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Aliases for FUCA1 Gene

Aliases for FUCA1 Gene

  • Alpha-L-Fucosidase 1 2 3 4 5
  • Alpha-L-Fucoside Fucohydrolase 1 3 4
  • Fucosidase, Alpha-L- 1, Tissue 2 3
  • Alpha-L-Fucosidase I 3 4
  • Tissue Fucosidase 2 3
  • A-L-Fucosidase 1 2 3
  • Tissue Alpha-L-Fucosidase 3
  • I+/--L-Fucosidase 1 3
  • α-L-Fucosidase 1 2
  • EC 4
  • FUCA 3

External Ids for FUCA1 Gene

Previous GeneCards Identifiers for FUCA1 Gene

  • GC01U990065
  • GC01M023242
  • GC01M023641
  • GC01M023916
  • GC01M024044
  • GC01M024171
  • GC01M022423

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 (Alpha-L-Fucosidase 1) is a Protein Coding gene. Diseases associated with FUCA1 include Fucosidosis and Lysosomal Storage Disease. Among its related pathways are Metabolism of proteins and Other glycan degradation. Gene Ontology (GO) annotations related to this gene include carbohydrate 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

Additional gene information for FUCA1 Gene

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

Genomics for FUCA1 Gene

GeneHancer (GH) Regulatory Elements for FUCA1 Gene

Promoters and enhancers for FUCA1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J023867 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 665.8 0.0 -31 2.1 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A ZNF2 YY1 POLR2B E2F8 FUCA1 SRRM1 SRSF10 RPL11 LINC01355 ZNF436-AS1 PNRC2 ELOA HNRNPR GC01M023881
GH01J023907 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 19.9 -42.6 -42572 6.4 HDGF PKNOX1 FOXA2 SMAD1 IRF4 ZNF143 FOS ATF7 RUNX3 ZNF592 CNR2 FUCA1 NCMAP PNRC2 RPL11 ENSG00000232557
GH01J023809 Enhancer 1.4 Ensembl ENCODE dbSUPER 25.7 +58.0 58006 2.1 HDGF PKNOX1 ATF1 ARNT ARID4B ZNF2 ZNF48 ETS1 YY1 GTF3C2 FUCA1 ELOA SRSF10 KDM1A PITHD1 ELOA-AS1 SRRM1 RPL11 LINC01355 PIR41142
GH01J023838 Promoter/Enhancer 1.3 Ensembl ENCODE 27 +29.7 29717 1.2 HDGF HDAC1 ATF1 ARID4B SIN3A YY1 ZNF335 GLIS2 EGR1 KLF13 HMGCL LOC105376861 GC01P023838 FUCA1 GC01M023866 PIR51704
GH01J023824 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 14.4 +43.2 43233 2.3 FOXA2 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 YY1 POLR2B ZNF213 HMGCL FUCA1 LYPLA2 KDM1A LOC105376861 GC01P023838 PIR41142
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FUCA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FUCA1 gene promoter:
  • Elk-1
  • FOXO4
  • Nkx5-1
  • GATA-3
  • GATA-2
  • GATA-1
  • Olf-1
  • RORalpha1
  • POU3F1
  • FOXO1a

Genomic Locations for FUCA1 Gene

Genomic Locations for FUCA1 Gene
23,293 bases
Minus strand
23,293 bases
Minus strand

Genomic View for FUCA1 Gene

Genes around FUCA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FUCA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FUCA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FUCA1 Gene

Proteins for FUCA1 Gene

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

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

    Protein attributes for FUCA1 Gene

    466 amino acids
    Molecular mass:
    53689 Da
    Quaternary structure:
    • Homotetramer.
    • 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

Post-translational modifications for FUCA1 Gene

  • Glycosylation at isoforms=382, isoforms=268, and isoforms=241
  • Modification sites at PhosphoSitePlus

Other Protein References for FUCA1 Gene

Protein Products

  • Abcam proteins for FUCA1

No data available for DME Specific Peptides for FUCA1 Gene

Domains & Families for FUCA1 Gene

Gene Families for FUCA1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for FUCA1 Gene

Graphical View of Domain Structure for InterPro Entry



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

Function for FUCA1 Gene

Molecular function for FUCA1 Gene

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

Enzyme Numbers (IUBMB) for FUCA1 Gene

Phenotypes From GWAS Catalog 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:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
genes like me logo Genes that share ontologies with FUCA1: view
genes like me logo Genes that share phenotypes with FUCA1: view

Human Phenotype Ontology for FUCA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FUCA1

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

Localization for FUCA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FUCA1 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FUCA1 gene
Compartment Confidence
extracellular 5
lysosome 5
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for FUCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm TAS 4074382
GO:0005764 lysosome IBA,IEA --
GO:0035578 azurophil granule lumen TAS --
GO:0043202 lysosomal lumen TAS --
genes like me logo Genes that share ontologies with FUCA1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FUCA1 Gene

Pathways & Interactions for FUCA1 Gene

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

Pathways by source for FUCA1 Gene

Gene Ontology (GO) - Biological Process for FUCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006004 fucose metabolic process IDA 19666478
GO:0006027 glycosaminoglycan catabolic process NAS 11698403
GO:0008152 metabolic process IEA --
GO:0016139 glycoside catabolic process IDA 19666478
genes like me logo Genes that share ontologies with FUCA1: view

No data available for SIGNOR curated interactions for FUCA1 Gene

Drugs & Compounds for FUCA1 Gene

(13) Drugs for FUCA1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Phosphoglycolohydroxamic Acid Experimental Pharma Target 0
Dihydroxyacetone phosphate Investigational Pharma Target 0

(14) Additional Compounds for FUCA1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 6-Deoxy-L-mannose
  • L-(+)-Rhamnose
  • L-Mannomethylose
  • L-Rha
  • L-Rhamnose
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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FUCA1

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

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

Relevant External Links for FUCA1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FUCA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x4.0).

