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Aliases for FUCA1 Gene

Aliases for FUCA1 Gene

  • Fucosidase, Alpha-L- 1, Tissue 2 3
  • Alpha-L-Fucoside Fucohydrolase 1 3 4
  • Alpha-L-Fucosidase 1 3 4
  • Alpha-L-Fucosidase I 3 4
  • EC 3.2.1.51 4 64
  • Tissue Alpha-L-Fucosidase 3
  • EC 3.2.1 64
  • FUCA 3

External Ids for FUCA1 Gene

Summaries for FUCA1 Gene

Entrez Gene Summary for FUCA1 Gene

  • 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]

GeneCards Summary for FUCA1 Gene

FUCA1 (Fucosidase, Alpha-L- 1, Tissue) is a Protein Coding gene. Diseases associated with FUCA1 include laryngotracheitis and fucosidosis. Among its related pathways are Lysosome and Other glycan degradation. GO annotations related to this gene include fucose binding and alpha-L-fucosidase activity. An important paralog of this gene is FUCA2.

UniProtKB/Swiss-Prot for FUCA1 Gene

  • 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

Gene Wiki entry for FUCA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FUCA1 Gene

Genomics for FUCA1 Gene

Genomic Location for FUCA1 Gene

Start:
23,845,077 bp from pter
End:
23,868,369 bp from pter
Size:
23,293 bases
Orientation:
Minus strand

Genomic View for FUCA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FUCA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FUCA1 Gene

Regulatory Elements for FUCA1 Gene

Proteins for FUCA1 Gene

  • Protein details for FUCA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04066-FUCO_HUMAN
    Recommended name:
    Tissue alpha-L-fucosidase
    Protein Accession:
    P04066
    Secondary Accessions:
    • B2RBG3
    • Q14334
    • Q14335
    • Q3LID0
    • Q8NAC2

    Protein attributes for FUCA1 Gene

    Size:
    466 amino acids
    Molecular mass:
    53689 Da
    Quaternary structure:
    • Homotetramer
    SequenceCaution:
    • Sequence=AAA35519.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAA52481.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH17338.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAG37210.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAA25646.1; Type=Miscellaneous discrepancy; Note=Translation of X01390 sequence produces a larger peptide than that shown in CAA25646.1.; Evidence={ECO:0000305};

neXtProt entry for FUCA1 Gene

Proteomics data for FUCA1 Gene at MOPED

Post-translational modifications for FUCA1 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn241, Asn268, and Asn382

Other Protein References for FUCA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains for FUCA1 Gene

UniProtKB/Swiss-Prot:

FUCO_HUMAN
Family:
  • Belongs to the glycosyl hydrolase 29 family.:
    • P04066
genes like me logo Genes that share domains with FUCA1: view

No data available for Gene Families for FUCA1 Gene

Function for FUCA1 Gene

Molecular function for FUCA1 Gene

GENATLAS Biochemistry: fucosidase,alpha-L-1,tissue,lysosomal,cleaving fucose from the non reducing and of a variety of oligosaccharides (glycoprotein isoform catabolism)
UniProtKB/Swiss-Prot CatalyticActivity: An alpha-L-fucoside + H(2)O = L-fucose + an alcohol.
UniProtKB/Swiss-Prot 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

Enzyme Numbers (IUBMB) for FUCA1 Gene

Gene Ontology (GO) - Molecular Function for FUCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004560 alpha-L-fucosidase activity TAS 11698403
GO:0015928 fucosidase activity --
GO:0030246 carbohydrate binding --
GO:0042806 fucose binding IBA --
genes like me logo Genes that share ontologies with FUCA1: view
genes like me logo Genes that share phenotypes with FUCA1: view

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for FUCA1 Gene

Localization for FUCA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FUCA1 Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FUCA1 Gene COMPARTMENTS Subcellular localization image for FUCA1 gene
Compartment Confidence
lysosome 5
vacuole 5
extracellular 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for FUCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IC 11698403
GO:0005764 lysosome IBA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with FUCA1: view

Pathways for FUCA1 Gene

SuperPathways for FUCA1 Gene

genes like me logo Genes that share pathways with FUCA1: view

Pathways by source for FUCA1 Gene

2 KEGG pathways for FUCA1 Gene

Gene Ontology (GO) - Biological Process for FUCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process --
GO:0006004 fucose metabolic process IDA 19666478
GO:0006027 glycosaminoglycan catabolic process NAS 11698403
GO:0016139 glycoside catabolic process IDA 19666478
genes like me logo Genes that share ontologies with FUCA1: view

Compounds for FUCA1 Gene

(2) HMDB Compounds for FUCA1 Gene

Compound Synonyms Cas Number PubMed IDs
L-Fucose
  • (-)-Fucose
2438-80-4
Water
  • Dihydrogen oxide
7732-18-5

(24) Novoseek inferred chemical compound relationships for FUCA1 Gene

Compound -log(P) Hits PubMed IDs
deoxyfuconojirimycin 89 2
alpha-l-fucoside 87.8 1
alpha-l-fucose 83.2 3
l-fucose 74.6 5
1-deoxynojirimycin 70.7 3
genes like me logo Genes that share compounds with FUCA1: view

Transcripts for FUCA1 Gene

mRNA/cDNA for FUCA1 Gene

Unigene Clusters for FUCA1 Gene

Fucosidase, alpha-L- 1, tissue:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FUCA1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8
SP1: -
SP2:

Relevant External Links for FUCA1 Gene

GeneLoc Exon Structure for
FUCA1
ECgene alternative splicing isoforms for
FUCA1

Expression for FUCA1 Gene

mRNA expression in normal human tissues for FUCA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FUCA1 Gene

