQMAIACGSRAHLEKESIAQRSYFRTLLMYGFHFLVWFLCVKGIRDTQCGFKLFTREAASRTFSSLHVERWAFDVELLYIAQFFKIPIAEIAVNWTEIEGSKLVPFWSWLQMGKDLLFIRLRYLTGAWRLEQTRKMN
uniprot
proteins
disease_involvement
DISEASE: Polycystic kidney disease 7 (PKD7) [MIM:620056]: A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occur in other organs, particularly the liver. PKD7 inheritance is autosomal dominant. {ECO:0000269|PubMed:35896117}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.117
uniprot
proteins
function
FUNCTION: Dolichyl-phosphate beta-glucosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-linked oligosaccharides begins on the cytosolic side of the endoplasmic reticulum membrane and finishes in its lumen. The sequential addition of sugars to dolichol pyrophosphate produces dolichol-linked oligosaccharides containing fourteen sugars, including two GlcNAcs, nine mannoses and three glucoses. Once assembled, the oligosaccharide is transferred from the lipid to nascent proteins by oligosaccharyltransferases. Dolichyl-phosphate beta-glucosyltransferase produces dolichyl beta-D-glucosyl phosphate/Dol-P-Glc, the glucose donor substrate used sequentially by ALG6, ALG8 and ALG10 to add glucose residues on top of the Man(9)GlcNAc(2)-PP-Dol structure. These are the three last steps in the biosynthetic pathway of dolichol-linked oligosaccharides to produce Glc(3)Man(9)GlcNAc(2)-PP-Dol. The enzyme is most probably active on the cytoplasmic side of the endoplasmic reticulum while its product Dol-P-Glc is the substrate for ALG6, ALG8 and ALG11 in the lumen of the endoplasmic reticulum. {ECO:0000269|PubMed:10359825, ECO:0000269|PubMed:35896117}.
uniprot
proteins
mass_dalton
36946
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:10359825, ECO:0000269|PubMed:35896117}.
uniprot
proteins
protein_family
Glycosyltransferase 2 family
uniprot
proteins
pubmed
10359825
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
35896117
uniprot
proteins
sequence_length
324
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:10359825}; Single-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 8..28; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins