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P04066

- FUCO_HUMAN

UniProt

P04066 - FUCO_HUMAN

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Protein

Tissue alpha-L-fucosidase

Gene
FUCA1, Nbla10230
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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.

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
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
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 – 3131 Reviewed predictionAdd
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...) Reviewed prediction
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.

Family & Domainsi

Sequence similaritiesi

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.

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti54 – 563DEA → NEV in BAC04002. 1 Publication
Sequence conflicti74 – 741S → T no nucleotide entry 1 Publication
Sequence conflicti76 – 772WF → FL in AAA52482. 1 Publication
Sequence conflicti76 – 772WF → FL in CAA25646. 1 Publication
Sequence conflicti93 – 11422Missing in BAC04002. 1 PublicationAdd
BLAST
Sequence conflicti127 – 1271A → T in BAC04002. 1 Publication
Sequence conflicti171 – 1711A → G in BAC04002. 1 Publication
Sequence conflicti244 – 2441N → D in BAC04002. 1 Publication
Sequence conflicti427 – 4271Q → P in AAA52482. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 155 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

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