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SB0099 : myocilin

[ CaMP Format ]

* Basic Information

OrganismHomo sapiens (human)
Protein Namesmyocilin precursor [Homo sapiens]; myocilin precursor; mutated trabecular meshwork-induced glucocorticoid response protein; myocilin 55 kDa subunit; Myocilin; Myocilin 55 kDa subunit; Trabecular meshwork-induced glucocorticoid response protein; Myocilin, N-terminal fragment; Myocilin 20 kDa N-terminal fragment; Myocilin, C-terminal fragment; Myocilin 35 kDa N-terminal fragment
Gene NamesMYOC; GLC1A, TIGR; GLC1A; TIGR; myocilin, trabecular meshwork inducible glucocorticoid response
Gene Locus1q23-q24; chromosome 1
GO FunctionNot available
Entrez Protein Entrez Nucleotide Entrez Gene UniProt OMIM HGNC HPRD KEGG
NP_000252 NM_000261 4653 Q99972 601652 HGNC:7610 03387 hsa:4653

* Information From OMIM

Function: Stone et al. (1997) speculated that the TIGR gene product may cause increased intraocular pressure by obstruction of aqueous outflow. Its expression in trabecular meshwork (TM) and ciliary body (structures of the eye involved in the regulation of intraocular pressure) was consistent with this hypothesis. Obstruction of aqueous outflow is, however, not the only mechanism. Stone (1997) stated that because myocilin is expressed in large amounts in various types of muscle, ciliary body, papillary sphincter, skeletal muscle, heart, and other tissues, it is possible that some muscle-related ciliary body mechanism may be involved in the elevated intraocular pressure. Pilocarpine lowers pressure by constricting the ciliary body chronically; one might then expect a ciliary muscle abnormality to be associated with elevated intraocular pressure.

* Structure Information

1. Primary Information

Length: 504 aa

Average Mass: 56.971 kDa

Monoisotopic Mass: 56.937 kDa

2. Domain Information

Annotated Domains: interpro / pfam / smart / prosite

Computationally Assigned Domains (Pfam+HMMER):

domain namebeginendscoree-value
Filament-like plant protein, long coiled-coil 1. 55175695.09.1
--- cleavage 226 ---
Olfactomedin-like domain 1. 2495002.00.3

3. Sequence Information

Fasta Sequence: SB0099.fasta

Amino Acid Sequence and Secondary Structures (PsiPred):

4. 3D Information

Known Structures in PDB: 4WXQ (X-ray; 215 A; A=228-504), 4WXS (X-ray; 190 A; A=228-504), 4WXU (X-ray; 209 A; A=228-504)

* Cleavage Information

1 [sites] cleaved by Calpain 1 and 2

Source Reference: [PubMed ID: 17650508] Sanchez-Sanchez F, Martinez-Redondo F, Aroca-Aguilar JD, Coca-Prados M, Escribano J, Characterization of the intracellular proteolytic cleavage of myocilin and identification of calpain II as a myocilin-processing protease. J Biol Chem. 2007 Sep 21;282(38):27810-24. Epub 2007 Jul 24.

Cleavage sites (±10aa)

[Site 1] SELTEVPASR226-ILKESPSGYL

Arg226 Ile

P10 P9 P8 P7 P6 P5 P4 P3 P2 P1
Ser217Glu218Leu219Thr220Glu221Val222Pro223Ala224Ser225Arg226
P1' P2' P3' P4' P5' P6' P7' P8' P9' P10'
Ile227Leu228Lys229Glu230Ser231Pro232Ser233Gly234Tyr235Leu236

Sequence conservation (by blast)

* References

[PubMed ID: 25450062] Faralli JA, Clark RW, Filla MS, Peters DM, NFATc1 activity regulates the expression of myocilin induced by dexamethasone. Exp Eye Res. 2015 Jan;130:9-16. doi: 10.1016/j.exer.2014.11.009. Epub 2014 Nov

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