Protein differential expression in normal tissues from HIPED for FUCA1 Gene

This gene is overexpressed in Lymph node (10.0) and Salivary gland (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FUCA1 Gene

Protein tissue co-expression partners for FUCA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FUCA1 Gene:


SOURCE GeneReport for Unigene cluster for FUCA1 Gene:


Evidence on tissue expression from TISSUES for FUCA1 Gene

  • Blood(5)
  • Liver(4.5)
  • Spleen(4.5)
  • Skin(4.2)
  • Nervous system(4.1)
  • Intestine(4)
  • Kidney(3.1)
  • Lymph node(2)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FUCA1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pituitary gland
  • sinus
  • skull
  • thyroid
  • tongue
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • abdominal wall
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • pelvis
  • uterus
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with FUCA1: view

No data available for mRNA Expression by UniProt/SwissProt for FUCA1 Gene

Orthologs for FUCA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FUCA1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FUCA1 34 33
  • 93.1 (n)
(Canis familiaris)
Mammalia FUCA1 34 33
  • 87.14 (n)
(Bos Taurus)
Mammalia FUCA1 34 33
  • 86.09 (n)
(Mus musculus)
Mammalia Fuca1 16 34 33
  • 83.83 (n)
(Rattus norvegicus)
Mammalia Fuca1 33
  • 83.02 (n)
(Ornithorhynchus anatinus)
Mammalia FUCA1 34
  • 74 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 67 (a)
-- 34
  • 45 (a)
(Gallus gallus)
Aves FUCA1 34 33
  • 70.46 (n)
(Anolis carolinensis)
Reptilia FUCA1 34
  • 70 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fuca1 33
  • 68.22 (n)
Str.16634 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.7265 33
(Danio rerio)
Actinopterygii zgc:101116 33
  • 63.62 (n)
fuca1 34
  • 63 (a)
FUCA1 (1 of 2) 34
  • 63 (a)
wufc59h04 33
fruit fly
(Drosophila melanogaster)
Insecta CG6128 35
  • 46 (a)
Fuca 34
  • 42 (a)
(Caenorhabditis elegans)
Secernentea W03G11.3 34 35
  • 40 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 50 (a)
CSA.1844 34
  • 48 (a)
-- 34
  • 47 (a)
-- 34
  • 43 (a)
CSA.1698 34
  • 43 (a)
Species where no ortholog for FUCA1 was found in the sources mined by GeneCards:
  • 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

Gene Tree for FUCA1 (if available)
Gene Tree for FUCA1 (if available)
Evolutionary constrained regions (ECRs) for FUCA1: view image

Paralogs for FUCA1 Gene

Paralogs for FUCA1 Gene

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

  • FUCO_HUMAN 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

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 Variation AA Info Type
rs1021897274 uncertain-significance, Fucosidosis 23,868,257(-) C/G/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant, upstream_transcript_variant
rs114490852 conflicting-interpretations-of-pathogenicity, Fucosidosis 23,848,661(-) G/A coding_sequence_variant, missense_variant
rs118204450 pathogenic, Fucosidosis 23,845,837(-) G/A coding_sequence_variant, stop_gained
rs13551 benign, FU1/FU2 POLYMORPHISM, Fucosidosis 23,854,472(-) T/C coding_sequence_variant, missense_variant
rs139832548 uncertain-significance, Fucosidosis 23,868,330(-) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv2742159 CNV deletion 23290073
esv2745330 CNV deletion 23290073
esv2745341 CNV deletion 23290073
esv2745352 CNV deletion 23290073
esv2745364 CNV deletion 23290073
esv2745375 CNV deletion 23290073
esv3893081 CNV gain 25118596

Variation tolerance for FUCA1 Gene

Residual Variation Intolerance Score: 48.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.82; 89.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FUCA1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

Disorders for FUCA1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for FUCA1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
  • alpha-l-fucosidase deficiency
lysosomal storage disease
  • disorder of lysosomal enzyme
  • angiokeratoma of skin
fabry disease
  • angiokeratoma corporis diffusum
mucolipidosis iii alpha/beta
  • ml iii alpha/beta
- elite association - COSMIC cancer census association via MalaCards
Search FUCA1 in MalaCards View complete list of genes associated with diseases


  • 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.

Genatlas disease for FUCA1 Gene


Additional Disease Information for FUCA1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FUCA1: view

Publications for FUCA1 Gene

  1. Spectrum of mutations in fucosidosis. (PMID: 10094192) Willems PJ … O'Brien JS (European journal of human genetics : EJHG 1999) 3 4 22 58
  2. A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient. (PMID: 7874128) Seo HC … O'Brien JS (Human molecular genetics 1994) 3 4 22 58
  3. Molecular basis of the common electrophoretic polymorphism (Fu1/Fu2) in human alpha-L-fucosidase. (PMID: 7815431) Cragg H … Swallow D (Journal of medical genetics 1994) 3 4 22 58
  4. Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family. (PMID: 8399358) Yang M … DiCioccio RA (Biochimica et biophysica acta 1993) 3 4 22 58
  5. Fucosidosis: four new mutations and a new polymorphism. (PMID: 8504303) Seo HC … O'Brien JS (Human molecular genetics 1993) 3 4 22 58

Products for FUCA1 Gene

Sources for FUCA1 Gene

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