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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FUCA1 Gene

protein-coding   GIFtS: 61
GCID: GC01M024171

fucosidase, alpha-L- 1, tissue
 Explore 38 diseases affiliated with
FUCA1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for FUCA1    

Aliases
for FUCA1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Fucosidase, Alpha-L- 1, Tissue1 2     EC 3.2.1.513 8
Alpha-L-Fucosidase 12 3     FUCA2
Alpha-L-Fucosidase I2 3     Tissue Alpha-L-Fucosidase2
Alpha-L-Fucoside Fucohydrolase 12 3     EC 3.2.18

External Ids:    HGNC: 40061   Entrez Gene: 25172   Ensembl: ENSG000001791637   OMIM: 6122805   UniProtKB: P040663   

Export aliases for FUCA1 gene to outside databases

Previous GC identifers: GC01U990065 GC01M023242 GC01M023641 GC01M023916 GC01M024044 GC01M022423


Summaries
for FUCA1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for FUCA1:
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)

UniProtKB/Swiss-Prot: FUCO_HUMAN, P04066
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

Gene Wiki entry for FUCA1 (Fucosidase)


Genomic Views
for FUCA1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004610.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FUCA1 gene promoter:
         Elk-1   GATA-3   POU3F1   Olf-1   Nkx5-1   GATA-1   GATA-2   RORalpha1   FOXO4   FOXO1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FUCA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for FUCA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FUCA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p34   Ensembl cytogenetic band:  1p36.11   HGNC cytogenetic band: 1p34

FUCA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FUCA1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M024171:  view genomic region     (about GC identifiers)

Start:
 24,171,567 bp from pter      End:
 24,194,859 bp from pter
Size:
 23,293 bases      Orientation:
 minus strand

Proteins
for FUCA1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: FUCO_HUMAN, P04066 (See protein sequence)
Recommended Name: Tissue alpha-L-fucosidase precursor  
Size: 466 amino acids; 53689 Da
Subunit: Homotetramer
Subcellular location: Lysosome
Sequence caution: Sequence=AAA35519.1; Type=Erroneous initiation; Sequence=AAA52481.1; Type=Erroneous initiation;
Sequence=AAH17338.1; Type=Erroneous initiation; Sequence=CAA25646.1; Type=Miscellaneous discrepancy; Note=Translation
of X01390 sequence produces a larger peptide than that shown in CAA25646.1;
Secondary accessions: Q14334 Q14335 Q3LID0 Q8NAC2

Explore the universe of human proteins at neXtProt for FUCA1: NX_P04066

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P04066

    • 4/12 DME Specific Peptides for FUCA1 (P04066) (see all 12)
     NWNSKDV  KHHEGFT  HWGVFSVP  WFDEAKFG 

    FUCA1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000138.2  
    ENSEMBL proteins: 
     ENSP00000363603  

    Human Recombinant Protein Products: 
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    R&D Systems Recombinant & Natural Proteins for FUCA1 (Tissue alpha-L-Fucosidase/FUCA1)
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    OriGene Purified Protein: FUCA1
    OriGene Protein Over-expression Lysate: FUCA1
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    Novus Biologicals FUCA1 Proteins
    Novus Biologicals FUCA1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625soluble fraction ----
    GO:0005737cytoplasm IC11698403
    GO:0005764lysosome IEA--


    FUCA1 for ontologies           About GeneDecksing



    FUCA1 Antibody Products: 
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    Assay Products for FUCA1: 
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    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for FUCA1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    FUCA1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR016286 Glyco_hydro_29_sub
     IPR017853 Glycoside_hydrolase_SF
     IPR013781 Glyco_hydro_catalytic_dom
     IPR018526 Glyco_hydro_29_CS
     IPR013780 Glyco_hydro_13_b

    Graphical View of Domain Structure for InterPro Entry P04066

    ProtoNet protein and cluster: P04066

    1 Blocks protein family: IPB000933 Glycoside hydrolase

    UniProtKB/Swiss-Prot: FUCO_HUMAN, P04066
    Similarity: Belongs to the glycosyl hydrolase 29 family


    Function
    for FUCA1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: FUCO_HUMAN, P04066
    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
    Catalytic activity: An alpha-L-fucoside + H(2)O = L-fucose + an alcohol

