| Type | Description |
|---|---|
| Definition | NPC intracellular cholesterol transporter 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-13 10:10:00 | Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1. | 33139814 |
| 2021-04-13 10:08:00 | High-content imaging and structure-based predictions reveal functional differences between Niemann-Pick C1 variants. | 32144825 |
| 2021-04-03 13:28:00 | Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson's disease. | 32371106 |
| 2021-03-20 13:27:00 | Inter-domain dynamics drive cholesterol transport by NPC1 and NPC1L1 proteins. | 32410728 |
| 2021-02-27 13:49:00 | Selective Degradation Permits a Feedback Loop Controlling Annexin A6 and Cholesterol Levels in Endolysosomes of NPC1 Mutant Cells. | 32392809 |
| Type | IDs |
|---|---|
| Synonymous | NPC, POGZ, SLC65A1 |
| Gene |
UniProtKB-ID:
NPC1_HUMAN
UniprotKB:
O15118
UniParc:
UPI00017A6C51,
UPI000013D80F
EMBL:
AF157375,
AF157365,
AF157378,
AF157373,
AC010853,
AH009108,
AF157377,
AF157372,
AF157371,
AF338230,
AF157379,
AF157368,
AK293779,
AF157370,
BC063302,
AF157366,
AF002020,
AF157376,
AF157367,
AC026634,
AF157369,
AF157374
Ensembl:
ENSG00000141458
KO:
hsa:4864
|
| Nucleutide sequences |
EMBL-CDS:
AAD48006.1,
BAG57194.1,
AAH63302.1,
AAK25791.1,
AAB63982.1,
AAF28875.1
Ensembl_TRS:
ENST00000269228
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000269228
RefSeq:
XP_005258334.1,
NP_000262.2,
XP_016881276.1,
XP_016881273.1,
XP_005258335.1,
XP_005258336.1,
XP_016881275.1,
XP_016881274.1,
XP_006722542.1
|
| Others |
UniRef100:
UniRef100_O15118
UniRef90:
UniRef90_O15118
UniRef50:
UniRef50_O15118
UniGene:
Hs.464779,
Hs.715623
CCDS:
CCDS11878.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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