FUCA1 (alpha-L-fucosidase 1)

2007-02-01  

Identity

HGNC
FUCA1
LOCATION
1p36.11
LOCUSID
2517
ALIAS
FUCA
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2517
MIM: 612280
HGNC: 4006
Ensembl: ENSG00000179163

Variants:

dbSNP: 2517
ClinVar: 2517
TCGA: ENSG00000179163
COSMIC: FUCA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179163ENST00000374479P04066

Expression (GTEx)

0
10
20
30
40
50
60
70
80
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Other glycan degradationKEGGko00511
Other glycan degradationKEGGhsa00511
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
N-glycan antennae elongation in the medial/trans-GolgiREACTOMER-HSA-975576
Reactions specific to the complex N-glycan synthesis pathwayREACTOMER-HSA-975578
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
368763402023Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family.1
368763402023Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family.1
359074022022Cryo-EM structures of human fucosidase FucA1 reveal insight into substrate recognition and catalysis.3
362067362022The long-awaited structure of human fucosidase FucA1 opens novel avenues for the treatment of fucosidosis.0
359074022022Cryo-EM structures of human fucosidase FucA1 reveal insight into substrate recognition and catalysis.3
362067362022The long-awaited structure of human fucosidase FucA1 opens novel avenues for the treatment of fucosidosis.0
338269532021Clinical relevance of serum α-l-fucosidase activity in the SARS-CoV-2 infection.1
341262842021Comparative studies on the substrate specificity and defucosylation activity of three α-l-fucosidases using synthetic fucosylated glycopeptides and glycoproteins as substrates.7
338269532021Clinical relevance of serum α-l-fucosidase activity in the SARS-CoV-2 infection.1
341262842021Comparative studies on the substrate specificity and defucosylation activity of three α-l-fucosidases using synthetic fucosylated glycopeptides and glycoproteins as substrates.7
321256602020Fucosidosis with Pathogenic Variant in FUCA1 Gene.5
321256602020Fucosidosis with Pathogenic Variant in FUCA1 Gene.5
307296182019Alpha-L-fucosidase-1 is a diagnostic marker that distinguishes mucoepidermoid carcinoma from squamous cell carcinoma.4
309054622019Serum α-l-fucosidase activities are significantly increased in patients with preeclampsia.5
314190812019Plasma α-L-fucosidase-1 in patients with Sjögren's syndrome and other rheumatic disorders.2

Citation

Dessen P

FUCA1 (alpha-L-fucosidase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45671/fuca1-(alpha-l-fucosidase-1)