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MIRAGE
Myocilin
Summary
- UniProt ID
- Q99972
- Gene Symbol
- MYOC GLC1A TIGR
- Gene ID
- 4653
- Organism
- Homo sapiens (human)
Annotation
- Keyword
- 3D-structure Calcium Cilium Coiled coil Cytoplasmic vesicle Direct protein sequencing Disease variant Disulfide bond Endoplasmic reticulum Extracellular matrix Glaucoma Glycoprotein Golgi apparatus Metal-binding Mitochondrion inner membrane Mitochondrion outer membrane Palmitate Proteomics identification Reference proteome Signal
Gene Ontology (GO)
| GO Term | Evidence Code | Reference |
|---|---|---|
| osteoblast differentiation | ||
| osteoblast differentiation | ||
| osteoblast differentiation | ||
| negative regulation of cell-matrix adhesion | ||
| signal transduction |
GO Hierarchy
biological process
cellular process [inference]
biological regulation [inference]
regulation of biological process [inference]
regulation of signaling [inference]
positive regulation of biological process [inference]
negative regulation of biological process [inference]
regulation of response to stimulus [inference]
regulation of cellular process [inference]
regulation of cell communication [inference]
regulation of cell adhesion [inference]
regulation of actin filament-based process [inference]
regulation of cellular component biogenesis [inference]
positive regulation of cellular process [inference]
regulation of cellular component organization [inference]
| GO Term | Evidence Code | Reference |
|---|---|---|
| obsolete extracellular space |
|
|
| mitochondrial outer membrane | ||
| mitochondrial outer membrane | ||
| mitochondrial inner membrane | ||
| mitochondrial inner membrane |
| GO Term | Evidence Code | Reference |
|---|---|---|
| fibronectin binding | ||
| frizzled binding | ||
| receptor tyrosine kinase binding | ||
| myosin light chain binding | ||
| metal ion binding |
|
|
GO Hierarchy
Sequence
MRFFCARCCSFGPEMPAVQLLLLACLVWDVGARTAQLRKANDQSGRCQYTFSVASPNESSCPEQSQAMSVIHNLQRDSSTQRLDLEATKARLSSLESLLHQLTLDQAARPQETQEGLQRELGTLRRERDQLETQTRELETAYSNLLRDKSVLEEEKKRLRQENENLARRLESSSQEVARLRRGQCPQTRDTARAVPPGSREVSTWNLDTLAFQELKSELTEVPASRILKESPSGYLRSGEGDTGCGELVWVGEPLTLRTAETITGKYGVWMRDPKPTYPYTQETTWRIDTVGTDVRQVFEYDLISQFMQGYPSKVHILPRPLESTGAVVYSGSLYFQGAESRTVIRYELNTETVKAEKEIPGAGYHGQFPYSWGGYTDIDLAVDEAGLWVIYSTDEAKGAIVLSKLNPENLELEQTWETNIRKQSVANAFIICGTLYTVSSYTSADATVNFAYDTGTGISKTLTIPFKNRYKYSSMIDYNPLEKKLFAWDNLNMVTYDIKLSKM
Glycosylation Sites
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:1070 | primary open angle glaucoma | |
| DOID:9282 | ocular hypertension | |
| DOID:13544 | low tension glaucoma | |
| DOID:1068 | juvenile glaucoma | |
| DOID:1067 | open-angle glaucoma |
