NEU1
entrez
4758
canonical
uniprot
Q99519
canonical
ensembl
ENSG00000184494
resolver
ensembl
ENSG00000204386
resolver
ensembl
ENSG00000223957
resolver
ensembl
ENSG00000227129
resolver
ensembl
ENSG00000227315
resolver
ensembl
ENSG00000228691
resolver
ensembl
ENSG00000234343
resolver
ensembl
ENSG00000234846
resolver
ensp
ENSP00000229725
resolver
ensp
ENSP00000364782
resolver
ensp
ENSP00000399309
resolver
ensp
ENSP00000401067
resolver
ensp
ENSP00000403720
resolver
ensp
ENSP00000408207
resolver
ensp
ENSP00000408957
resolver
ensp
ENSP00000409489
resolver
enst
ENST00000229725
resolver
enst
ENST00000375631
resolver
enst
ENST00000411774
resolver
enst
ENST00000422978
resolver
enst
ENST00000423382
resolver
enst
ENST00000434496
resolver
enst
ENST00000437432
resolver
enst
ENST00000439648
resolver
genesymbol
NEU1
resolver
genesymbol_syn
NANH
resolver
hgnc
HGNC:7758
resolver
uniprot
Q5JQI0
resolver
uniprot_entry
NEUR1_HUMAN
resolver
uniprot_entry
Q5JQI0_HUMAN
resolver
amino_acid_sequence
MTGERPSTALPDRRWGPRILGFWGGCRVWVFAAIFLLLSLAASWSKAENDFGLVQPLVTMEQLLWVSGRQIGSVDTFRIPLITATPRGTLLAFAEARKMSSSDEGAKFIALRRSMDQGSTWSPTAFIVNDGDVPDGLNLGAVVSDVETGVVFLFYSLCAHKAGCQVASTMLVWSKDDGVSWSTPRNLSLDIGTEVFAPGPGSGIQKQREPRKGRLIVCGHGTLERDGVFCLLSDDHGASWRYGSGVSGIPYGQPKQENDFNPDECQPYELPDGSVVINARNQNNYHCHCRIVLRSYDACDTLRPRDVTFDPELVDPVVAAGAVVTSSGIVFFSNPAHPEFRVNLTLRWSFSNGTSWRKETVQLWPGPSGYSSLATLEGSMDGEEQAPQLYVLYEKGRNHYTESISVAKISVYGTL
uniprot
proteins
disease_involvement
DISEASE: Sialidosis (SIALIDOSIS) [MIM:256550]: Lysosomal storage disease occurring as two types with various manifestations. Type 1 sialidosis (cherry red spot-myoclonus syndrome or normosomatic type) is late-onset and it is characterized by the formation of cherry red macular spots in childhood, progressive debilitating myoclonus, insiduous visual loss and rarely ataxia. The diagnosis can be confirmed by the screening of the urine for sialyloligosaccharides. Type 2 sialidosis (also known as dysmorphic type) occurs as several variants of increasing severity with earlier age of onset. It is characterized by the presence of abnormal somatic features including coarse facies and dysostosis multiplex, vertebral deformities, intellectual disability, cherry-red spot/myoclonus, sialuria, cytoplasmic vacuolation of peripheral lymphocytes, bone marrow cells and conjunctival epithelial cells. {ECO:0000269|PubMed:10767332, ECO:0000269|PubMed:10944856, ECO:0000269|PubMed:11063730, ECO:0000269|PubMed:11279074, ECO:0000269|PubMed:11829139, ECO:0000269|PubMed:14695530, ECO:0000269|PubMed:25153125, ECO:0000269|PubMed:33798445, ECO:0000269|PubMed:8985184, ECO:0000269|PubMed:9054950}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.2.1.18
uniprot
proteins
function
FUNCTION: Lysosomal exo-alpha-sialidase that catalyzes the removal of sialic acid (N-acetylneuraminic acid) moieties from glycoproteins and glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex (PubMed:14695530, PubMed:25153125, PubMed:37205763, PubMed:8985184, PubMed:9054950). Appears to have a preference for alpha 2-3 and alpha 2-6 sialyl linkage. {ECO:0000269|PubMed:14695530, ECO:0000269|PubMed:25153125, ECO:0000269|PubMed:37205763, ECO:0000269|PubMed:8985184, ECO:0000269|PubMed:9054950}.
