NPC1

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
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:ENSG00000141458 NPC1
HGNC:7897 NPC1
KEGG Gene (Homo sapiens):hsa:4864 NPC1
Monarch:4864 NPC1
NCBI Gene:4864 NPC1
OMIM:607623 NPC1
UCSC:O15118 NPC1
Reference Transcript
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
EntrezGene:4864
g4557802_3p_at
GE54045
GO:0001618
GO:0003674
GO:0004871
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:0005975
GO:0006464
GO:0006486
GO:0006629
GO:0006810
GO:0006897
GO:0006914
GO:0007034
GO:0007041
GO:0007165
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: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
HGNC:7897
HPA026618
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
uc002kum.5
UPI000013D80F
XM_005258277
XM_005258278
XM_005258279
XM_006722479
XM_011526015
XM_017025784
XM_017025785
XM_017025786
XM_017025787
XP_005258334
XP_005258335
XP_005258336
XP_006722542
XP_011524317
XP_016881273
XP_016881274
XP_016881275
XP_016881276
Participant Of
input
output
hasComponent
Inferred To
Homologues of NPC1 [lysosomal membrane] (Arabidopsis thaliana)
Homologues of NPC1 [lysosomal membrane] (Danio rerio)
Homologues of NPC1 [lysosomal membrane] (Dictyostelium discoideum)
Homologues of NPC1 [lysosomal membrane] (Drosophila melanogaster)
Homologues of NPC1 [lysosomal membrane] (Gallus gallus)
Homologues of NPC1 [lysosomal membrane] (Rattus norvegicus)
NPC1 [lysosomal membrane] (Arabidopsis thaliana)
NPC1 [lysosomal membrane] (Bos taurus)
NPC1 [lysosomal membrane] (Canis familiaris)
NPC1 [lysosomal membrane] (Danio rerio)
NPC1 [lysosomal membrane] (Dictyostelium discoideum)
NPC1 [lysosomal membrane] (Drosophila melanogaster)
NPC1 [lysosomal membrane] (Gallus gallus)
NPC1 [lysosomal membrane] (Mus musculus)
NPC1 [lysosomal membrane] (Oryza sativa)
NPC1 [lysosomal membrane] (Rattus norvegicus)
NPC1 [lysosomal membrane] (Saccharomyces cerevisiae)
NPC1 [lysosomal membrane] (Sus scrofa)
NPC1 [lysosomal membrane] (Taeniopygia guttata)
NPC1 [lysosomal membrane] (Xenopus tropicalis)
Cross References
RefSeq
GeneCards
ZINC - Substances
ZINC target
PRO
Orphanet
ZINC - Predictions - Purchasable
PDB
Interactors (5)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 cholesterol [ChEBI:16113]  20 0.733 7
 25-hydroxycholesterol [ChEBI:42977]  4 0.558 2
 UniProt:X5HMX4 X5HMX4      0.558 3
 UniProt:P61916 NPC2  3 0.524 2
 UniProt:Q03135 CAV1  5 0.463 3