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Myocilin

Summary

UniProt ID

Q99972

Gene Symbol

GLC1A
MYOC
TIGR

Gene ID

4653

Organism

Homo sapiens (human)

External Links

GlyGen: Q99972
PubChem: Q99972
Re-Glyco: Q99972

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
Reference proteome
Signal

Gene Ontology (GO)

Displaying entries **1 - 10** of 12 in total

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GO Term
extracellular space
mitochondrial inner membrane
cilium
cytoplasmic vesicle
collagen-containing extracellular matrix
endoplasmic reticulum
rough endoplasmic reticulum
Golgi apparatus
mitochondrial outer membrane
mitochondrial intermembrane space

Subcellular Location(GO Annotation)

Subcellular in which this glycoprotein is expressed are highlighted in blue.

Displaying entries **1 - 10** of 20 in total

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GO Term
osteoblast differentiation
neuron projection development
non-canonical Wnt signaling pathway
positive regulation of stress fiber assembly
positive regulation of focal adhesion assembly
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
negative regulation of cell-matrix adhesion
negative regulation of Rho protein signal transduction
regulation of MAPK cascade
clustering of voltage-gated sodium channels

Displaying **all 5** entries
GO Term
metal ion binding
receptor tyrosine kinase binding
fibronectin binding
frizzled binding
myosin light chain binding

Annotation information from UniProt.

Sequence

MRFFCARCCSFGPEMPAVQLLLLACLVWDVGARTAQLRKANDQSGRCQYTFSVASPNESSCPEQSQAMSVIHNLQRDSSTQRLDLEATKARLSSLESLLHQLTLDQAARPQETQEGLQRELGTLRRERDQLETQTRELETAYSNLLRDKSVLEEEKKRLRQENENLARRLESSSQEVARLRRGQCPQTRDTARAVPPGSREVSTWNLDTLAFQELKSELTEVPASRILKESPSGYLRSGEGDTGCGELVWVGEPLTLRTAETITGKYGVWMRDPKPTYPYTQETTWRIDTVGTDVRQVFEYDLISQFMQGYPSKVHILPRPLESTGAVVYSGSLYFQGAESRTVIRYELNTETVKAEKEIPGAGYHGQFPYSWGGYTDIDLAVDEAGLWVIYSTDEAKGAIVLSKLNPENLELEQTWETNIRKQSVANAFIICGTLYTVSSYTSADATVNFAYDTGTGISKTLTIPFKNRYKYSSMIDYNPLEKKLFAWDNLNMVTYDIKLSKM

N : N-glycosylation Site
___ : Potential Sequon

Glycosylation Sites

Displaying 1 entry
Position	Description	PubMed ID	GlyTouCan ID	Source
57	N-linked (GlcNAc...) asparagine	17650508		UniProt GlyGen

Feature

: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt

Disease

Displaying **all 5** entries
DO ID	Disease Name	Source
DOID:1067	open-angle glaucoma	Alliance of Genome Resources
DOID:1068	juvenile glaucoma	Alliance of Genome Resources
DOID:1070	primary open angle glaucoma	Alliance of Genome Resources
DOID:13544	low tension glaucoma	Alliance of Genome Resources
DOID:9282	ocular hypertension	Alliance of Genome Resources

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

International Collaboration

Acknowledgements