Q99972 (MYOC_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Myocilin

Alternative name(s):
Trabecular meshwork-induced glucocorticoid response protein

Gene names

Name:	MYOC
Synonyms:	GLC1A, TIGR

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	504 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May participate in the obstruction of fluid outflow in the trabecular meshwork.
Subunit structure	Homodimer. Interacts with OLFM3. Ref.14
Subcellular location	Rough endoplasmic reticulum. Secreted. Cell projection › cilium. Note: Located preferentially in the ciliary rootlet and basal body of the connecting cilium of photoreceptor cells, and in the rough endoplasmic reticulum. Also secreted.
Tissue specificity	Expressed in large amounts in various types of muscle, ciliary body, papillary sphincter, skeletal muscle, heart and other tissues. 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 appeared more intensively than in normal eyes, regardless of the type or clinical severity of glaucoma.
Post-translational modification	Different isoforms may arise by post-translational modifications. Glycosylated. Palmitoylated By similarity.
Involvement in disease	Primary open angle glaucoma 1A (GLC1A) [MIM:137750]: 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. The disease is asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.7 Ref.15 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.24 Ref.25 Ref.26 Ref.27 Ref.28 Ref.29 Ref.30 Ref.31 Ref.32 Ref.33 Ref.34 Ref.35 Ref.36 Ref.37 Ref.38 Ref.39 Ref.40 Ref.41 Ref.42 Ref.43 Ref.45 Ref.46 Ref.47 Primary congenital glaucoma 3A (GLC3A) [MIM:231300]: 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. Note: 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 (Ref.44). Ref.44
Sequence similarities	Contains 1 olfactomedin-like domain.
Sequence caution	The sequence BAA24532.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Cell projection Cilium Endoplasmic reticulum Secreted
Coding sequence diversity	Polymorphism
Disease	Disease mutation Glaucoma
Domain	Coiled coil Signal
PTM	Disulfide bond Glycoprotein Lipoprotein Palmitate
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	anatomical structure morphogenesis Traceable author statement Ref.6. Source: ProtInc
Cellular_component	cilium Inferred from electronic annotation. Source: UniProtKB-SubCell extracellular space Inferred from direct assay PubMed 17317787. Source: MGI extracellular vesicular exosome Inferred from direct assay PubMed 21362503. Source: UniProtKB rough endoplasmic reticulum Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	structural molecule activity Traceable author statement Ref.6. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 32	32	Potential
	Chain	33 – 504	472	Myocilin		PRO_0000020084
Regions
	Domain	244 – 503	260	Olfactomedin-like
	Coiled coil	74 – 184	111	Potential
	Motif	502 – 504	3	Microbody targeting signal Potential
Amino acid modifications
	Glycosylation	57	1	N-linked (GlcNAc...) Probable
	Disulfide bond	245 ↔ 433
Natural variations
	Natural variant	4	1	F → S.		VAR_009665
	Natural variant	9	1	C → S.		VAR_009666
	Natural variant	12	1	G → R. Ref.31 Ref.37		VAR_009667
	Natural variant	16	1	P → L. Ref.37		VAR_054269
	Natural variant	17	1	A → S. Ref.37		VAR_054270
	Natural variant	19	1	Q → H. Ref.30 Corresponds to variant rs2234925 [ dbSNP | Ensembl ].		VAR_009668
	Natural variant	25	1	C → R in GLC1A. Ref.39		VAR_054271
	Natural variant	48	1	Q → H in GLC1A and GLC3A; the GLC3A patient also carries mutation H-368 in CYP1B1 suggesting digenic inheritance. Ref.41 Ref.44		VAR_054272
	Natural variant	53	1	V → A in GLC1A. Ref.29		VAR_008969
	Natural variant	57	1	N → D. Ref.27		VAR_054273
	Natural variant	57	1	N → S. Ref.40		VAR_054274
	Natural variant	73	1	N → S.		VAR_009669
	Natural variant	76	1	R → K. Ref.21 Ref.27 Ref.30 Ref.31 Ref.35 Ref.36 Ref.37 Ref.40 Ref.41 Corresponds to variant rs2234926 [ dbSNP | Ensembl ].		VAR_009670
	Natural variant	77	1	D → E. Ref.35		VAR_054275
	Natural variant	82	1	R → C in GLC1A.		VAR_009671
	Natural variant	82	1	R → H.		VAR_009672
	Natural variant	95	1	L → P. Ref.37		VAR_054276
	Natural variant	126	1	R → W in GLC1A. Ref.35		VAR_054277
	Natural variant	158	1	R → Q in GLC1A. Ref.30		VAR_054278
	Natural variant	189	1	R → Q.		VAR_009673
	Natural variant	203	1	S → F.		VAR_009674
	Natural variant	208	1	D → E in GLC1A; uncertain pothogenicity. Ref.30 Ref.31 Ref.37 Corresponds to variant rs2234927 [ dbSNP | Ensembl ].		VAR_014943
	Natural variant	215	1	L → P. Ref.37		VAR_054279
