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P04066

- FUCO_HUMAN

UniProt

P04066 - FUCO_HUMAN

Protein

Tissue alpha-L-fucosidase

Gene

FUCA1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 156 (01 Oct 2014)
      Sequence version 4 (24 Jul 2007)
      Previous versions | rss
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    Functioni

    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 activityi

    An alpha-L-fucoside + H2O = L-fucose + an alcohol.PROSITE-ProRule annotation

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei296 – 2961May be important for catalysis

    GO - Molecular functioni

    1. alpha-L-fucosidase activity Source: UniProtKB
    2. fucose binding Source: RefGenome

    GO - Biological processi

    1. fucose metabolic process Source: UniProt
    2. glycosaminoglycan catabolic process Source: UniProtKB
    3. glycoside catabolic process Source: UniProt

    Keywords - Molecular functioni

    Glycosidase, Hydrolase

    Enzyme and pathway databases

    BRENDAi3.2.1.51. 2681.
    SABIO-RKP04066.

    Protein family/group databases

    CAZyiGH29. Glycoside Hydrolase Family 29.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Tissue alpha-L-fucosidase (EC:3.2.1.51)
    Alternative name(s):
    Alpha-L-fucosidase I
    Alpha-L-fucoside fucohydrolase 1
    Short name:
    Alpha-L-fucosidase 1
    Gene namesi
    Name:FUCA1
    ORF Names:Nbla10230
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:4006. FUCA1.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. extracellular vesicular exosome Source: UniProt
    3. lysosome Source: RefGenome

    Keywords - Cellular componenti

    Lysosome

    Pathology & Biotechi

    Involvement in diseasei

    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti65 – 651G → D in FUCA1D; loss of activity. 1 Publication
    VAR_002442
    Natural varianti68 – 681S → L in FUCA1D. 1 Publication
    VAR_002443
    Natural varianti410 – 4101L → R in FUCA1D; less than 1% of residual activity. 1 Publication
    VAR_016235

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi230000. phenotype.
    Orphaneti349. Fucosidosis.
    PharmGKBiPA28422.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 3131Sequence AnalysisAdd
    BLAST
    Chaini32 – 466435Tissue alpha-L-fucosidasePRO_0000010308Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei170 – 1701Phosphothreonine1 Publication
    Glycosylationi241 – 2411N-linked (GlcNAc...)1 Publication
    Glycosylationi268 – 2681N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi382 – 3821N-linked (GlcNAc...)1 Publication

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiP04066.
    PaxDbiP04066.
    PRIDEiP04066.

    PTM databases

    PhosphoSiteiP04066.

    Expressioni

    Gene expression databases

    ArrayExpressiP04066.
    BgeeiP04066.
    CleanExiHS_FUCA1.
    GenevestigatoriP04066.

    Organism-specific databases

    HPAiHPA046542.

    Interactioni

    Subunit structurei

    Homotetramer.

    Protein-protein interaction databases

    BioGridi108793. 7 interactions.
    IntActiP04066. 3 interactions.
    STRINGi9606.ENSP00000363603.

    Structurei

    3D structure databases

    ProteinModelPortaliP04066.
    SMRiP04066. Positions 36-449.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glycosyl hydrolase 29 family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiCOG3669.
    HOGENOMiHOG000029598.
    HOVERGENiHBG002155.
    InParanoidiP04066.
    KOiK01206.
    OMAiIFLHWPD.
    OrthoDBiEOG7DC249.
    PhylomeDBiP04066.
    TreeFamiTF313034.

    Family and domain databases

    Gene3Di2.60.40.1180. 1 hit.
    3.20.20.80. 1 hit.
    InterProiIPR016286. FUC_metazoa-typ.
    IPR028755. FUCA1.
    IPR013780. Glyco_hydro_13_b.
    IPR000933. Glyco_hydro_29.
    IPR018526. Glyco_hydro_29_CS.
    IPR013781. Glyco_hydro_catalytic_dom.
    IPR017853. Glycoside_hydrolase_SF.
    [Graphical view]
    PANTHERiPTHR10030. PTHR10030. 1 hit.
    PTHR10030:SF2. PTHR10030:SF2. 1 hit.
    PfamiPF01120. Alpha_L_fucos. 1 hit.
    [Graphical view]
    PIRSFiPIRSF001092. Alpha-L-fucosidase. 1 hit.
    PRINTSiPR00741. GLHYDRLASE29.
    SMARTiSM00812. Alpha_L_fucos. 1 hit.
    [Graphical view]
    SUPFAMiSSF51445. SSF51445. 1 hit.
    PROSITEiPS00385. ALPHA_L_FUCOSIDASE. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P04066-1 [UniParc]FASTAAdd to Basket

