Entity Details

Primary name MYOC_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ99972
EntryNameMYOC_HUMAN
FullNameMyocilin
TaxID9606
Evidenceevidence at protein level
Length504
SequenceStatuscomplete
DateCreated1998-07-15
DateModified2021-06-02

Ontological Relatives

GenesMYOC

GO terms

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GOName
GO:0001649 osteoblast differentiation
GO:0001953 negative regulation of cell-matrix adhesion
GO:0001968 fibronectin binding
GO:0005109 frizzled binding
GO:0005615 extracellular space
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:0014068 positive regulation of phosphatidylinositol 3-kinase signaling
GO:0014734 skeletal muscle hypertrophy
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:0043408 regulation of MAPK cascade
GO:0045162 clustering of voltage-gated sodium channels
GO:0046872 metal ion binding
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

Subcellular Location

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Subcellular Location
Cell projection
Cytoplasmic vesicle
Endoplasmic reticulum
Golgi apparatus
Mitochondrion
Mitochondrion inner membrane
Mitochondrion intermembrane space
Mitochondrion outer membrane
Rough endoplasmic reticulum
Secreted

Domains

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DomainNameCategoryType
IPR003112 Olfactomedin-like domainDomainDomain
IPR031213 MyocilinFamilyFamily

Diseases

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Disease IDSourceNameDescription
231300 OMIMGlaucoma 3, primary congenital, A (GLC3A)An 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. The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. MYOC mutations may contribute to GLC3A via digenic inheritance with CYP1B1 and/or another locus associated with the disease (PubMed:15733270).
137750 OMIMGlaucoma 1, open angle, A (GLC1A)A 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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

47 interactions

InteractorPartnerSourcesPublicationsLink
MYOC_HUMANSPRC_HUMANIntAct20926826 details
MYOC_HUMANSPRL1_HUMANIntAct20926826 details
MYOC_HUMANSGTA_HUMANBioGRID, IntAct32296183 details
MYOC_HUMANMLRV_HUMANHPRD, UniProt11773029 details
MYOC_HUMANMYOC_HUMANBioGRID, HPRD, UniProt11527946 11773029 16289162 details
MYOC_HUMANNOE3_HUMANBioGRID, HPRD12019210 details
MYOC_HUMANFBN1_HUMANBioGRID, HPRD11923248 details
MYOC_HUMANFINC_HUMANBioGRID, HPRD11773026 details
MYOC_HUMANPEDF_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANACTA_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANG3P_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANFRIL_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANACTB_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANACTG_HUMANBioGRID16289162 details
MYOC_HUMANCLIC1_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANCO1A2_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANCO3A1_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANA2MG_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANLAMA5_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANITA7_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANTIMP1_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANTGFR1_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANTNR1A_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANEF1A1_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANGLO2_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANFUBP1_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANLEG3_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANNOTC2_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANOLFL3_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANCD81_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANRFC1_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANKCRM_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANIGLL1_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANMAEA_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANECE1_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANC1QB_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANKPYM_HUMANBioGRID16289162 details
MYOC_HUMANTKT_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANCAP1_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANENOA_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANALDOA_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANANXA2_HUMANBioGRID, HPRD16289162 details
MYOC_HUMANKPYR_HUMANHPRD16289162 details
MYOC_HUMANVIME_HUMANBioGRID16289162 details
MYOC_HUMANMYH11_HUMANBioGRID16289162 details
MYOC_HUMANTPM1_HUMANBioGRID16289162 details
MYOC_HUMANHSP74_HUMANBioGRID16289162 details