ALG6
entrez
29929
canonical
uniprot
Q9Y672
canonical
ensembl
ENSG00000088035
resolver
ensp
ENSP00000263440
resolver
ensp
ENSP00000618388
resolver
enst
ENST00000263440
resolver
enst
ENST00000948329
resolver
genesymbol
ALG6
resolver
hgnc
HGNC:23157
resolver
uniprot
B3KMU2
resolver
uniprot
Q5SXR9
resolver
uniprot
Q9H3I0
resolver
uniprot_entry
ALG6_HUMAN
resolver
uniprot_sec
B3KMU2
resolver
uniprot_sec
Q5SXR9
resolver
uniprot_sec
Q9H3I0
resolver
amino_acid_sequence
MEKWYLMTVVVLIGLTVRWTVSLNSYSGAGKPPMFGDYEAQRHWQEITFNLPVKQWYFNSSDNNLQYWGLDYPPLTAYHSLLCAYVAKFINPDWIALHTSRGYESQAHKLFMRTTVLIADLLIYIPAVVLYCCCLKEISTKKKIANALCILLYPGLILIDYGHFQYNSVSLGFALWGVLGISCDCDLLGSLAFCLAINYKQMELYHALPFFCFLLGKCFKKGLKGKGFVLLVKLACIVVASFVLCWLPFFTEREQTLQVLRRLFPVDRGLFEDKVANIWCSFNVFLKIKDILPRHIQLIMSFCSTFLSLLPACIKLILQPSSKGFKFTLVSCALSFFLFSFQVHEKSILLVSLPVCLVLSEIPFMSTWFLLVSTFSMLPLLLKDELLMPSVVTTMAFFIACVTSFSIFEKTSEEELQLKSFSISVRKYLPCFTFLSRIIQYLFLISVITMVLLTLMTVTLDPPQKLPDLFSVLVCFVSCLNFLFFLVYFNIIIMWDSKSGRNQKKIS
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]: 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:10359825, ECO:0000269|PubMed:10914684, ECO:0000269|PubMed:10924277, ECO:0000269|PubMed:11106564, ECO:0000269|PubMed:11134235, ECO:0000269|PubMed:12357336, ECO:0000269|PubMed:14517965}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.267
uniprot
proteins
function
FUNCTION: Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-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. In the lumen of the endoplasmic reticulum, adds the first glucose residue from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide intermediate Man(9)GlcNAc(2)-PP-Dol to produce Glc(1)Man(9)GlcNAc(2)-PP-Dol. Glc(1)Man(9)GlcNAc(2)-PP-Dol is a substrate for ALG8, the following enzyme in the biosynthetic pathway. {ECO:0000269|PubMed:10359825, ECO:0000269|PubMed:25792706}.
uniprot
proteins
mass_dalton
58121
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:10359825, ECO:0000269|PubMed:25792706}.
uniprot
proteins
protein_family
ALG6/ALG8 glucosyltransferase family
uniprot
proteins
pubmed
10359825
uniprot
proteins
pubmed
10914684
uniprot
proteins
pubmed
10924277
uniprot
proteins
pubmed
11106564
uniprot
proteins
pubmed
11134235
uniprot
proteins
pubmed
11558905
uniprot
proteins
pubmed
11875054
uniprot
proteins
pubmed
12357336
uniprot
proteins
pubmed
14517965
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
25792706
uniprot
proteins
sequence_length
507
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000305|PubMed:10359825}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 4..24; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 115..135; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 144..164; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 173..193; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 227..247; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 298..318; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 324..344; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 362..382; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 388..408; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 438..458; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 473..493; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins