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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
Expand all
Transport of small molecules (Homo sapiens)
Plasma lipoprotein assembly, remodeling, and clearance (Homo sapiens)
Plasma lipoprotein clearance (Homo sapiens)
LDL clearance (Homo sapiens)
CHOL translocates from lysosome membrane to ER membrane (Homo sapiens)
NPC1 [lysosomal membrane] (Homo sapiens)
NPC1:CHOL [lysosomal membrane] (Homo sapiens)
NPC1 [lysosomal membrane] (Homo sapiens)
NPC2 transfers CHOL to NPC1 (Homo sapiens)
NPC1 [lysosomal membrane] (Homo sapiens)
NPC1:CHOL [lysosomal membrane] (Homo sapiens)
NPC1 [lysosomal membrane] (Homo sapiens)
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_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:0003674
GO:0004888
GO:0005319
GO:0005515
GO:0005575
GO:0005576
GO:0005615
GO:0005622
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:0009410
GO:0010467
GO:0015248
GO:0015485
GO:0016020
GO:0016021
GO:0016192
GO:0016242
GO:0030301
GO:0031410
GO:0031579
GO:0031902
GO:0031982
GO:0032367
GO:0033344
GO:0038023
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
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]
(Mus musculus)
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]
(Sus scrofa)
ncr-2 [lysosomal membrane]
(Caenorhabditis elegans)
npc1 [lysosomal membrane]
(Danio rerio)
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
5KWY
,
6W5R
,
5JNX
,
6W5V
,
5F18
,
6W5S
,
5U73
,
3GKH
,
6UOX
,
5U74
,
6W5T
,
3JD8
,
3GKI
,
5F1B
,
6W5U
,
5HNS
,
3GKJ
ZINC - Investigational
NPC1_HUMAN
HPA
ENSG00000141458-NPC1
GeneCards
O15118
Ensembl
ENST00000269228
,
ENSG00000141458
,
ENSP00000269228
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 [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 [early endosome]
(R-ALL-2429660)
CHOL [mitochondrial matrix]
(R-ALL-193840)
CHOL [transport vesicle membrane]
(R-ALL-216762)
CHOL [endoplasmic reticulum lumen]
(R-ALL-174672)
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 [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
UniProt:X5HMX4 X5HMX4
0.558
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: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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