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alpha-L-fucosidase 1 (tissue alpha-L-fucosidase, alpha-L-fucosidase I, alpha-L-fucoside fucohydrolase, FUCA1)
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
alpha-L-fucoside + H2O L-fucose + an alcohol
Structure:
- homotetramer
- belongs to the glycosyl hydrolase 29 family
Compartment: lysosome
Polymorphism:
- 2 common alleles of FUCA1
a) FUCA1*1; also known as Fu1; has Arg-281
b) FUCA1*2; also known as Fu2; has Gln-281
Pathology:
- defects in FUCA1 are the cause of fucosidosis
Genetics: gene locus: 1p34
General
alpha-L-fucosidase
glycoprotein
Properties
SIZE: entity length = 466 aa
MW = 54 kD
COMPARTMENT: lysosome
MOTIF: signal sequence {1-31}
N-glycosylation site {N241}
N-glycosylation site {N268}
May be important for catalysis {296-296}
N-glycosylation site {N382}
Database Correlations
OMIM 230000
UniProt P04066
Pfam PF01120
Entrez Gene 2517
ENZYME 3.2.1.51
References
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=FUCA1
- UniProt :accession P04066