GCS1
entrez
7841
canonical
uniprot
Q13724
canonical
ensembl
ENSG00000115275
resolver
ensp
ENSP00000388201
resolver
ensp
ENSP00000410992
resolver
genesymbol
GCS1
resolver
genesymbol
MOGS
resolver
genesymbol_syn
GCS1
resolver
hgnc
HGNC:24862
resolver
uniprot
A0A384MDR6
resolver
uniprot
A8K938
resolver
uniprot
F5H6D0
resolver
uniprot
Q17RN9
resolver
uniprot
Q58F09
resolver
uniprot
Q8TCT5
resolver
uniprot_entry
A0A384MDR6_HUMAN
resolver
uniprot_entry
MOGS_HUMAN
resolver
uniprot_entry
Q58F09_HUMAN
resolver
uniprot_sec
A8K938
resolver
uniprot_sec
F5H6D0
resolver
uniprot_sec
Q17RN9
resolver
uniprot_sec
Q8TCT5
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by 1-deoxynojirimycin (40% inhibition) and N,N-dimethyl-deoxynojirimycin (85% inhibition). {ECO:0000269|PubMed:7635146}.
uniprot
proteins
amino_acid_sequence
MARGERRRRAVPAEGVRTAERAARGGPGRRDGRGGGPRSTAGGVALAVVVLSLALGMSGRWVLAWYRARRAVTLHSAPPVLPADSSSPAVAPDLFWGTYRPHVYFGMKTRSPKPLLTGLMWAQQGTTPGTPKLRHTCEQGDGVGPYGWEFHDGLSFGRQHIQDGALRLTTEFVKRPGGQHGGDWSWRVTVEPQDSGTSALPLVSLFFYVVTDGKEVLLPEVGAKGQLKFISGHTSELGDFRFTLLPPTSPGDTAPKYGSYNVFWTSNPGLPLLTEMVKSRLNSWFQHRPPGAPPERYLGLPGSLKWEDRGPSGQGQGQFLIQQVTLKIPISIEFVFESGSAQAGGNQALPRLAGSLLTQALESHAEGFRERFEKTFQLKEKGLSSGEQVLGQAALSGLLGGIGYFYGQGLVLPDIGVEGSEQKVDPALFPPVPLFTAVPSRSFFPRGFLWDEGFHQLVVQRWDPSLTREALGHWLGLLNADGWIGREQILGDEARARVPPEFLVQRAVHANPPTLLLPVAHMLEVGDPDDLAFLRKALPRLHAWFSWLHQSQAGPLPLSYRWRGRDPALPTLLNPKTLPSGLDDYPRASHPSVTERHLDLRCWVALGARVLTRLAEHLGEAEVAAELGPLAASLEAAESLDELHWAPELGVFADFGNHTKAVQLKPRPPQGLVRVVGRPQPQLQYVDALGYVSLFPLLLRLLDPTSSRLGPLLDILADSRHLWSPFGLRSLAASSSFYGQRNSEHDPPYWRGAVWLNVNYLALGALHHYGHLEGPHQARAAKLHGELRANVVGNVWRQYQATGFLWEQYSDRDGRGMGCRPFHGWTSLVLLAMAEDY
uniprot
proteins
disease_involvement
DISEASE: Type IIb congenital disorder of glycosylation (CDGIIb) [MIM:606056]: Characterized by marked generalized hypotonia and hypomotility of the neonate, dysmorphic features, including a prominent occiput, short palpebral fissures, retrognathia, high arched palate, generalized edema, and hypoplastic genitalia. Symptoms of the infant included hepatomegaly, hypoventilation, feeding problems and seizures. The clinical course was progressive and the infant did not survive more than a few months. {ECO:0000269|PubMed:10788335}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.2.1.106
uniprot
proteins
function
FUNCTION: In the context of N-glycan degradation, cleaves the distal alpha 1,2-linked glucose residue from the Glc(3)Man(9)GlcNAc(2) oligosaccharide precursor in a highly specific manner. {ECO:0000269|PubMed:7635146}.
uniprot
proteins
mass_dalton
91918
uniprot
proteins
pathway_participation
PATHWAY: Glycan metabolism; N-glycan degradation. {ECO:0000269|PubMed:7635146}.
uniprot
proteins
protein_family
Glycosyl hydrolase 63 family
uniprot
proteins
pubmed
10788335
uniprot
proteins
pubmed
12145188
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
7635146
uniprot
proteins
sequence_length
837
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:7635146}; Single-pass type II membrane protein {ECO:0000250|UniProtKB:O88941}.
uniprot
proteins
transmembrane_region
TRANSMEM 39..59; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins