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MIRAGE
Membrane-bound transcription factor site-2 protease
Summary
- UniProt ID
- O43462
- Gene Symbol
-
- MBTPS2
- S2P
- Gene ID
- 51360
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Cholesterol metabolism
- Cytoplasm
- Disease variant
- Glycoprotein
- Golgi apparatus
- Ichthyosis
- Metal-binding
- Metalloprotease
- Osteogenesis imperfecta
- Palmoplantar keratoderma
- Reference proteome
- Transmembrane helix
- Zinc
- Gene Ontology (GO)
| GO Term |
|---|
| cytoplasm |
| membrane |
| Golgi membrane |
| GO Term |
|---|
| metalloendopeptidase activity |
| transcription regulator activator activity |
| metal ion binding |
Sequence
MIPVSLVVVVVGGWTVVYLTDLVLKSSVYFKHSYEDWLENNGLSISPFHIRWQTAVFNRAFYSWGRRKARMLYQWFNFGMVFGVIAMFSSFFLLGKTLMQTLAQMMADSPSSYSSSSSSSSSSSSSSSSSSSSSSSLHNEQVLQVVVPGINLPVNQLTYFFTAVLISGVVHEIGHGIAAIREQVRFNGFGIFLFIIYPGAFVDLFTTHLQLISPVQQLRIFCAGIWHNFVLALLGILALVLLPVILLPFYYTGVGVLITEVAEDSPAIGPRGLFVGDLVTHLQDCPVTNVQDWNECLDTIAYEPQIGYCISASTLQQLSFPVRAYKRLDGSTECCNNHSLTDVCFSYRNNFNKRLHTCLPARKAVEATQVCRTNKDCKKSSSSSFCIIPSLETHTRLIKVKHPPQIDMLYVGHPLHLHYTVSITSFIPRFNFLSIDLPVVVETFVKYLISLSGALAIVNAVPCFALDGQWILNSFLDATLTSVIGDNDVKDLIGFFILLGGSVLLAANVTLGLWMVTAR
Glycosylation Sites
G06825YI
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| ATF6 (ATF6-alpha) activates chaperones | Homo sapiens |
| ATF6B (ATF6-beta) activates chaperones | Homo sapiens |
| Assembly of active LPL and LIPC lipase complexes | Homo sapiens |
| CREB3 factors activate genes | Homo sapiens |
| Regulation of cholesterol biosynthesis by SREBP (SREBF) | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0080754 | X-linked keratosis follicularis spinulosa decalvans | |
| DOID:0111821 | ichthyosis follicularis-alopecia-photophobia syndrome 1 | |
| DOID:0111847 | osteogenesis imperfecta type 19 | |
| DOID:0112012 | X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques |
