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Protein

Myocilin

Gene

MYOC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.By similarity8 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi380CalciumCombined sources1
Metal bindingi428CalciumCombined sources1
Metal bindingi429Calcium; via carbonyl oxygenCombined sources1
Metal bindingi477Calcium; via carbonyl oxygenCombined sources1
Metal bindingi478CalciumCombined sources1

GO - Molecular functioni

GO - Biological processi

Keywordsi

LigandCalcium, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Myocilin1 Publication
Alternative name(s):
Myocilin 55 kDa subunit
Trabecular meshwork-induced glucocorticoid response protein1 Publication
Cleaved into the following 2 chains:
Alternative name(s):
Myocilin 20 kDa N-terminal fragment
Alternative name(s):
Myocilin 35 kDa N-terminal fragment
Gene namesi
Name:MYOC
Synonyms:GLC1A, TIGR1 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000034971.14
HGNCiHGNC:7610 MYOC
MIMi601652 gene
neXtProtiNX_Q99972

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasmic vesicle, Endoplasmic reticulum, Extracellular matrix, Golgi apparatus, Membrane, Mitochondrion, Mitochondrion inner membrane, Mitochondrion outer membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Glaucoma 1, open angle, A (GLC1A)36 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease 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 also OMIM:137750
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05427125C → R in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs755246983Ensembl.1
Natural variantiVAR_00896953V → A in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs200208925Ensembl.1
Natural variantiVAR_00967182R → C in GLC1A. Corresponds to variant dbSNP:rs764005392Ensembl.1
Natural variantiVAR_054277126R → W in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs200120115Ensembl.1
Natural variantiVAR_054278158R → Q in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs199746824Ensembl.1
Natural variantiVAR_014943208D → E in GLC1A; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs2234927Ensembl.1
Natural variantiVAR_054280244G → V in GLC1A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs757769997Ensembl.1
Natural variantiVAR_054281245C → Y in GLC1A; forms homomultimeric complexes that migrate at molecular weights larger than their wild-type counterparts; these mutant complexes remain sequestered intracellularly. 1 PublicationCorresponds to variant dbSNP:rs74315340EnsemblClinVar.1
Natural variantiVAR_005468246G → R in GLC1A. 1 Publication1
Natural variantiVAR_054282251V → A in GLC1A. 1 Publication1
Natural variantiVAR_054283252G → R in GLC1A. 4 PublicationsCorresponds to variant dbSNP:rs74315341EnsemblClinVar.1
Natural variantiVAR_054284261E → K in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs982896610Ensembl.1
Natural variantiVAR_054285272R → G in GLC1A; unknown pathological significance. 1 Publication1
Natural variantiVAR_054286274P → R in GLC1A. 1 Publication1
Natural variantiVAR_009675286W → R in GLC1A. Corresponds to variant dbSNP:rs1351328951Ensembl.1
Natural variantiVAR_009676293T → K in GLC1A; no effect on protein stability. 3 PublicationsCorresponds to variant dbSNP:rs139122673Ensembl.1
Natural variantiVAR_054287300E → K in GLC1A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs748621461Ensembl.1
Natural variantiVAR_054288323E → K in GLC1A; inhibits endoproteolytic processing; mainly accumulates as insoluble aggregates inside the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_054289337Q → E in GLC1A. 1 Publication1
Natural variantiVAR_005469337Q → R in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs74315335EnsemblClinVar.1
Natural variantiVAR_054290341S → P in GLC1A. 1 Publication1
Natural variantiVAR_054291342R → K in GLC1A. 1 Publication1
Natural variantiVAR_054292345I → M in GLC1A. 1 Publication1
Natural variantiVAR_009678352E → K in GLC1A; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs61745146Ensembl.1
