Reactome | NPC1 [lysosomal membrane]

NPC1 [lysosomal membrane]

Stable Identifier

R-HSA-5216153

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

lysosomal membrane

Synonyms

Niemann-Pick C1 protein, NPC1_HUMAN

Locations in the PathwayBrowser for interactor UniProt:Q03135

Expand all

External Reference Information

External Reference

UniProt:O15118 NPC1

Gene Names

NPC1

Chain

signal peptide:1-22, chain:23-1278

Reference Genes

BioGPS Gene:4864 NPC1

COSMIC (genes):NPC1 NPC1

CTD Gene:4864 NPC1

dbSNP Gene:4864 NPC1

ENSEMBL:ENSG00000141458 NPC1

ENSEMBL_homo_sapiens_GENE:ENSG00000141458.13 NPC1

HGNC:7897 NPC1

Monarch:4864 NPC1

NCBI Gene:4864 NPC1

OMIM:607623 NPC1

UCSC:O15118 NPC1

Reference Transcript

RefSeq:NM_000271.4 NPC1

Other Identifiers

11743916_a_at

11746723_a_at

16854268

202679_PM_at

202679_at

37047_at

3801422

3801423

3801424

3801425

3801428

3801430

3801433

3801435

3801436

3801440

3801441

3801444

3801445

3801447

3801449

3801450

3801453

3801455

3801456

3801458

3801463

3801465

3801467

3801468

3801469

3801470

3801471

3801473

3801474

3801475

3801481

3801482

4864

8022531

980_at

AF002020_at

A_23_P107587

GE54045

GO:0001618

GO:0001889

GO:0004888

GO:0005215

GO:0005319

GO:0005515

GO:0005576

GO:0005615

GO:0005634

GO:0005635

GO:0005764

GO:0005765

GO:0005768

GO:0005773

GO:0005783

GO:0005794

GO:0005886

GO:0005975

GO:0006486

GO:0006629

GO:0006869

GO:0006897

GO:0006914

GO:0007041

GO:0007628

GO:0008202

GO:0008203

GO:0008206

GO:0008289

GO:0009410

GO:0010467

GO:0010878

GO:0012501

GO:0015248

GO:0015485

GO:0015918

GO:0016020

GO:0016125

GO:0016192

GO:0016236

GO:0016242

GO:0022008

GO:0022600

GO:0023052

GO:0030154

GO:0030299

GO:0030301

GO:0031410

GO:0031579

GO:0031902

GO:0031982

GO:0032367

GO:0033344

GO:0036211

GO:0038023

GO:0042632

GO:0043226

GO:0045121

GO:0046686

GO:0046718

GO:0048471

GO:0048856

GO:0051649

GO:0060089

GO:0061024

GO:0070062

GO:0071383

GO:0071404

GO:0090150

GO:1901135

GO:1904036

GO:1904262

GO:2000900

HMNXSV003020589

HMNXSV003050234

ILMN_1713505

PH_hs_0024642

TC18000413.hg

g4557802_3p_at

Participates

as an input of

NPC2 transfers CHOL to NPC1 (Homo sapiens)

as an output of

CHOL translocates from lysosome membrane to ER membrane (Homo sapiens)

as a component of

NPC1:CHOL [lysosomal membrane] (Homo sapiens)

Inferred To

Npc1a [lysosomal membrane] (Drosophila melanogaster)

Npc1 [lysosomal membrane] (Rattus norvegicus)

NCR1 [lysosomal membrane] (Saccharomyces cerevisiae)

NPC1 [lysosomal membrane] (Bos taurus)

NPC1 [lysosomal membrane] (Canis familiaris)

NPC1 [lysosomal membrane] (Dictyostelium discoideum)

NPC1 [lysosomal membrane] (Gallus gallus)

NPC1 [lysosomal membrane] (Mus musculus)

NPC1 [lysosomal membrane] (Sus scrofa)

ncr-2 [lysosomal membrane] (Caenorhabditis elegans)

npc1 [lysosomal membrane] (Xenopus tropicalis)

