alpha-L-fucosidase 1

Summary
Gene Symbol
  • FUCA1
Aliases
  • a-L-fucosidase 1
  • tissue fucosidase
  • α-L-fucosidase 1
Organism
Homo sapiens (human)
External Links
NCBI Gene
2517
HGNC
4006
KEGG Gene ID
hsa:2517
PubChem
2517
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Disease variant
  • Glycoprotein
  • Glycosidase
  • Lipid metabolism
  • Lysosome
  • Phosphoprotein
  • Reference proteome
  • Signal
Proteins
Displaying 1 entry
UniProt Protein Name
P04066
  • Alpha-L-fucosidase I
  • Alpha-L-fucoside fucohydrolase 1
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000179163

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K01206
Name
alpha-L-fucosidase [EC:3.2.1.51]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 77 in total
DO ID Disease Name Source
DOID:0040099 livedoid vasculitis
DOID:0050328 congenital hypothyroidism
DOID:0050461 aspartylglucosaminuria
DOID:0050865 tongue squamous cell carcinoma
DOID:0060249 scoliosis
DOID:0060823 syndromic X-linked intellectual disability 94
DOID:0080199 colorectal carcinoma
DOID:0080522 thyroid gland anaplastic carcinoma
DOID:0111135 congenital generalized lipodystrophy type 1
DOID:0111136 congenital generalized lipodystrophy type 2
The Human Phenotype Ontology
Displaying entries 1 - 10 of 82 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000158 Macroglossia
HP:0000164 Abnormality of the dentition
HP:0000179 Thick lower lip vermilion
HP:0000240 Abnormality of skull size
HP:0000248 Brachycephaly
HP:0000280 Coarse facial features
HP:0000316 Hypertelorism
HP:0000365 Hearing impairment
HP:0000369 Low-set ears
Displaying all 2 entries
Disease ID Disease Name
OMIM:230000
  • fucosidosis
ORPHA:349
  • fucosidosis
PubChem Disease
GHR Health Conditions
MedGen Diseases
OMIM Phenotypes
KEGG Diseases

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024