Gene Gene information from NCBI Gene database.
Entrez ID 4884
Gene name Neuronal pentraxin 1
Gene symbol NPTX1
Synonyms (NCBI Gene)
NP1SCA50
Chromosome 17
Chromosome location 17q25.3
Summary NPTX1 is a member of the neuronal pentraxin gene family. Neuronal pentraxin 1 is similar to the rat NP1 gene which encodes a binding protein for the snake venom toxin taipoxin. Human NPTX1 mRNA is exclusively localized to the nervous system. [provided by
miRNA miRNA information provided by mirtarbase database.
513
miRTarBase ID miRNA Experiments Reference
MIRT001930 hsa-miR-210-3p Luciferase reporter assay 18539147
MIRT001930 hsa-miR-210-3p immunoprecipitaionqRT-PCR 19826008
MIRT052609 hsa-let-7a-5p CLASH 23622248
MIRT051875 hsa-let-7c-5p CLASH 23622248
MIRT047746 hsa-miR-10a-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IEA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0006839 Process Mitochondrial transport IEA
GO:0007268 Process Chemical synaptic transmission TAS 8884281
GO:0007417 Process Central nervous system development TAS 8884281
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602367 7952 ENSG00000171246
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15818
Protein name Neuronal pentraxin-1 (NP1) (Neuronal pentraxin I) (NP-I)
Protein 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.
PDB 6YPE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00354 Pentaxin 228 422 Pentaxin family Domain
Sequence
MPAGRAARTCALLALCLLGAGAQDFGPTRFICTSVPVDADMCAASVAAGGAEELRSSVLQ
LRETVLQQKETILSQKETIRELTAKLGRCESQSTLDPGAGEARAGGGRKQPGSGKNTMGD
LSRTPAAETLSQLGQTLQSLKTRLENLEQYSRLNSSSQTNSLKDLLQSKIDELERQVLSR
VNTLEEGKGGPRNDTEERVKIETALTSLHQRISELEKGQKDNRPGDKFQLTFPLRTNYMY
AKVKKSLPEMYAFTVCMWLKSSATPGVGTPFSYAVPGQANELVLIEWGNNPMEILINDKV
AKLPFVINDGKWHHICVTWTTRDGVWEAYQDGTQGGSGENLAPYHPIKPQGVLVLGQEQD
TLGGGFDATQAFVGELAHFNIWDRKLTPGEVYNLATCSTKALSGNVIAWAESHIEIYGGA
TK
WTFEACRQIN
Sequence length 432
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Spinocerebellar ataxia 50 Likely pathogenic; Pathogenic rs1466750124, rs2509777500, rs2509780141, rs2509777083, rs2509779738 RCV002471119
RCV002470670
RCV002470671
RCV002470672
RCV004536830
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATAXIA, SPINOCEREBELLAR Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT CEREBELLAR ATAXIA ClinGen, Disgenet, GWAS catalog
ClinGen, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MOYAMOYA DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyloidosis Amyloidosis BEFREE 17151277
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 25053281
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma of lung Lung carcinoma BEFREE 25646694
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 19843677
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 19843677
★☆☆☆☆
Found in Text Mining only
Chordoma Chordoma Pubtator 38012562 Associate
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 29345391
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 21636702
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 21636702 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 1 Diabetes mellitus, type 1 Pubtator 36839302 Inhibit
★☆☆☆☆
Found in Text Mining only