Cross References

RefSeq

NP_000262.2

Guide to Pharmacology - Targets

3051

OpenTargets

ENSG00000141458

ZINC - Substances

NPC1_HUMAN

ZINC target

O15118

PRO

O15118

PDB

6W5S, 5HNS, 6W5U, 3GKI, 8EUS, 5F1B, 5U74, 5KWY, 3GKJ, 5F18, 6UOX, 3GKH, 6W5T, 3JD8, 6W5R, 5U73, 6W5V, 5JNX

HPA

ENSG00000141458-NPC1

GeneCards

O15118

Ensembl

ENSP00000269228, ENSG00000141458, ENST00000269228

Pharos - Targets

O15118

Orphanet

16561

ZINC - Predictions - Purchasable

NPC1_HUMAN

Interactors (8)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
cholesterol [ChEBI:16113]	20	CHOL [lipid droplet] (R-ALL-163586) CHOL [early endosome] (R-ALL-2429660) CHOL [mitochondrial matrix] (R-ALL-193840) CHOL [cornified envelope] (R-ALL-8847704) cholesterol [mitochondrial intermembrane space] (R-ALL-196084) CHOL [mitochondrial outer membrane] (R-ALL-8951853) CHOL [mitochondrial inner membrane] (R-ALL-193156) CHOL [lysosomal membrane] (R-ALL-8876478) cholesterol [endosome lumen] (R-ALL-171083) cholesterol [endosome membrane] (R-ALL-171135) cholesterol [clathrin-coated endocytic vesicle membrane] (R-ALL-171069) CHOL [endoplasmic reticulum lumen] (R-ALL-174672) CHOL [smooth endoplasmic reticulum] (R-ALL-8866305) CHOL [transport vesicle membrane] (R-ALL-216762) CHOL [lysosomal lumen] (R-ALL-8848047) CHOL [cytosol] (R-ALL-176478) cholesterol [endocytic vesicle lumen] (R-ALL-2239405) CHOL [plasma membrane] (R-ALL-171095) CHOL [endoplasmic reticulum membrane] (R-ALL-193384) CHOL [extracellular region] (R-ALL-171149)	0.799	8
UniProt:P61916 NPC2	3	NPC2 [lysosomal lumen] (R-HSA-8876488) NPC2 [extracellular region] (R-HSA-6806224) NPC2 [azurophil granule lumen] (R-HSA-6799163)	0.667	3
UniProt:P0DTC9 N	13	SUMO1-K62-ADPr-p-11S,2T-metR95,177-N [plasma membrane] (R-COV-9729325) SUMO1-K62-ADPr-p-11S,2T-metR95,177-N [nucleolus] (R-COV-9729339) N [plasma membrane] (R-COV-9694356) SUMO1-K62,ADPr-,p-11S,2T,met-R95,177,Ac-K375-N [cytosol] (R-COV-9756489) N [cytosol] (R-COV-9694300) p-S188,206-N [cytosol] (R-COV-9729324) p-8S-N [cytosol] (R-COV-9729335) p-8S,2T-N [cytosol] (R-COV-9729277) p-11S,2T-N [cytosol] (R-COV-9729264) p-11S,2T-metR95,177-N [cytosol] (R-COV-9729308) ADPr-p-11S,2T-metR95,177-N [cytosol] (R-COV-9729275) SUMO1-K62-ADPr-p-11S,2T-metR95,177-N [endoplasmic reticulum-Golgi intermediate compartment membrane] (R-COV-9729341) SUMO1-K62-ADPr-p-11S,2T-metR95,177-N [cytosol] (R-COV-9729340)	0.591	3
25-hydroxycholesterol [ChEBI:42977]	4	25OH-CHOL [cytosol] (R-ALL-192148) 25OH-CHOL [Golgi membrane] (R-ALL-8868393) 25OH-CHOL [plasma membrane] (R-ALL-8868400) 25OH-CHOL [endoplasmic reticulum membrane] (R-ALL-8868399)	0.558	2
UniProt:X5HMX4 X5HMX4			0.558	3
UniProt:P87666 VGP			0.522	3
UniProt:Q03135 CAV1	5	CAV1 [Golgi membrane] (R-HSA-204504) CAV1 [plasma membrane] (R-HSA-534994) CAV1 [early endosome membrane] (R-HSA-5368451) CAV1 [lipid droplet] (R-HSA-163510) CAV1 [endocytic vesicle membrane] (R-HSA-535009)	0.463	3
UniProt:A0A0F6B1Q8 A0A0F6B1Q8			0.462	2

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