• Gene id: 2517

Gene Summary

• Gene Symbol: FUCA1   Gene   UCSC   Ensembl
• Aliases: FUCA
• Gene name: alpha-L-fucosidase 1
• Alternate names: tissue alpha-L-fucosidase, I+/--L-fucosidase 1, a-L-fucosidase 1, alpha-L-fucosidase I, alpha-L-fucoside fucohydrolase 1, fucosidase, alpha-L- 1, tissue, tissue fucosidase,
• Gene location: 1p36.11 (23868331: 23845076)     Exons: 10     NC_000001.11
• Gene summary(Entrez): 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 disea
• OMIM: 612280

Protein Summary

• Protein general information: P04066  
  • Name: Tissue alpha L fucosidase (EC 3.2.1.51) (Alpha L fucosidase I) (Alpha L fucoside fucohydrolase 1) (Alpha L fucosidase 1)
  • Length: 466  
  • Mass: 53689
• Sequence:

  MRAPGMRSRPAGPALLLLLLFLGAAESVRRAQPPRRYTPDWPSLDSRPLPAWFDEAKFGVFIHWGVFSVPAWGSE
  WFWWHWQGEGRPQYQRFMRDNYPPGFSYADFGPQFTARFFHPEEWADLFQAAGAKYVVLTTKHHEGFTNWPSPVS
  WNWNSKDVGPHRDLVGELGTALRKRNIRYGLYHSLLEWFHPLYLLDKKNGFKTQHFVSAKTMPELYDLVNSYKPD
  LIWSDGEWECPDTYWNSTNFLSWLYNDSPVKDEVVVNDRWGQNCSCHHGGYYNCEDKFKPQSLPDHKWEMCTSID
  KFSWGYRRDMALSDVTEESEIISELVQTVSLGGNYLLNIGPTKDGLIVPIFQERLLAVGKWLSINGEAIYASKPW
  RVQWEKNTTSVWYTSKGSAVYAIFLHWPENGVLNLESPITTSTTKITMLGIQGDLKWSTDPDKGLFISLPQLPPS
  AVPAEFAWTIKLTGVK

• Structural information:
  • Interpro: IPR016286  IPR028755  IPR031919  IPR000933  IPR018526   IPR013780  IPR017853  
  • Prosite: PS00385
  • STRING: ENSP00000363603
• Other Databases: GeneCards:  FUCA1  Malacards:  FUCA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005764	lysosome	IBA	cellular component
GO:0016139	glycoside catabolic process	IBA	biological process
GO:0004560	alpha-L-fucosidase activity	IBA	molecular function
GO:0006004	fucose metabolic process	IBA	biological process
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0004560	alpha-L-fucosidase activity	IEA	molecular function
GO:0006004	fucose metabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0004560	alpha-L-fucosidase activity	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0004560	alpha-L-fucosidase activity	IEA	molecular function
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0035578	azurophil granule lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019377	glycolipid catabolic process	ISS	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0004560	alpha-L-fucosidase activity	IDA	molecular function
GO:0016139	glycoside catabolic process	IDA	biological process
GO:0006004	fucose metabolic process	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0006027	glycosaminoglycan catabolic process	NAS	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0004560	alpha-L-fucosidase activity	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome
hsa00511	Other glycan degradation

Diseases

Associated diseases	References
Glycoproteinoses	KEGG:H00422
Fucosidosis	KEGG:H00141
Glycoproteinoses	KEGG:H00422
Fucosidosis	KEGG:H00141
Fucosidosis	PMID:2642067
diabetes mellitus	PMID:3609421
type 2 diabetes mellitus	PMID:16176171
type 1 diabetes mellitus	PMID:7304074
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)