From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
Sialidase-1 , is a mammalian lysosomal
neuraminidase enzyme which in humans is encoded by the NEU1
gene .
[5]
[6]
Function
The protein SIALIDASE-1 encoded by the NEU-1 gene encodes the lysosomal enzyme SIALIDASE-1, which cleaves terminal
sialic acid residues from substrates such as
glycoproteins and
glycolipids . In the
lysosome , this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter also referred to as 'protective protein'). Mutations in this gene can lead to
sialidosis .
[5]
Clinical significance
Mutations in NEU1 leads to
sialidosis , a rare
lysosomal storage disease .
[7] Sialidase has also been shown to enhance recovery from spinal cord contusion injury when injected in rats.
[8]
Interactions
NEU1 has been shown to
interact with
Cathepsin A .
[9]
References
^
a
b
c
ENSG00000184494, ENSG00000223957, ENSG00000234846, ENSG00000204386, ENSG00000234343, ENSG00000227315, ENSG00000228691 GRCh38: Ensembl release 89: ENSG00000227129, ENSG00000184494, ENSG00000223957, ENSG00000234846, ENSG00000204386, ENSG00000234343, ENSG00000227315, ENSG00000228691 –
Ensembl , May 2017
^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000007038 –
Ensembl , May 2017
^
"Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
"Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
a
b
"Entrez Gene: NEU1 sialidase 1 (lysosomal sialidase)" .
^ Pshezhetsky AV, Richard C, Michaud L, Igdoura S, Wang S, Elsliger MA, Qu J, Leclerc D, Gravel R, Dallaire L, Potier M (March 1997). "Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis". Nat. Genet . 15 (3): 316–20.
doi :
10.1038/ng0397-316 .
PMID
9054950 .
S2CID
31588761 .
^ Seyrantepe V, Poupetova H, Froissart R, Zabot MT, Maire I, Pshezhetsky AV (November 2003). "Molecular pathology of NEU1 gene in sialidosis". Hum. Mutat . 22 (5): 343–52.
doi :
10.1002/humu.10268 .
PMID
14517945 .
S2CID
22333886 .
^ Mountney A, Zahner MR, Lorenzini I, Oudega M, Schramm LP, Schnaar RL (June 2010).
"Sialidase enhances recovery from spinal cord contusion injury" . PNAS . 107 (25): 11561–6.
Bibcode :
2010PNAS..10711561M .
doi :
10.1073/pnas.1006683107 .
PMC
2895144 .
PMID
20534525 .
^ van der Spoel A, Bonten E, d'Azzo A (Mar 1998).
"Transport of human lysosomal neuraminidase to mature lysosomes requires protective protein/cathepsin A" . EMBO J . 17 (6): 1588–97.
doi :
10.1093/emboj/17.6.1588 .
PMC
1170506 .
PMID
9501080 .
Further reading
Okamura-Oho Y, Zhang S, Callahan JW (1994). "The biochemistry and clinical features of galactosialidosis". Biochim. Biophys. Acta . 1225 (3): 244–54.
doi :
10.1016/0925-4439(94)90002-7 .
PMID
8312369 .
Seyrantepe V, Poupetova H, Froissart R, Zabot MT, Maire I, Pshezhetsky AV (2004). "Molecular pathology of NEU1 gene in sialidosis". Hum. Mutat . 22 (5): 343–52.
doi :
10.1002/humu.10268 .
PMID
14517945 .
S2CID
22333886 .
Verheijen FW, Palmeri S, Galjaard H (1987). "Purification and partial characterization of lysosomal neuraminidase from human placenta". Eur. J. Biochem . 162 (1): 63–7.
doi :
10.1111/j.1432-1033.1987.tb10542.x .
PMID
3102233 .
Verheijen FW, Palmeri S, Hoogeveen AT, Galjaard H (1985). "Human placental neuraminidase. Activation, stabilization and association with beta-galactosidase and its protective protein". Eur. J. Biochem . 149 (2): 315–21.
doi :
10.1111/j.1432-1033.1985.tb08928.x .
PMID
3922758 .
Hu H, Shioda T, Moriya C, Xin X, Hasan MK, Miyake K, Shimada T, Nagai Y (1996).
"Infectivities of human and other primate lentiviruses are activated by desialylation of the virion surface" . J. Virol . 70 (11): 7462–70.
doi :
10.1128/JVI.70.11.7462-7470.1996 .
PMC
190813 .
PMID
8892864 .
Pshezhetsky AV, Potier M (1996).
