ALG3
entrez
10195
canonical
uniprot
Q92685
canonical
ensembl
ENSG00000214160
resolver
ensp
ENSP00000380793
resolver
ensp
ENSP00000402744
resolver
genesymbol
ALG3
resolver
genesymbol_syn
NOT
resolver
genesymbol_syn
NOT56L
resolver
hgnc
HGNC:23056
resolver
uniprot
A8JZZ6
resolver
uniprot
Q9BT71
resolver
uniprot_entry
ALG3_HUMAN
resolver
uniprot_sec
A8JZZ6
resolver
uniprot_sec
Q9BT71
resolver
amino_acid_sequence
MAAGLRKRGRSGSAAQAEGLCKQWLQRAWQERRLLLREPRYTLLVAACLCLAEVGITFWVIHRVAYTEIDWKAYMAEVEGVINGTYDYTQLQGDTGPLVYPAGFVYIFMGLYYATSRGTDIRMAQNIFAVLYLATLLLVFLIYHQTCKVPPFVFFFMCCASYRVHSIFVLRLFNDPVAMVLLFLSINLLLAQRWGWGCCFFSLAVSVKMNVLLFAPGLLFLLLTQFGFRGALPKLGICAGLQVVLGLPFLLENPSGYLSRSFDLGRQFLFHWTVNWRFLPEALFLHRAFHLALLTAHLTLLLLFALCRWHRTGESILSLLRDPSKRKVPPQPLTPNQIVSTLFTSNFIGICFSRSLHYQFYVWYFHTLPYLLWAMPARWLTHLLRLLVLGLIELSWNTYPSTSCSSAALHICHAVILLQLWLGPQPFPKSTQHSKKAH
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 1D (CDG1D) [MIM:601110]: 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:10581255, ECO:0000269|PubMed:15840742}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.258
uniprot
proteins
function
FUNCTION: Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase 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. In the lumen of the endoplasmic reticulum, adds the first dolichyl beta-D-mannosyl phosphate derived mannose in an alpha-1,3 linkage to Man(5)GlcNAc(2)-PP-dolichol to produce Man(6)GlcNAc(2)-PP-dolichol (PubMed:10581255). Man(6)GlcNAc(2)-PP-dolichol is a substrate for ALG9, the following enzyme in the biosynthetic pathway (PubMed:10581255). {ECO:0000269|PubMed:10581255}.
uniprot
proteins
mass_dalton
50126
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:10581255}.
uniprot
proteins
protein_family
Glycosyltransferase ALG3 family
uniprot
proteins
pubmed
10581255
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15840742
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
sequence_length
438
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000305|PubMed:10581255}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 41..61; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 95..115; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 123..143; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 149..169; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 172..192; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 203..223; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 231..251; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 289..309; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 332..352; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 356..376; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 407..427; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins