NPC1 (Q14914279)

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protein-coding gene in the species Homo sapiens

NPC
NPC intracellular cholesterol transporter 1
SLC65A1
POGZ

Language	Label	Description	Also known as
English	NPC1	protein-coding gene in the species Homo sapiens	NPC NPC intracellular cholesterol transporter 1 SLC65A1 POGZ

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000141458

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000141458

Protein NPC1 PDB 3GKH.png
1,200 × 1,000; 284 KB

0 references

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000141458

NPC intracellular cholesterol transporter 1

1 reference

6 July 2017

UniProt protein ID

Niemann-Pick C1 protein

1 reference

UniProt protein ID

30 June 2016

language of work or name

genetic association

determination method or standard

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_9970&ncbiId=4864

http://www.genome.gov/gwastudies/index.cfm?gene=NPC1

Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations

25 May 2020

Niemann-Pick disease, type C1

2 references

UniProt protein ID

13 August 2019

7 March 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e8459873-2577-43ff-966c-e5180683d4f4-2022-03-01T170000.000Z

Niemann–Pick disease, type C

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000141458/MONDO_0018982

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 18

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000141458

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000141458

23506184

human chromosome 18

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000141458

21086148

human chromosome 18

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000141458

21166862

human chromosome 18

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000141458

23586506

human chromosome 18

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000141458

cytogenetic location

18q11.2

1 reference

15 May 2022

228

1 reference

15 May 2022

Gene Atlas image

PBB GE NPC1 202679 at fs.png
732 × 530; 11 KB

0 references

2 references

HomoloGene build68

228

Orthologous MAtrix

https://omabrowser.org/oma/vps/O15118/

Saccharomyces cerevisiae S288c

1 reference

HomoloGene build68

228

1 reference

HomoloGene build68

228

Drosophila melanogaster

1 reference

HomoloGene build68

228

1 reference

HomoloGene build68

228

secondary oocyte

1

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000141458

middle frontal gyrus

2

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000141458

corpus callosum

3

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000141458

4

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000141458

cartilage tissue

5

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000141458

right adrenal cortex

6

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000141458

left adrenal cortex

7

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000141458

inferior ganglion of vagus nerve

8

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000141458

9

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000141458

internal globus pallidus

10

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000141458

http://identifiers.org/ncbigene/4864

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Commons category

NPC1

0 references

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

10 April 2022

1 reference

15 May 2022

Ensembl gene ID

ENSG00000141458

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000141458

Ensembl transcript ID

ENST00000593280

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000141458

ENST00000269228

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000141458

ENST00000540608

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000141458

ENST00000586150

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000141458

ENST00000586718

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000141458

ENST00000587163

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000141458

ENST00000587223

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000141458

ENST00000588867

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000141458

ENST00000590301

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000141458

ENST00000590723

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000141458

ENST00000591051

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000141458

ENST00000591075

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000141458

ENST00000591107

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000141458

ENST00000591955

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000141458

HGNC gene symbol

1 reference

15 May 2022

1 reference

15 May 2022

Microsoft Academic ID

0 references

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

26 January 2022

https://docs.openalex.org/download-snapshot/snapshot-data-format

1 reference

based on heuristic

inferred by common HGNC mappings on source and on Wikidata

15 June 2023

Sitelinks

Wikipedia(9 entries)

bswiki NPC1
cawiki NPC1
cywiki NPC1
enwiki NPC1
eswiki NPC1
fawiki NPC1
frwiki NPC1
ttwiki NPC1
ukwiki NPC1

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(1 entry)

commonswiki Category:NPC1

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