You are using an unsupported browser. Please upgrade your browser to a newer version to get the best experience on Human Metabolome Database.
Identification
HMDB Protein ID HMDBP00875
Secondary Accession Numbers
  • 6157
Name Tissue alpha-L-fucosidase
Synonyms
  1. Alpha-L-fucosidase 1
  2. Alpha-L-fucosidase I
  3. Alpha-L-fucoside fucohydrolase 1
Gene Name FUCA1
Protein Type Enzyme
Biological Properties
General Function Involved in alpha-L-fucosidase activity
Specific 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.
Pathways
  • Lysosome
  • Other glycan degradation
Reactions
An alpha-L-fucoside + Water → L-Fucose + an alcohol details
GO Classification
Biological Process
fucose metabolic process
glycosaminoglycan catabolic process
Cellular Component
cytoplasm
lysosome
Function
catalytic activity
hydrolase activity
hydrolase activity, acting on glycosyl bonds
hydrolase activity, hydrolyzing o-glycosyl compounds
fucosidase activity
alpha-l-fucosidase activity
Molecular Function
alpha-L-fucosidase activity
cation binding
Process
metabolic process
fucose metabolic process
primary metabolic process
carbohydrate metabolic process
small molecule metabolic process
alcohol metabolic process
monosaccharide metabolic process
hexose metabolic process
Cellular Location
  1. Lysosome
Gene Properties
Chromosome Location 1
Locus 1p34
SNPs FUCA1
Gene Sequence
>1401 bp
ATGCGGGCTCCGGGGATGAGGTCGCGGCCGGCGGGTCCCGCGCTGTTGCTGCTGCTGCTC
TTCCTCGGAGCGGCCGAGTCGGTGCGTCGGGCCCAGCCTCCGCGCCGCTACACCCCAGAC
TGGCCGAGCCTGGATTCTCGGCCGCTGCCGGCCTGGTTCGACGAAGCCAAGTTCGGGGTG
TTCATCCACTGGGGCGTGTTCTCGGTGCCCGCCTGGGGCAGCGAGTGGTTCTGGTGGCAC
TGGCAGGGCGAGGGGCGGCCGCAGTACCAGCGCTTCATGCGCGACAACTACCCGCCCGGC
TTCAGCTACGCCGACTTCGGACCGCAGTTCACTGCGCGCTTCTTCCACCCGGAGGAGTGG
GCCGACCTCTTCCAGGCCGCGGGCGCCAAGTATGTAGTTTTGACGACAAAGCATCACGAA
GGCTTCACAAACTGGCCGAGTCCTGTGTCTTGGAACTGGAACTCCAAAGACGTGGGGCCT
CATCGGGATTTGGTTGGTGAATTGGGAACAGCTCTCCGGAAGAGGAACATCCGCTATGGA
CTATACCACTCACTCTTAGAGTGGTTCCATCCACTCTATCTACTTGATAAGAAAAATGGC
TTCAAAACACAGCATTTTGTCAGTGCAAAAACAATGCCAGAGCTGTACGACCTTGTTAAC
AGCTATAAACCTGATCTGATCTGGTCTGATGGGGAGTGGGAATGTCCTGATACTTACTGG
AACTCCACAAATTTTCTTTCATGGCTCTACAATGACAGCCCTGTCAAGGATGAGGTGGTA
GTAAATGACCGATGGGGTCAGAACTGTTCCTGTCACCATGGAGGATACTATAACTGTGAA
GATAAATTCAAGCCACAGAGCTTGCCAGATCACAAGTGGGAGATGTGCACCAGCATTGAC
AAGTTTTCCTGGGGCTATCGTCGTGACATGGCATTGTCTGATGTTACAGAAGAATCTGAA
ATCATTTCGGAACTGGTTCAGACAGTAAGTTTGGGAGGCAACTATCTTCTGAACATTGGA
CCAACTAAAGATGGACTGATTGTTCCCATCTTCCAAGAAAGGCTTCTTGCTGTTGGGAAA
TGGCTGAGCATCAATGGGGAGGCTATCTATGCCTCCAAACCATGGCGGGTGCAATGGGAA
AAGAACACAACATCTGTATGGTATACCTCAAAGGGATCGGCTGTTTATGCCATTTTTCTG
CACTGGCCAGAAAATGGAGTCTTAAACCTTGAATCCCCCATAACTACCTCAACTACAAAG
ATAACAATGCTGGGAATTCAAGGAGATCTGAAGTGGTCCACAGATCCAGATAAAGGTCTC
TTCATCTCTCTACCCCAGTTGCCACCCTCTGCTGTCCCCGCAGAGTTTGCTTGGACTATA
AAGCTGACAGGAGTGAAGTAA
Protein Properties
Number of Residues 466
Molecular Weight 53688.475
Theoretical pI 6.848
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Tissue alpha-L-fucosidase
MRAPGMRSRPAGPALLLLLLFLGAAESVRRAQPPRRYTPDWPSLDSRPLPAWFDEAKFGV
FIHWGVFSVPAWGSEWFWWHWQGEGRPQYQRFMRDNYPPGFSYADFGPQFTARFFHPEEW
ADLFQAAGAKYVVLTTKHHEGFTNWPSPVSWNWNSKDVGPHRDLVGELGTALRKRNIRYG
LYHSLLEWFHPLYLLDKKNGFKTQHFVSAKTMPELYDLVNSYKPDLIWSDGEWECPDTYW
NSTNFLSWLYNDSPVKDEVVVNDRWGQNCSCHHGGYYNCEDKFKPQSLPDHKWEMCTSID
KFSWGYRRDMALSDVTEESEIISELVQTVSLGGNYLLNIGPTKDGLIVPIFQERLLAVGK
WLSINGEAIYASKPWRVQWEKNTTSVWYTSKGSAVYAIFLHWPENGVLNLESPITTSTTK
ITMLGIQGDLKWSTDPDKGLFISLPQLPPSAVPAEFAWTIKLTGVK
GenBank ID Protein 76879796