         Genatlas biochemistry entry for FUCA1:
    fucosidase,alpha-L-1,tissue,lysosomal,cleaving fucose from the non reducing and of a variety of oligosaccharides
    (glycoprotein isoform catabolism)

    Enzyme Numbers (IUBMB): EC 3.2.1.511 2 EC 3.2.12

    miRNA
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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate FUCA1:
    hsa-miR-549 hsa-miR-330-5p hsa-miR-130a* hsa-miR-23c hsa-miR-23b hsa-miR-326 hsa-miR-4330 hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmid: FUCA1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FUCA1 (see all 4)
    OriGene shRNA RFP: FUCA1
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    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FUCA1 (see all 3)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FUCA1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FUCA1 

    Cell Line
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    Search LifeMap BioReagents cell lines for FUCA1

    In Situ Assay
    Products:       
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004560alpha-L-fucosidase activity TAS11698403
    GO:0015928fucosidase activity ----
    GO:0030246carbohydrate binding IEA--
    GO:0043169cation binding IEA--


    FUCA1 for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for FUCA1:
     Decreased circadian period len  Decreased viability of wild-ty  Upregulation of Wnt/beta-caten 


    Pathways & Interactions
    for FUCA1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Other glycan degradation
    		Other glycan degradation1.00
    2Lysosome
    		Lysosome1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    2         Kegg Pathways  (Kegg details for FUCA1):
        Other glycan degradation
    Lysosome


    FUCA1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FUCA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/10 Interacting proteins for FUCA1 (P040663 ENSP000003636034) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    USP21Q9UK803, ENSP000002898654I2D: score=2 STRING: ENSP00000289865
    VAV2P527353, ENSP000003609164I2D: score=1 STRING: ENSP00000360916
    MARK2Q7KZI73, ENSP000003891844I2D: score=2 STRING: ENSP00000389184
    SLC2A4P146723I2D: score=1 
    VCLP182063I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006004fucose metabolic process IEA--
    GO:0006027glycosaminoglycan catabolic process NAS11698403


    FUCA1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for FUCA1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    FUCA1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FUCA1

    2 HMDB Compounds for FUCA1    About this table
    CompoundSynonyms CAS #PubMed Ids
    L-Fucose(-)-Fucose (see all 19)2438-80-4--
    WaterDihydrogen oxide (see all 2)7732-18-5--
    10/24 Novoseek chemical compound relationships for FUCA1 gene (see all 24)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    deoxyfuconojirimycin 89 5 15771446 (1), 2137330 (1)
    alpha-l-fucoside 87.8 2 1528855 (1)
    alpha-l-fucose 83.2 4 2115770 (1), 9651160 (1), 18360707 (1)
    l-fucose 74.6 6 8595253 (1), 9133643 (1), 12441672 (1), 1769694 (1) (see all 5)
    1-deoxynojirimycin 70.7 4 15771446 (1), 9651160 (1), 2140711 (1)
    deoxymannojirimycin 60.4 4 2137330 (2), 16633556 (1)
    sialic acid 56.9 9 9203806 (3), 2127769 (1), 12883705 (1), 1554367 (1) (see all 6)
    mannose 41.1 3 8286862 (1), 1822239 (1), 2140711 (1)
    piperidine 40.1 1 2137330 (1)
    mannose 6-phosphate 37.3 5 8286862 (3), 1822239 (1)

    Search CenterWatch for drugs/clinical trials and news about FUCA1 / FUCO 

    Transcripts
    for FUCA1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for FUCA1 gene: 
    NM_000147.4  

    Unigene Cluster for FUCA1:

    Fucosidase, alpha-L- 1, tissue
    Hs.370858  [show with all ESTs]
    Unigene Representative Sequence: NM_000147
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000374479(uc010oed.1 uc001bie.3 uc009vqt.2)

    miRNA
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    hsa-miR-549 hsa-miR-330-5p hsa-miR-130a* hsa-miR-23c hsa-miR-23b hsa-miR-326 hsa-miR-4330 hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmid: FUCA1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FUCA1 (see all 4)
    OriGene shRNA RFP: FUCA1
    OriGene siRNA: FUCA1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FUCA1
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FUCA1 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: FUCA1 (NM_000147)
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FUCA1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FUCA1