Natural variantiVAR_009679353T → I in GLC1A; unknown pathological significance; no significant effect on protein stability. 4 PublicationsCorresponds to variant dbSNP:rs137853277Ensembl.1
Natural variantiVAR_054293360I → N in GLC1A. 2 Publications1
Natural variantiVAR_009680361P → S in GLC1A. Corresponds to variant dbSNP:rs1344039930Ensembl.1
Natural variantiVAR_054294363A → T in GLC1A. 2 Publications1
Natural variantiVAR_005470364G → V in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs121909193EnsemblClinVar.1
Natural variantiVAR_005471367G → R in GLC1A. 7 PublicationsCorresponds to variant dbSNP:rs74315334EnsemblClinVar.1
Natural variantiVAR_054295369F → L in GLC1A. 1 Publication1
Natural variantiVAR_005472370P → 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. 9 PublicationsCorresponds to variant dbSNP:rs74315330EnsemblClinVar.1
Natural variantiVAR_054296377T → K in GLC1A. 1 Publication1
Natural variantiVAR_009681377T → M in GLC1A. 2 PublicationsCorresponds to variant dbSNP:rs566289099Ensembl.1
Natural variantiVAR_009682380D → A in GLC1A; incomplete penetrance; inhibits endoproteolytic processing; mainly accumulates as insoluble aggregates inside the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_009683380D → G in GLC1A. 1 Publication1
Natural variantiVAR_054297380D → H in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs121909194EnsemblClinVar.1
Natural variantiVAR_054298380D → N in GLC1A. 1 Publication1
Natural variantiVAR_054299393S → N in GLC1A. 1 Publication1
Natural variantiVAR_009684393S → R in GLC1A. Corresponds to variant dbSNP:rs998968146Ensembl.1
Natural variantiVAR_054300399G → V in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs28936694EnsemblClinVar.1
Natural variantiVAR_009688422R → H in GLC1A. Corresponds to variant dbSNP:rs201573718Ensembl.1
Natural variantiVAR_009689423K → E in GLC1A; heterozygote specific phenotype. 3 PublicationsCorresponds to variant dbSNP:rs74315336EnsemblClinVar.1
Natural variantiVAR_005473426V → F in GLC1A. 2 Publications1
Natural variantiVAR_054302427A → T in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs754237376Ensembl.1
Natural variantiVAR_008970433C → R in GLC1A; severe form. 1 PublicationCorresponds to variant dbSNP:rs74315338EnsemblClinVar.1
Natural variantiVAR_054303434G → S in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs1200513428Ensembl.1
Natural variantiVAR_005474437Y → H in GLC1A. 2 PublicationsCorresponds to variant dbSNP:rs74315328EnsemblClinVar.1
Natural variantiVAR_054304438T → I in GLC1A. 1 Publication1
Natural variantiVAR_009691445A → V in GLC1A; no effect on protein stability. 3 PublicationsCorresponds to variant dbSNP:rs140967767Ensembl.1
Natural variantiVAR_054305448T → P in GLC1A. 2 Publications1
Natural variantiVAR_054306450N → D in GLC1A. 1 Publication1
Natural variantiVAR_009692465I → M in GLC1A. 1
Natural variantiVAR_009693470R → C in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs771122834Ensembl.1
Natural variantiVAR_054308471Y → C in GLC1A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs554235897Ensembl.1
Natural variantiVAR_009695477I → N in GLC1A; induces stress fiber formation in only 5% of cells. 2 PublicationsCorresponds to variant dbSNP:rs74315331EnsemblClinVar.1
Natural variantiVAR_005475477I → S in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs74315331EnsemblClinVar.1
Natural variantiVAR_005476480N → K in GLC1A. 2 PublicationsCorresponds to variant dbSNP:rs74315332EnsemblClinVar.1
Natural variantiVAR_009696481P → L in GLC1A. 1 Publication1
Natural variantiVAR_009697481P → T in GLC1A. 1
Natural variantiVAR_005477499I → F in GLC1A. 2 Publications1
Natural variantiVAR_054309499I → S in GLC1A. 1 Publication1
Natural variantiVAR_009700502S → P in GLC1A. 1 Publication1
Glaucoma 3, primary congenital, A (GLC3A)1 Publication
The disease is caused by mutations 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).1 Publication
Disease 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 also OMIM:231300

