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Identification
HMDB Protein ID HMDBP00323
Secondary Accession Numbers
  • 5559
  • HMDBP04830
Name Sialidase-1
Synonyms
  1. Acetylneuraminyl hydrolase
  2. G9 sialidase
  3. Lysosomal sialidase
  4. N-acetyl-alpha-neuraminidase 1
Gene Name NEU1
Protein Type Enzyme
Biological Properties
General Function Involved in exo-alpha-sialidase activity
Specific Function Catalyzes the removal of sialic acid (N-acetylneuramic acid) moities from glycoproteins and glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a preference for alpha 2-3 and alpha 2-6 sialyl linkage.
Pathways
  • Lysosome
  • Other glycan degradation
  • sphingolipid metabolism
Reactions
Galactosylceramide + N-Acetylneuraminic acid → GM4 + Water details
GO Classification
Biological Process
small molecule metabolic process
phospholipid metabolic process
glycosphingolipid metabolic process
Cellular Component
plasma membrane
cell junction
lysosomal lumen
lysosomal membrane
cytoplasmic membrane-bounded vesicle
Molecular Function
exo-alpha-(2->3)-sialidase activity
exo-alpha-(2->6)-sialidase activity
exo-alpha-(2->8)-sialidase activity
exo-alpha-sialidase activity
Cellular Location
  1. Cell membrane
  2. Peripheral membrane protein
  3. Cytoplasmic vesicle
  4. Lysosome membrane
  5. Lumenal side
  6. Lysosome lumen
Gene Properties
Chromosome Location Not Available
Locus Not Available
SNPs NEU1
Gene Sequence
>1248 bp
ATGACTGGGGAGCGACCCAGCACGGCGCTCCCGGACAGACGCTGGGGGCCGCGGATTCTG
GGCTTCTGGGGAGGCTGTAGGGTTTGGGTGTTTGCCGCGATCTTCCTGCTGCTGTCTCTG
GCAGCCTCCTGGTCCAAGGCTGAGAACGACTTCGGTCTGGTGCAGCCGCTGGTGACCATG
GAGCAACTGCTGTGGGTGAGCGGGAGACAGATCGGCTCAGTGGACACCTTCCGCATCCCG
CTCATCACAGCCACTCCGCGGGGCACTCTTCTCGCCTTTGCTGAGGCGAGGAAAATGTCC
TCATCCGATGAGGGGGCCAAGTTCATCGCCCTGCGGAGGTCCATGGACCAGGGCAGCACA
TGGTCTCCTACAGCGTTCATTGTCAATGATGGGGATGTCCCCGATGGGCTGAACCTTGGG
GCAGTAGTGAGCGATGTTGAGACAGGAGTAGTATTTCTTTTCTACTCCCTTTGTGCTCAC
AAGGCCGGCTGCCAGGTGGCCTCTACCATGTTGGTATGGAGCAAGGATGATGGTGTTTCC
TGGAGCACACCCCGGAATCTCTCCCTGGATATTGGCACTGAAGTGTTTGCCCCTGGACCG
GGCTCTGGTATTCAGAAACAGCGGGAGCCACGGAAGGGCCGCCTCATCGTGTGTGGCCAT
GGGACGCTGGAGCGGGACGGAGTCTTCTGTCTCCTCAGCGATGATCATGGTGCCTCCTGG
CGCTACGGAAGTGGGGTCAGCGGCATCCCCTACGGTCAGCCCAAGCAGGAAAATGATTTC
AATCCTGATGAATGCCAGCCCTATGAGCTCCCAGATGGCTCAGTCGTCATCAATGCCCGA
AACCAGAACAACTACCACTGCCACTGCCGAATTGTCCTCCGCAGCTATGATGCCTGTGAT
ACACTAAGGCCCCGTGATGTGACCTTCGACCCTGAGCTCGTGGACCCTGTGGTAGCTGCA
GGAGCTGTAGTCACCAGCTCCGGCATTGTCTTCTTCTCCAACCCAGCACATCCAGAGTTC
CGAGTGAACCTGACCCTGCGATGGAGCTTCAGCAATGGTACCTCATGGCGGAAAGAGACA
GTCCAGCTATGGCCAGGCCCCAGTGGCTATTCATCCCTGGCAACCCTGGAGGGCAGCATG
GATGGAGAGGAGCAGGCCCCCCAGCTCTACGTCCTGTATGAGAAAGGCCGGAACCACTAC
ACAGAGAGCATCTCCGTGGCCAAAATCAGTGTCTATGGGACACTCTGA
Protein Properties
Number of Residues 415
Molecular Weight Not Available
Theoretical pI Not Available
Pfam Domain Function Not Available
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Sialidase-1
MTGERPSTALPDRRWGPRILGFWGGCRVWVFAAIFLLLSLAASWSKAENDFGLVQPLVTM
EQLLWVSGRQIGSVDTFRIPLITATPRGTLLAFAEARKMSSSDEGAKFIALRRSMDQGST
WSPTAFIVNDGDVPDGLNLGAVVSDVETGVVFLFYSLCAHKAGCQVASTMLVWSKDDGVS
WSTPRNLSLDIGTEVFAPGPGSGIQKQREPRKGRLIVCGHGTLERDGVFCLLSDDHGASW
RYGSGVSGIPYGQPKQENDFNPDECQPYELPDGSVVINARNQNNYHCHCRIVLRSYDACD
TLRPRDVTFDPELVDPVVAAGAVVTSSGIVFFSNPAHPEFRVNLTLRWSFSNGTSWRKET
VQLWPGPSGYSSLATLEGSMDGEEQAPQLYVLYEKGRNHYTESISVAKISVYGTL
