Q99972 · MYOC_HUMAN
- ProteinMyocilin
- GeneMYOC
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids504 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
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.
Features
Showing features for site, binding site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Site | 226-227 | Cleavage; by CAPN2 | ||||
Sequence: RI | ||||||
Binding site | 380 | Ca2+ (UniProtKB | ChEBI) | ||||
Sequence: D | ||||||
Binding site | 428 | Ca2+ (UniProtKB | ChEBI) | ||||
Sequence: N | ||||||
Binding site | 429 | Ca2+ (UniProtKB | ChEBI) | ||||
Sequence: A | ||||||
Binding site | 477 | Ca2+ (UniProtKB | ChEBI) | ||||
Sequence: I | ||||||
Binding site | 478 | Ca2+ (UniProtKB | ChEBI) | ||||
Sequence: D |
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Keywords
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameMyocilin
- Alternative names
- Cleaved into 2 chains
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ99972
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Note: Located preferentially in the ciliary rootlet and basal body of the connecting cilium of photoreceptor cells, and in the rough endoplasmic reticulum (PubMed:9169133).
It is only imported to mitochondria in the trabecular meshwork (PubMed:17516541).
Localizes to the Golgi apparatus in Schlemm's canal endothelial cells (PubMed:11053284).
Appears in the extracellular space of trabecular meshwork cells by an unconventional mechanism, likely associated with exosome-like vesicles (PubMed:15944158).
Localizes in trabecular meshwork extracellular matrix (PubMed:15944158).
It is only imported to mitochondria in the trabecular meshwork (PubMed:17516541).
Localizes to the Golgi apparatus in Schlemm's canal endothelial cells (PubMed:11053284).
Appears in the extracellular space of trabecular meshwork cells by an unconventional mechanism, likely associated with exosome-like vesicles (PubMed:15944158).
Localizes in trabecular meshwork extracellular matrix (PubMed:15944158).
Myocilin, C-terminal fragment
Myocilin, N-terminal fragment
Note: Remains retained in the endoplasmic reticulum.
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Glaucoma 1, open angle, A (GLC1A)
- Note
- DescriptionA form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place.
- See alsoMIM:137750
Natural variants in GLC1A
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_054271 | 25 | C>R | in GLC1A; dbSNP:rs755246983 | |
VAR_054272 | 48 | Q>H | in GLC1A and GLC3A; the GLC3A patient also carries mutation H-368 in CYP1B1 suggesting digenic inheritance; dbSNP:rs74315339 | |
VAR_008969 | 53 | V>A | in GLC1A; dbSNP:rs200208925 | |
VAR_009671 | 82 | R>C | in GLC1A; dbSNP:rs764005392 | |
VAR_054277 | 126 | R>W | in GLC1A; dbSNP:rs200120115 | |
VAR_054278 | 158 | R>Q | in GLC1A; dbSNP:rs199746824 | |
VAR_014943 | 208 | D>E | in GLC1A; uncertain significance; dbSNP:rs2234927 | |
VAR_054280 | 244 | G>V | in GLC1A; uncertain significance; dbSNP:rs757769997 | |
VAR_054281 | 245 | C>Y | in GLC1A; forms homomultimeric complexes that migrate at molecular weights larger than their wild-type counterparts; these mutant complexes remain sequestered intracellularly; dbSNP:rs74315340 | |
VAR_005468 | 246 | G>R | in GLC1A; dbSNP:rs2102944873 | |
VAR_054282 | 251 | V>A | in GLC1A; dbSNP:rs2102944863 | |
VAR_054283 | 252 | G>R | in GLC1A; dbSNP:rs74315341 | |
VAR_054284 | 261 | E>K | in GLC1A; dbSNP:rs982896610 | |
VAR_054285 | 272 | R>G | in GLC1A; uncertain significance; dbSNP:rs202176570 | |