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi226 – 230Missing : Impairs endoproteolytic processing. 1 Publication5
Mutagenesisi226R → A: 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. 1 Publication1
Mutagenesisi226R → Q: Slightly increases endoproteolytic processing. 1 Publication1
Mutagenesisi227I → G: Reduced processing. 1 Publication1
Mutagenesisi229K → A: 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. 1 Publication1
Mutagenesisi230E → A: 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. 1 Publication1

Keywords - Diseasei

Disease mutation, Glaucoma

Organism-specific databases

DisGeNETi4653
MalaCardsiMYOC
MIMi137750 phenotype
231300 phenotype
OpenTargetsiENSG00000034971
Orphaneti98976 Congenital glaucoma
98977 Juvenile glaucoma
PharmGKBiPA31415

Polymorphism and mutation databases

BioMutaiMYOC
DMDMi3024209

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 322 PublicationsAdd BLAST32
ChainiPRO_000002008433 – 504MyocilinAdd BLAST472
ChainiPRO_000042874933 – 226Myocilin, N-terminal fragmentAdd BLAST194
ChainiPRO_0000428750227 – 504Myocilin, C-terminal fragmentAdd BLAST278

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi57N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi245 ↔ 433PROSITE-ProRule annotationCombined sources1 Publication

Post-translational modificationi

Different isoforms may arise by post-translational modifications.1 Publication
Glycosylated.4 Publications
Palmitoylated.By similarity
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.2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei226 – 227Cleavage; by CAPN22

Keywords - PTMi

Disulfide bond, Glycoprotein, Lipoprotein, Palmitate

Proteomic databases

EPDiQ99972
PaxDbiQ99972
PeptideAtlasiQ99972
PRIDEiQ99972
ProteomicsDBi78558

PTM databases

iPTMnetiQ99972
PhosphoSitePlusiQ99972

Expressioni

Tissue specificityi

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.3 Publications

Inductioni

Up-regulated by dexamethasone, a glucocorticoid.2 Publications

Gene expression databases

BgeeiENSG00000034971 Expressed in 145 organ(s), highest expression level in mucosa of stomach
CleanExiHS_MYOC
ExpressionAtlasiQ99972 baseline and differential
GenevisibleiQ99972 HS

Organism-specific databases

HPAiHPA027364

Interactioni

Subunit structurei

Homodimer (via N-terminus). Can also form higher oligomers (PubMed:9497363). Interacts with OLFM3, FN1, NRCAM, GLDN and NFASC (PubMed:12019210, PubMed:11773026, 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; acivates ERBB2-ERBB3 signaling pathway. Interacts with SNCG; affects its secretion and its aggregation (By similarity).By similarity6 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi110736, 43 interactors
IntActiQ99972, 4 interactors
STRINGi9606.ENSP00000037502

Structurei

Secondary structure

1504
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ99972
SMRiQ99972
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini244 – 503Olfactomedin-likePROSITE-ProRule annotationAdd BLAST260

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili74 – 184Sequence analysisAdd BLAST111

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi502 – 504Microbody targeting signalSequence analysis3

Keywords - Domaini

Coiled coil, Signal

Phylogenomic databases

eggNOGiENOG410INPA Eukaryota
ENOG410YBJJ LUCA
GeneTreeiENSGT00760000119005
HOGENOMiHOG000059654
HOVERGENiHBG105662
InParanoidiQ99972
OMAiRYKYSSM
OrthoDBiEOG091G05HN
PhylomeDBiQ99972
TreeFamiTF315964