UniProtKB/Swiss-Prot ID P04066
UniProtKB/Swiss-Prot Entry Name FUCO_HUMAN
PDB IDs Not Available
GenBank Gene ID AB074175
GeneCard ID FUCA1
GenAtlas ID FUCA1
HGNC ID HGNC:4006
References
General References
  1. Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. J Proteome Res. 2009 Feb;8(2):651-61. doi: 10.1021/pr8008012. [PubMed:19159218 ]
  2. 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 TO, 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: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed:14702039 ]
  3. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  4. Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z, Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R, Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S, Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, Prigmore E: The DNA sequence and biological annotation of human chromosome 1. Nature. 2006 May 18;441(7091):315-21. [PubMed:16710414 ]
  5. Seo HC, Willems PJ, Kretz KA, Martin BM, O'Brien JS: Fucosidosis: four new mutations and a new polymorphism. Hum Mol Genet. 1993 Apr;2(4):423-9. [PubMed:8504303 ]
  6. 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: Neuroblastoma oligo-capping cDNA project: toward the understanding of the genesis and biology of neuroblastoma. Cancer Lett. 2003 Jul 18;197(1-2):63-8. [PubMed:12880961 ]
  7. Occhiodoro T, Beckmann KR, Morris CP, Hopwood JJ: Human alpha-L-fucosidase: complete coding sequence from cDNA clones. Biochem Biophys Res Commun. 1989 Oct 16;164(1):439-45. [PubMed:2803312 ]
  8. Fukushima H, Nishimoto J, Okada S: Sequencing and expression of a full-length cDNA for human alpha-L-fucosidase. J Inherit Metab Dis. 1990;13(5):761-5. [PubMed:2174090 ]
  9. Fukushima H, de Wet JR, O'Brien JS: Molecular cloning of a cDNA for human alpha-L-fucosidase. Proc Natl Acad Sci U S A. 1985 Feb;82(4):1262-5. [PubMed:2983333 ]
  10. de Wet JR, Fukushima H, Dewji NN, Wilcox E, O'Brien JS, Helinski DR: Chromogenic immunodetection of human serum albumin and alpha-L-fucosidase clones in a human hepatoma cDNA expression library. DNA. 1984 Dec;3(6):437-47. [PubMed:6096099 ]
  11. O'Brien JS, Willems PJ, Fukushima H, de Wet JR, Darby JK, Di Cioccio R, Fowler ML, Shows TB: Molecular biology of the alpha-L-fucosidase gene and fucosidosis. Enzyme. 1987;38(1-4):45-53. [PubMed:2894306 ]
  12. Yang M, Allen H, DiCioccio RA: Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family. Biochim Biophys Acta. 1993 Oct 20;1182(3):245-9. [PubMed:8399358 ]
  13. Seo HC, Yang M, Tonlorenzi R, Willems PJ, Kim AH, Filocamo M, Gatti R, DiCioccio RA, O'Brien JS: A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient. Hum Mol Genet. 1994 Nov;3(11):2065-6. [PubMed:7874128 ]
  14. Cragg H, Winchester B, Seo HC, O'Brien J, Swallow D: Molecular basis of the common electrophoretic polymorphism (Fu1/Fu2) in human alpha-L-fucosidase. J Med Genet. 1994 Aug;31(8):659-60. [PubMed:7815431 ]
  15. Fleming CJ, Sinclair DU, White EJ, Winchester B, Whiteford ML, Connor JM: A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the alpha-fucosidase gene. J Inherit Metab Dis. 1998 Aug;21(6):688-9. [PubMed:9762612 ]
  16. Willems PJ, Seo HC, Coucke P, Tonlorenzi R, O'Brien JS: Spectrum of mutations in fucosidosis. Eur J Hum Genet. 1999 Jan;7(1):60-7. [PubMed:10094192 ]
  17. Ip P, Goh W, Chan KW, Cheung PT: A novel FUCA1 mutation causing fucosidosis in a Chinese boy. J Inherit Metab Dis. 2002 Sep;25(5):415-6. [PubMed:12408193 ]