VAR_054286 | 274 | P>R | in GLC1A | |
VAR_009675 | 286 | W>R | in GLC1A; dbSNP:rs1351328951 | |
VAR_009676 | 293 | T>K | in GLC1A; no effect on protein stability; dbSNP:rs139122673 | |
VAR_054287 | 300 | E>K | in GLC1A; uncertain significance; dbSNP:rs748621461 | |
VAR_054288 | 323 | E>K | in GLC1A; inhibits endoproteolytic processing; mainly accumulates as insoluble aggregates inside the endoplasmic reticulum; dbSNP:rs1652924886 | |
VAR_054289 | 337 | Q>E | in GLC1A | |
VAR_005469 | 337 | Q>R | in GLC1A; dbSNP:rs74315335 | |
VAR_054290 | 341 | S>P | in GLC1A; dbSNP:rs1572210748 | |
VAR_054291 | 342 | R>K | in GLC1A | |
VAR_054292 | 345 | I>M | in GLC1A | |
VAR_009678 | 352 | E>K | in GLC1A; uncertain significance; dbSNP:rs61745146 | |
VAR_009679 | 353 | T>I | in GLC1A; uncertain significance; no significant effect on protein stability; dbSNP:rs137853277 | |
VAR_054293 | 360 | I>N | in GLC1A; dbSNP:rs1652920956 | |
VAR_009680 | 361 | P>S | in GLC1A; dbSNP:rs1344039930 | |
VAR_054294 | 363 | A>T | in GLC1A; dbSNP:rs2102944665 | |
VAR_005470 | 364 | G>V | in GLC1A; dbSNP:rs121909193 | |
VAR_005471 | 367 | G>R | in GLC1A; dbSNP:rs74315334 | |
VAR_054295 | 369 | F>L | in GLC1A | |
VAR_005472 | 370 | P>L | in GLC1A; severe form; inhibits endoproteolytic processing; produced the highest inhibition of the endoproteolytic processing; mainly accumulates as insoluble aggregates inside the endoplasmic reticulum; inhibits neurite outgrowth; dbSNP:rs74315330 | |
VAR_054296 | 377 | T>K | in GLC1A | |
VAR_009681 | 377 | T>M | in GLC1A; dbSNP:rs566289099 | |
VAR_009682 | 380 | D>A | in GLC1A; incomplete penetrance; inhibits endoproteolytic processing; mainly accumulates as insoluble aggregates inside the endoplasmic reticulum; dbSNP:rs2102944632 | |
VAR_009683 | 380 | D>G | in GLC1A; dbSNP:rs2102944632 | |
VAR_054297 | 380 | D>H | in GLC1A; dbSNP:rs121909194 | |
VAR_054298 | 380 | D>N | in GLC1A; dbSNP:rs121909194 | |
VAR_054299 | 393 | S>N | in GLC1A | |
VAR_009684 | 393 | S>R | in GLC1A; dbSNP:rs998968146 | |
VAR_054300 | 399 | G>V | in GLC1A; dbSNP:rs28936694 | |
VAR_009688 | 422 | R>H | in GLC1A; dbSNP:rs201573718 | |
VAR_009689 | 423 | K>E | in GLC1A; heterozygote specific phenotype; dbSNP:rs74315336 | |
VAR_005473 | 426 | V>F | in GLC1A; dbSNP:rs2102944566 | |
VAR_054302 | 427 | A>T | in GLC1A; dbSNP:rs754237376 | |
VAR_008970 | 433 | C>R | in GLC1A; severe form; dbSNP:rs74315338 | |
VAR_054303 | 434 | G>S | in GLC1A; dbSNP:rs1200513428 | |
VAR_005474 | 437 | Y>H | in GLC1A; dbSNP:rs74315328 | |
VAR_054304 | 438 | T>I | in GLC1A | |
VAR_009691 | 445 | A>V | in GLC1A; no effect on protein stability; dbSNP:rs140967767 | |
VAR_054305 | 448 | T>P | in GLC1A | |
VAR_054306 | 450 | N>D | in GLC1A | |
VAR_009692 | 465 | I>M | in GLC1A | |
VAR_009693 | 470 | R>C | in GLC1A; dbSNP:rs771122834 | |
VAR_054308 | 471 | Y>C | in GLC1A; uncertain significance; dbSNP:rs554235897 | |
VAR_009695 | 477 | I>N | in GLC1A; induces stress fiber formation in only 5% of cells; dbSNP:rs74315331 | |
VAR_005475 | 477 | I>S | in GLC1A; dbSNP:rs74315331 | |
VAR_005476 | 480 | N>K | in GLC1A; dbSNP:rs74315332 | |
VAR_009696 | 481 | P>L | in GLC1A; dbSNP:rs2102944466 | |
VAR_009697 | 481 | P>T | in GLC1A; dbSNP:rs763068244 | |
VAR_005477 | 499 | I>F | in GLC1A; dbSNP:rs2102944440 | |
VAR_054309 | 499 | I>S | in GLC1A; dbSNP:rs2102944438 | |
VAR_009700 | 502 | S>P | in GLC1A; dbSNP:rs2102944436 |
Glaucoma 3, primary congenital, A (GLC3A)
- Note
- DescriptionAn autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor.
