Niemann-Pick disease, type C1

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Synonym

Niemann-Pick C1 protein precursor, NPC1, NPC, Niemann-Pick disease, type C1

normal 40 tissues
cell lines, primary cells, adult tissues and fetal tissues (FANTOM5 CAGE)

Choropleth map on BodyParts3D

Choropleth maps on 3D human body images were generated by the relative gene expression values measured by GeneChip.

Classification in 40 Organs

brain

blood

connective

EST

nodata

GeneChip

cerebrum:7.43

cerebellum:6.08

brain stem:7.78

corpus callosum/glia:8.94

pineal gland:-

peripheral nerve:7.13

spine:8.18

retina:-

eye:-

artery/aorta:6.31

vein:6.48

lymphnode:6.79

peripheral blood:-

spleen:6.74

thymus:6.30

bone marrow:5.83

adipose:6.41

bone:-

skin:6.74

CAGE

cerebrum:4.37

cerebellum:-

brain stem:5.08

corpus callosum/glia:5.68

pineal gland:3.48

peripheral nerve:-

spine:4.89

retina:-

eye:-

artery/aorta:4.00

vein:3.56

lymphnode:3.82

peripheral blood:-

spleen:3.67

thymus:3.37

bone marrow:-

adipose:4.16

bone:-

skin:-

RNA-seq

cerebrum:4.29

cerebellum:-

brain stem:-

corpus callosum/glia:-

pineal gland:-

peripheral nerve:-

spine:-

retina:-

eye:-

artery/aorta:-

vein:-

lymphnode:3.56

peripheral blood:-

spleen:-

thymus:-

bone marrow:-

adipose:3.06

bone:-

skin:-

reproductive

muscular

alimentary

liver

lung

urinary

endo/exo-crine

EST

nodata

GeneChip

uterus:6.50

placenta:7.78

prostate:6.37

ovary:6.43

testis:6.79

heart:5.98

muscle:5.55

esophagus:6.99

stomach:6.44

intestine:5.97

colon:5.87

liver/hepato:5.87

lung:7.28

bladder:-

kidney:5.80

pituitary:6.17

thyroid/parathyroid:5.59

adrenal gland:8.79

pancreas:5.32

breast:6.77

salivary:7.85

CAGE

uterus:3.68

placenta:4.25

prostate:3.36

ovary:3.71

testis:3.74

heart:3.38

muscle:3.30

esophagus:3.80

stomach:-

intestine:3.71

colon:3.50

liver/hepato:3.18

lung:4.23

bladder:3.92

kidney:3.62

pituitary:3.77

thyroid/parathyroid:3.09

adrenal gland:-

pancreas:2.94

breast:4.39

salivary:4.71

RNA-seq

uterus:-

placenta:-

prostate:2.91

ovary:3.16

testis:3.27

heart:1.93

muscle:2.66

esophagus:-

stomach:-

intestine:-

colon:3.14

liver/hepato:2.00

lung:4.20

bladder:-

kidney:3.04

pituitary:-

thyroid/parathyroid:2.83

adrenal gland:2.91

pancreas:-

breast:2.68

salivary:-

IDs

Refseq ID	NM_000271
Gene ID	4864
Unigene ID	-
Probe set ID	202679_at [HG-U133_Plus_2]
Ensembl ID	ENSG00000141458
GTEx ID	ENSG00000141458

Orthologous Gene

Mouse[1]	NM_008720
Rat [0]

Chromosomal Region

18q11.2 [21,111,401 - 21,166,451]

Search genes near this gene
- Between -5kb and +5kb
- Between -10kb and +10kb

Gene Family (Interpro ID)

IPR004765	Niemann-Pick C type protein
IPR003392	Patched

Gene Ontology (GO ID)

Biological Process

GO:0007628	adult walking behavior
GO:0006914	autophagy
GO:0008206	bile acid metabolic process
GO:0071404	cellular response to low-density lipoprotein stimulus
GO:0071383	cellular response to steroid hormone stimulus
GO:0033344	cholesterol efflux
GO:0042632	cholesterol homeostasis
GO:0008203	cholesterol metabolic process
GO:0030301	cholesterol transport
GO:0006897	endocytosis
GO:0007041	lysosomal transport
GO:0016242	negative regulation of macroautophagy
GO:0006486	protein amino acid glycosylation
GO:0042493	response to drug

Cellular Component

GO:0005783	endoplasmic reticulum
GO:0005576	extracellular region
GO:0005794	Golgi apparatus
GO:0016021	integral to membrane
GO:0005887	integral to plasma membrane
GO:0031902	late endosome membrane
GO:0005765	lysosomal membrane
GO:0005764	lysosome
GO:0045121	membrane raft
GO:0005635	nuclear envelope
GO:0048471	perinuclear region of cytoplasm
GO:0031982	vesicle

Molecular Function

GO:0015485	cholesterol binding
GO:0008158	hedgehog receptor activity
GO:0005515	protein binding
GO:0004872	receptor activity
GO:0015248	sterol transporter activity
GO:0004888	transmembrane receptor activity

Niemann-Pick disease, type C1

Synonym

Expression Pattern

Choropleth map on BodyParts3D

Classification in 40 Organs

Gene Information

IDs

Orthologous Gene

Chromosomal Region

Gene Family (Interpro ID)

Link to Pubmed (Pubmed ID)

Gene Ontology (GO ID)

Biological Process

Cellular Component

Molecular Function