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FLASH GENE
Symbol NPTX1 contributors: mct - updated : 28-03-2022
HGNC name neuronal pentraxin I
HGNC id 7952
Corresponding disease
SCA49 spinocerebellar ataxia 49
Location 17q25.3      Physical location : 78.440.632 - 78.450.404
Synonym symbol(s) MGC105123, NP1, DKFZp686J2446
DNA
TYPE functioning gene
STRUCTURE 9.77 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 - 5439 - 432 - 2018 29501530
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineadrenal gland   highly
Nervousbrain   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervouscentral   
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
intraspecies homolog to rat Np1
Homologene
FAMILY neuronal pentraxin gene family
CATEGORY signaling neurotransmitter
SUBCELLULAR LOCALIZATION extracellular
    plasma membrane
    intracellular
intracellular,cytoplasm,organelle,mitochondria
basic FUNCTION
  • mediating the uptake of synaptic material and presynaptic toxins
  • NPTX1 hypermethylation and consequent mRNA changes might be an important molecular mechanism in lung cancer
  • NPTX1 plays a crucial role in promoting metastasis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NPTX1 acts in neural induction from human pluripotent stem cells (hPSCs) in part by binding the NODAL receptor cofactor TDGF1, reducing both NODAL and BMP signaling
  • C1QL3 mediates a novel cell-cell adhesion complex involving ADGRB3 and two neuronal pentraxins, NPTX1 and NPTXR
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCA49
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in colon cancer
    constitutional       gain of function
    is rapidly upregulated during neural induction from human pluripotent stem cells (hPSCs)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • acts as a prognostic indicator in gastric cancer
  • potential diagnostic and prognostic biomarker in lung cancer (PMID;
  • Therapy target
    SystemTypeDisorderPubmed
    cancerdigestivecolon
    NPTX1 suppress the colon cancer cell growth and might serve as a useful potential target for treatment of colon cancer
    ANIMAL & CELL MODELS