- See alsoMIM:231300
Natural variants in GLC3A
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_054272 | 48 | Q>H | in GLC1A and GLC3A; the GLC3A patient also carries mutation H-368 in CYP1B1 suggesting digenic inheritance; dbSNP:rs74315339 |
Features
Showing features for natural variant, mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_009665 | 4 | in dbSNP:rs1653382909 | |||
Sequence: F → S | ||||||
Natural variant | VAR_009666 | 9 | ||||
Sequence: C → S | ||||||
Natural variant | VAR_009667 | 12 | in dbSNP:rs199752860 | |||
Sequence: G → R | ||||||
Natural variant | VAR_054269 | 16 | in dbSNP:rs745439002 | |||
Sequence: P → L | ||||||
Natural variant | VAR_054270 | 17 | ||||
Sequence: A → S | ||||||
Natural variant | VAR_009668 | 19 | in dbSNP:rs2234925 | |||
Sequence: Q → H | ||||||
Natural variant | VAR_054271 | 25 | in GLC1A; dbSNP:rs755246983 | |||
Sequence: C → R | ||||||
Natural variant | VAR_054272 | 48 | in GLC1A and GLC3A; the GLC3A patient also carries mutation H-368 in CYP1B1 suggesting digenic inheritance; dbSNP:rs74315339 | |||
Sequence: Q → H | ||||||
Natural variant | VAR_008969 | 53 | in GLC1A; dbSNP:rs200208925 | |||
Sequence: V → A | ||||||
Natural variant | VAR_054273 | 57 | ||||
Sequence: N → D | ||||||
Natural variant | VAR_054274 | 57 | loss of higher molecular weight isoform; dbSNP:rs561439247 | |||
Sequence: N → S | ||||||
Natural variant | VAR_009669 | 73 | ||||
Sequence: N → S | ||||||
Natural variant | VAR_009670 | 76 | in dbSNP:rs2234926 | |||
Sequence: R → K | ||||||
Natural variant | VAR_054275 | 77 | ||||
Sequence: D → E | ||||||
Natural variant | VAR_009671 | 82 | in GLC1A; dbSNP:rs764005392 | |||
Sequence: R → C | ||||||
Natural variant | VAR_009672 | 82 | in dbSNP:rs201552559 | |||
Sequence: R → H | ||||||
Natural variant | VAR_054276 | 95 | in dbSNP:rs2102951436 | |||
Sequence: L → P | ||||||
Natural variant | VAR_054277 | 126 | in GLC1A; dbSNP:rs200120115 | |||
Sequence: R → W | ||||||
Natural variant | VAR_054278 | 158 | in GLC1A; dbSNP:rs199746824 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_009673 | 189 | in dbSNP:rs144579767 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_009674 | 203 | in dbSNP:rs2102945654 | |||
Sequence: S → F | ||||||
Natural variant | VAR_014943 | 208 | in GLC1A; uncertain significance; dbSNP:rs2234927 | |||
Sequence: D → E | ||||||
Natural variant | VAR_054279 | 215 | in dbSNP:rs531050114 | |||
Sequence: L → P | ||||||
Mutagenesis | 226 | Reduced processing. Impairs endoproteolytic processing; when associated with A-229 or A-230. Completely processed after 6 days of expression, and releases a C-terminal fragment with similar electrophoretic mobility to that obtained by processing wild-type myocilin; when associated with A-229 or A-230. | ||||
Sequence: R → A | ||||||
Mutagenesis | 226 | Slightly increases endoproteolytic processing. | ||||
Sequence: R → Q | ||||||
Mutagenesis | 226-230 | Impairs endoproteolytic processing. | ||||
Sequence: Missing | ||||||
Mutagenesis | 227 | Reduced processing. | ||||
