Identity
HGNC
LOCATION
18q11.2
LOCUSID
ALIAS
NPC,POGZ,SLC65A1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4864
MIM: 607623
HGNC: 7897
Ensembl: ENSG00000141458
Variants:
dbSNP: 4864
ClinVar: 4864
TCGA: ENSG00000141458
COSMIC: NPC1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37989569 | 2024 | Familial Alzheimer's disease associated with heterozygous NPC1 mutation. | 0 |
| 38042211 | 2024 | NPC1 promotes autophagy with tumor promotion and acts as a prognostic model for hepatocellular carcinoma. | 0 |
| 37989569 | 2024 | Familial Alzheimer's disease associated with heterozygous NPC1 mutation. | 0 |
| 38042211 | 2024 | NPC1 promotes autophagy with tumor promotion and acts as a prognostic model for hepatocellular carcinoma. | 0 |
| 35587334 | 2023 | CRISPR-Cas9-Mediated NPC1 Gene Deletion Enhances HEK 293 T Cell Adhesion by Regulating E-Cadherin. | 0 |
| 36748341 | 2023 | Purification and structure of luminal domain C of human Niemann-Pick C1 protein. | 1 |
| 37032242 | 2023 | NPC1 variants are not associated with Parkinson's disease, REM-sleep behavior disorder or dementia with Lewy bodies in European cohorts. | 1 |
| 37371089 | 2023 | A Novel Small NPC1 Promoter Enhances AAV-Mediated Gene Therapy in Mouse Models of Niemann-Pick Type C1 Disease. | 1 |
| 37423302 | 2023 | NPC1 plays a role in the trafficking of specific cargo to melanosomes. | 0 |
| 37507375 | 2023 | NPC1-dependent alterations in K(V)2.1-Ca(V)1.2 nanodomains drive neuronal death in models of Niemann-Pick Type C disease. | 3 |
| 35587334 | 2023 | CRISPR-Cas9-Mediated NPC1 Gene Deletion Enhances HEK 293 T Cell Adhesion by Regulating E-Cadherin. | 0 |
| 36748341 | 2023 | Purification and structure of luminal domain C of human Niemann-Pick C1 protein. | 1 |
| 37032242 | 2023 | NPC1 variants are not associated with Parkinson's disease, REM-sleep behavior disorder or dementia with Lewy bodies in European cohorts. | 1 |
| 37371089 | 2023 | A Novel Small NPC1 Promoter Enhances AAV-Mediated Gene Therapy in Mouse Models of Niemann-Pick Type C1 Disease. | 1 |
| 37423302 | 2023 | NPC1 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)