Family and domain databases

InterProiView protein in InterPro
IPR031213 Myocilin
IPR003112 Olfac-like_dom
PANTHERiPTHR23192:SF33 PTHR23192:SF33, 1 hit
PfamiView protein in Pfam
PF02191 OLF, 1 hit
SMARTiView protein in SMART
SM00284 OLF, 1 hit
PROSITEiView protein in PROSITE
PS51132 OLF, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q99972-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRFFCARCCS FGPEMPAVQL LLLACLVWDV GARTAQLRKA NDQSGRCQYT
60 70 80 90 100
FSVASPNESS CPEQSQAMSV IHNLQRDSST QRLDLEATKA RLSSLESLLH
110 120 130 140 150
QLTLDQAARP QETQEGLQRE LGTLRRERDQ LETQTRELET AYSNLLRDKS
160 170 180 190 200
VLEEEKKRLR QENENLARRL ESSSQEVARL RRGQCPQTRD TARAVPPGSR
210 220 230 240 250
EVSTWNLDTL AFQELKSELT EVPASRILKE SPSGYLRSGE GDTGCGELVW
260 270 280 290 300
VGEPLTLRTA ETITGKYGVW MRDPKPTYPY TQETTWRIDT VGTDVRQVFE
310 320 330 340 350
YDLISQFMQG YPSKVHILPR PLESTGAVVY SGSLYFQGAE SRTVIRYELN
360 370 380 390 400
TETVKAEKEI PGAGYHGQFP YSWGGYTDID LAVDEAGLWV IYSTDEAKGA
410 420 430 440 450
IVLSKLNPEN LELEQTWETN IRKQSVANAF IICGTLYTVS SYTSADATVN
460 470 480 490 500
FAYDTGTGIS KTLTIPFKNR YKYSSMIDYN PLEKKLFAWD NLNMVTYDIK

LSKM
Length:504
Mass (Da):56,972
Last modified:January 1, 1998 - v2
Checksum:i9588C04F1D227623
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1W2PP09A0A1W2PP09_HUMAN
Myocilin
MYOC
63Annotation score:

Sequence cautioni

The sequence BAA24532 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0096654F → S. 1
Natural variantiVAR_0096669C → S. 1
Natural variantiVAR_00966712G → R2 PublicationsCorresponds to variant dbSNP:rs199752860Ensembl.1
Natural variantiVAR_05426916P → L1 PublicationCorresponds to variant dbSNP:rs745439002Ensembl.1
Natural variantiVAR_05427017A → S1 Publication1
Natural variantiVAR_00966819Q → H1 PublicationCorresponds to variant dbSNP:rs2234925Ensembl.1
Natural variantiVAR_05427125C → R in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs755246983Ensembl.1
Natural variantiVAR_05427248Q → H in GLC1A and GLC3A; the GLC3A patient also carries mutation H-368 in CYP1B1 suggesting digenic inheritance. 2 PublicationsCorresponds to variant dbSNP:rs74315339EnsemblClinVar.1
Natural variantiVAR_00896953V → A in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs200208925Ensembl.1
Natural variantiVAR_05427357N → D1 Publication1
Natural variantiVAR_05427457N → S Loss of higher molecular weight isoform. 2 PublicationsCorresponds to variant dbSNP:rs561439247Ensembl.1
Natural variantiVAR_00966973N → S. 1
Natural variantiVAR_00967076R → K9 PublicationsCorresponds to variant dbSNP:rs2234926EnsemblClinVar.1
Natural variantiVAR_05427577D → E1 Publication1
Natural variantiVAR_00967182R → C in GLC1A. Corresponds to variant dbSNP:rs764005392Ensembl.1
Natural variantiVAR_00967282R → H. Corresponds to variant dbSNP:rs201552559Ensembl.1
Natural variantiVAR_05427695L → P1 Publication1
Natural variantiVAR_054277126R → W in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs200120115Ensembl.1
Natural variantiVAR_054278158R → Q in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs199746824Ensembl.1
Natural variantiVAR_009673189R → Q. Corresponds to variant dbSNP:rs144579767Ensembl.1
Natural variantiVAR_009674203S → F. 1
Natural variantiVAR_014943208D → E in GLC1A; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs2234927Ensembl.1
Natural variantiVAR_054279215L → P1 PublicationCorresponds to variant dbSNP:rs531050114Ensembl.1
Natural variantiVAR_054280244G → V in GLC1A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs757769997Ensembl.1
Natural variantiVAR_054281245C → Y in GLC1A; forms homomultimeric complexes that migrate at molecular weights larger than their wild-type counterparts; these mutant complexes remain sequestered intracellularly. 1 PublicationCorresponds to variant dbSNP:rs74315340EnsemblClinVar.1
Natural variantiVAR_005468246G → R in GLC1A. 1 Publication1
Natural variantiVAR_054282251V → A in GLC1A. 1 Publication1
Natural variantiVAR_054283252G → R in GLC1A. 4 PublicationsCorresponds to variant dbSNP:rs74315341EnsemblClinVar.1
Natural variantiVAR_054284261E → K in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs982896610Ensembl.1
Natural variantiVAR_054285272R → G in GLC1A; unknown pathological significance. 1 Publication1
Natural variantiVAR_054286274P → R in GLC1A. 1 Publication1
Natural variantiVAR_009675286W → R in GLC1A. Corresponds to variant dbSNP:rs1351328951Ensembl.1
Natural variantiVAR_009676293T → K in GLC1A; no effect on protein stability. 3 PublicationsCorresponds to variant dbSNP:rs139122673Ensembl.1
Natural variantiVAR_054287300E → K in GLC1A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs748621461Ensembl.1
Natural variantiVAR_054288323E → K in GLC1A; inhibits endoproteolytic processing; mainly accumulates as insoluble aggregates inside the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_009677329V → M Slightly decreased protein stability. 2 PublicationsCorresponds to variant dbSNP:rs146391864Ensembl.1
Natural variantiVAR_054289337Q → E in GLC1A. 1 Publication1
Natural variantiVAR_005469337Q → R in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs74315335EnsemblClinVar.1
Natural variantiVAR_054290341S → P in GLC1A. 1 Publication1
Natural variantiVAR_054291342R → K in GLC1A. 1 Publication1
Natural variantiVAR_054292345I → M in GLC1A. 1 Publication1
Natural variantiVAR_009678352E → K in GLC1A; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs61745146Ensembl.1
Natural variantiVAR_009679353T → I in GLC1A; unknown pathological significance; no significant effect on protein stability. 4 PublicationsCorresponds to variant dbSNP:rs137853277Ensembl.1
Natural variantiVAR_054293360I → N in GLC1A. 2 Publications1
Natural variantiVAR_009680361P → S in GLC1A. Corresponds to variant dbSNP:rs1344039930Ensembl.1
Natural variantiVAR_054294363A → T in GLC1A. 2 Publications1
Natural variantiVAR_005470364G → V in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs121909193EnsemblClinVar.1