Sequence: I → G | ||||||
Mutagenesis | 229 | Completely blocks endoproteolytic processing; when associated with A-226. Completely processed after 6 days of expression, and releases a C-terminal fragment with similar electrophoretic mobility to that obtained by processing wild-type myocilin; when associated with A-226. | ||||
Sequence: K → A | ||||||
Mutagenesis | 230 | Impairs endoproteolytic processing; when associated with A-226. Completely processed after 6 days of expression, and released a C-terminal fragment with similar electrophoretic mobility to that obtained by processing wild-type myocilin; when associated with A-226. | ||||
Sequence: E → A | ||||||
Natural variant | VAR_054280 | 244 | in GLC1A; uncertain significance; dbSNP:rs757769997 | |||
Sequence: G → V | ||||||
Natural variant | VAR_054281 | 245 | in GLC1A; forms homomultimeric complexes that migrate at molecular weights larger than their wild-type counterparts; these mutant complexes remain sequestered intracellularly; dbSNP:rs74315340 | |||
Sequence: C → Y | ||||||
Natural variant | VAR_005468 | 246 | in GLC1A; dbSNP:rs2102944873 | |||
Sequence: G → R | ||||||
Natural variant | VAR_054282 | 251 | in GLC1A; dbSNP:rs2102944863 | |||
Sequence: V → A | ||||||
Natural variant | VAR_054283 | 252 | in GLC1A; dbSNP:rs74315341 | |||
Sequence: G → R | ||||||
Natural variant | VAR_054284 | 261 | in GLC1A; dbSNP:rs982896610 | |||
Sequence: E → K | ||||||
Natural variant | VAR_054285 | 272 | in GLC1A; uncertain significance; dbSNP:rs202176570 | |||
Sequence: R → G | ||||||
Natural variant | VAR_054286 | 274 | in GLC1A | |||
Sequence: P → R | ||||||
Natural variant | VAR_009675 | 286 | in GLC1A; dbSNP:rs1351328951 | |||
Sequence: W → R | ||||||
Natural variant | VAR_009676 | 293 | in GLC1A; no effect on protein stability; dbSNP:rs139122673 | |||
Sequence: T → K | ||||||
Natural variant | VAR_054287 | 300 | in GLC1A; uncertain significance; dbSNP:rs748621461 | |||
Sequence: E → K | ||||||
Natural variant | VAR_054288 | 323 | in GLC1A; inhibits endoproteolytic processing; mainly accumulates as insoluble aggregates inside the endoplasmic reticulum; dbSNP:rs1652924886 | |||
Sequence: E → K | ||||||
Natural variant | VAR_009677 | 329 | slightly decreased protein stability; dbSNP:rs146391864 | |||
Sequence: V → M | ||||||
Natural variant | VAR_054289 | 337 | in GLC1A | |||
Sequence: Q → E | ||||||
Natural variant | VAR_005469 | 337 | in GLC1A; dbSNP:rs74315335 | |||
Sequence: Q → R | ||||||
Natural variant | VAR_054290 | 341 | in GLC1A; dbSNP:rs1572210748 | |||
Sequence: S → P | ||||||
Natural variant | VAR_054291 | 342 | in GLC1A | |||
Sequence: R → K | ||||||
Natural variant | VAR_054292 | 345 | in GLC1A | |||
Sequence: I → M | ||||||
Natural variant | VAR_009678 | 352 | in GLC1A; uncertain significance; dbSNP:rs61745146 | |||
Sequence: E → K | ||||||
Natural variant | VAR_009679 | 353 | in GLC1A; uncertain significance; no significant effect on protein stability; dbSNP:rs137853277 | |||
Sequence: T → I | ||||||
