NPC1 (NPC intracellular cholesterol transporter 1)

2014-08-01  

Identity

HGNC
NPC1
LOCATION
18q11.2
LOCUSID
4864
ALIAS
NPC,POGZ,SLC65A1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4864
MIM: 607623
HGNC: 7897
Ensembl: ENSG00000141458

Variants:

dbSNP: 4864
ClinVar: 4864
TCGA: ENSG00000141458
COSMIC: NPC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141458ENST00000269228O15118
ENSG00000141458ENST00000586150K7ERM4
ENSG00000141458ENST00000590723K7EIH7
ENSG00000141458ENST00000591051K7EQ23
ENSG00000141458ENST00000591107K7ERW2
ENSG00000141458ENST00000593280K7ENZ0

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
LysosomeKEGGko04142
LysosomeKEGGhsa04142
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
LDL-mediated lipid transportREACTOMER-HSA-171052

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
379895692024Familial Alzheimer's disease associated with heterozygous NPC1 mutation.0
380422112024NPC1 promotes autophagy with tumor promotion and acts as a prognostic model for hepatocellular carcinoma.0
379895692024Familial Alzheimer's disease associated with heterozygous NPC1 mutation.0
380422112024NPC1 promotes autophagy with tumor promotion and acts as a prognostic model for hepatocellular carcinoma.0
355873342023CRISPR-Cas9-Mediated NPC1 Gene Deletion Enhances HEK 293 T Cell Adhesion by Regulating E-Cadherin.0
367483412023Purification and structure of luminal domain C of human Niemann-Pick C1 protein.1
370322422023NPC1 variants are not associated with Parkinson's disease, REM-sleep behavior disorder or dementia with Lewy bodies in European cohorts.1
373710892023A Novel Small NPC1 Promoter Enhances AAV-Mediated Gene Therapy in Mouse Models of Niemann-Pick Type C1 Disease.1
374233022023NPC1 plays a role in the trafficking of specific cargo to melanosomes.0
375073752023NPC1-dependent alterations in K(V)2.1-Ca(V)1.2 nanodomains drive neuronal death in models of Niemann-Pick Type C disease.3
355873342023CRISPR-Cas9-Mediated NPC1 Gene Deletion Enhances HEK 293 T Cell Adhesion by Regulating E-Cadherin.0
367483412023Purification and structure of luminal domain C of human Niemann-Pick C1 protein.1
370322422023NPC1 variants are not associated with Parkinson's disease, REM-sleep behavior disorder or dementia with Lewy bodies in European cohorts.1
373710892023A Novel Small NPC1 Promoter Enhances AAV-Mediated Gene Therapy in Mouse Models of Niemann-Pick Type C1 Disease.1
374233022023NPC1 plays a role in the trafficking of specific cargo to melanosomes.0

Citation

Dessen P

NPC1 (NPC intracellular cholesterol transporter 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54509/npc1-(npc-intracellular-cholesterol-transporter-1)