ALG2
entrez
85365
canonical
uniprot
Q9H553
canonical
ensembl
ENSG00000119523
resolver
ensp
ENSP00000326609
resolver
ensp
ENSP00000417764
resolver
ensp
ENSP00000432675
resolver
enst
ENST00000238477
resolver
genesymbol
ALG2
resolver
hgnc
HGNC:23159
resolver
uniprot
A0A0A0MTE0
resolver
uniprot
A2A2Y0
resolver
uniprot
Q8NBX2
resolver
uniprot
Q8NC39
resolver
uniprot_entry
A0A0A0MTE0_HUMAN
resolver
uniprot_entry
ALG2_HUMAN
resolver
uniprot_sec
A2A2Y0
resolver
uniprot_sec
Q8NBX2
resolver
uniprot_sec
Q8NC39
resolver
amino_acid_sequence
MAEEQGRERDSVPKPSVLFLHPDLGVGGAERLVLDAALALQARGCSVKIWTAHYDPGHCFAESRELPVRCAGDWLPRGLGWGGRGAAVCAYVRMVFLALYVLFLADEEFDVVVCDQVSACIPVFRLARRRKKILFYCHFPDLLLTKRDSFLKRLYRAPIDWIEEYTTGMADCILVNSQFTAAVFKETFKSLSHIDPDVLYPSLNVTSFDSVVPEKLDDLVPKGKKFLLLSINRYERKKNLTLALEALVQLRGRLTSQDWERVHLIVAGGYDERVLENVEHYQELKKMVQQSDLGQYVTFLRSFSDKQKISLLHSCTCVLYTPSNEHFGIVPLEAMYMQCPVIAVNSGGPLESIDHSVTGFLCEPDPVHFSEAIEKFIREPSLKATMGLAGRARVKEKFSPEAFTEQLYRYVTKLLV
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 1I (CDG1I) [MIM:607906]: 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:12684507}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Myasthenic syndrome, congenital, 14 (CMS14) [MIM:616228]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS14 is an autosomal recessive form characterized by onset of limb-girdle muscle weakness in early childhood. The disorder is slowly progressive, and some patients may become wheelchair-bound. {ECO:0000269|PubMed:23404334}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.132
uniprot
proteins
ec_number
2.4.1.257
uniprot
proteins
function
FUNCTION: 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. Catalyzes, on the cytoplasmic face of the endoplasmic reticulum, the addition of the second and third mannose residues to the dolichol-linked oligosaccharide chain, to produce Man3GlcNAc(2)-PP-dolichol core oligosaccharide. Man3GlcNAc(2)-PP-dolichol is a substrate for ALG11, the following enzyme in the biosynthetic pathway (PubMed:12684507, PubMed:35136180). While both alpha 1,3 and alpha 1,6 linkages are possible, the sequential addition of alpha 1,3 followed by alpha 1,6 is probably the preferred route (PubMed:35136180). {ECO:0000269|PubMed:12684507, ECO:0000269|PubMed:35136180}.
uniprot
proteins
mass_dalton
47092
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:12684507}.
uniprot
proteins
protein_family
Glycosyltransferase 4 subfamily
uniprot
proteins
protein_family
Glycosyltransferase group 1 family
uniprot
proteins
pubmed
12684507
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23404334
uniprot
proteins
pubmed
35136180
uniprot
proteins
sequence_length
416
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:35136180}; Single-pass membrane protein {ECO:0000269|PubMed:35136180}. Note=Active on cytoplasmic side of endoplasmic reticulum membrane. {ECO:0000269|PubMed:35136180}.
uniprot
proteins