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FLASH GENE

Symbol

NPTX1

contributors: mct - updated : 28-03-2022

HGNC name	neuronal pentraxin I
HGNC id	7952

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SCA50 spinocerebellar ataxia 50
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

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002522 5 - 5439 NP_002513 - 432 - 2018 29501530

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine adrenal gland       highly Nervous brain       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

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)

SCA50

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed cancer digestive colon NPTX1 suppress the colon cancer cell growth and might serve as a useful potential target for treatment of colon cancer

ANIMAL & CELL MODELS