    Additional cDNA sequence: 

    AB074175.1 AK092914.1 AK095443.1 AK095455.1 AK225468.1 AK295535.1 AK301302.1 AK310143.1 
    AK314649.1 BC017338.2 M10355.1 M29877.1 X01390.1 

    14 DOTS entries:

    DT.99984335  DT.121332493  DT.92429105  DT.318350  DT.99945652  DT.100822925  DT.100822930  DT.121332531 
    DT.100822929  DT.121332507  DT.121332509  DT.121332526  DT.121332533  DT.95175109 

    24/256 AceView cDNA sequences (see all 256):

    AI375604 H57085 AI352431 AI199711 AA360908 CB530020 F07079 CB136461 
    AI189062 AI636808 AA149328 CA426411 BX956202 BP342569 BQ009767 CB156826 
    AA053785 AA932844 R92208 BP368056 AI990365 BE383208 AI431856 BF514518 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for FUCA1    About this scheme

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


    ECgene alternative splicing isoforms for FUCA1

    Expression
    for FUCA1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FUCA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTATTTAGTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    FUCA1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See FUCA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FUCA1

    SOURCE GeneReport for Unigene cluster: Hs.370858
        SABiosciences Expression via Pathway-Focused PCR Array including FUCA1: 
              Glycosylation in human mouse rat

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for FUCA1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for FUCA1 gene from 5/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves FUCA11 fucosidase, alpha-L- 1, tissue 69.81(n)
    70.18(a)    		   419687  XM_417835.3  XP_417835.2 
    lizard
    (Anolis carolinensis)    		 Reptilia FUCA16
    		 --
    		 70(a)
    		 1 ↔ 1
    		 GL343498.1(71245-77866)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.72652 Xenopus laevis, Similar to fucosidase, alpha-L- 1, more 78.06(n)    BC042266.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii wufc59h042 Danio rerio mRNA similar to fucosidase, alpha-L- 1, more 74.2(n)    BC050158.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea W03G11.33 alpha-L-fucosidase precursor 45(a)   X(12136468-12138948)   --


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

    Paralogs
    for FUCA1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FUCA1 gene
    FUCA22  
    1 SIMAP similar gene for FUCA1 using alignment to 1 protein entry:     FUCO_HUMAN:
    FUCA2

    FUCA1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for FUCA1
    PGOHUM00000240438


    Genomic Variants
    for FUCA1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: FUCO_HUMAN, P04066
    Polymorphism: 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


    10/455 NCBI SNPs in FUCA1 are shown (see all 455)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs11268471,2
    		C--22423255(-) ACATCA/CCAATC 1 -- ut312Minor allele frequency- C:0.00NA 4
    rs168287541,2
    		C,--22423603(+) GATAAT/ATTCCA 1 -- ut313Minor allele frequency- A:0.01NA 142
    rs803581991,2
    		C--22424262(-) AAACCA/C/G/T 
                TGAAT     		4 H P R L mis10--------
    rs768267391,2
    		C,--22424307(+) CATAAA/CCAGCC 2 G V mis10--------
    rs46491201,2
    		H--22424372(+) ACTTGT/GTATCC 1 -- int14Minor allele frequency- G:0.00NS EA 418
    rs112760261,2
    		C--22424770(+) CCAGG-/CTCTTG
    TTGTCCAGG    ATGGA     		1 -- int11Minor allele frequency- CTCTTGTTGTCCAGG:0.00NA 2
    rs743938701,2
    		F,--22425168(+) ACTCAT/CTCCCC 1 -- int11Minor allele frequency- C:0.02WA 118
    rs168287571,2
    		C,F,H,--22425258(+) TGTGCA/GGGAAG 1 -- int1 trp310Minor allele frequency- G:0.05NA NS WA 1054
    rs1112810951,2
    		C,--22425883(+) AGTCTA/GAGCCA 1 -- int12Minor allele frequency- G:0.04NA 122
    rs803581971,2
    		C--22426793(-) TGTATA/C/G/T 
                GTGAG     		4 * S W L stg1 mis10--------

