NPC1 &#160; ingelesa (Q14914279)

ensembl Release 106 ^ingelesa

proteinak kodetzen dituen genea

honen azpiklasea

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Ensembl Release 87 ^ingelesa

irudia

Protein NPC1 PDB 3GKH.png
1.200 × 1.000; 284 KB

0 erreferentzia

Homo sapiens

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ensembl Release 106 ^ingelesa

kodetzen du

NPC intracellular cholesterol transporter 1 ^ingelesa

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UniProt ^ingelesa

6 uztaila 2017

UniProt protein ID ^ingelesa

O15118

Niemann-Pick C1 protein ^ingelesa

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UniProt ^ingelesa

UniProt protein ID ^ingelesa

K7EQ23

lanaren edo izenaren hizkuntza

30 ekaina 2016

ingeles

genetic association ^ingelesa

gizeneri

zehazteko metodoa

genome-wide association study ^ingelesa

TAS ^ingelesa

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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 ^ingelesa

Phenocarta ^ingelesa

25 maiatza 2020

Niemann-Pick disease, type C1 ^ingelesa

2 erreferentzia

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

UniProt ^ingelesa

UniProt protein ID ^ingelesa

13 abuztua 2019

ClinGen ^ingelesa

7 martxoa 2022

Niemann–Pick disease, type C ^ingelesa

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Open Targets Platform ^ingelesa

24 abuztua 2023

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

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

human chromosome 18 ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

Genome assembly GRCh37 ^ingelesa

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ensembl Release 106 ^ingelesa

strand orientation ^ingelesa

reverse strand ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

Genome assembly GRCh37 ^ingelesa

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ensembl Release 106 ^ingelesa

genomic start ^ingelesa

23506184

human chromosome 18 ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

21086148

human chromosome 18 ^ingelesa

genomic assembly ^ingelesa

Genome assembly GRCh37 ^ingelesa

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ensembl Release 106 ^ingelesa

genomic end ^ingelesa

21166862

human chromosome 18 ^ingelesa

genomic assembly ^ingelesa

Genome assembly GRCh37 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

23586506

human chromosome 18 ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

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ensembl Release 106 ^ingelesa

cytogenetic location ^ingelesa

18q11.2

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NCBI Gene ^ingelesa

15 maiatza 2022

HomoloGene ID ^ingelesa

228

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NCBI Gene ^ingelesa

15 maiatza 2022

Gene Atlas image ^ingelesa

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

0 erreferentzia

Npc1 ^ingelesa

2 erreferentzia

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

228

Orthologous MAtrix ^ingelesa

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

NCR1 ^ingelesa

Saccharomyces cerevisiae S288c

Erreferentzia bat

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

228

Npc1 ^ingelesa

Arratoi arrunt

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HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

228

Npc1a ^ingelesa

ozpin-euli

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HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

228

npc1 ^ingelesa

Danio rerio

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HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

228

expressed in ^ingelesa

secondary oocyte ^ingelesa

1

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Bgee ^ingelesa

7 ekaina 2024

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

middle frontal gyrus ^ingelesa

2

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

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

Gorputz kailukara

3

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

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

C1 segment ^ingelesa

4

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

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

cartilage tissue ^ingelesa

5

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

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

right adrenal cortex ^ingelesa

6

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

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

left adrenal cortex ^ingelesa

7

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

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

inferior ganglion of vagus nerve ^ingelesa

8

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

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

Parotida guruin

9

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

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

internal globus pallidus ^ingelesa

10

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

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

baliokidetasun zehatza

http://identifiers.org/ncbigene/4864

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Identifiers.org ^ingelesa

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

Commons-eko kategoria

NPC1

0 erreferentzia

Identifikatzaileak

RNAren identifikatzailea

NM_000271

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NCBI Gene ^ingelesa

15 maiatza 2022

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NCBI Gene ^ingelesa

15 maiatza 2022

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NCBI Gene ^ingelesa

15 maiatza 2022

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Erreferentzia bat

NCBI Gene ^ingelesa

10 apirila 2022

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NCBI Gene ^ingelesa

15 maiatza 2022

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ensembl Release 106 ^ingelesa

Ensembl-ren transkripzio-identifikatzailea

ENST00000593280

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ensembl Release 106 ^ingelesa

ENST00000269228

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ensembl Release 106 ^ingelesa

ENST00000540608

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ensembl Release 106 ^ingelesa

ENST00000586150

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ensembl Release 106 ^ingelesa

ENST00000586718

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ensembl Release 106 ^ingelesa

ENST00000587163

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ensembl Release 106 ^ingelesa

ENST00000587223

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ensembl Release 106 ^ingelesa

ENST00000588867

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ensembl Release 106 ^ingelesa

ENST00000590301

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ensembl Release 106 ^ingelesa

ENST00000590723

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ensembl Release 106 ^ingelesa

ENST00000591051

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ensembl Release 106 ^ingelesa

ENST00000591075

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ensembl Release 106 ^ingelesa

ENST00000591107

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ensembl Release 106 ^ingelesa

ENST00000591955

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ensembl Release 106 ^ingelesa

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NCBI Gene ^ingelesa

15 maiatza 2022

HGNC ID ^ingelesa

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NCBI Gene ^ingelesa

15 maiatza 2022

Microsoft Academic identifikatzailea

2778552423

0 erreferentzia

OMIM ID ^ingelesa

607623

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Online Mendelian Inheritance in Man

OpenAlex identifikatzailea

19 abuztua 2019

Erreferentzia bat

26 urtarrila 2022

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

UMLS CUI

C1417776

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based on heuristic ^ingelesa

inferred by common HGNC mappings on source and on Wikidata ^ingelesa

UMLS 2023 ^ingelesa