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

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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

HGNC:7897 NPC1

KEGG Gene (Homo sapiens):4864 NPC1

Monarch:4864 NPC1

NCBI Gene:4864 NPC1

OMIM:607623 NPC1

UCSC:O15118 NPC1

Reference Transcript

RefSeq:NM_000271.4 NPC1

Other Identifiers

0006650563

11743916_a_at

11746723_a_at

16854268

202679_at

26618

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

3GKH

3GKI

3GKJ

3JD8

4864

5F18

5F1B

5HNS

5JNX

5KWY

5U73

5U74

70132

77445

8022531

980_at

A_23_P107587

AAB63982

AAD48006

AAF28875

AAH63302

AAK25791

AC010853

AC026634

AF002020

AF002020_at

AF157365

AF157366

AF157367

AF157368

AF157369

AF157370

AF157371

AF157372

AF157373

AF157374

AF157375

AF157376

AF157377

AF157378

AF157379

AF338230

AH009108

AK293779

BAG57194

BC063302

CAB070132

CCDS11878

ENSG00000141458

ENSP00000269228

ENST00000269228

ENST00000269228.9

EntrezGene:4864

EntrezGene:NPC1

g4557802_3p_at

GE54045

GO:0001618

GO:0003674

GO:0004888

GO:0005319

GO:0005515

GO:0005575

GO:0005576

GO:0005615

GO:0005622

GO:0005623

GO:0005634

GO:0005635

GO:0005737

GO:0005764

GO:0005765

GO:0005768

GO:0005773

GO:0005783

GO:0005794

GO:0005886

GO:0005887

GO:0006464

GO:0006486

GO:0006629

GO:0006810

GO:0006869

GO:0006897

GO:0006914

GO:0007034

GO:0007041

GO:0007628

GO:0008150

GO:0008202

GO:0008203

GO:0008206

GO:0008219

GO:0008289

GO:0009056

GO:0009058

GO:0015248

GO:0015485

GO:0016020

GO:0016021

GO:0016032

GO:0016192

GO:0016242

GO:0030301

GO:0031410

GO:0031579

GO:0031902

GO:0031982

GO:0032367

GO:0033344

GO:0034383

GO:0038023

GO:0042493

GO:0042592

GO:0042632

GO:0043226

GO:0044281

GO:0044403

GO:0045121

GO:0046686

GO:0046718

GO:0048471

GO:0060548

GO:0061024

GO:0070062

GO:0071383

GO:0071404

GO:0090150

GO:1905103

HGNC:7897

HPA026618

HPA077445

ILMN_1713505

IPR000731

IPR003392

IPR004765

IPR032190

K7EIH7

MIM:257220

MIM:607623

NM_000271

NP_000262

NPC1

NPC1-201

PF02460

PF12349

PF16414

PH_hs_0024642

TC18000413.hg

UPI000013D80F

XM_005258277

XM_005258278

XM_005258279

XM_006722479

XM_017025784

XM_017025785

XM_017025786

XM_017025787

XP_005258334

XP_005258335

XP_005258336

XP_006722542

XP_016881273

XP_016881274

XP_016881275

XP_016881276

Participant Of

input

NPC2 transfers CHOL to NPC1

output

CHOL translocates from lysosome membrane to ER membrane

hasComponent

NPC1:CHOL [lysosomal membrane]

Inferred To

snrnp40 [lysosomal membrane] (Xenopus tropicalis)

Npc1a [lysosomal membrane] (Drosophila melanogaster)

Npc1 [lysosomal membrane] (Mus musculus)

Npc1 [lysosomal membrane] (Rattus norvegicus)

npcA [lysosomal membrane] (Dictyostelium discoideum)

NCR1 [lysosomal membrane] (Saccharomyces cerevisiae)

NPC1 [lysosomal membrane] (Bos taurus)

NPC1 [lysosomal membrane] (Canis familiaris)

NPC1 [lysosomal membrane] (Gallus gallus)

NPC1 [lysosomal membrane] (Sus scrofa)

ncr-2 [lysosomal membrane] (Caenorhabditis elegans)

npc1 [lysosomal membrane] (Danio rerio)

Cross References

RefSeq

NP_000262.2

OpenTargets

ENSG00000141458

GeneCards

O15118

ZINC - Substances

NPC1_HUMAN

HPA

ENSG00000141458-NPC1

ZINC target

O15118

Ensembl

ENSG00000141458, ENSP00000269228, ENST00000269228

PRO

O15118

ZINC - Predictions - Purchasable

NPC1_HUMAN

Orphanet

16561

PDB

5U74, 5KWY, 5JNX, 3GKJ, 5F18, 5HNS, 3JD8, 5F1B, 5U73, 3GKH, 3GKI

Interactors (6)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
cholesterol [ChEBI:16113]	20	CHOL [lipid droplet] (R-ALL-163586) cholesterol [endocytic vesicle lumen] (R-ALL-2239405) 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 [smooth endoplasmic reticulum] (R-ALL-8866305) CHOL [lysosomal lumen] (R-ALL-8848047) CHOL [plasma membrane] (R-ALL-171095) CHOL [mitochondrial matrix] (R-ALL-193840) CHOL [endoplasmic reticulum membrane] (R-ALL-193384) CHOL [transport vesicle membrane] (R-ALL-216762) CHOL [early endosome] (R-ALL-2429660) CHOL [mitochondrial outer membrane] (R-ALL-8951853) cholesterol [mitochondrial intermembrane space] (R-ALL-196084) CHOL [mitochondrial inner membrane] (R-ALL-193156) CHOL [endoplasmic reticulum lumen] (R-ALL-174672) CHOL [cornified envelope] (R-ALL-8847704) CHOL [cytosol] (R-ALL-176478) CHOL [extracellular region] (R-ALL-171149)	0.799	8
UniProt:P61916 NPC2	3	NPC2 [extracellular region] (R-HSA-6806224) NPC2 [lysosomal lumen] (R-HSA-8876488) NPC2 [azurophil granule lumen] (R-HSA-6799163)	0.667	3
25-hydroxycholesterol [ChEBI:42977]	4	25OH-CHOL [plasma membrane] (R-ALL-8868400) 25OH-CHOL [cytosol] (R-ALL-192148) 25OH-CHOL [Golgi membrane] (R-ALL-8868393) 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 [early endosome membrane] (R-HSA-5368451) CAV1 [plasma membrane] (R-HSA-534994) CAV1 [lipid droplet] (R-HSA-163510) CAV1 [endocytic vesicle membrane] (R-HSA-535009) CAV1 [Golgi membrane] (R-HSA-204504)	0.463	3