protein

NPC1

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about NPC1: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.

240Connections

0Hypotheses

0Analyses

50Outgoing

50Incoming

No summary available yet. View on Wiki →

🔬 Protein Info

Gene Symbol	NPC1
Chromosome	18q11.2
Protein Type	Transporter
Function	It functions as a key transporter in the late endosomal/lysosomal (LE/LY) system[4]
Subcellular Localization	the limiting membrane of late endosomes and lysosomes. It functions as a key transporter in the **late endosomal/lysosom
Pathways	Wnt signaling pathway
GeneCards	NPC1
Human Protein Atlas	NPC1
Inheritance	Autosomal recessive
Onset	Variable (infantile, juvenile, adult)
Neurological	Ataxia, dystonia, seizures, vertical supranuclear gaze palsy
Systemic	Hepatosplenomegaly, cholestatic jaundice
Cognitive	Progressive dementia, learning disabilities
Death	Usually in second or third decade
Variant	Effect
Associated Diseases	Als, Ms, Neurodegeneration, Niemann-Pick Type C1 Disease, Niemann-Pick disease type C1, Niemann_Pick_disease
Interactions	STING1, STING, CD63, CGAS, VAPB, GBA
KG Connections	240 knowledge graph edges
Databases	GeneCards UniProt NCBI Gene HPA STRING

Wiki Pages (21)

Knowledge base pages for this entity

Canonical Page

Pathway Diagram

graph TD
    NPC1["NPC1"] -->|"regulates"| Cholesterol["Cholesterol"]
    NPC1["NPC1"] -->|"regulates"| MTOR["MTOR"]
    NPC1["NPC1"] -->|"involved in"| Cholesterol_Transport["Cholesterol Transport"]
    NPC1["NPC1"] -->|"causes"| Niemann_Pick_disease["Niemann_Pick_disease"]
    NPC1["NPC1"] -->|"activates"| Cancer["Cancer"]
    NPC1["NPC1"] -->|"activates"| Aging["Aging"]
    SLC38A9["SLC38A9"] -->|"interacts"| NPC1["NPC1"]
    CGAS["CGAS"] -->|"interacts"| NPC1["NPC1"]
    STING["STING"] -->|"interacts"| NPC1["NPC1"]
    SREBP2["SREBP2"] -->|"associated"| NPC1["NPC1"]
    style NPC1 fill:#006494,stroke:#4fc3f7,stroke-width:2px,color:#e0e0e0

Outgoing (160)

Target	Relation	Type	Str
Cholesterol Accumulation	regulates	process	0.95
Niemann-Pick Type C1 Disease	associated_with	disease	0.95
cholesterol accumulation	promotes	phenotype	0.95
Niemann-Pick disease type C1	causes	disease	0.95
MTOR	activates	protein	0.92
Wnt signaling pathway	regulates	pathway	0.90
cell proliferation	inhibits	process	0.90
cell apoptosis	promotes	process	0.90
E-cadherin	modulates	protein	0.90
SLC38A9	binds	protein	0.90
cholesterol transport	regulates	process	0.90
Cholesterol Transport	mediates	process	0.90
MTOR	inhibits	protein	0.88
lysosomal cholesterol export	regulates	process	0.87
MTOR	regulates	protein	0.85
Cholesterol Transport	involved_in	process	0.85
MYC	upstream_of	gene	0.85
Alpha-Synuclein-Induced Retinal Degeneration	modulates	phenotype	0.85
SREBP2	interacts_with	protein	0.85
Neurodegeneration	contributes_to	disease	0.80
Niemann_Pick_disease	causes	disease	0.72
TFEB	activates	gene	0.70
cholesterol accumulation	causes	process	0.70
late endosome/lysosome	regulates	cell_type	0.70
Retinal Degeneration	activates	disease	0.65
Cancer	activates	disease	0.65
Aging	activates	disease	0.65
Cardiovascular	activates	disease	0.65
Autoimmune	interacts_with	disease	0.65
Als	inhibits	disease	0.65
Autoimmune	activates	disease	0.65
Als	associated_with	disease	0.65
Ms	associated_with	disease	0.65
Parkinson	inhibits	disease	0.65
Ms	inhibits	disease	0.65
ALS	inhibits	disease	0.65
Infection	interacts_with	disease	0.65
Neurodegeneration	therapeutic_target	disease	0.65
Inflammation	therapeutic_target	disease	0.65
Als	regulates	disease	0.65
Neurodegeneration	causes	disease	0.65
Neurodegeneration	activates	disease	0.65
Als	activates	disease	0.65
Parkinson	activates	disease	0.65
ALS	regulates	disease	0.65
Lewy Body	activates	disease	0.65
ALS	activates	disease	0.65
Parkinson	regulates	disease	0.65
STING1	interacts_with	gene	0.64
STING1	regulates	gene	0.64

