Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



FUCA1 Gene

protein-coding   GIFtS: 65
GCID: GC01M024171

Fucosidase, Alpha-L- 1, Tissue

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

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


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

TryGeneCards Plus

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 laryngotracheitis. GO annotations related to this gene include alpha-L-fucosidase activity and fucose binding. An important paralog of this gene is FUCA2.

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) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   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 plasmidFUCA1 promoter sequence
   Search Chromatin IP Primers for FUCA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: FUCO_HUMAN, P04066 (See protein sequence)
Recommended Name: Tissue alpha-L-fucosidase precursor  
Size: 466 amino acids; 53689 Da
Subunit: Homotetramer
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

Explore proteomics data for FUCA1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn241, Asn268, Asn382
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for FUCA1 (P04066) (see all 12)
     NWNSKDV  KHHEGFT  HWGVFSVP  WFDEAKFG 


    See FUCA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000138.2  
    ENSEMBL proteins: 
     ENSP00000363603  

    FUCA1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for FUCA1 (Tissue alpha-L-Fucosidase/FUCA1)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for FUCA1
    OriGene Protein Over-expression Lysate for FUCA1
    OriGene MassSpec for FUCA1
    OriGene Custom Protein Services for FUCA1
    GenScript Custom Purified and Recombinant Proteins Services for FUCA1
    Novus Biologicals FUCA1 Proteins
    Novus Biologicals FUCA1 Lysates
    Sino Biological Recombinant Protein for FUCA1
    Sino Biological Cell Lysate for FUCA1
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    FUCA1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for FUCA1 (Tissue alpha-L-Fucosidase/FUCA1)
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for FUCA1
    Novus Biologicals FUCA1 Antibodies
    Abcam antibodies for FUCA1
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for FUCA1
    LSBio Antibodies in human, mouse, rat for FUCA1

    FUCA1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for FUCA1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for FUCA1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    Selected InterPro protein domains (see all 7):
     IPR016286 FUC_metazoa-typ
     IPR017853 Glycoside_hydrolase_SF
     IPR028755 FUCA1
     IPR013781 Glyco_hydro_catalytic_dom
     IPR018526 Glyco_hydro_29_CS

    Graphical View of Domain Structure for InterPro Entry P04066

    ProtoNet protein and cluster: P04066

    1 Blocks protein domain: IPB000933 Glycoside hydrolase

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


    FUCA1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004560alpha-L-fucosidase activity TAS11698403
    GO:0015928fucosidase activity ----
    GO:0030246carbohydrate binding ----
    GO:0042806fucose binding IBA--
         
    FUCA1 for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FUCA1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FUCA1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FUCA1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FUCA1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat FUCA1 using miScript Target Protectors
    8 qRT-PCR 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 plasmidFUCA1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for FUCA1
    Predesigned siRNA for gene silencing in human, mouse, rat FUCA1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for FUCA1

    Clone
    Products:
         
    OriGene clones in human, mouse for FUCA1 (see all 7)
    OriGene ORF clones in mouse, rat for FUCA1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FUCA1 (NM_000147)
    Sino Biological Human cDNA Clone for FUCA1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FUCA1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FUCA1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for FUCA1
    Browse ESI BIO Cell Lines and PureStem Progenitors for FUCA1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FUCA1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    FUCO_HUMAN, P04066: Lysosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    extracellular2
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IC11698403
    GO:0005764lysosome IBA--
    GO:0070062extracellular vesicular exosome IDA19056867

    FUCA1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for FUCA1 About    
    See pathways by source

    SuperPathContained pathways About
    1Other glycan degradation
    Other glycan degradation
    2Lysosome
    Lysosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




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


    FUCA1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including FUCA1: 
              Glycosylation in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for FUCA1

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

    Selected 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): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process ----
    GO:0006004fucose metabolic process IDA19666478
    GO:0006027glycosaminoglycan catabolic process NAS11698403
    GO:0016139glycoside catabolic process IDA19666478

    FUCA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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

    Browse Tocris compounds for FUCA1 (FUCO)

    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--

    Selected Novoseek inferred 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)



    FUCA1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    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
    Products:
         
