Homo sapiens Gene: FUCA1
Summary
InnateDB Gene IDBG-94045.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FUCA1
Gene Name fucosidase, alpha-L- 1, tissue
Synonyms FUCA
Species Homo sapiens
Ensembl Gene ENSG00000179163
Encoded Proteins
fucosidase, alpha-L- 1, tissue
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.[provided by RefSeq, Oct 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:23845077-23868294
Strand Reverse strand
Band p36.11
Transcripts
ENST00000374479 ENSP00000363603
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
Cellular Component
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
KEGG
Other glycan degradation pathway
Lysosome pathway
INOH
PID NCI
Cross-References
SwissProt P04066
TrEMBL B5MDC5
UniProt Splice Variant
Entrez Gene 2517
UniGene Hs.370858 Hs.709094
RefSeq NM_000147
HUGO HGNC:4006
OMIM 612280
CCDS CCDS244
HPRD
IMGT
EMBL AB074175 AK092914 AK301302 AK314649 AL590728 BC017338 M10355 M29877 M80809 M80810 M80811 M80812 M80813 M80814 M80815 X01390
GenPept AAA35519 AAA52481 AAA52482 AAH17338 BAC04002 BAE45738 BAG37210 BAH13453 CAA25646 CAH74004
RNA Seq Atlas 2517