Natural variant | VAR_054293 | 360 | in GLC1A; dbSNP:rs1652920956 | |||
Sequence: I → N | ||||||
Natural variant | VAR_009680 | 361 | in GLC1A; dbSNP:rs1344039930 | |||
Sequence: P → S | ||||||
Natural variant | VAR_054294 | 363 | in GLC1A; dbSNP:rs2102944665 | |||
Sequence: A → T | ||||||
Natural variant | VAR_005470 | 364 | in GLC1A; dbSNP:rs121909193 | |||
Sequence: G → V | ||||||
Natural variant | VAR_005471 | 367 | in GLC1A; dbSNP:rs74315334 | |||
Sequence: G → R | ||||||
Natural variant | VAR_054295 | 369 | in GLC1A | |||
Sequence: F → L | ||||||
Natural variant | VAR_005472 | 370 | in GLC1A; severe form; inhibits endoproteolytic processing; produced the highest inhibition of the endoproteolytic processing; mainly accumulates as insoluble aggregates inside the endoplasmic reticulum; inhibits neurite outgrowth; dbSNP:rs74315330 | |||
Sequence: P → L | ||||||
Natural variant | VAR_054296 | 377 | in GLC1A | |||
Sequence: T → K | ||||||
Natural variant | VAR_009681 | 377 | in GLC1A; dbSNP:rs566289099 | |||
Sequence: T → M | ||||||
Natural variant | VAR_009682 | 380 | in GLC1A; incomplete penetrance; inhibits endoproteolytic processing; mainly accumulates as insoluble aggregates inside the endoplasmic reticulum; dbSNP:rs2102944632 | |||
Sequence: D → A | ||||||
Natural variant | VAR_009683 | 380 | in GLC1A; dbSNP:rs2102944632 | |||
Sequence: D → G | ||||||
Natural variant | VAR_054297 | 380 | in GLC1A; dbSNP:rs121909194 | |||
Sequence: D → H | ||||||
Natural variant | VAR_054298 | 380 | in GLC1A; dbSNP:rs121909194 | |||
Sequence: D → N | ||||||
Natural variant | VAR_054299 | 393 | in GLC1A | |||
Sequence: S → N | ||||||
Natural variant | VAR_009684 | 393 | in GLC1A; dbSNP:rs998968146 | |||
Sequence: S → R | ||||||
Natural variant | VAR_009685 | 398 | in dbSNP:rs56314834 | |||
Sequence: K → R | ||||||
Natural variant | VAR_054300 | 399 | in GLC1A; dbSNP:rs28936694 | |||
Sequence: G → V | ||||||
Natural variant | VAR_009686 | 402 | ||||
Sequence: V → I | ||||||
Natural variant | VAR_054301 | 414 | in dbSNP:rs1351097164 | |||
Sequence: E → K | ||||||
Natural variant | VAR_009687 | 422 | no effect on protein stability; dbSNP:rs751113505 | |||
Sequence: R → C | ||||||
Natural variant | VAR_009688 | 422 | in GLC1A; dbSNP:rs201573718 | |||
Sequence: R → H | ||||||
Natural variant | VAR_009689 | 423 | in GLC1A; heterozygote specific phenotype; dbSNP:rs74315336 | |||
Sequence: K → E | ||||||
Natural variant | VAR_009690 | 425 | decreases protein stability | |||
Sequence: S → P | ||||||
Natural variant | VAR_005473 | 426 | in GLC1A; dbSNP:rs2102944566 | |||
Sequence: V → F | ||||||
Natural variant | VAR_054302 | 427 | in GLC1A; dbSNP:rs754237376 | |||
Sequence: A → T | ||||||
Natural variant | VAR_008970 | 433 | in GLC1A; severe form; dbSNP:rs74315338 | |||
Sequence: C → R | ||||||
Natural variant | VAR_054303 | 434 | in GLC1A; dbSNP:rs1200513428 | |||
Sequence: G → S | ||||||
Natural variant | VAR_005474 | 437 | in GLC1A; dbSNP:rs74315328 | |||
Sequence: Y → H | ||||||
Natural variant | VAR_054304 | 438 | in GLC1A | |||
