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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
NPC intracellular cholesterol transporter 1
Summary
- UniProt ID
- O15118
- Gene Symbol
-
- NPC1
- Organism
- Homo sapiens (human)
External Links
- GlycoProtDB
- GPDB0011183
- GlyConnect
- GlyGen
- O15118
- PubChem
- O15118
- SwissLipids
- The O-GlcNAc Database
- O15118
- RaftProt
- O15118
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Cholesterol metabolism
- Disease variant
- Disulfide bond
- Endosome
- Glycoprotein
- Host cell receptor for virus entry
- Host-virus interaction
- Lipid transport
- Lysosome
- Niemann-Pick disease
- Reference proteome
- Signal
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| liver development |
| endocytosis |
| autophagy |
| lysosomal transport |
| bile acid metabolic process |
| gene expression |
| programmed cell death |
| macroautophagy |
| negative regulation of macroautophagy |
| neurogenesis |
| GO Term |
|---|
| endoplasmic reticulum |
| perinuclear region of cytoplasm |
| GO Term |
|---|
| transmembrane signaling receptor activity |
| signaling receptor activity |
| cholesterol binding |
| virus receptor activity |
| sterol transporter activity |
Sequence
MTARGLALGLLLLLLCPAQVFSQSCVWYGECGIAYGDKRYNCEYSGPPKPLPKDGYDLVQELCPGFFFGNVSLCCDVRQLQTLKDNLQLPLQFLSRCPSCFYNLLNLFCELTCSPRQSQFLNVTATEDYVDPVTNQTKTNVKELQYYVGQSFANAMYNACRDVEAPSSNDKALGLLCGKDADACNATNWIEYMFNKDNGQAPFTITPVFSDFPVHGMEPMNNATKGCDESVDEVTAPCSCQDCSIVCGPKPQPPPPPAPWTILGLDAMYVIMWITYMAFLLVFFGAFFAVWCYRKRYFVSEYTPIDSNIAFSVNASDKGEASCCDPVSAAFEGCLRRLFTRWGSFCVRNPGCVIFFSLVFITACSSGLVFVRVTTNPVDLWSAPSSQARLEKEYFDQHFGPFFRTEQLIIRAPLTDKHIYQPYPSGADVPFGPPLDIQILHQVLDLQIAIENITASYDNETVTLQDICLAPLSPYNTNCTILSVLNYFQNSHSVLDHKKGDDFFVYADYHTHFLYCVRAPASLNDTSLLHDPCLGTFGGPVFPWLVLGGYDDQNYNNATALVITFPVNNYYNDTEKLQRAQAWEKEFINFVKNYKNPNLTISFTAERSIEDELNRESDSDVFTVVISYAIMFLYISLALGHMKSCRRLLVDSKVSLGIAGILIVLSSVACSLGVFSYIGLPLTLIVIEVIPFLVLAVGVDNIFILVQAYQRDERLQGETLDQQLGRVLGEVAPSMFLSSFSETVAFFLGALSVMPAVHTFSLFAGLAVFIDFLLQITCFVSLLGLDIKRQEKNRLDIFCCVRGAEDGTSVQASESCLFRFFKNSYSPLLLKDWMRPIVIAIFVGVLSFSIAVLNKVDIGLDQSLSMPDDSYMVDYFKSISQYLHAGPPVYFVLEEGHDYTSSKGQNMVCGGMGCNNDSLVQQIFNAAQLDNYTRIGFAPSSWIDDYFDWVKPQSSCCRVDNITDQFCNASVVDPACVRCRPLTPEGKQRPQGGDFMRFLPMFLSDNPNPKCGKGGHAAYSSAVNILLGHGTRVGATYFMTYHTVLQTSADFIDALKKARLIASNVTETMGINGSAYRVFPYSVFYVFYEQYLTIIDDTIFNLGVSLGAIFLVTMVLLGCELWSAVIMCATIAMVLVNMFGVMWLWGISLNAVSLVNLVMSCGISVEFCSHITRAFTVSMKGSRVERAEEALAHMGSSVFSGITLTKFGGIVVLAFAKSQIFQIFYFRMYLAMVLLGATHGLIFLPVLLSYIGPSVNKAKSCATEERYKGTERERLLNF
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 459 | N-linked (GlcNAc...) asparagine |
|
||
| 475 |
|
|
||
| 478 | N-linked (GlcNAc...) asparagine |
|
||
| 524 | N-linked (GlcNAc...) asparagine |
|
||
| 557 | N-linked (GlcNAc...) asparagine |
|
||
| 572 | N-linked (GlcNAc...) asparagine |
|
||
| 593 |
|
|
||
| 596 |
|
|
||
| 598 | N-linked (GlcNAc...) asparagine | |||
| 916 | N-linked (GlcNAc...) asparagine |
|
G37818NZ
G40926MX
G59626AS
G80920RR
G62765YT
G57776ZU
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| LDL clearance | Homo sapiens |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070113 | Niemann-Pick disease type C1 |