    « Hide

    MRAPGMRSRP AGPALLLLLL FLGAAESVRR AQPPRRYTPD WPSLDSRPLP    50
    AWFDEAKFGV FIHWGVFSVP AWGSEWFWWH WQGEGRPQYQ RFMRDNYPPG 100
    FSYADFGPQF TARFFHPEEW ADLFQAAGAK YVVLTTKHHE GFTNWPSPVS 150
    WNWNSKDVGP HRDLVGELGT ALRKRNIRYG LYHSLLEWFH PLYLLDKKNG 200
    FKTQHFVSAK TMPELYDLVN SYKPDLIWSD GEWECPDTYW NSTNFLSWLY 250
    NDSPVKDEVV VNDRWGQNCS CHHGGYYNCE DKFKPQSLPD HKWEMCTSID 300
    KFSWGYRRDM ALSDVTEESE IISELVQTVS LGGNYLLNIG PTKDGLIVPI 350
    FQERLLAVGK WLSINGEAIY ASKPWRVQWE KNTTSVWYTS KGSAVYAIFL 400
    HWPENGVLNL ESPITTSTTK ITMLGIQGDL KWSTDPDKGL FISLPQLPPS 450
    AVPAEFAWTI KLTGVK 466
    Length:466
    Mass (Da):53,689
    Last modified:July 24, 2007 - v4
    Checksum:iD9A38ECC7BADCBBB
    GO

    Sequence cautioni

    The sequence CAA25646.1 differs from that shown. Reason: Translation of X01390 sequence produces a larger peptide than that shown in CAA25646.1.
    The sequence AAA35519.1 differs from that shown. Reason: Erroneous initiation.
    The sequence AAA52481.1 differs from that shown. Reason: Erroneous initiation.
    The sequence AAH17338.1 differs from that shown. Reason: Erroneous initiation.
    The sequence BAG37210.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti54 – 563DEA → NEV in BAC04002. (PubMed:14702039)Curated
    Sequence conflicti74 – 741S → T no nucleotide entry (PubMed:2174090)Curated
    Sequence conflicti76 – 772WF → FL in AAA52482. (PubMed:2983333)Curated
    Sequence conflicti76 – 772WF → FL in CAA25646. (PubMed:6096099)Curated
    Sequence conflicti93 – 11422Missing in BAC04002. (PubMed:14702039)CuratedAdd
    BLAST
    Sequence conflicti127 – 1271A → T in BAC04002. (PubMed:14702039)Curated
    Sequence conflicti171 – 1711A → G in BAC04002. (PubMed:14702039)Curated
    Sequence conflicti244 – 2441N → D in BAC04002. (PubMed:14702039)Curated
    Sequence conflicti427 – 4271Q → P in AAA52482. (PubMed:2983333)Curated

    Polymorphismi

    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.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti2 – 21R → W.
    Corresponds to variant rs2070955 [ dbSNP | Ensembl ].
    VAR_049106
    Natural varianti10 – 101P → R.
    Corresponds to variant rs2070956 [ dbSNP | Ensembl ].
    VAR_016233
    Natural varianti65 – 651G → D in FUCA1D; loss of activity. 1 Publication
    VAR_002442
    Natural varianti68 – 681S → L in FUCA1D. 1 Publication
    VAR_002443
    Natural varianti146 – 1461P → L.
    Corresponds to variant rs2228424 [ dbSNP | Ensembl ].
    VAR_049107
    Natural varianti260 – 2601V → I.
    Corresponds to variant rs665 [ dbSNP | Ensembl ].
    VAR_049108
    Natural varianti269 – 2691C → S.3 Publications
    Corresponds to variant rs1126512 [ dbSNP | Ensembl ].
    VAR_016234
    Natural varianti286 – 2861Q → R in allele FUCA1*2. 5 Publications
    Corresponds to variant rs13551 [ dbSNP | Ensembl ].
    VAR_002444
    Natural varianti410 – 4101L → R in FUCA1D; less than 1% of residual activity. 1 Publication
    VAR_016235

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M80815
    , M80809, M80810, M80811, M80812, M80813, M80814 Genomic DNA. Translation: AAA52481.1. Different initiation.
    AB074175 mRNA. Translation: BAE45738.1.
    AK092914 mRNA. Translation: BAC04002.1.
    AK314649 mRNA. Translation: BAG37210.1. Different initiation.
    AL590728 Genomic DNA. Translation: CAH74004.2.
    BC017338 mRNA. Translation: AAH17338.1. Different initiation.
    M29877 mRNA. Translation: AAA35519.1. Different initiation.
    M10355 mRNA. Translation: AAA52482.1.
    X01390 mRNA. Translation: CAA25646.1. Sequence problems.
    CCDSiCCDS244.2.
    PIRiA33427. HWHUFA.
    RefSeqiNP_000138.2. NM_000147.4.
    UniGeneiHs.370858.

