Reviewed,
UniProtKB/Swiss-Prot P04066 (FUCO_HUMAN)
Last modified
November 3, 2009.
Version 111.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Tissue alpha-L-fucosidase EC=3.2.1.51 Alternative name(s): Alpha-L-fucoside fucohydrolase Alpha-L-fucosidase I Alpha-L-fucosidase 1 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 466 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| 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 + H2O = L-fucose + an alcohol. |
| Subunit structure | Homotetramer. |
| Subcellular location | |
| 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. |
| Involvement in disease | 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. Ref.1 Ref.15 Ref.17 |
| Sequence similarities | Belongs to the glycosyl hydrolase 29 family. |
| Sequence caution | The sequence CAA25646.1 differs from that shown. Reason: Miscellaneous discrepancy. Translation of X01390 sequence produces a larger peptide than that shown in CAA25646.1. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Lysosome |
| Coding sequence diversity | Polymorphism |
| Disease | Disease mutation |
| Domain | Signal |
| Molecular function | Glycosidase Hydrolase |
| PTM | Glycoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | fucose metabolic process Inferred from electronic annotation. Source: InterPro glycosaminoglycan catabolic processNon-traceable author statement. Source: UniProtKB |
| Cellular component | lysosome Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | alpha-L-fucosidase activity Traceable author statement. Source: UniProtKB |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 31 | 31 | Potential | ||||||
| Chain | 32 – 466 | 435 | Tissue alpha-L-fucosidase | PRO_0000010308 | |||||
Sites | |||||||||
| Site | 296 | 1 | May be important for catalysis | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 241 | 1 | N-linked (GlcNAc...) Ref.13 | ||||||
| Glycosylation | 268 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 382 | 1 | N-linked (GlcNAc...) Ref.13 | ||||||
Natural variations | |||||||||
| Natural variant | 2 | 1 | R → W: dbSNP rs2070955. | VAR_049106 | |||||
| Natural variant | 10 | 1 | P → R: dbSNP rs2070956. | VAR_016233 | |||||
| Natural variant | 65 | 1 | G → D in FUCA1D; loss of activity. Ref.1 | VAR_002442 | |||||
| Natural variant | 68 | 1 | S → L in FUCA1D. Ref.15 | VAR_002443 | |||||
| Natural variant | 146 | 1 | P → L: dbSNP rs2228424. | VAR_049107 | |||||
| Natural variant | 260 | 1 | V → I: dbSNP rs665. | VAR_049108 | |||||
| Natural variant | 269 | 1 | C → S: dbSNP rs1126512. Ref.6 Ref.10 Ref.19 | VAR_016234 | |||||
| Natural variant | 286 | 1 | Q → R in allele FUCA1*2. dbSNP rs13551. Ref.1 Ref.19 Ref.14 Ref.16 | VAR_002444 | |||||
| Natural variant | 410 | 1 | L → R in FUCA1D; less than 1% of residual activity. Ref.17 | VAR_016235 | |||||
Experimental info | |||||||||
| Sequence conflict | 54 – 56 | 3 | DEA → NEV in BAC04002. Ref.3 | ||||||
| Sequence conflict | 74 | 1 | S → T Ref.7 | ||||||
| Sequence conflict | 76 – 77 | 2 | WF → FL in AAA52482. Ref.8 | ||||||
| Sequence conflict | 76 – 77 | 2 | WF → FL in CAA25646. Ref.9 | ||||||
| Sequence conflict | 93 – 114 | 22 | Missing in BAC04002. Ref.3 | ||||||
| Sequence conflict | 127 | 1 | A → T in BAC04002. Ref.3 | ||||||
| Sequence conflict | 171 | 1 | A → G in BAC04002. Ref.3 | ||||||
| Sequence conflict | 244 | 1 | N → D in BAC04002. Ref.3 | ||||||
| Sequence conflict | 427 | 1 | Q → P in AAA52482. Ref.8 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [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: 8504303] [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: 12880961] [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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Spleen. |
| [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. Bentley D.R.Nature 441:315-321(2006) [PubMed: 16710414] [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: 15489334] [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: 2803312] [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: 2174090] [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: 2983333] [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: 6096099] [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: 2894306] [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] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| [13] | "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: 19159218] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-241 AND ASN-382, MASS SPECTROMETRY. Tissue: Liver. |
| [14] | "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: 8399358] [Abstract] Cited for: VARIANT ARG-286. |
| [15] | "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: 7874128] [Abstract] Cited for: VARIANT FUCA1D LEU-68. |
| [16] | "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: 7815431] [Abstract] Cited for: VARIANT ARG-286. |
| [17] | "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: 9762612] [Abstract] Cited for: VARIANT FUCA1D ARG-410. |
| [18] | "Spectrum of mutations in fucosidosis." Willems P.J., Seo H.-C., Coucke P., Tonlorenzi R., O'Brien J.S. Eur. J. Hum. Genet. 7:60-67(1999) [PubMed: 10094192] [Abstract] Cited for: REVIEW ON VARIANTS. |
| [19] | "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: 12408193] [Abstract] Cited for: VARIANTS SER-269 AND ARG-286. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
M80815 M80814 Genomic DNA. Translation: AAA52481.1. Different initiation.AB074175 mRNA. Translation: BAE45738.1. AK092914 mRNA. Translation: BAC04002.1. 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. | |
| IPI | IPI00843910. |
| PIR | HWHUFA. A33427. |
| RefSeq | NP_000138.2. |
| UniGene | Hs.370858 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | P04066. |
Protein family/group databases | |
| CAZy | GH29. Glycoside Hydrolase Family 29. |
Proteomic databases | |
| PRIDE | P04066. |
Genome annotation databases | |
| Ensembl | ENST00000374475; ENSP00000363599; ENSG00000179163; Homo sapiens. [Genome view] ENST00000374479; ENSP00000363603; ENSG00000179163; Homo sapiens. [Genome view] |
| GeneID | 2517. |
| KEGG | hsa:2517. |
| UCSC | uc001bie.1. human. |
Organism-specific databases | |
| CTD | 2517. |
| GeneCards | GC01M024044. |
| H-InvDB | HIX0020062. |
| HGNC | HGNC:4006. FUCA1. |
| MIM | 230000. phenotype. 612280. gene. |
| Orphanet | 349. Fucosidosis. |
| PharmGKB | PA28422. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | P04066. |
| OMA | SKAIRAQ. |
Enzyme and pathway databases | |
| BRENDA | 3.2.1.51. 247. |
Gene expression databases | |
| ArrayExpress | P04066. |
| Bgee | P04066. |
| CleanEx | HS_FUCA1. |
| Genevestigator | P04066. |
| GermOnline | ENSG00000179163. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR000933. Glyco_hydro_29. IPR018526. Glyco_hydro_29_CS. IPR016286. Glyco_hydro_29_sub. [Graphical view] |
| PANTHER | PTHR10030. Glyco_hydro_29. 1 hit. |
| Pfam | PF01120. Alpha_L_fucos. 1 hit. [Graphical view] |
| PIRSF | PIRSF001092. Alpha-L-fucosidase. 1 hit. |
| PRINTS | PR00741. GLHYDRLASE29. |
| PROSITE | PS00385. ALPHA_L_FUCOSIDASE. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 9913. |
| SOURCE | Search... |
Entry information
| Entry name | FUCO_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P04066 Secondary accession number(s): Q14334 Q8NAC2 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Glycosyl hydrolases Classification of glycosyl hydrolase families and list of entries |
| Human chromosome 1 Human chromosome 1: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


