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Field

Term
Gene name

Class

Subclass

Chromosome

External id

In atlas

Reliability

Reliability

Reliability

Validation

Method

Validation

Method

Validation

Method

Validation

Location

Searches

Tissue

Cell type

Expression

Tissue

Specificity

Cell line

Specificity

Tissue

Detectable

Cell line

Detectable

Category

Score

Score

Score

Antibodies

Column

 
 
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NPC1
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TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation


Dictionary


Tissue proteome

GENERAL INFORMATION

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
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

Evidence at protein level

Protein expression

General cytoplasmic expression.

DATA RELIABILITY

Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Reliability score

Approved based on 2 antibodies.
HPA026618 , CAB070132
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM) Protein expression (score)
Brain
Cerebral cortex
Hippocampus
N/A
Caudate
N/A
Cerebellum
N/A
Endocrine tissues
Thyroid gland
Parathyroid gland
Adrenal gland
Bone marrow & immune system
Appendix
Bone marrow
Lymph node
Tonsil
Spleen
Muscle tissues
Heart muscle
Skeletal muscle
Smooth muscle
Lung
Nasopharynx
N/A
Bronchus
N/A
Lung
Liver & gallbladder
Liver
Gallbladder
Pancreas
Pancreas
Gastrointestinal tract
Oral mucosa
N/A
Salivary gland
Esophagus
Stomach
Duodenum
Small intestine
Colon
Rectum
Kidney & urinary bladder
Kidney
Urinary bladder
Male tissues
Testis
Epididymis
Prostate
Seminal vesicle
Female tissues
Breast
Vagina
N/A
Cervix, uterine
Endometrium
Fallopian tube
Ovary
Placenta
Adipose & soft tissue
Adipose tissue
Soft tissue
N/A
Skin
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW

Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW

HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

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 83.38)

Entrez gene

4864

UniProt

O15118 (UniProt - Evidence at protein level)

neXtProt

NX_O15118

Antibodypedia

NPC1 antibodies

PROTEIN BROWSER

NPC1-001
NPC1-002
NPC1-003
NPC1-012
NPC1-013
NPC1-014

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NPC1-001
ENSP00000269228
ENST00000269228
O15118 [Direct mapping]
Niemann-Pick C1 protein
Show all
Transporters
   Electrochemical Potential-driven transporters
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001618 [virus receptor activity]
GO:0004872 [receptor activity]
GO:0004888 [transmembrane signaling receptor activity]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005635 [nuclear envelope]
GO:0005764 [lysosome]
GO:0005765 [lysosomal membrane]
GO:0005768 [endosome]
GO:0005783 [endoplasmic reticulum]
GO:0005794 [Golgi apparatus]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006486 [protein glycosylation]
GO:0006897 [endocytosis]
GO:0006914 [autophagy]
GO:0007041 [lysosomal transport]
GO:0007165 [signal transduction]
GO:0007628 [adult walking behavior]
GO:0008158 [hedgehog receptor activity]
GO:0008203 [cholesterol metabolic process]
GO:0008206 [bile acid metabolic process]
GO:0015248 [sterol transporter activity]
GO:0015485 [cholesterol binding]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016242 [negative regulation of macroautophagy]
GO:0030301 [cholesterol transport]
GO:0031579 [membrane raft organization]
GO:0031902 [late endosome membrane]
GO:0031982 [vesicle]
GO:0033344 [cholesterol efflux]
GO:0042493 [response to drug]
GO:0042632 [cholesterol homeostasis]
GO:0045121 [membrane raft]
GO:0046686 [response to cadmium ion]
GO:0046718 [viral entry into host cell]
GO:0048471 [perinuclear region of cytoplasm]
GO:0060548 [negative regulation of cell death]
GO:0070062 [extracellular exosome]
GO:0071383 [cellular response to steroid hormone stimulus]
GO:0071404 [cellular response to low-density lipoprotein particle stimulus]
GO:0090150 [establishment of protein localization to membrane]
GO:2000189 [positive regulation of cholesterol homeostasis]
Show all
1278 aa
142.2 kDa
Yes >9
NPC1-002
ENSP00000468438
ENST00000591107
K7ERW2 [Direct mapping]
Niemann-Pick C1 protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   5TM proteins predicted by MDM
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0007165 [signal transduction]
GO:0008158 [hedgehog receptor activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
Show all
179 aa
19.7 kDa
No 5
NPC1-003
ENSP00000467636
ENST00000591051
K7EQ23 [Direct mapping]
Niemann-Pick C1 protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0007165 [signal transduction]
GO:0008158 [hedgehog receptor activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0030301 [cholesterol transport]
Show all
971 aa
108.1 kDa
No >9
NPC1-012
ENSP00000468321
ENST00000586150
K7ERM4 [Direct mapping]
Niemann-Pick C1 protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   6TM proteins predicted by MDM
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0007165 [signal transduction]
GO:0008158 [hedgehog receptor activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
Show all
175 aa
19.2 kDa
No 6
NPC1-013
ENSP00000467150
ENST00000593280
K7ENZ0 [Direct mapping]
Niemann-Pick C1 protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0016021 [integral component of membrane]
Show all
42 aa
4.6 kDa
No 1
NPC1-014
ENSP00000464755
ENST00000590723
K7EIH7 [Direct mapping]
Niemann-Pick C1 protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0007165 [signal transduction]
GO:0008158 [hedgehog receptor activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
Show all
59 aa
6.5 kDa
No 2

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