    Genome annotation databases

    EnsembliENST00000374479; ENSP00000363603; ENSG00000179163.
    GeneIDi2517.
    KEGGihsa:2517.
    UCSCiuc001bie.3. human.

    Polymorphism databases

    DMDMi156631012.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M80815
    , M80809 , M80810 , M80811 , M80812 , M80813 , M80814 Genomic DNA. Translation: AAA52481.1 . Different initiation.
    AB074175 mRNA. Translation: BAE45738.1 .
    AK092914 mRNA. Translation: BAC04002.1 .
    AK314649 mRNA. Translation: BAG37210.1 . Different initiation.
    AL590728 Genomic DNA. Translation: CAH74004.2 .
    BC017338 mRNA. Translation: AAH17338.1 . Different initiation.
    M29877 mRNA. Translation: AAA35519.1 . Different initiation.
    M10355 mRNA. Translation: AAA52482.1 .
    X01390 mRNA. Translation: CAA25646.1 . Sequence problems.
    CCDSi CCDS244.2.
    PIRi A33427. HWHUFA.
    RefSeqi NP_000138.2. NM_000147.4.
    UniGenei Hs.370858.

    3D structure databases

    ProteinModelPortali P04066.
    SMRi P04066. Positions 36-449.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108793. 7 interactions.
    IntActi P04066. 3 interactions.
    STRINGi 9606.ENSP00000363603.

    Chemistry

    BindingDBi P04066.
    ChEMBLi CHEMBL4176.

    Protein family/group databases

    CAZyi GH29. Glycoside Hydrolase Family 29.

    PTM databases

    PhosphoSitei P04066.

    Polymorphism databases

    DMDMi 156631012.

    Proteomic databases

    MaxQBi P04066.
    PaxDbi P04066.
    PRIDEi P04066.

    Protocols and materials databases

    DNASUi 2517.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000374479 ; ENSP00000363603 ; ENSG00000179163 .
    GeneIDi 2517.
    KEGGi hsa:2517.
    UCSCi uc001bie.3. human.

    Organism-specific databases

    CTDi 2517.
    GeneCardsi GC01M024171.
    HGNCi HGNC:4006. FUCA1.
    HPAi HPA046542.
    MIMi 230000. phenotype.
    612280. gene.
    neXtProti NX_P04066.
    Orphaneti 349. Fucosidosis.
    PharmGKBi PA28422.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG3669.
    HOGENOMi HOG000029598.
    HOVERGENi HBG002155.
    InParanoidi P04066.
    KOi K01206.
    OMAi IFLHWPD.
    OrthoDBi EOG7DC249.
    PhylomeDBi P04066.
    TreeFami TF313034.

    Enzyme and pathway databases

    BRENDAi 3.2.1.51. 2681.
    SABIO-RK P04066.

    Miscellaneous databases

    GeneWikii Fucosidase.
    GenomeRNAii 2517.
    NextBioi 35468073.
    PROi P04066.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P04066.
    Bgeei P04066.
    CleanExi HS_FUCA1.
    Genevestigatori P04066.

