NPTX1
Neuronal pentraxin-1
Also known as: NPTX1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q15818
- Gene
- NPTX1
- Ensembl
- ENSG00000171246
- Chromosome
- 17
- Canonical length
- 432 aa
- Protein class
- Predicted intracellular proteins, Predicted secreted proteins, Transporters
- Subcellular location
- Golgi apparatus,Vesicles
- Secretome location
- Secreted in brain
- Quaternary structure
- Homooligomer
OverviewNCBI Gene
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 RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
432 residues, UniProt reviewed canonical sequence.
>Q15818|NPTX1
1 MPAGRAARTC ALLALCLLGA GAQDFGPTRF ICTSVPVDAD MCAASVAAGG AEELRSSVLQ
61 LRETVLQQKE TILSQKETIR ELTAKLGRCE SQSTLDPGAG EARAGGGRKQ PGSGKNTMGD
121 LSRTPAAETL SQLGQTLQSL KTRLENLEQY SRLNSSSQTN SLKDLLQSKI DELERQVLSR
181 VNTLEEGKGG PRNDTEERVK IETALTSLHQ RISELEKGQK DNRPGDKFQL TFPLRTNYMY
241 AKVKKSLPEM YAFTVCMWLK SSATPGVGTP FSYAVPGQAN ELVLIEWGNN PMEILINDKV
301 AKLPFVINDG KWHHICVTWT TRDGVWEAYQ DGTQGGSGEN LAPYHPIKPQ GVLVLGQEQD
361 TLGGGFDATQ AFVGELAHFN IWDRKLTPGE VYNLATCSTK ALSGNVIAWA ESHIEIYGGA
421 TKWTFEACRQ INLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NPTX1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.4
- Highest tissue expression
- 188 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 188 nTPM
- cerebral cortex: 74 nTPM
- hippocampal formation: 43 nTPM
- amygdala: 40 nTPM
- colon: 32 nTPM
- basal ganglia: 13 nTPM
Single-cell type
- cone photoreceptor cells: 108 nCPM
- late spermatids: 103 nCPM
- brain excitatory neurons: 102 nCPM
- somatotrophs: 34 nCPM
- retinal amacrine cells: 32 nCPM
- brain inhibitory neurons: 15 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- white matter: 275 nTPM
- hippocampal formation: 274 nTPM
- cerebral cortex: 273 nTPM
- amygdala: 248 nTPM
- cerebellum: 233 nTPM
- basal ganglia: 178 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about NPTX1.
Disease | AllUniProt
Conditions NPTX1 is implicated in, by any mechanism.
- Spinocerebellar ataxia 50 (SCA50) MIM:620158
Disease | GeneticClinVar
6 pathogenic / likely-pathogenic of 68 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Spinocerebellar ataxia 50
- Inborn genetic diseases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.48
- gnomAD pLI
- 0.63
- gnomAD missense Z
- 1.87
- DepMap mean gene effect
- -0.05
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- axonogenesis involved in innervation
- cellular response to glucose stimulus
- cellular response to potassium ion
- central nervous system development
- chemical synaptic transmission
- mitochondrial fragmentation involved in apoptotic process
- mitochondrial transport
- neurotransmitter receptor localization to postsynaptic specialization membrane
- postsynaptic density assembly
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NPTX1 as an antibody target. Whether an autoantibody or antibody against NPTX1 could matter depends on whether native NPTX1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NPTX1 is annotated as secreted, so native NPTX1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label NPTX1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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