GenBank ID Protein Not Available
UniProtKB/Swiss-Prot ID Q99519
UniProtKB/Swiss-Prot Entry Name NEUR1_HUMAN
PDB IDs Not Available
GenBank Gene ID AF040958
GeneCard ID NEU1
GenAtlas ID NEU1
HGNC ID HGNC:7758
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. 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 ]
  3. Tao WA, Wollscheid B, O'Brien R, Eng JK, Li XJ, Bodenmiller B, Watts JD, Hood L, Aebersold R: Quantitative phosphoproteome analysis using a dendrimer conjugation chemistry and tandem mass spectrometry. Nat Methods. 2005 Aug;2(8):591-8. [PubMed:16094384 ]
  4. Bonten E, van der Spoel A, Fornerod M, Grosveld G, d'Azzo A: Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. Genes Dev. 1996 Dec 15;10(24):3156-69. [PubMed:8985184 ]
  5. Milner CM, Smith SV, Carrillo MB, Taylor GL, Hollinshead M, Campbell RD: Identification of a sialidase encoded in the human major histocompatibility complex. J Biol Chem. 1997 Feb 14;272(7):4549-58. [PubMed:9020182 ]
  6. Pshezhetsky AV, Richard C, Michaud L, Igdoura S, Wang S, Elsliger MA, Qu J, Leclerc D, Gravel R, Dallaire L, Potier M: Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis. Nat Genet. 1997 Mar;15(3):316-20. [PubMed:9054950 ]
  7. Xie T, Rowen L, Aguado B, Ahearn ME, Madan A, Qin S, Campbell RD, Hood L: Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse. Genome Res. 2003 Dec;13(12):2621-36. [PubMed:14656967 ]
  8. Vinogradova MV, Michaud L, Mezentsev AV, Lukong KE, El-Alfy M, Morales CR, Potier M, Pshezhetsky AV: Molecular mechanism of lysosomal sialidase deficiency in galactosialidosis involves its rapid degradation. Biochem J. 1998 Mar 1;330 ( Pt 2):641-50. [PubMed:9480870 ]
  9. Lukong KE, Seyrantepe V, Landry K, Trudel S, Ahmad A, Gahl WA, Lefrancois S, Morales CR, Pshezhetsky AV: Intracellular distribution of lysosomal sialidase is controlled by the internalization signal in its cytoplasmic tail. J Biol Chem. 2001 Dec 7;276(49):46172-81. Epub 2001 Sep 24. [PubMed:11571282 ]
  10. Lukong KE, Elsliger MA, Chang Y, Richard C, Thomas G, Carey W, Tylki-Szymanska A, Czartoryska B, Buchholz T, Criado GR, Palmeri S, Pshezhetsky AV: Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex. Hum Mol Genet. 2000 Apr 12;9(7):1075-85. [PubMed:10767332 ]
  11. Bonten EJ, Arts WF, Beck M, Covanis A, Donati MA, Parini R, Zammarchi E, d'Azzo A: Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis. Hum Mol Genet. 2000 Nov 1;9(18):2715-25. [PubMed:11063730 ]
  12. Naganawa Y, Itoh K, Shimmoto M, Takiguchi K, Doi H, Nishizawa Y, Kobayashi T, Kamei S, Lukong KE, Pshezhetsky AV, Sakuraba H: Molecular and structural studies of Japanese patients with sialidosis type 1. J Hum Genet. 2000;45(4):241-9. [PubMed:10944856 ]
  13. Lukong KE, Landry K, Elsliger MA, Chang Y, Lefrancois S, Morales CR, Pshezhetsky AV: Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex. J Biol Chem. 2001 May 18;276(20):17286-90. Epub 2001 Feb 20. [PubMed:11279074 ]
  14. Itoh K, Naganawa Y, Matsuzawa F, Aikawa S, Doi H, Sasagasako N, Yamada T, Kira J, Kobayashi T, Pshezhetsky AV, Sakuraba H: Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes. J Hum Genet. 2002;47(1):29-37. [PubMed:11829139 ]
  15. Pattison S, Pankarican M, Rupar CA, Graham FL, Igdoura SA: Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression. Hum Mutat. 2004 Jan;23(1):32-9. [PubMed:14695530 ]