Natural variantiVAR_005471367G → R in GLC1A. 7 PublicationsCorresponds to variant dbSNP:rs74315334EnsemblClinVar.1
Natural variantiVAR_054295369F → L in GLC1A. 1 Publication1
Natural variantiVAR_005472370P → 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. 9 PublicationsCorresponds to variant dbSNP:rs74315330EnsemblClinVar.1
Natural variantiVAR_054296377T → K in GLC1A. 1 Publication1
Natural variantiVAR_009681377T → M in GLC1A. 2 PublicationsCorresponds to variant dbSNP:rs566289099Ensembl.1
Natural variantiVAR_009682380D → A in GLC1A; incomplete penetrance; inhibits endoproteolytic processing; mainly accumulates as insoluble aggregates inside the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_009683380D → G in GLC1A. 1 Publication1
Natural variantiVAR_054297380D → H in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs121909194EnsemblClinVar.1
Natural variantiVAR_054298380D → N in GLC1A. 1 Publication1
Natural variantiVAR_054299393S → N in GLC1A. 1 Publication1
Natural variantiVAR_009684393S → R in GLC1A. Corresponds to variant dbSNP:rs998968146Ensembl.1
Natural variantiVAR_009685398K → R5 PublicationsCorresponds to variant dbSNP:rs56314834EnsemblClinVar.1
Natural variantiVAR_054300399G → V in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs28936694EnsemblClinVar.1
Natural variantiVAR_009686402V → I. 1
Natural variantiVAR_054301414E → K1 Publication1
Natural variantiVAR_009687422R → C No effect on protein stability. 1 PublicationCorresponds to variant dbSNP:rs751113505Ensembl.1
Natural variantiVAR_009688422R → H in GLC1A. Corresponds to variant dbSNP:rs201573718Ensembl.1
Natural variantiVAR_009689423K → E in GLC1A; heterozygote specific phenotype. 3 PublicationsCorresponds to variant dbSNP:rs74315336EnsemblClinVar.1
Natural variantiVAR_009690425S → P Decreases protein stability. 1 Publication1
Natural variantiVAR_005473426V → F in GLC1A. 2 Publications1
Natural variantiVAR_054302427A → T in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs754237376Ensembl.1
Natural variantiVAR_008970433C → R in GLC1A; severe form. 1 PublicationCorresponds to variant dbSNP:rs74315338EnsemblClinVar.1
Natural variantiVAR_054303434G → S in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs1200513428Ensembl.1
Natural variantiVAR_005474437Y → H in GLC1A. 2 PublicationsCorresponds to variant dbSNP:rs74315328EnsemblClinVar.1
Natural variantiVAR_054304438T → I in GLC1A. 1 Publication1
Natural variantiVAR_009691445A → V in GLC1A; no effect on protein stability. 3 PublicationsCorresponds to variant dbSNP:rs140967767Ensembl.1
Natural variantiVAR_054305448T → P in GLC1A. 2 Publications1
Natural variantiVAR_054306450N → D in GLC1A. 1 Publication1
Natural variantiVAR_009692465I → M in GLC1A. 1
Natural variantiVAR_009693470R → C in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs771122834Ensembl.1
Natural variantiVAR_054307470R → H1 PublicationCorresponds to variant dbSNP:rs750791099Ensembl.1
Natural variantiVAR_054308471Y → C in GLC1A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs554235897Ensembl.1
Natural variantiVAR_009694473Y → C No effect on protein stability. 1 Publication1
Natural variantiVAR_009695477I → N in GLC1A; induces stress fiber formation in only 5% of cells. 2 PublicationsCorresponds to variant dbSNP:rs74315331EnsemblClinVar.1
Natural variantiVAR_005475477I → S in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs74315331EnsemblClinVar.1
Natural variantiVAR_005476480N → K in GLC1A. 2 PublicationsCorresponds to variant dbSNP:rs74315332EnsemblClinVar.1
Natural variantiVAR_009696481P → L in GLC1A. 1 Publication1
Natural variantiVAR_009697481P → T in GLC1A. 1
Natural variantiVAR_009698495V → I. 1
Natural variantiVAR_005477499I → F in GLC1A. 2 Publications1
Natural variantiVAR_054309499I → S in GLC1A. 1 Publication1
Natural variantiVAR_009699500K → R. Corresponds to variant dbSNP:rs145977437Ensembl.1
Natural variantiVAR_009700502S → P in GLC1A. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF001620 mRNA Translation: AAC51725.1
D88214 mRNA Translation: BAA23531.1
Z97171, Z97177, Z97174 Genomic DNA Translation: CAB09899.1
U85257 mRNA Translation: AAC52051.1
AB006688 Genomic DNA Translation: BAA24532.1 Different initiation.
AF049793, AF049791, AF049792 Genomic DNA Translation: AAC14264.1
AK315443 mRNA Translation: BAG37831.1
Z98750 Genomic DNA No translation available.
CH471067 Genomic DNA Translation: EAW90903.1
BC029261 mRNA Translation: AAH29261.1
CCDSiCCDS1297.1
PIRiJC5830
RefSeqiNP_000252.1, NM_000261.1
UniGeneiHs.436037

