NPC1

GENERAL INFORMATION

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Gene name

NPC1

Gene description

Niemann-Pick disease, type C1

Protein class

Disease related genes
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

Membrane

Number of transcripts

6
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 2 antibodies.
HPA026618 , CAB070132
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

NPC1

Synonyms

Description

Niemann-Pick disease, type C1 (HGNC Symbol)

Entrez gene summary

This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]

Chromosome

18

Cytoband

q11.2

Chromosome location (bp)

23506184 - 23586898

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000141458 (version 78.38)

Entrez gene

4864

UniProt

O15118 (UniProt - Evidence at protein level)

neXtProt

NX_O15118

Antibodypedia

NPC1 antibodies


PROTEIN BROWSER

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ENST00000269228
 
ENST00000586150
 
ENST00000590723
 
ENST00000591051
 
ENST00000591107
 
ENST00000593280
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NPC1-001 ENSP00000269228
ENST00000269228
O15118
Show all »
Show » Show » 1278 142.2 Yes >9
NPC1-002 ENSP00000468438
ENST00000591107
Show » Show » 179 19.7 No 5
NPC1-003 ENSP00000467636
ENST00000591051
Show » Show » 971 108.1 No >9
NPC1-012 ENSP00000468321
ENST00000586150
Show » Show » 175 19.2 No 6
NPC1-013 ENSP00000467150
ENST00000593280
Show » 42 4.6 No 1
NPC1-014 ENSP00000464755
ENST00000590723
K7EIH7
Show all »
Show » Show » 59 6.5 No 2