Sequence: T → I | ||||||
Natural variant | VAR_009691 | 445 | in GLC1A; no effect on protein stability; dbSNP:rs140967767 | |||
Sequence: A → V | ||||||
Natural variant | VAR_054305 | 448 | in GLC1A | |||
Sequence: T → P | ||||||
Natural variant | VAR_054306 | 450 | in GLC1A | |||
Sequence: N → D | ||||||
Natural variant | VAR_009692 | 465 | in GLC1A | |||
Sequence: I → M | ||||||
Natural variant | VAR_009693 | 470 | in GLC1A; dbSNP:rs771122834 | |||
Sequence: R → C | ||||||
Natural variant | VAR_054307 | 470 | in dbSNP:rs750791099 | |||
Sequence: R → H | ||||||
Natural variant | VAR_054308 | 471 | in GLC1A; uncertain significance; dbSNP:rs554235897 | |||
Sequence: Y → C | ||||||
Natural variant | VAR_009694 | 473 | no effect on protein stability | |||
Sequence: Y → C | ||||||
Natural variant | VAR_009695 | 477 | in GLC1A; induces stress fiber formation in only 5% of cells; dbSNP:rs74315331 | |||
Sequence: I → N | ||||||
Natural variant | VAR_005475 | 477 | in GLC1A; dbSNP:rs74315331 | |||
Sequence: I → S | ||||||
Natural variant | VAR_005476 | 480 | in GLC1A; dbSNP:rs74315332 | |||
Sequence: N → K | ||||||
Natural variant | VAR_009696 | 481 | in GLC1A; dbSNP:rs2102944466 | |||
Sequence: P → L | ||||||
Natural variant | VAR_009697 | 481 | in GLC1A; dbSNP:rs763068244 | |||
Sequence: P → T | ||||||
Natural variant | VAR_009698 | 495 | in dbSNP:rs2102944447 | |||
Sequence: V → I | ||||||
Natural variant | VAR_005477 | 499 | in GLC1A; dbSNP:rs2102944440 | |||
Sequence: I → F | ||||||
Natural variant | VAR_054309 | 499 | in GLC1A; dbSNP:rs2102944438 | |||
Sequence: I → S | ||||||
Natural variant | VAR_009699 | 500 | in dbSNP:rs145977437 | |||
Sequence: K → R | ||||||
Natural variant | VAR_009700 | 502 | in GLC1A; dbSNP:rs2102944436 | |||
Sequence: S → P |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 629 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for signal, chain, glycosylation, disulfide bond.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Signal | 1-32 | |||||
Sequence: MRFFCARCCSFGPEMPAVQLLLLACLVWDVGA | ||||||
Chain | PRO_0000428749 | 33-226 | Myocilin, N-terminal fragment | |||
Sequence: RTAQLRKANDQSGRCQYTFSVASPNESSCPEQSQAMSVIHNLQRDSSTQRLDLEATKARLSSLESLLHQLTLDQAARPQETQEGLQRELGTLRRERDQLETQTRELETAYSNLLRDKSVLEEEKKRLRQENENLARRLESSSQEVARLRRGQCPQTRDTARAVPPGSREVSTWNLDTLAFQELKSELTEVPASR | ||||||
Chain | PRO_0000020084 | 33-504 | Myocilin | |||
Sequence: RTAQLRKANDQSGRCQYTFSVASPNESSCPEQSQAMSVIHNLQRDSSTQRLDLEATKARLSSLESLLHQLTLDQAARPQETQEGLQRELGTLRRERDQLETQTRELETAYSNLLRDKSVLEEEKKRLRQENENLARRLESSSQEVARLRRGQCPQTRDTARAVPPGSREVSTWNLDTLAFQELKSELTEVPASRILKESPSGYLRSGEGDTGCGELVWVGEPLTLRTAETITGKYGVWMRDPKPTYPYTQETTWRIDTVGTDVRQVFEYDLISQFMQGYPSKVHILPRPLESTGAVVYSGSLYFQGAESRTVIRYELNTETVKAEKEIPGAGYHGQFPYSWGGYTDIDLAVDEAGLWVIYSTDEAKGAIVLSKLNPENLELEQTWETNIRKQSVANAFIICGTLYTVSSYTSADATVNFAYDTGTGISKTLTIPFKNRYKYSSMIDYNPLEKKLFAWDNLNMVTYDIKLSKM | ||||||
Glycosylation | 57 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Chain | PRO_0000428750 | 227-504 | Myocilin, C-terminal fragment | |||