	Natural variant	244	1	G → V in GLC1A; uncertain pathogenicity. Ref.47		VAR_054280
	Natural variant	245	1	C → Y in GLC1A; forms homomultimeric complexes that migrate at molecular weights larger than their wild-type counterparts; these mutant complexes remain sequestered intracellularly. Ref.45		VAR_054281
	Natural variant	246	1	G → R in GLC1A. Ref.7		VAR_005468
	Natural variant	251	1	V → A in GLC1A. Ref.36		VAR_054282
	Natural variant	252	1	G → R in GLC1A. Ref.27 Ref.28 Ref.34 Ref.47		VAR_054283
	Natural variant	261	1	E → K in GLC1A. Ref.33		VAR_054284
	Natural variant	272	1	R → G in GLC1A; unknown pathological significance. Ref.27		VAR_054285
	Natural variant	274	1	P → R in GLC1A. Ref.43		VAR_054286
	Natural variant	286	1	W → R in GLC1A.		VAR_009675
	Natural variant	293	1	T → K in GLC1A. Ref.34 Ref.35		VAR_009676
	Natural variant	300	1	E → K in GLC1A; uncertain pathogenicity. Ref.37		VAR_054287
	Natural variant	323	1	E → K in GLC1A. Ref.27		VAR_054288
	Natural variant	329	1	V → M. Ref.27		VAR_009677
	Natural variant	337	1	Q → E in GLC1A. Ref.33		VAR_054289
	Natural variant	337	1	Q → R in GLC1A. Ref.17		VAR_005469
	Natural variant	341	1	S → P in GLC1A. Ref.16		VAR_054290
	Natural variant	342	1	R → K in GLC1A. Ref.38		VAR_054291
	Natural variant	345	1	I → M in GLC1A. Ref.36		VAR_054292
	Natural variant	352	1	E → K in GLC1A; unknown pathological significance. Ref.18 Ref.35		VAR_009678
	Natural variant	353	1	T → I in GLC1A; uncertain pathological significance. Ref.24 Ref.31 Ref.37		VAR_009679
	Natural variant	360	1	I → N in GLC1A. Ref.30 Ref.42		VAR_054293
	Natural variant	361	1	P → S in GLC1A.		VAR_009680
	Natural variant	363	1	A → T in GLC1A. Ref.30 Ref.42		VAR_054294
	Natural variant	364	1	G → V in GLC1A. Ref.1		VAR_005470
	Natural variant	367	1	G → R in GLC1A. Ref.15 Ref.19 Ref.20 Ref.34 Ref.35 Ref.36 Ref.40		VAR_005471
	Natural variant	369	1	F → L in GLC1A. Ref.42		VAR_054295
	Natural variant	370	1	P → L in GLC1A; severe form. Ref.7 Ref.15 Ref.18 Ref.19 Ref.21 Ref.27 Ref.34 Ref.36		VAR_005472
	Natural variant	377	1	T → K in GLC1A. Ref.34		VAR_054296
	Natural variant	377	1	T → M in GLC1A. Ref.18 Ref.27		VAR_009681
	Natural variant	380	1	D → A in GLC1A; incomplete penetrance. Ref.21		VAR_009682
	Natural variant	380	1	D → G in GLC1A.		VAR_009683
	Natural variant	380	1	D → H in GLC1A. Ref.46		VAR_054297
	Natural variant	380	1	D → N in GLC1A. Ref.38		VAR_054298
	Natural variant	393	1	S → N in GLC1A. Ref.36		VAR_054299
	Natural variant	393	1	S → R in GLC1A.		VAR_009684
	Natural variant	398	1	K → R. Ref.27 Ref.33 Ref.34 Ref.35 Ref.40 Corresponds to variant rs56314834 [ dbSNP | Ensembl ].		VAR_009685
	Natural variant	399	1	G → V in GLC1A. Ref.34 Corresponds to variant rs28936694 [ dbSNP | Ensembl ].		VAR_054300
	Natural variant	402	1	V → I.		VAR_009686
	Natural variant	414	1	E → K. Ref.37		VAR_054301
	Natural variant	422	1	R → C.		VAR_009687
	Natural variant	422	1	R → H in GLC1A.		VAR_009688
	Natural variant	423	1	K → E in GLC1A; heterozygote specific phenotype. Ref.22 Ref.35 Ref.39		VAR_009689
	Natural variant	425	1	S → P.		VAR_009690
	Natural variant	426	1	V → F in GLC1A. Ref.20 Ref.27		VAR_005473
	Natural variant	427	1	A → T in GLC1A. Ref.35		VAR_054302
	Natural variant	433	1	C → R in GLC1A; severe form. Ref.32		VAR_008970
	Natural variant	434	1	G → S in GLC1A. Ref.36		VAR_054303
	Natural variant	437	1	Y → H in GLC1A. Ref.1 Ref.18		VAR_005474
	Natural variant	438	1	T → I in GLC1A. Ref.40		VAR_054304
	Natural variant	445	1	A → V in GLC1A. Ref.34 Ref.35		VAR_009691
	Natural variant	448	1	T → P in GLC1A. Ref.26 Ref.42		VAR_054305
	Natural variant	450	1	N → D in GLC1A. Ref.36		VAR_054306
	Natural variant	465	1	I → M in GLC1A.		VAR_009692
	Natural variant	470	1	R → C in GLC1A. Ref.36		VAR_009693
	Natural variant	470	1	R → H. Ref.30		VAR_054307
	Natural variant	471	1	Y → C in GLC1A; uncertain pathogenicity. Ref.37		VAR_054308
	Natural variant	473	1	Y → C.		VAR_009694
	Natural variant	477	1	I → N in GLC1A. Ref.27		VAR_009695
	Natural variant	477	1	I → S in GLC1A. Ref.7		VAR_005475
	Natural variant	480	1	N → K in GLC1A. Ref.7 Ref.40		VAR_005476
	Natural variant	481	1	P → L in GLC1A. Ref.35		VAR_009696
	Natural variant	481	1	P → T in GLC1A.		VAR_009697
	Natural variant	495	1	V → I.		VAR_009698
	Natural variant	499	1	I → F in GLC1A. Ref.7 Ref.40		VAR_005477
	Natural variant	499	1	I → S in GLC1A. Ref.27		VAR_054309
	Natural variant	500	1	K → R.		VAR_009699
	Natural variant	502	1	S → P in GLC1A. Ref.21		VAR_009700
Experimental info
	Mutagenesis	57	1	N → S: Loss of higher molecular weight isoform. Ref.13