    Family and domain databases

    Gene3Di 2.60.40.1180. 1 hit.
    3.20.20.80. 1 hit.
    InterProi IPR016286. FUC_metazoa-typ.
    IPR028755. FUCA1.
    IPR013780. Glyco_hydro_13_b.
    IPR000933. Glyco_hydro_29.
    IPR018526. Glyco_hydro_29_CS.
    IPR013781. Glyco_hydro_catalytic_dom.
    IPR017853. Glycoside_hydrolase_SF.
    [Graphical view ]
    PANTHERi PTHR10030. PTHR10030. 1 hit.
    PTHR10030:SF2. PTHR10030:SF2. 1 hit.
    Pfami PF01120. Alpha_L_fucos. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF001092. Alpha-L-fucosidase. 1 hit.
    PRINTSi PR00741. GLHYDRLASE29.
    SMARTi SM00812. Alpha_L_fucos. 1 hit.
    [Graphical view ]
    SUPFAMi SSF51445. SSF51445. 1 hit.
    PROSITEi PS00385. ALPHA_L_FUCOSIDASE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Fucosidosis: four new mutations and a new polymorphism."
      Seo H.-C., Willems P.J., Kretz K.A., Martin B.M., O'Brien J.S.
      Hum. Mol. Genet. 2:423-429(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT FUCA1D ASP-65, VARIANT ARG-286.
    2. "Neuroblastoma oligo-capping cDNA project: toward the understanding of the genesis and biology of neuroblastoma."
      Ohira M., Morohashi A., Nakamura Y., Isogai E., Furuya K., Hamano S., Machida T., Aoyama M., Fukumura M., Miyazaki K., Suzuki Y., Sugano S., Hirato J., Nakagawara A.
      Cancer Lett. 197:63-68(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Neuroblastoma.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ARG-286.
      Tissue: Spleen and Umbilical cord blood.
    4. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Skin.
    6. "Human alpha-L-fucosidase: complete coding sequence from cDNA clones."
      Occhiodoro T., Beckmann K.R., Morris C.P., Hopwood J.J.
      Biochem. Biophys. Res. Commun. 164:439-445(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2-466, VARIANT SER-269.
    7. "Sequencing and expression of a full-length cDNA for human alpha-L-fucosidase."
      Fukushima H., Nishimoto J., Okada S.
      J. Inherit. Metab. Dis. 13:761-765(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 3-92.
      Tissue: Placenta.
    8. "Molecular cloning of a cDNA for human alpha-L-fucosidase."
      Fukushima H., de Wet J.R., O'Brien J.S.
      Proc. Natl. Acad. Sci. U.S.A. 82:1262-1265(1985) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 75-427.
    9. "Chromogenic immunodetection of human serum albumin and alpha-L-fucosidase clones in a human hepatoma cDNA expression library."
      de Wet J.R., Fukushima H., Dewji N.N., Wilcox E., O'Brien J.S., Helinski D.R.
      DNA 3:437-447(1984) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 75-426.
    10. "Molecular biology of the alpha-6L-fucosidase gene and fucosidosis."
      O'Brien J.S., Willems P.J., Fukushima H., de Wet J.R., Darby J.K., Dicioccio R.A., Fowler M.L., Shows T.B.
      Enzyme 38:45-53(1987) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 75-426, VARIANT SER-269.
    11. "Structural analysis of the carbohydrate moieties of alpha-L-fucosidase from human liver."
      Beem E.P., Lisman J.J.W., van Steijn G.J., van der Wal C.J., Trippelvitz L.A.W., Overdijk B., van Halbeek H., Mutsaers J.H.G.M., Vliegenthart J.F.G.
      Glycoconj. J. 4:33-42(1987)
      Cited for: STRUCTURE OF CARBOHYDRATES.
    12. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
      J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-241 AND ASN-382.
      Tissue: Liver.
    13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    14. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-170, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    15. "Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family."
      Yang M., Allen H., Dicioccio R.A.
      Biochim. Biophys. Acta 1182:245-249(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ARG-286.
    16. "A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient."
      Seo H.-C., Yang M., Tonlorenzi R., Willems P.J., Kim A.H., Filocamo M., Gatti R., Dicioccio R.A., O'Brien J.S.
      Hum. Mol. Genet. 3:2065-2066(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT FUCA1D LEU-68.
    17. "Molecular basis of the common electrophoretic polymorphism (Fu1/Fu2) in human alpha-L-fucosidase."
      Cragg H., Winchester B., Seo H.-C., O'Brien J.S., Swallow D.
      J. Med. Genet. 31:659-660(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ARG-286.
    18. "A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the alpha-fucosidase gene."
      Fleming C.J., Sinclair D.U., White E.J., Winchester B., Whiteford M.L., Connor J.M.
      J. Inherit. Metab. Dis. 21:688-689(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT FUCA1D ARG-410.
    19. Cited for: REVIEW ON VARIANTS.
    20. "A novel FUCA1 mutation causing fucosidosis in a Chinese boy."
      Ip P., Goh W., Chan K.W., Cheung P.T.
      J. Inherit. Metab. Dis. 25:415-416(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS SER-269 AND ARG-286.

    Entry informationi

    Entry nameiFUCO_HUMAN
    AccessioniPrimary (citable) accession number: P04066
    Secondary accession number(s): B2RBG3
    , Q14334, Q14335, Q3LID0, Q8NAC2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1986
    Last sequence update: July 24, 2007
    Last modified: October 1, 2014
    This is version 156 of the entry and version 4 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Glycosyl hydrolases
      Classification of glycosyl hydrolase families and list of entries
    2. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3