This gene is overexpressed in Colon - Transverse (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FUCA1 Gene

SOURCE GeneReport for Unigene cluster for FUCA1 Gene Hs.370858

genes like me logo Genes that share expressions with FUCA1: view

Orthologs for FUCA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FUCA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FUCA1 36
  • 93.1 (n)
  • 89.93 (a)
FUCA1 37
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FUCA1 36
  • 86.09 (n)
  • 86.7 (a)
FUCA1 37
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FUCA1 36
  • 87.14 (n)
  • 86.07 (a)
FUCA1 37
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fuca1 36
  • 83.83 (n)
  • 84.83 (a)
Fuca1 16
Fuca1 37
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 67 (a)
OneToMany
-- 37
  • 45 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia FUCA1 37
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fuca1 36
  • 83.02 (n)
  • 82.64 (a)
chicken
(Gallus gallus)
Aves FUCA1 36
  • 70.46 (n)
  • 71.23 (a)
FUCA1 37
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FUCA1 37
  • 70 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7265 36
tropical clawed frog
(Silurana tropicalis)
Amphibia fuca1 36
  • 68.22 (n)
  • 73.02 (a)
Str.16634 36
zebrafish
(Danio rerio)
Actinopterygii fuca1 37
  • 63 (a)
OneToMany
FUCA1 (1 of 2) 37
  • 63 (a)
OneToMany
wufc59h04 36
zgc:101116 36
  • 63.62 (n)
  • 66.74 (a)
fruit fly
(Drosophila melanogaster)
Insecta Fuca 37
  • 42 (a)
OneToMany
CG6128 38
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea W03G11.3 37
  • 40 (a)
OneToMany
W03G11.3 38
  • 45 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 50 (a)
ManyToMany
-- 37
  • 47 (a)
ManyToMany
-- 37
  • 43 (a)
ManyToMany
CSA.1698 37
  • 43 (a)
ManyToMany
CSA.1844 37
  • 48 (a)
ManyToMany
Species with no ortholog for FUCA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FUCA1 Gene

ENSEMBL:
Gene Tree for FUCA1 (if available)
TreeFam:
Gene Tree for FUCA1 (if available)

Paralogs for FUCA1 Gene

Paralogs for FUCA1 Gene

Selected SIMAP similar genes for FUCA1 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for FUCA1 Gene

genes like me logo Genes that share paralogs with FUCA1: view

Variants for FUCA1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for FUCA1 Gene

P04066-FUCO_HUMAN
There are two common alleles of FUCA1; FUCA1*1; also known as Fu1; has Arg-281 and FUCA1*2; also known as Fu2; has Gln-281

Sequence variations from dbSNP and Humsavar for FUCA1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs665 - 23,854,551(-) AGGTG(A/G)TAGTA missense, reference
rs13551 Benign, - 23,854,472(-) GCCAC(A/G)GAGCT reference, missense
rs1126512 - 23,854,523(-) GAACT(C/G)TTCCT missense, reference
rs1126689 -- 23,845,459(-) CAATT(C/G)TAATA utr-variant-3-prime
rs1126847 -- 23,845,098(-) ACATC(A/C)CAATC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for FUCA1 Gene

Variant ID Type Subtype PubMed ID
esv2745330 CNV Deletion 23290073
esv2742159 CNV Deletion 23290073
esv2745341 CNV Deletion 23290073
esv2745352 CNV Deletion 23290073
esv2745364 CNV Deletion 23290073
esv2745375 CNV Deletion 23290073

Relevant External Links for FUCA1 Gene

HapMap Linkage Disequilibrium report
FUCA1
Human Gene Mutation Database (HGMD)
FUCA1

Disorders for FUCA1 Gene

(1) OMIM Diseases for FUCA1 Gene (612280)

UniProtKB/Swiss-Prot

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

(3) University of Copenhagen DISEASES for FUCA1 Gene

(12) Novoseek inferred disease relationships for FUCA1 Gene

Disease -log(P) Hits PubMed IDs
fucosidosis 96.7 26
lysosomal storage diseases 74.6 8
mucolipidosis iii 68.9 3
fabry disease 67.9 2
i-cell disease 58.8 4

Genatlas disease for FUCA1 Gene

Fucosidosis

Relevant External Links for FUCA1

Genetic Association Database (GAD)
FUCA1
Human Genome Epidemiology (HuGE) Navigator
FUCA1
genes like me logo Genes that share disorders with FUCA1: view

Publications for FUCA1 Gene

  1. Sequencing and expression of a full-length cDNA for human alpha-L- fucosidase. (PMID: 2174090) Fukushima H. … Okada S. (J. Inherit. Metab. Dis. 1990) 3 4 23
  2. A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient. (PMID: 7874128) Seo H.-C. … O'Brien J.S. (Hum. Mol. Genet. 1994) 3 4 23
  3. Molecular basis of the common electrophoretic polymorphism (Fu1/Fu2) in human alpha-L-fucosidase. (PMID: 7815431) Cragg H. … Swallow D. (J. Med. Genet. 1994) 3 4 23
  4. Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family. (PMID: 8399358) Yang M. … Dicioccio R.A. (Biochim. Biophys. Acta 1993) 3 4 23
  5. Fucosidosis: four new mutations and a new polymorphism. (PMID: 8504303) Seo H.-C. … O'Brien J.S. (Hum. Mol. Genet. 1993) 3 4 23

Products for FUCA1 Gene

Sources for FUCA1 Gene

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