    HapMap Linkage Disequilibrium report for FUCA1 (24171567 - 24194859 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FUCA1: --
    Human Gene Mutation Database (HGMD): FUCA1

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for FUCA1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    FUCA1 for disorders           About GeneDecksing

    OMIM gene information: 612280   
    OMIM disorders: 230000  
    UniProtKB/Swiss-Prot: FUCO_HUMAN, P04066
  • Defects in FUCA1 are the cause of fucosidosis (FUCA1D) [MIM:230000]. FUCA1D is 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

    20/38 diseases for FUCA1 (see all 38):    About MalaCards
    lysosomal storage disease    fucosidosis    spastic quadriplegia    type 2 diabetes mellitus
    fabry disease    mucolipidosis    angiokeratoma    senile cataract
    laryngotracheitis    diabetes mellitus    quadriplegia    dysostosis
    acute myeloid leukemia    epithelial ovarian cancer    myeloid leukemia    viral hepatitis
    endometrial carcinoma    cataract    squamous cell carcinoma    hepatocellular carcinoma

    3 diseases from the University of Copenhagen DISEASES database for FUCA1:
    Fucosidosis     Laryngotracheitis     Angiokeratoma

    10/12 Novoseek disease relationships for FUCA1 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fucosidosis 96.7 27 8399358 (2), 8504303 (2), 1873910 (2), 14715651 (2) (see all 22)
    lysosomal storage diseases 74.6 8 8401503 (1), 17427030 (1), 1281988 (1), 8399358 (1) (see all 8)
    mucolipidosis iii 68.9 3 8286862 (2), 1822239 (1)
    fabry disease 67.9 2 2127769 (1), 11601762 (1)
    i-cell disease 58.8 4 8286862 (2), 1822239 (2)
    hepatocellular carcinoma 35.6 14 1716188 (2), 7514563 (2), 16773698 (2), 15313147 (1) (see all 8)
    endometrial carcinoma 5.68 1 7627975 (1)
    colorectal cancer 2.34 8 15258327 (5), 11096343 (3)
    niddm 0 2 10421218 (1), 16176171 (1)
    leukemia 0 2 2332987 (1), 1863862 (1)

    Genatlas disease: FUCA1
    fucosidosis

    Human Genome Epidemiology (HuGE) Navigator: FUCA1 (2 documents)

    Export disorders for FUCA1 gene to outside databases

    Publications
    for FUCA1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for FUCA1 gene, integrated from 9 sources (see all 169):
    (articles sorted by number of sources associating them with FUCA1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Human alpha-L-fucosidase: complete coding sequence from cDNA clones. (PubMed id 2803312)1, 2, 3 Occhiodoro T.... Hopwood J.J. (1989)
    2. Fucosidosis: four new mutations and a new polymorphism. (PubMed id 8504303)1, 2, 9 Seo H.-C.... O'Brien J.S. (1993)
    3. Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family. (PubMed id 8399358)1, 2, 9 Yang M.... Dicioccio R.A. (1993)
    4. Spectrum of mutations in fucosidosis. (PubMed id 10094192)1, 2, 9 Willems P.J.... O'Brien J.S. (1999)
    5. A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient. (PubMed id 7874128)1, 2, 9 Seo H.-C.... O'Brien J.S. (1994)
    6. Molecular basis of the common electrophoretic polymorphism (Fu1/Fu2) in human alpha-L-fucosidase. (PubMed id 7815431)1, 2, 9 Cragg H.... Swallow D. (1994)
    7. Sequencing and expression of a full-length cDNA for human alpha-L- fucosidase. (PubMed id 2174090)1, 2, 9 Fukushima H.... Okada S. (1990)
    8. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    External Searches for FUCA1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing FUCA1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2517 HGNC: 4006 AceView: FUCA1 Ensembl:ENSG00000179163 euGenes: HUgn2517
    ECgene: FUCA1 Kegg: 2517 H-InvDB: FUCA1

    Other Databases showing FUCA1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing FUCA1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FUCA1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FUCA1

    Intellectual Property
    for FUCA1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for FUCA1 gene:
    Search GeneIP for patents involving FUCA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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