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Title: NEUR1_HUMAN      
description:
Sialidase-1 BNR 1 BNR 2 BNR 3 BNR 4 FRIP motif Internalization signal Proton acceptor Nucleophile Substrate Substrate Substrate Substrate Substrate N-linked (GlcNAc...) N-linked (GlcNAc...) N-linked (GlcNAc...) In SIALIDOSIS; type 1; mild mutation as residual activity is still measurable. In SIALIDOSIS; type 2; less than 10% of activity. In SIALIDOSIS; type 2; no enzyme activity; retained in the endoplasmic reticulum / Golgi or rapidly degraded in the lysosomes; dbSNP:rs104893985. In dbSNP:rs34712643. In SIALIDOSIS; type 2; dbSNP:rs104893972. In SIALIDOSIS; type 1; normally processed; dbSNP:rs398123392. In SIALIDOSIS; type 1; partial transport and residual transport activity; dbSNP:rs28940583. In SIALIDOSIS; type 1; unable to reach the lysosomes; dbSNP:rs754068739. In SIALIDOSIS; type 2; impaired enzyme folding; dbSNP:rs28940584. In SIALIDOSIS; type 1 and juvenile type 2; catalytically inactive; retained in pre-lysosomal compartments; dbSNP:rs769765227. In SIALIDOSIS; type 1; unable to reach the lysosomes; dbSNP:rs762400331. In SIALIDOSIS; type 2; no enzyme activity; retained in the endoplasmic reticulum / Golgi or rapidly degraded in the lysosomes; dbSNP:rs104893978. In SIALIDOSIS; type 1; no enzyme activity and no transport to the lysosome; dbSNP:rs104893983. In SIALIDOSIS; infantile type 2; catalytically inactive; rapid intralysosomal degradation; dbSNP:rs104893977. In SIALIDOSIS; type 2; reduction in enzyme activity; rapid intralysosomal degradation. In SIALIDOSIS. In SIALIDOSIS; type 1; mild mutation as residual activity is still measurable; dbSNP:rs190549838. In SIALIDOSIS; type 2; less than 10% of activity; rapid intralysosomal degradation; impaired enzyme folding; dbSNP:rs104893981. In SIALIDOSIS; type 1; no enzyme activity; retained in the endoplasmic reticulum / Golgi or rapidly degraded in the lysosomes; dbSNP:rs104893979. In SIALIDOSIS; type 1; reduction in enzyme activity; dbSNP:rs534846786. In SIALIDOSIS; type 2; unable to reach the lysosomes; dbSNP:rs749996046. In SIALIDOSIS; type 2; affects substrate binding or catalysis; dbSNP:rs751458617. In SIALIDOSIS; infantile type 2; unable to reach the lysosomes; dbSNP:rs193922915. In SIALIDOSIS; infantile type 2; catalytically inactive. In SIALIDOSIS; type 1; mild mutation as residual activity is still measurable. Correct sorting to the plasma membrane but no endocytosis and internalization Correct sorting to the plasma membrane but no endocytosis and internalization Correct sorting to the plasma membrane but no endocytosis and internalization
types:
sequence
dateReleased:
05-01-1997
ID:
Q99519
privacy:
not applicable
keywords:
Carbohydrate metabolism
Cell membrane
Complete proteome
Cytoplasmic vesicle
Direct protein sequencing
Disease mutation
Glycoprotein
Glycosidase
Hydrolase
Lipid degradation
Lipid metabolism
Lysosome
Membrane
Phosphoprotein
Polymorphism
Reference proteome
Repeat
Signal
availability:
available
refinement:
curated
version:
1
aggregation:
instance of dataset
name:
Homo sapiens
strain:
Human
ID:
ncbitax:9606
name:
Sialidase-1
authorization:
none
authentication:
none
format:
HTML
storedIn:
UniProt
accessType:
landing page
qualifier:
not compressed
accessURL: http://www.uniprot.org/uniprot/Q99519
license:
Creative Commons Attribution-NoDerivs License
authorization:
none
authentication:
none
format:
FASTA
storedIn:
UniProt
accessType:
download
qualifier:
not compressed
accessURL: http://www.uniprot.org/uniprot/Q99519.fasta
license:
Creative Commons Attribution-NoDerivs License
name:
European Bioinformatics Institute
abbreviation:
EMBL-EBI
ID:
SCR:004727
homePage: http://www.ebi.ac.uk/
name:
UniProt
abbreviation:
UniProt
ID:
SCR:002380
homePage: http://www.uniprot.org/

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