Sequence: ILKESPSGYLRSGEGDTGCGELVWVGEPLTLRTAETITGKYGVWMRDPKPTYPYTQETTWRIDTVGTDVRQVFEYDLISQFMQGYPSKVHILPRPLESTGAVVYSGSLYFQGAESRTVIRYELNTETVKAEKEIPGAGYHGQFPYSWGGYTDIDLAVDEAGLWVIYSTDEAKGAIVLSKLNPENLELEQTWETNIRKQSVANAFIICGTLYTVSSYTSADATVNFAYDTGTGISKTLTIPFKNRYKYSSMIDYNPLEKKLFAWDNLNMVTYDIKLSKM | ||||||
Disulfide bond | 245↔433 | |||||
Sequence: CGELVWVGEPLTLRTAETITGKYGVWMRDPKPTYPYTQETTWRIDTVGTDVRQVFEYDLISQFMQGYPSKVHILPRPLESTGAVVYSGSLYFQGAESRTVIRYELNTETVKAEKEIPGAGYHGQFPYSWGGYTDIDLAVDEAGLWVIYSTDEAKGAIVLSKLNPENLELEQTWETNIRKQSVANAFIIC |
Post-translational modification
Different isoforms may arise by post-translational modifications.
Glycosylated.
Palmitoylated.
Undergoes a calcium-dependent proteolytic cleavage at Arg-226 by CAPN2 in the endoplasmic reticulum. The result is the production of two fragments, one of 35 kDa containing the C-terminal olfactomedin-like domain, and another of 20 kDa containing the N-terminal leucine zipper-like domain.
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Detected in aqueous humor (PubMed:12697062).
Detected in the eye (at protein level) (PubMed:11431441).
Widely expressed. Highly expressed in various types of muscle, ciliary body, papillary sphincter, skeletal muscle, heart, and bone marrow-derived mesenchymal stem cells. Expressed predominantly in the retina. In normal eyes, found in the inner uveal meshwork region and the anterior portion of the meshwork. In contrast, in many glaucomatous eyes, it is found in more regions of the meshwork and seems to be expressed at higher levels than in normal eyes, regardless of the type or clinical severity of glaucoma. The myocilin 35 kDa fragment is detected in aqueous humor and to a lesser extent in iris and ciliary body
Detected in the eye (at protein level) (PubMed:11431441).
Widely expressed. Highly expressed in various types of muscle, ciliary body, papillary sphincter, skeletal muscle, heart, and bone marrow-derived mesenchymal stem cells. Expressed predominantly in the retina. In normal eyes, found in the inner uveal meshwork region and the anterior portion of the meshwork. In contrast, in many glaucomatous eyes, it is found in more regions of the meshwork and seems to be expressed at higher levels than in normal eyes, regardless of the type or clinical severity of glaucoma. The myocilin 35 kDa fragment is detected in aqueous humor and to a lesser extent in iris and ciliary body
Induction
Up-regulated by dexamethasone, a glucocorticoid.
Gene expression databases
Organism-specific databases
Interaction
Subunit
Homodimer (via N-terminus). Can also form higher oligomers (PubMed:9497363).
Interacts with OLFM3, FN1, NRCAM, GLDN and NFASC (PubMed:11773026, PubMed:12019210, PubMed:23897819).
Interacts (via N-terminus) with MYL2 (PubMed:11773029).
Interacts with SFRP1, FRZB, FZD7, FZD10, FZD1 and WIF1; regulates Wnt signaling (PubMed:19188438).
Interacts with SNTA1; regulates muscle hypertrophy. Interacts with ERBB2 and ERBB3; activates ERBB2-ERBB3 signaling pathway. Interacts with SNCG; affects its secretion and its aggregation (By similarity).
