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Aliases for FUCA1 Gene

Aliases for FUCA1 Gene

  • Fucosidase, Alpha-L- 1, Tissue 2 3 5
  • 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 61
  • Tissue Alpha-L-Fucosidase 3
  • EC 3.2.1 61
  • 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 (Fucosidase, Alpha-L- 1, Tissue) is a Protein Coding gene. Diseases associated with FUCA1 include Fucosidosis and Angiokeratoma. Among its related pathways are Innate Immune System and N-glycan antennae elongation in the medial/trans-Golgi. 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

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

Genomics for FUCA1 Gene

Regulatory Elements for FUCA1 Gene

Enhancers for FUCA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G023809 1.5 Ensembl ENCODE dbSUPER 25.7 +58.0 58007 2.1 HDGF PKNOX1 ATF1 CREB3L1 ARNT ARID4B ZNF2 ZNF48 YY1 GTF3C2 FUCA1 ELOA PITHD1 ELOA-AS1 RPL11 LINC01355 PIR41142 GC01P023838
GH01G023907 1.8 FANTOM5 Ensembl ENCODE dbSUPER 19.9 -42.6 -42573 6.4 HDGF PKNOX1 FOXA2 WRNIP1 ZNF143 FOS KDM4B JUNB TBX21 ZNF579 FUCA1 CNR2 NCMAP PNRC2 RPL11 ENSG00000232557
GH01G023838 0.9 ENCODE 27 +29.7 29717 1.2 HDGF HDAC1 FOXA2 ATF1 ARID4B SIN3A YY1 GLIS2 EGR1 KLF13 FUCA1 LOC105376861 GC01M023866 PIR51704
GH01G023895 1.3 Ensembl ENCODE dbSUPER 18.5 -28.2 -28193 3.1 BCOR ELF3 NFIB MAX CEBPG YY1 ZNF316 EED ETV6 CREM FUCA1 PITHD1 ELOA-AS1 SRSF10 BTBD6P1 GC01M023881
GH01G023867 1.3 ENCODE dbSUPER 15.8 0.0 -31 2.1 HDGF PKNOX1 FOXA2 CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A ZNF2 FUCA1 ZNF436-AS1 GC01M023881
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FUCA1 on UCSC Golden Path with GeneCards custom track

Promoters for FUCA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000003099 69 1001 HDGF PKNOX1 CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A ZNF2 ZNF143

Genomic Location for FUCA1 Gene

Chromosome:
1
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

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:
    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

Selected DME Specific Peptides for FUCA1 Gene

P04066:
  • CPDTYWNST
  • RKRNIRYGLYHSL
  • HWGVFSVP
  • YTPDWPSLDSRPLP
  • YKPDLIWSDGEWECPD
  • GKWLSINGEAIYASKPWRVQ
  • NWNSKDV
  • WTIKLTGV
  • WFDEAKFG
  • KHHEGFT
  • DVGPHRDLVGELG
  • PQFTARFFHP

Post-translational modifications for FUCA1 Gene

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

Other Protein References for FUCA1 Gene

Antibody Products

  • R&D Systems Antibodies for FUCA1 (Tissue alpha-L-Fucosidase/FUCA1)
  • Cloud-Clone Corp. Antibodies for FUCA1

Protein Products

Domains & Families for FUCA1 Gene

Suggested Antigen Peptide Sequences for FUCA1 Gene

Graphical View of Domain Structure for InterPro Entry

P04066

UniProtKB/Swiss-Prot:

FUCO_HUMAN :
  • Belongs to the glycosyl hydrolase 29 family.
Family:
  • Belongs to the glycosyl hydrolase 29 family.
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: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

Clone Products

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

Lysosome.

Subcellular locations from

COMPARTMENTS
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 IC,TAS 11698403
GO:0005764 lysosome IEA --
GO:0035578 azurophil granule lumen TAS --
GO:0043202 lysosomal lumen TAS --
genes like me logo Genes that share ontologies with FUCA1: view

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

(7) Drugs for FUCA1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
l-fucose
  • (-)-Fucose
  • (-)-L-Fucose
  • 6-Deoxy-beta-galactose
  • 6-Deoxy-D-galactopyranose
  • 6-Deoxy-delta-galactopyranose
2438-80-4
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

Clone Products

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 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, PaxDb, 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:

FUCA1

SOURCE GeneReport for Unigene cluster for FUCA1 Gene:

Hs.370858

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)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
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
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
Pelvis:
  • pelvis
  • uterus
Limb:
  • 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
General:
  • 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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia FUCA1 34 35
  • 93.1 (n)
dog
(Canis familiaris)
Mammalia FUCA1 34 35
  • 87.14 (n)
cow
(Bos Taurus)
Mammalia FUCA1 34 35
  • 86.09 (n)
mouse
(Mus musculus)
Mammalia Fuca1 34 16 35
  • 83.83 (n)
rat
(Rattus norvegicus)
Mammalia Fuca1 34
  • 83.02 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FUCA1 35
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 67 (a)
OneToMany
-- 35
  • 45 (a)
OneToMany
chicken
(Gallus gallus)
Aves FUCA1 34 35
  • 70.46 (n)
lizard
(Anolis carolinensis)
Reptilia FUCA1 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fuca1 34
  • 68.22 (n)
Str.16634 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.7265 34
zebrafish
(Danio rerio)
Actinopterygii zgc:101116 34
  • 63.62 (n)
fuca1 35
  • 63 (a)
OneToMany
FUCA1 (1 of 2) 35
  • 63 (a)
OneToMany
wufc59h04 34
fruit fly
(Drosophila melanogaster)
Insecta CG6128 36
  • 46 (a)
Fuca 35
  • 42 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea W03G11.3 36 35
  • 45 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 50 (a)
ManyToMany
CSA.1844 35
  • 48 (a)
ManyToMany
-- 35
  • 47 (a)
ManyToMany
-- 35
  • 43 (a)
ManyToMany
CSA.1698 35
  • 43 (a)
ManyToMany
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

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

Paralogs for FUCA1 Gene

Paralogs for FUCA1 Gene

(1) 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

FUCO_HUMAN-P04066
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
rs80358199 Pathogenic, Fucosidosis (FUCA1D) [MIM:230000] 23,846,105(-) AAACC(G/T)TGAAT reference, missense
VAR_002442 Fucosidosis (FUCA1D) [MIM:230000]
VAR_002443 Fucosidosis (FUCA1D) [MIM:230000]
rs118204450 Pathogenic 23,845,837(-) GAATT(C/T)AAGGA reference, stop-gained
rs587779398 Pathogenic 23,865,551(-) GAACT(C/T)CAAAG reference, missense, utr-variant-5-prime

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)

Relevant External Links for FUCA1 Gene

Human Gene Mutation Database (HGMD)
FUCA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FUCA1

Disorders for FUCA1 Gene

MalaCards: The human disease database

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

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

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.

Genatlas disease for FUCA1 Gene

fucosidosis

Relevant External Links for FUCA1

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

Publications for FUCA1 Gene

  1. Spectrum of mutations in fucosidosis. (PMID: 10094192) Willems P.J. … O'Brien J.S. (Eur. J. Hum. Genet. 1999) 3 4 22 64
  2. 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 22 64
  3. 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 22 64
  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 22 64
  5. Fucosidosis: four new mutations and a new polymorphism. (PMID: 8504303) Seo H.-C. … O'Brien J.S. (Hum. Mol. Genet. 1993) 3 4 22 64

Products for FUCA1 Gene

Sources for FUCA1 Gene

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