FUCA1
entrez
2517
canonical
uniprot
P04066
canonical
ensembl
ENSG00000179163
resolver
ensp
ENSP00000363603
resolver
enst
ENST00000374479
resolver
genesymbol
FUCA1
resolver
hgnc
HGNC:4006
resolver
uniprot
B2RBG3
resolver
uniprot
Q14334
resolver
uniprot
Q14335
resolver
uniprot
Q3LID0
resolver
uniprot
Q8NAC2
resolver
uniprot_entry
FUCO_HUMAN
resolver
uniprot_sec
B2RBG3
resolver
uniprot_sec
Q14334
resolver
uniprot_sec
Q14335
resolver
uniprot_sec
Q3LID0
resolver
uniprot_sec
Q8NAC2
resolver
amino_acid_sequence
MRAPGMRSRPAGPALLLLLLFLGAAESVRRAQPPRRYTPDWPSLDSRPLPAWFDEAKFGVFIHWGVFSVPAWGSEWFWWHWQGEGRPQYQRFMRDNYPPGFSYADFGPQFTARFFHPEEWADLFQAAGAKYVVLTTKHHEGFTNWPSPVSWNWNSKDVGPHRDLVGELGTALRKRNIRYGLYHSLLEWFHPLYLLDKKNGFKTQHFVSAKTMPELYDLVNSYKPDLIWSDGEWECPDTYWNSTNFLSWLYNDSPVKDEVVVNDRWGQNCSCHHGGYYNCEDKFKPQSLPDHKWEMCTSIDKFSWGYRRDMALSDVTEESEIISELVQTVSLGGNYLLNIGPTKDGLIVPIFQERLLAVGKWLSINGEAIYASKPWRVQWEKNTTSVWYTSKGSAVYAIFLHWPENGVLNLESPITTSTTKITMLGIQGDLKWSTDPDKGLFISLPQLPPSAVPAEFAWTIKLTGVK
uniprot
proteins
disease_involvement
DISEASE: Fucosidosis (FUCA1D) [MIM:230000]: An autosomal recessive lysosomal storage disease characterized by accumulation of fucose-containing glycolipids and glycoproteins in various tissues. Clinical signs include facial dysmorphism, dysostosis multiplex, moderate hepatomegaly, severe intellectual deficit, deafness, and according to age, angiokeratomas. {ECO:0000269|PubMed:7874128, ECO:0000269|PubMed:8504303, ECO:0000269|PubMed:9762612}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.2.1.51
uniprot
proteins
function
FUNCTION: Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. {ECO:0000269|PubMed:9741689}.
uniprot
proteins
mass_dalton
53689
uniprot
proteins
protein_family
Glycosyl hydrolase 29 family
uniprot
proteins
pubmed
10094192
uniprot
proteins
pubmed
12408193
uniprot
proteins
pubmed
12880961
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
2174090
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
2803312
uniprot
proteins
pubmed
2894306
uniprot
proteins
pubmed
2983333
uniprot
proteins
pubmed
6096099
uniprot
proteins
pubmed
7815431
uniprot
proteins
pubmed
7874128
uniprot
proteins
pubmed
8399358
uniprot
proteins
pubmed
8504303
uniprot
proteins
pubmed
9741689
uniprot
proteins
pubmed
9762612
uniprot
proteins
sequence_length
466
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome {ECO:0000269|PubMed:9741689}.
uniprot
proteins