Genome annotation databases

EnsembliENST00000037502; ENSP00000037502; ENSG00000034971
GeneIDi4653
KEGGihsa:4653
UCSCiuc001ghu.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF001620 mRNA Translation: AAC51725.1
D88214 mRNA Translation: BAA23531.1
Z97171, Z97177, Z97174 Genomic DNA Translation: CAB09899.1
U85257 mRNA Translation: AAC52051.1
AB006688 Genomic DNA Translation: BAA24532.1 Different initiation.
AF049793, AF049791, AF049792 Genomic DNA Translation: AAC14264.1
AK315443 mRNA Translation: BAG37831.1
Z98750 Genomic DNA No translation available.
CH471067 Genomic DNA Translation: EAW90903.1
BC029261 mRNA Translation: AAH29261.1
CCDSiCCDS1297.1
PIRiJC5830
RefSeqiNP_000252.1, NM_000261.1
UniGeneiHs.436037

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4WXQX-ray2.15A228-504[»]
4WXSX-ray1.90A228-504[»]
4WXUX-ray2.09A228-504[»]
ProteinModelPortaliQ99972
SMRiQ99972
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110736, 43 interactors
IntActiQ99972, 4 interactors
STRINGi9606.ENSP00000037502

PTM databases

iPTMnetiQ99972
PhosphoSitePlusiQ99972

Polymorphism and mutation databases

BioMutaiMYOC
DMDMi3024209

Proteomic databases

EPDiQ99972
PaxDbiQ99972
PeptideAtlasiQ99972
PRIDEiQ99972
ProteomicsDBi78558

Protocols and materials databases

DNASUi4653
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000037502; ENSP00000037502; ENSG00000034971
GeneIDi4653
KEGGihsa:4653
UCSCiuc001ghu.4 human

Organism-specific databases

CTDi4653
DisGeNETi4653
EuPathDBiHostDB:ENSG00000034971.14
GeneCardsiMYOC
HGNCiHGNC:7610 MYOC
HPAiHPA027364
MalaCardsiMYOC
MIMi137750 phenotype
231300 phenotype
601652 gene
neXtProtiNX_Q99972
OpenTargetsiENSG00000034971
Orphaneti98976 Congenital glaucoma
98977 Juvenile glaucoma
PharmGKBiPA31415
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410INPA Eukaryota
ENOG410YBJJ LUCA
GeneTreeiENSGT00760000119005
HOGENOMiHOG000059654
HOVERGENiHBG105662
InParanoidiQ99972
OMAiRYKYSSM
OrthoDBiEOG091G05HN
PhylomeDBiQ99972
TreeFamiTF315964

Miscellaneous databases

ChiTaRSiMYOC human
GeneWikiiMYOC
GenomeRNAii4653
PROiPR:Q99972
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000034971 Expressed in 145 organ(s), highest expression level in mucosa of stomach
CleanExiHS_MYOC
ExpressionAtlasiQ99972 baseline and differential
GenevisibleiQ99972 HS

Family and domain databases

InterProiView protein in InterPro
IPR031213 Myocilin
IPR003112 Olfac-like_dom
PANTHERiPTHR23192:SF33 PTHR23192:SF33, 1 hit
PfamiView protein in Pfam
PF02191 OLF, 1 hit
SMARTiView protein in SMART
SM00284 OLF, 1 hit
PROSITEiView protein in PROSITE