    Block miRNA regulation of human, mouse, rat FUCA1 using miScript Target Protectors
    8 qRT-PCR 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 plasmidFUCA1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for FUCA1
    Predesigned siRNA for gene silencing in human, mouse, rat FUCA1
    Clone
    Products:
         
    OriGene clones in human, mouse for FUCA1 (see all 7)
    OriGene ORF clones in mouse, rat for FUCA1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FUCA1 (NM_000147)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FUCA1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FUCA1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for FUCA1
    OriGene qSTAR qPCR primer pairs in human, mouse for FUCA1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FUCA1
      QuantiTect SYBR Green Assays in human, mouse, rat FUCA1
      QuantiFast Probe-based Assays in human, mouse, rat FUCA1

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 256):

    BQ009767 BP341483 BC017338 AA360908 CB530020 AA361534 BM992054 AI376187 
    AA873046 BQ575195 CB529580 BM830135 CB157002 R92208 AA149329 CB136461 
    BX956711 AI431856 BP368726 BE875835 BE218328 AU141232 BP375331 N91479 

    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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    FUCA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTATTTAGTT
    FUCA1 Expression
    About this image


    FUCA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    FUCA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FUCA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.370858
        Pathway & Disease-focused RT2 Profiler PCR Array including FUCA1: 
              Glycosylation in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for FUCA1
    OriGene qSTAR qPCR primer pairs in human, mouse for FUCA1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FUCA1
    QuantiTect SYBR Green Assays in human, mouse, rat FUCA1
    QuantiFast Probe-based Assays in human, mouse, rat FUCA1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FUCA1

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for FUCA1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fuca11 , 5 fucosidase, alpha-L- 1, tissue1, 5 83.83(n)1
    84.83(a)1
      4 (68.01 cM)5
    716651  NM_024243.41  NP_077205.31 
     1359207355 
    chicken
    (Gallus gallus)
    Aves FUCA11 fucosidase, alpha-L- 1, tissue 70.46(n)
    71.23(a)
      419687  XM_417835.4  XP_417835.2 
    lizard
    (Anolis carolinensis)
    Reptilia FUCA16
    fucosidase, alpha-L- 1, tissue
    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 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG61283 O-glycoside catabolism
    alpha-L-fucosidase
    46(a)     --
    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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    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


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Polymorphic Variants from UniProtKB/Swiss-Prot
    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


    Selected SNPs for FUCA1 (see all 587)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0024424
    Fucosidosis (FUCA1D)4--see VAR_0024422 G D mis40--------
    VAR_0024434
    Fucosidosis (FUCA1D)4--see VAR_0024432 S L mis40--------
    VAR_0162354
    Fucosidosis (FUCA1D)4--see VAR_0162352 L R mis40--------
    rs135511,2,,4
    C,F,Hnon-pathogenic124395177(-) GCCACA/GGAGCT 2 Q R mis116Minor allele frequency- G:0.27MN NS EA NA WA EU 7072
    rs803581991,2
    Cpathogenic124386812(-) AAACCG/TTGAAT 2 R L mis10--------
    rs803581971,2
    Cpathogenic124389357(-) TGTATA/GGTGAG 2 * W stg10--------
    rs803581951,2
    Cpathogenic124389379(-) AATGGC/G/TAAAAG 2 E * stg10--------
    rs803581981,2
    C,Fpathogenic124403852(-) CTGTAA/C/TGACCT 2 * Y stg11NA 4548
    rs803581961,2
    Cpathogenic124408747(-) ACTGGC/TAGGGC 2 Q * stg10--------
    rs710266321,2
    C--22439466(+) AAAAA-/A/GGAATG 1 -- int11NA 2

    HapMap Linkage Disequilibrium report for FUCA1 (24171567 - 24194859 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for FUCA1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2745352CNV Deletion23290073
    esv2745330CNV Deletion23290073
    esv2742159CNV Deletion23290073
    esv2745375CNV Deletion23290073
    esv2745364CNV Deletion23290073
    esv2745341CNV Deletion23290073

    Human Gene Mutation Database (HGMD): FUCA1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FUCA1
    DNA2.0 Custom Variant and Variant Library Synthesis for FUCA1

