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Guidelines
MIRAGE
Niemann Pick type C1
Summary
- UniProt ID
- Q7TMD4
- Gene Symbol
-
- Npc1
- Gene ID
- 18145
- Organism
- Mus musculus (house mouse)
External Links
- GlycoProtDB
- GPDB0005957
- Re-Glyco
- Q7TMD4
Annotation
- Keyword
-
- Disulfide bond
- Lipid transport
- Signal
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| nuclear envelope |
| plasma membrane |
| endoplasmic reticulum |
| perinuclear region of cytoplasm |
| GO Term |
|---|
| bile acid metabolic process |
| lysosomal transport |
| cholesterol transport |
| cholesterol homeostasis |
| GO Term |
|---|
| lipid transporter activity |
Sequence
MGAHHPALGLLLLLLCPAQVFSQSCVWYGECGIATGDKRYNCKYSGPPKPLPKDGYDLVQELCPGLFFDNVSLCCDIQQLQTLKSNLQLPLQFLSRCPSCFYNLMTLFCELTCSPHQSQFLNVTATEDYFDPKTQENKTNVKELEYFVGQSFANAMYNACRDVEAPSSNEKALGLLCGRDARACNATNWIEYMFNKDNGQAPFTIIPVFSDLSILGMEPMRNATKGCNESVDEVTGPCSCQDCSIVCGPKPQPPPPPMPWRIWGLDAMYVIMWVTYVAFLFVFFGALLAVWCHRRRYFVSEYTPIDSNIAFSVNSSDKGEASCCDPLGAAFDDCLRRMFTKWGAFCVRNPTCIIFFSLAFITVCSSGLVFVQVTTNPVELWSAPHSQARLEKEYFDKHFGPFFRTEQLIIQAPNTSVHIYEPYPAGADVPFGPPLNKEILHQVLDLQIAIESITASYNNETVTLQDICVAPLSPYNKNCTIMSVLNYFQNSHAVLDSQVGDDFYIYADYHTHFLYCVRAPASLNDTSLLHGPCLGTFGGPVFPWLVLGGYDDQNYNNATALVITFPVNNYYNDTERLQRAWAWEKEFISFVKNYKNPNLTISFTAERSIEDELNRESNSDVFTVIISYVVMFLYISLALGHIQSCSRLLVDSKISLGIAGILIVLSSVACSLGIFSYMGMPLTLIVIEVIPFLVLAVGVDNIFILVQTYQRDERLQEETLDQQLGRILGEVAPTMFLSSFSETSAFFFGALSSMPAVHTFSLFAGMAVLIDFLLQITCFVSLLGLDIKRQEKNHLDILCCVRGADDGQGSHASESYLFRFFKNYFAPLLLKDWLRPIVVAVFVGVLSFSVAVVNKVDIGLDQSLSMPNDSYVIDYFKSLAQYLHSGPPVYFVLEEGYNYSSRKGQNMVCGGMGCDNDSLVQQIFNAAELDTYTRVGFAPSSWIDDYFDWVSPQSSCCRLYNVTHQFCNASVMDPTCVRCRPLTPEGKQRPQGKEFMKFLPMFLSDNPNPKCGKGGHAAYGSAVNIVGDDTYIGATYFMTYHTILKTSADYTDAMKKARLIASNITETMRSKGSDYRVFPYSVFYVFYEQYLTIIDDTIFNLSVSLGSIFLVTLVVLGCELWSAVIMCITIAMILVNMFGVMWLWGISLNAVSLVNLVMSCGISVEFCSHITRAFTMSTKGSRVSRAEEALAHMGSSVFSGITLTKFGGIVVLAFAKSQIFEIFYFRMYLAMVLLGATHGLIFLPVLLSYIGPSVNKAKRHTTYERYRGTERKRLLNF
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 185 |
|
|
||
| 414 |
|
|
||
| 598 |
|
|
||
| 898 |
|
|
||
| 916 |
|
|
||
| 961 |
|
|
||
| 968 |
|
|
||
| 1063 |
|
|
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070113 | Niemann-Pick disease type C1 | |
| DOID:14504 | Niemann-Pick disease |
