FUT8
entrez
2530
canonical
uniprot
Q9BYC5
canonical
ensembl
ENSG00000033170
resolver
ensp
ENSP00000353910
resolver
ensp
ENSP00000378087
resolver
ensp
ENSP00000452433
resolver
ensp
ENSP00000501213
resolver
ensp
ENSP00000529099
resolver
ensp
ENSP00000529101
resolver
genesymbol
FUT8
resolver
hgnc
HGNC:4019
resolver
uniprot
A8K8P8
resolver
uniprot
B4DFS7
resolver
uniprot
G3V5N0
resolver
uniprot
O00235
resolver
uniprot
Q546E0
resolver
uniprot
Q8IUA5
resolver
uniprot
Q9BYC6
resolver
uniprot
Q9P2U5
resolver
uniprot
Q9P2U6
resolver
uniprot_entry
A8K8P8_HUMAN
resolver
uniprot_entry
FUT8_HUMAN
resolver
uniprot_entry
Q546E0_HUMAN
resolver
uniprot_sec
B4DFS7
resolver
uniprot_sec
G3V5N0
resolver
uniprot_sec
O00235
resolver
uniprot_sec
Q8IUA5
resolver
uniprot_sec
Q9BYC6
resolver
uniprot_sec
Q9P2U5
resolver
uniprot_sec
Q9P2U6
resolver
amino_acid_sequence
MRPWTGSWRWIMLILFAWGTLLFYIGGHLVRDNDHPDHSSRELSKILAKLERLKQQNEDLRRMAESLRIPEGPIDQGPAIGRVRVLEEQLVKAKEQIENYKKQTRNGLGKDHEILRRRIENGAKELWFFLQSELKKLKNLEGNELQRHADEFLLDLGHHERSIMTDLYYLSQTDGAGDWREKEAKDLTELVQRRITYLQNPKDCSKAKKLVCNINKGCGYGCQLHHVVYCFMIAYGTQRTLILESQNWRYATGGWETVFRPVSETCTDRSGISTGHWSGEVKDKNVQVVELPIVDSLHPRPPYLPLAVPEDLADRLVRVHGDPAVWWVSQFVKYLIRPQPWLEKEIEEATKKLGFKHPVIGVHVRRTDKVGTEAAFHPIEEYMVHVEEHFQLLARRMQVDKKRVYLATDDPSLLKEAKTKYPNYEFISDNSISWSAGLHNRYTENSLRGVILDIHFLSQADFLVCTFSSQVCRVAYEIMQTLHPDASANFHSLDDIYYFGGQNAHNQIAIYAHQPRTADEIPMEPGDIIGVAGNHWDGYSKGVNRKLGRTGLYPSYKVREKIETVKYPTYPEAEK
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation with defective fucosylation 1 (CDGF1) [MIM:618005]: A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders 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. CDGF1 is an autosomal recessive disorder, apparent from birth, characterized by poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability. {ECO:0000269|PubMed:29304374, ECO:0000269|PubMed:30237576}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.68
uniprot
proteins
function
FUNCTION: Catalyzes the addition of fucose in alpha 1-6 linkage to the first GlcNAc residue, next to the peptide chains in N-glycans (PubMed:17172260, PubMed:29304374, PubMed:36280670, PubMed:9133635). Fucosylates the reducing GlcNAc residue in complex-type N-glycans attached on the fragment crystallizable (Fc) of IgGs. Fully converts Fc glycoforms containing one or two terminal GlcNAc moieties (G0-GlcNAc and G0) (PubMed:36280670). {ECO:0000269|PubMed:17172260, ECO:0000269|PubMed:29304374, ECO:0000269|PubMed:36280670, ECO:0000269|PubMed:9133635}.
uniprot
proteins
mass_dalton
66516
uniprot
proteins
mutagenesis
MUTAGEN 365; /note="R->A,K: Complete loss of activity."; /evidence="ECO:0000269|PubMed:10764839, ECO:0000269|PubMed:17172260"; MUTAGEN 366; /note="R->A,K: Decreases activity to 3%."; /evidence="ECO:0000269|PubMed:10764839"; MUTAGEN 368; /note="D->A: Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:17172260"; MUTAGEN 369; /note="K->A: Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:17172260"; MUTAGEN 373; /note="E->A: Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:17172260"; MUTAGEN 382; /note="Y->A: Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:17172260"; MUTAGEN 409; /note="D->A: Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:17172260"; MUTAGEN 410; /note="D->A: No effect on enzyme activity."; /evidence="ECO:0000269|PubMed:17172260"; MUTAGEN 453; /note="D->A: Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:17172260"; MUTAGEN 469; /note="S->A: Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:17172260
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:36280670}.
uniprot
proteins
post_translational_modification
PTM: Tyrosine phosphorylated by PKDCC/VLK. {ECO:0000269|PubMed:25171405}.
uniprot
proteins
protein_family
Glycosyltransferase 23 family
uniprot
proteins
pubmed
10764839
uniprot
proteins
pubmed
10814706
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
14514715
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17172260
uniprot
proteins
pubmed
25171405
uniprot
proteins
pubmed
29304374
uniprot
proteins
pubmed
30237576
uniprot
proteins
pubmed
36280670
uniprot
proteins
pubmed
9133635
uniprot
proteins
sequence_length
575
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Note=Membrane-bound form in trans cisternae of Golgi. {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 10..30; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins