NPTX1
entrez
4884
canonical
uniprot
Q15818
canonical
ensembl
ENSG00000171246
resolver
ensp
ENSP00000307549
resolver
enst
ENST00000306773
resolver
genesymbol
NPTX1
resolver
hgnc
HGNC:7952
resolver
uniprot
B3KXH3
resolver
uniprot
Q5FWE6
resolver
uniprot_entry
NPTX1_HUMAN
resolver
uniprot_sec
B3KXH3
resolver
uniprot_sec
Q5FWE6
resolver
amino_acid_sequence
MPAGRAARTCALLALCLLGAGAQDFGPTRFICTSVPVDADMCAASVAAGGAEELRSSVLQLRETVLQQKETILSQKETIRELTAKLGRCESQSTLDPGAGEARAGGGRKQPGSGKNTMGDLSRTPAAETLSQLGQTLQSLKTRLENLEQYSRLNSSSQTNSLKDLLQSKIDELERQVLSRVNTLEEGKGGPRNDTEERVKIETALTSLHQRISELEKGQKDNRPGDKFQLTFPLRTNYMYAKVKKSLPEMYAFTVCMWLKSSATPGVGTPFSYAVPGQANELVLIEWGNNPMEILINDKVAKLPFVINDGKWHHICVTWTTRDGVWEAYQDGTQGGSGENLAPYHPIKPQGVLVLGQEQDTLGGGFDATQAFVGELAHFNIWDRKLTPGEVYNLATCSTKALSGNVIAWAESHIEIYGGATKWTFEACRQIN
uniprot
proteins
disease_involvement
DISEASE: Spinocerebellar ataxia 50 (SCA50) [MIM:620158]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA50 is an autosomal dominant form characterized by cerebellar ataxia, oculomotor apraxia and other eye movement abnormalities, and cerebellar atrophy on brain imaging. {ECO:0000269|PubMed:34788392, ECO:0000269|PubMed:35285082, ECO:0000269|PubMed:35560436}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May be involved in mediating uptake of synaptic material during synapse remodeling or in mediating the synaptic clustering of AMPA glutamate receptors at a subset of excitatory synapses. {ECO:0000250|UniProtKB:P47971}.
uniprot
proteins
mass_dalton
47122
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
34788392
uniprot
proteins
pubmed
35285082
uniprot
proteins
pubmed
35560436
uniprot
proteins
pubmed
8884281
uniprot
proteins
sequence_length
432
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:34788392}. Cytoplasmic vesicle, secretory vesicle {ECO:0000269|PubMed:34788392, ECO:0000305}. Endoplasmic reticulum {ECO:0000269|PubMed:34788392, ECO:0000305}.
uniprot
proteins