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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
1
Cytoband
q24.3
Chromosome location (bp)
171635417 - 171652688
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Secreted glycoprotein regulating the activation of different signaling pathways in adjacent cells to control different processes including cell adhesion, cell-matrix adhesion, cytoskeleton organization and cell migration. Promotes substrate adhesion, spreading and formation of focal contacts. Negatively regulates cell-matrix adhesion and stress fiber assembly through Rho protein signal transduction. Modulates the organization of actin cytoskeleton by stimulating the formation of stress fibers through interactions with components of Wnt signaling pathways. Promotes cell migration through activation of PTK2 and the downstream phosphatidylinositol 3-kinase signaling. Plays a role in bone formation and promotes osteoblast differentiation in a dose-dependent manner through mitogen-activated protein kinase signaling. Mediates myelination in the peripheral nervous system through ERBB2/ERBB3 signaling. Plays a role as a regulator of muscle hypertrophy through the components of dystrophin-associated protein complex. Involved in positive regulation of mitochondrial depolarization. Plays a role in neurite outgrowth. May participate in the obstruction of fluid outflow in the trabecular meshwork....show less
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Calcium, Metal-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
THUMBUP predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Plasma proteins Disease related genes Human disease related genes Nervous system diseases Eye disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001649[osteoblast differentiation] GO:0001952[regulation of cell-matrix adhesion] GO:0001953[negative regulation of cell-matrix adhesion] GO:0001968[fibronectin binding] GO:0005109[frizzled binding] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005743[mitochondrial inner membrane] GO:0005758[mitochondrial intermembrane space] GO:0005783[endoplasmic reticulum] GO:0005791[rough endoplasmic reticulum] GO:0005794[Golgi apparatus] GO:0005929[cilium] GO:0007165[signal transduction] GO:0014068[positive regulation of phosphatidylinositol 3-kinase signaling] GO:0014734[skeletal muscle hypertrophy] GO:0016020[membrane] GO:0022011[myelination in peripheral nervous system] GO:0030335[positive regulation of cell migration] GO:0030971[receptor tyrosine kinase binding] GO:0031175[neuron projection development] GO:0031410[cytoplasmic vesicle] GO:0032027[myosin light chain binding] GO:0033268[node of Ranvier] GO:0035024[negative regulation of Rho protein signal transduction] GO:0038031[non-canonical Wnt signaling pathway via JNK cascade] GO:0038133[ERBB2-ERBB3 signaling pathway] GO:0042995[cell projection] GO:0043408[regulation of MAPK cascade] GO:0045162[clustering of voltage-gated sodium channels] GO:0046872[metal ion binding] GO:0051492[regulation of stress fiber assembly] GO:0051496[positive regulation of stress fiber assembly] GO:0051497[negative regulation of stress fiber assembly] GO:0051894[positive regulation of focal adhesion assembly] GO:0051897[positive regulation of protein kinase B signaling] GO:0051901[positive regulation of mitochondrial depolarization] GO:0060348[bone development] GO:0062023[collagen-containing extracellular matrix] GO:0070062[extracellular exosome] GO:1900026[positive regulation of substrate adhesion-dependent cell spreading]
The Human Protein Atlas project is funded