"Association of N-acetylgalactosamine-6-sulfate sulfatase with the multienzyme lysosomal complex of beta-galactosidase, cathepsin A, and neuraminidase. Possible implication for intralysosomal catabolism of keratan sulfate" . J. Biol. Chem . 271 (45): 28359–65.
doi :
10.1074/jbc.271.45.28359 .
PMID
8910459 .
Bonten E, van der Spoel A, Fornerod M, Grosveld G, d'Azzo A (1997).
"Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis" . Genes Dev . 10 (24): 3156–69.
doi :
10.1101/gad.10.24.3156 .
PMID
8985184 . * Milner CM, Smith SV, Carrillo MB, Taylor GL, Hollinshead M, Campbell RD (1997).
"Identification of a sialidase encoded in the human major histocompatibility complex" . J. Biol. Chem . 272 (7): 4549–58.
doi :
10.1074/jbc.272.7.4549 .
PMID
9020182 .
Pshezhetsky AV, Richard C, Michaud L, Igdoura S, Wang S, Elsliger MA, Qu J, Leclerc D, Gravel R, Dallaire L, Potier M (1997). "Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis". Nat. Genet . 15 (3): 316–20.
doi :
10.1038/ng0397-316 .
PMID
9054950 .
S2CID
31588761 .
Vinogradova MV, Michaud L, Mezentsev AV, Lukong KE, El-Alfy M, Morales CR, Potier M, Pshezhetsky AV (1998).
"Molecular mechanism of lysosomal sialidase deficiency in galactosialidosis involves its rapid degradation" . Biochem. J . 330 ( Pt 2) (Pt 2): 641–50.
doi :
10.1042/bj3300641 .
PMC
1219185 .
PMID
9480870 .
van der Spoel A, Bonten E, d'Azzo A (1998).
"Transport of human lysosomal neuraminidase to mature lysosomes requires protective protein/cathepsin A" . EMBO J . 17 (6): 1588–97.
doi :
10.1093/emboj/17.6.1588 .
PMC
1170506 .
PMID
9501080 .
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 (2000).
"Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex" . Hum. Mol. Genet . 9 (7): 1075–85.
doi :
10.1093/hmg/9.7.1075 .
PMID
10767332 .
Naganawa Y, Itoh K, Shimmoto M, Takiguchi K, Doi H, Nishizawa Y, Kobayashi T, Kamei S, Lukong KE, Pshezhetsky AV, Sakuraba H (2000).
"Molecular and structural studies of Japanese patients with sialidosis type 1" . J. Hum. Genet . 45 (4): 241–9.
doi :
10.1007/s100380070034 .
PMID
10944856 .
Bonten EJ, Arts WF, Beck M, Covanis A, Donati MA, Parini R, Zammarchi E, d'Azzo A (2000).
"Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis" . Hum. Mol. Genet . 9 (18): 2715–25.
doi :
10.1093/hmg/9.18.2715 .
PMID
11063730 .
Lukong KE, Landry K, Elsliger MA, Chang Y, Lefrancois S, Morales CR, Pshezhetsky AV (2001).
"Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex" . J. Biol. Chem . 276 (20): 17286–90.
doi :
10.1074/jbc.M100460200 .
PMID
11279074 .
Penzel R, Uhl J, Kopitz J, Beck M, Otto HF, Cantz M (2001).
"Splice donor site mutation in the lysosomal neuraminidase gene causing exon skipping and complete loss of enzyme activity in a sialidosis patient" . FEBS Lett . 501 (2–3): 135–8.
doi :
10.1016/S0014-5793(01)02645-X .
PMID
11470272 .
S2CID
27689049 . * Lukong KE, Seyrantepe V, Landry K, Trudel S, Ahmad A, Gahl WA, Lefrancois S, Morales CR, Pshezhetsky AV (2002).
"Intracellular distribution of lysosomal sialidase is controlled by the internalization signal in its cytoplasmic tail" . J. Biol. Chem . 276 (49): 46172–81.
doi :
10.1074/jbc.M104547200 .
PMID
11571282 .
Sergi C, Penzel R, Uhl J, Zoubaa S, Dietrich H, Decker N, Rieger P, Kopitz J, Otto HF, Kiessling M, Cantz M (2001). "Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene". Hum. Genet . 109 (4): 421–8.
doi :
10.1007/s004390100592 .
PMID
11702224 .
S2CID
24374154 .
Itoh K, Naganawa Y, Matsuzawa F, Aikawa S, Doi H, Sasagasako N, Yamada T, Kira J, Kobayashi T, Pshezhetsky AV, Sakuraba H (2002).
"Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes" . J. Hum. Genet . 47 (1): 29–37.
doi :
10.1007/s10038-002-8652-7 .
PMID
11829139 .