Incoming (80)

Source	Relation	Type	Str
SLC38A9	interacts_with	protein	0.90
CGAS	interacts_with	gene	0.60
STING	interacts_with	gene	0.60
CGAS	activates	gene	0.60
SCARB2	associated_with	gene	0.60
UBE2D1	associated_with	gene	0.60
LGALS1	associated_with	gene	0.60
CALCOCO2	associated_with	gene	0.60
CDKN1A	associated_with	gene	0.60
LRRK2	inhibits	gene	0.60
RAB8A	inhibits	gene	0.60
CGAS	expressed_in	gene	0.60
HEXB	expressed_in	gene	0.60
GBA	expressed_in	gene	0.60
GLA	expressed_in	gene	0.60
CYP46A1	expressed_in	gene	0.60
SCARB2	activates	gene	0.60
LIPA	activates	gene	0.60
SLC17A5	activates	gene	0.60
GNPTAB	activates	gene	0.60
SMPD1	activates	gene	0.60
OVERVIEW	therapeutic_target	gene	0.60
NPC2	causes	gene	0.60
SMPD1	causes	gene	0.60
CTSD	activates	gene	0.60
GBA	activates	gene	0.60
MTOR	associated_with	gene	0.60
TREM2	associated_with	gene	0.60
RAB8A	regulates	gene	0.60
LRRK2	regulates	gene	0.60
JAK2	protects_against	gene	0.60
ABCA1	inhibits	gene	0.60
GBA1	inhibits	gene	0.60
GBA1	associated_with	gene	0.60
APOE4	activates	gene	0.60
HMGCR	expressed_in	gene	0.60
CNBP	associated_with	gene	0.60
DMPK	associated_with	gene	0.60
MTOR	activates	gene	0.60
LDLR	interacts_with	gene	0.60
SREBP2	associated_with	gene	0.60
DNA	interacts_with	gene	0.60
EXOSOMES	interacts_with	gene	0.60
ENDOSOMES	interacts_with	gene	0.60
IMMUNE INFILTRATION	associated_with	gene	0.60
AUTOPHAGY	associated_with	gene	0.60
PARKINSON'S DISEASE	inhibits	gene	0.60
LYSOSOME	inhibits	gene	0.60
LYSOSOME	interacts_with	gene	0.60
AND	activates	gene	0.60

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
No targeting hypotheses

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention this entity

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

NPC1

Understanding Entity Pages

Wiki Pages (21)

npc1

Niemann-Pick Disease Type C (NPC)

Lysosomal Dysfunction in Neurodegeneration

PTCH2 Gene

niemann-pick-disease

ATP13A2 — ATPase Cation Transporting 13A2

autophagy-lysosome-dysfunction

Lipid Raft Dysfunction in Neurodegeneration

Lysosomal Storage Disorders

Parkinson's Disease Metabolism

RABEP1

tfeb-activators-neurodegeneration

Blood-Brain Barrier Penetration Technologies Investment Landscape

MLCS Quantification in Parkinson's Disease

Lipid Dysregulation in Neurodegeneration

Endosomal-Lysosomal Pathway in Neurodegeneration

Niemann-Pick Disease Treatment

Lysosomal Enzyme Dysfunction Across Neurodegenerative Diseases

WIPI1 Gene