uniprot
proteins
mass_dalton
45467
uniprot
proteins
mutagenesis
MUTAGEN 57; /note="L->M: Decreased exo-alpha-sialidase activity. Loss of oligomerization. Keeps forming homodimers."; /evidence="ECO:0000269|PubMed:37205763"; MUTAGEN 103; /note="D->A,N: Loss of exo-alpha-sialidase activity."; /evidence="ECO:0000269|PubMed:37205763"; MUTAGEN 104; /note="E->A: Decreased exo-alpha-sialidase activity."; /evidence="ECO:0000269|PubMed:37205763"; MUTAGEN 138; /note="N->A: Decreased exo-alpha-sialidase activity."; /evidence="ECO:0000269|PubMed:37205763"; MUTAGEN 220; /note="H->S: Loss of exo-alpha-sialidase activity."; /evidence="ECO:0000269|PubMed:37205763"; MUTAGEN 249; /note="I->Y: Loss of exo-alpha-sialidase activity. Loss of oligomerization. Keeps forming homodimers."; /evidence="ECO:0000269|PubMed:37205763"; MUTAGEN 263; /note="D->A: Loss of exo-alpha-sialidase activity."; /evidence="ECO:0000269|PubMed:37205763"; MUTAGEN 412; /note="Y->A: Loss of internalization from the plasma membrane to the lysosome."; /evidence="ECO:0000269|PubMed:11571282"; MUTAGEN 413; /note="G->A: Loss of internalization from the plasma membrane to the lysosome."; /evidence="ECO:0000269|PubMed:11571282"; MUTAGEN 415; /note="L->A: Loss of internalization from the plasma membrane to the lysosome."; /evidence="ECO:0000269|PubMed:11571282
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:8985184, ECO:0000269|PubMed:9020182, ECO:0000269|PubMed:9480870}.; PTM: Phosphorylation of tyrosine within the internalization signal results in inhibition of sialidase internalization and blockage on the plasma membrane. {ECO:0000269|PubMed:11571282}.
uniprot
proteins
protein_family
Glycosyl hydrolase 33 family
uniprot
proteins
pubmed
10767332
uniprot
proteins
pubmed
10944856
uniprot
proteins
pubmed
11063730
uniprot
proteins
pubmed
11279074
uniprot
proteins
pubmed
11571282
uniprot
proteins
pubmed
11829139
uniprot
proteins
pubmed
14656967
uniprot
proteins
pubmed
14695530
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25153125
uniprot
proteins
pubmed
27917893
uniprot
proteins
pubmed
33798445
uniprot
proteins
pubmed
37205763
uniprot
proteins
pubmed
8985184
uniprot
proteins
pubmed
9020182
uniprot
proteins
pubmed
9054950
uniprot
proteins
pubmed
9480870
uniprot
proteins
sequence_length
415
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome lumen {ECO:0000269|PubMed:11571282, ECO:0000269|PubMed:25153125, ECO:0000269|PubMed:9480870}. Lysosome membrane {ECO:0000269|PubMed:25153125, ECO:0000269|PubMed:27917893, ECO:0000269|PubMed:9480870}; Peripheral membrane protein {ECO:0000305|PubMed:9480870}; Lumenal side {ECO:0000305|PubMed:9480870}. Cell membrane {ECO:0000269|PubMed:11571282, ECO:0000269|PubMed:27917893}; Peripheral membrane protein {ECO:0000305|PubMed:9480870}. Note=Localized not only on the inner side of the lysosomal membrane and in the lysosomal lumen, but also on the plasma membrane and in intracellular vesicles (PubMed:11571282, PubMed:9480870). Was also suggested to have transmembrane topology (PubMed:27917893). {ECO:0000269|PubMed:11571282, ECO:0000269|PubMed:27917893, ECO:0000269|PubMed:9480870}.
uniprot
proteins