MYOC
Myocilin
Also known as: GLC1A, JOAG1, MYOC_HUMAN, TIGR
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q99972
- Gene
- MYOC
- Ensembl
- ENSG00000034971
- Chromosome
- 1
- Canonical length
- 504 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted secreted proteins
- Secretome location
- Secreted to extracellular matrix
- Quaternary structure
- Homodimer
OverviewNCBI Gene
MYOC encodes the protein myocilin, which is believed to have a role in cytoskeletal function. MYOC is expressed in many occular tissues, including the trabecular meshwork, and was revealed to be the trabecular meshwork glucocorticoid-inducible response protein (TIGR). The trabecular meshwork is a specialized eye tissue essential in regulating intraocular pressure, and mutations in MYOC have been identified as the cause of hereditary juvenile-onset open-angle glaucoma. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
504 residues, UniProt reviewed canonical sequence.
>Q99972|MYOC
1 MRFFCARCCS FGPEMPAVQL LLLACLVWDV GARTAQLRKA NDQSGRCQYT FSVASPNESS
61 CPEQSQAMSV IHNLQRDSST QRLDLEATKA RLSSLESLLH QLTLDQAARP QETQEGLQRE
121 LGTLRRERDQ LETQTRELET AYSNLLRDKS VLEEEKKRLR QENENLARRL ESSSQEVARL
181 RRGQCPQTRD TARAVPPGSR EVSTWNLDTL AFQELKSELT EVPASRILKE SPSGYLRSGE
241 GDTGCGELVW VGEPLTLRTA ETITGKYGVW MRDPKPTYPY TQETTWRIDT VGTDVRQVFE
301 YDLISQFMQG YPSKVHILPR PLESTGAVVY SGSLYFQGAE SRTVIRYELN TETVKAEKEI
361 PGAGYHGQFP YSWGGYTDID LAVDEAGLWV IYSTDEAKGA IVLSKLNPEN LELEQTWETN
421 IRKQSVANAF IICGTLYTVS SYTSADATVN FAYDTGTGIS KTLTIPFKNR YKYSSMIDYN
481 PLEKKLFAWD NLNMVTYDIK LSKMLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MYOC can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.39
- Highest tissue expression
- 103 nTPM
Expression across tissuesHPA
Tissue
- tongue: 103 nTPM
- blood vessel: 95 nTPM
- stomach: 47 nTPM
- adipose tissue: 44 nTPM
- urinary bladder: 37 nTPM
- skeletal muscle: 32 nTPM
Single-cell type
- fibroblasts: 115 nCPM
- fibro-adipogenic progenitors: 89 nCPM
- melanocytes: 64 nCPM
- peritubular myoid cells: 33 nCPM
- early spermatids: 11 nCPM
- smooth muscle cells: 8.6 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- medulla oblongata: 1.1 nTPM
- cerebellum: 0.4 nTPM
- pons: 0.4 nTPM
- thalamus: 0.3 nTPM
- white matter: 0.3 nTPM
- hypothalamus: 0.2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MYOC.
Disease | AllUniProt
Conditions MYOC is implicated in, by any mechanism.
- Glaucoma 1, open angle, A (GLC1A) MIM:137750
- Glaucoma 3, primary congenital, A (GLC3A) MIM:231300
Disease | GeneticClinVar
50 pathogenic / likely-pathogenic of 331 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Open-angle glaucoma
- Glaucoma 1, open angle, A
- Primary open angle glaucoma
- GLAUCOMA 1, OPEN ANGLE, A, DIGENIC
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.25
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.52
- DepMap mean gene effect
- -0.04
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- bone development
- clustering of voltage-gated sodium channels
- ERBB2-ERBB3 signaling pathway
- myelination in peripheral nervous system
- negative regulation of cell-matrix adhesion
- negative regulation of Rho protein signal transduction
- negative regulation of stress fiber assembly
- neuron projection development
- non-canonical Wnt signaling pathway
- osteoblast differentiation
- positive regulation of cell migration
- positive regulation of focal adhesion assembly
- positive regulation of JNK cascade
- positive regulation of mitochondrial depolarization
- positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
- positive regulation of stress fiber assembly
- positive regulation of substrate adhesion-dependent cell spreading
- regulation of MAPK cascade
- signal transduction
- skeletal muscle hypertrophy
Molecular functions
- fibronectin binding
- frizzled binding
- metal ion binding
- myosin light chain binding
- receptor tyrosine kinase binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MYOC in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MYOC as an antibody target. Whether an autoantibody or antibody against MYOC could matter depends on whether native MYOC is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MYOC is annotated as secreted, so native MYOC circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label MYOC as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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