    (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

    TryGeneCards Plus
    OMIM gene information: 612280   
    OMIM disorders: 230000  
    UniProtKB/Swiss-Prot: FUCO_HUMAN, P04066
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for FUCA1 (see all 36):    
    About MalaCards
    fucosidosis    laryngotracheitis    lysosomal storage disease    angiokeratoma
    quadriplegia    spastic quadriplegia    fabry disease    mucolipidosis
    senile cataract    dysostosis    lyme disease    viral hepatitis
    epididymitis    cataract    endometrial carcinoma    hepatocellular carcinoma
    hypothyroidism    oral cancer    spasticity    colorectal cancer

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

    FUCA1 for disorders           About GeneDecksing

    Selected Novoseek inferred 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

    Genetic Association Database (GAD): FUCA1
    Human Genome Epidemiology (HuGE) Navigator: FUCA1 (2 documents)

    Export disorders for FUCA1 gene to outside databases

    (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

    TryGeneCards Plus

    PubMed articles for FUCA1 gene, integrated from 10 sources (see all 172):
    (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. (Biochem. Biophys. Res. Commun. 1989)
    2. Fucosidosis: four new mutations and a new polymorphism. (PubMed id 8504303)1, 2, 9 Seo H.-C.... O'Brien J.S. (Hum. Mol. Genet. 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. (Biochim. Biophys. Acta 1993)
    4. Spectrum of mutations in fucosidosis. (PubMed id 10094192)1, 2, 9 Willems P.J.... O'Brien J.S. (Eur. J. Hum. Genet. 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. (Hum. Mol. Genet. 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. (J. Med. Genet. 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. (J. Inherit. Metab. Dis. 1990)
    8. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    9. Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women. (PubMed id 19064572)1, 4 Palmieri R.T.... . (amp 2008)
    10. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 2517 HGNC: 4006 AceView: FUCA1 Ensembl:ENSG00000179163 euGenes: HUgn2517
    ECgene: FUCA1 Kegg: 2517 H-InvDB: FUCA1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for FUCA1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=FUCA1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Antibodies for FUCA1 (Tissue alpha-L-Fucosidase/FUCA1)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Recombinant/Natural Proteins for FUCA1 (Tissue alpha-L-Fucosidase/FUCA1)   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for FUCA1  
     OriGene qPCR primer pairs and template standards for FUCA1   OriGene Protein Over-expression Lysate for FUCA1  
     OriGene MassSpec something-or-other for FUCA1   OriGene clones in human, mouse for FUCA1  
     OriGene qSTAR qPCR primer pairs in human, mouse for FUCA1   OriGene Purified Protein for FUCA1  
     OriGene ORF clones in mouse, rat for FUCA1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for FUCA1   OriGene Custom Protein Services for FUCA1  

     
     
     Block miRNA regulation of human, mouse, rat FUCA1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing FUCA1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FUCA1 Predesigned siRNA for gene silencing in human, mouse, rat FUCA1
     QuantiFast Probe-based Assays in human, mouse, rat FUCA1 QuantiTect SYBR Green Assays in human, mouse, rat FUCA1
     PCR Arrays including human, mouse, rat FUCA1 Search Chromatin IP Primers for FUCA1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FUCA1  Search GeneGlobe Interaction Network for FUCA1
     Regulatory tfbs in FUCA1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for FUCA1 GenScript cDNA clones with any tag delivered in your preferred vector for FUCA1
     GenScript Custom Assay Services for FUCA1 GenScript Custom overexpressing Cell Line Services for FUCA1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for FUCA1 (FUCO)
     Proteins for FUCA1
     Cell Lysates for FUCA1
     cDNA Clones for FUCA1
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     FUCA1 antibodies
     FUCA1 proteins
     FUCA1 lysates
     Antibodies for FUCA1
     See all of Abcam's Antibodies, Kits and Proteins for FUCA1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors for FUCA1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FUCA1
     SwitchGear 3'UTR luciferase reporter plasmids for FUCA1
     SwitchGear Promoter luciferase reporter plasmids for FUCA1
     Search ThermoFisher Antibodies for FUCA1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FUCA1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FUCA1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FUCA1
     LSBio Antibodies in human, mouse, rat for FUCA1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      FUCA1 gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4