NPTN
Neuroplastin
Also known as: GP55, GP65, np55, np65, NPTN_HUMAN, SDFR1, SDR1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y639
- Gene
- NPTN
- Ensembl
- ENSG00000156642
- Chromosome
- 15
- Canonical length
- 398 aa
- Protein class
- Predicted intracellular proteins, Predicted membrane proteins, Transporters
- Subcellular location
- Plasma membrane
OverviewNCBI Gene
This gene encodes a type I transmembrane protein belonging to the Ig superfamily. The protein is believed to be involved in cell-cell interactions or cell-substrate interactions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2009]
Canonical amino-acid sequenceUniProt
398 residues, UniProt reviewed canonical sequence.
>Q9Y639|NPTN
1 MSGSSLPSAL ALSLLLVSGS LLPGPGAAQN AGFVKSPMSE TKLTGDAFEL YCDVVGSPTP
61 EIQWWYAEVN RAESFRQLWD GARKRRVTVN TAYGSNGVSV LRITRLTLED SGTYECRASN
121 DPKRNDLRQN PSITWIRAQA TISVLQKPRI VTSEEVIIRD SPVLPVTLQC NLTSSSHTLT
181 YSYWTKNGVE LSATRKNASN MEYRINKPRA EDSGEYHCVY HFVSAPKANA TIEVKAAPDI
241 TGHKRSENKN EGQDATMYCK SVGYPHPDWI WRKKENGMPM DIVNTSGRFF IINKENYTEL
301 NIVNLQITED PGEYECNATN AIGSASVVTV LRVRSHLAPL WPFLGILAEI IILVVIIVVY
361 EKRKRPDEVP DDDEPAGPMK TNSTNNHKDK NLRQRNTNLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NPTN 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
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.38
- Highest tissue expression
- 279 nTPM
Expression across tissuesHPA
Tissue
- smooth muscle: 279 nTPM
- cerebral cortex: 211 nTPM
- seminal vesicle: 192 nTPM
- blood vessel: 192 nTPM
- heart muscle: 184 nTPM
- choroid plexus: 169 nTPM
Single-cell type
- neutrophil progenitors: 443 nCPM
- neutrophils: 438 nCPM
- retinal bipolar cells: 342 nCPM
- brain inhibitory neurons: 307 nCPM
- platelets: 278 nCPM
- brain excitatory neurons: 248 nCPM
Immune cell
- neutrophil: 28 nTPM
- intermediate monocyte: 19 nTPM
- non-classical monocyte: 15 nTPM
- eosinophil: 14 nTPM
- classical monocyte: 14 nTPM
- total PBMC: 14 nTPM
Brain region
- cerebral cortex: 434 nTPM
- basal ganglia: 300 nTPM
- hippocampal formation: 297 nTPM
- white matter: 274 nTPM
- amygdala: 262 nTPM
- choroid plexus: 254 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about NPTN.
Disease | GeneticClinVar
7 pathogenic / likely-pathogenic of 48 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- NPTN-related neurodevelopmental disorder
- NPTN-associated neurodevelopmental disorder
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)
- 0.25
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 2.68
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- axon guidance
- dendrite self-avoidance
- excitatory synapse assembly
- homophilic cell adhesion via plasma membrane adhesion molecules
- intracellular calcium ion homeostasis
- long-term synaptic potentiation
- negative regulation of cytokine production
- positive regulation of cytosolic calcium ion concentration
- positive regulation of fibroblast growth factor receptor signaling pathway
- positive regulation of long-term neuronal synaptic plasticity
- positive regulation of neuron projection development
- positive regulation of protein phosphorylation
- regulation of receptor localization to synapse
Molecular functions
- cell adhesion molecule binding
- cell-cell adhesion mediator activity
- type 1 fibroblast growth factor receptor binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NPTN in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NPTN as an antibody target. Whether an autoantibody or antibody against NPTN could matter depends on whether native NPTN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NPTN is annotated at the cell surface, where native NPTN is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label NPTN as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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