Interacts with OLFM3, FN1, NRCAM, GLDN and NFASC (PubMed:11773026, PubMed:12019210, PubMed:23897819).
Interacts (via N-terminus) with MYL2 (PubMed:11773029).
Interacts with SFRP1, FRZB, FZD7, FZD10, FZD1 and WIF1; regulates Wnt signaling (PubMed:19188438).
Interacts with SNTA1; regulates muscle hypertrophy. Interacts with ERBB2 and ERBB3; activates ERBB2-ERBB3 signaling pathway. Interacts with SNCG; affects its secretion and its aggregation (By similarity).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q99972 | MYL2 P10916 | 7 | EBI-11692272, EBI-725770 | |
BINARY | Q99972 | SGTA O43765 | 3 | EBI-11692272, EBI-347996 | |
BINARY | Q99972 | SPARC P09486 | 3 | EBI-11692272, EBI-2800983 | |
BINARY | Q99972 | SPARCL1 Q14515 | 2 | EBI-11692272, EBI-2682673 |
Protein-protein interaction databases
Chemistry
Miscellaneous
Structure
Family & Domains
Features
Showing features for coiled coil, region, domain, motif.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Coiled coil | 74-184 | |||||
Sequence: LQRDSSTQRLDLEATKARLSSLESLLHQLTLDQAARPQETQEGLQRELGTLRRERDQLETQTRELETAYSNLLRDKSVLEEEKKRLRQENENLARRLESSSQEVARLRRGQ | ||||||
Region | 106-131 | Disordered | ||||
Sequence: QAARPQETQEGLQRELGTLRRERDQL | ||||||
Region | 170-200 | Disordered | ||||
Sequence: LESSSQEVARLRRGQCPQTRDTARAVPPGSR | ||||||
Domain | 244-503 | Olfactomedin-like | ||||
Sequence: GCGELVWVGEPLTLRTAETITGKYGVWMRDPKPTYPYTQETTWRIDTVGTDVRQVFEYDLISQFMQGYPSKVHILPRPLESTGAVVYSGSLYFQGAESRTVIRYELNTETVKAEKEIPGAGYHGQFPYSWGGYTDIDLAVDEAGLWVIYSTDEAKGAIVLSKLNPENLELEQTWETNIRKQSVANAFIICGTLYTVSSYTSADATVNFAYDTGTGISKTLTIPFKNRYKYSSMIDYNPLEKKLFAWDNLNMVTYDIKLSK | ||||||
Motif | 502-504 | Microbody targeting signal | ||||
Sequence: SKM |
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
- Length504
- Mass (Da)56,972
- Last updated1998-01-01 v2
- Checksum9588C04F1D227623
Computationally mapped potential isoform sequences
There is 1 potential isoform mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A1W2PP09 | A0A1W2PP09_HUMAN | MYOC | 63 |
Sequence caution
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF001620 EMBL· GenBank· DDBJ | AAC51725.1 EMBL· GenBank· DDBJ | mRNA | ||
D88214 EMBL· GenBank· DDBJ | BAA23531.1 EMBL· GenBank· DDBJ | mRNA | ||
Z97171 EMBL· GenBank· DDBJ | CAB09899.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
Z97177 EMBL· GenBank· DDBJ | CAB09899.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
Z97174 EMBL· GenBank· DDBJ | CAB09899.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
U85257 EMBL· GenBank· DDBJ | AAC52051.1 EMBL· GenBank· DDBJ | mRNA | ||
AB006688 EMBL· GenBank· DDBJ | BAA24532.1 EMBL· GenBank· DDBJ | Genomic DNA | Different initiation | |
AF049793 EMBL· GenBank· DDBJ | AAC14264.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF049791 EMBL· GenBank· DDBJ | AAC14264.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF049792 EMBL· GenBank· DDBJ | AAC14264.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AK315443 EMBL· GenBank· DDBJ | BAG37831.1 EMBL· GenBank· DDBJ | mRNA | ||
Z98750 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471067 EMBL· GenBank· DDBJ | EAW90903.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC029261 EMBL· GenBank· DDBJ | AAH29261.1 EMBL· GenBank· DDBJ | mRNA |