NPTX1 (neuronal pentraxin 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 4884 |
| Gene name | Neuronal pentraxin 1 |
| Gene symbol | NPTX1 |
| Synonyms (NCBI Gene) |
NP1SCA50
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| 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 |
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miRNA
miRNA information provided by mirtarbase database.
513
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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
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| Sequence |
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| Sequence length | 432 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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