InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FUCA1

Summary

InnateDB Protein

IDBP-94047.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FUCA1

Protein Name

fucosidase, alpha-L- 1, tissue

Synonyms

FUCA;

Species

Homo sapiens

Ensembl Protein

ENSP00000363603

InnateDB Gene

IDBG-94045 (FUCA1)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Lysosome.

Disease Associations

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:0000269PubMed:7874128, ECO:0000269PubMed:8504303, ECO:0000269PubMed:9762612}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004560	alpha-L-fucosidase activity
GO:0015928	fucosidase activity
GO:0030246	carbohydrate binding
GO:0042806	fucose binding

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006004	fucose metabolic process
GO:0006027	glycosaminoglycan catabolic process
GO:0016139	glycoside catabolic process