Sequences

	Sequence		Length	Mass (Da)
	Q99972 [UniParc]. Last modified January 1, 1998. Version 2. Checksum: 9588C04F1D227623	FASTA	504	56,972
	10 20 30 40 50 60 MRFFCARCCS FGPEMPAVQL LLLACLVWDV GARTAQLRKA NDQSGRCQYT FSVASPNESS 70 80 90 100 110 120 CPEQSQAMSV IHNLQRDSST QRLDLEATKA RLSSLESLLH QLTLDQAARP QETQEGLQRE 130 140 150 160 170 180 LGTLRRERDQ LETQTRELET AYSNLLRDKS VLEEEKKRLR QENENLARRL ESSSQEVARL 190 200 210 220 230 240 RRGQCPQTRD TARAVPPGSR EVSTWNLDTL AFQELKSELT EVPASRILKE SPSGYLRSGE 250 260 270 280 290 300 GDTGCGELVW VGEPLTLRTA ETITGKYGVW MRDPKPTYPY TQETTWRIDT VGTDVRQVFE 310 320 330 340 350 360 YDLISQFMQG YPSKVHILPR PLESTGAVVY SGSLYFQGAE SRTVIRYELN TETVKAEKEI 370 380 390 400 410 420 PGAGYHGQFP YSWGGYTDID LAVDEAGLWV IYSTDEAKGA IVLSKLNPEN LELEQTWETN 430 440 450 460 470 480 IRKQSVANAF IICGTLYTVS SYTSADATVN FAYDTGTGIS KTLTIPFKNR YKYSSMIDYN 490 500 PLEKKLFAWD NLNMVTYDIK LSKM

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of a gene that causes primary open angle glaucoma." Stone E.M., Fingert J.H., Alward W.L.M., Nguyen T.D., Polansky J.R., Sunden S.L.F., Nishimura D., Clark A.F., Nystuen A., Nichols B.E., Mackey D.A., Ritch R., Kalenak J.W., Craven E.R., Sheffield V.C. Science 275:668-670(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANTS GLC1A VAL-364 AND HIS-437.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Heart.
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"Gene structure and properties of TIGR, an olfactomedin-related glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells." Nguyen T.D., Chen P., Huang W.D., Chen H., Johnson D., Polansky J.R. J. Biol. Chem. 273:6341-6350(1998) [PubMed] [Europe PMC] [Abstract] Cited for: PROTEIN SEQUENCE OF 1-6 AND 33-37, SEQUENCE REVISION.
[5]	"Cloning and characterization of subtracted cDNAs from a human ciliary body library encoding TIGR, a protein involved in juvenile open angle glaucoma with homology to myosin and olfactomedin." Ortego J., Escribano J., Coca-Prados M. FEBS Lett. 413:349-353(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[6]	"A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping." Kubota R., Noda S., Wang Y., Minoshima S., Asakawa S., Kudoh J., Mashima Y., Oguchi Y., Shimizu N. Genomics 41:360-369(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Retina.
[7]	"Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma." Adam M.F., Belmouden A., Binisti P., Brezin A.P., Valtot F., Bechetoille A., Dascotte J.-C., Copin B., Gomez L., Chaventre A., Bach J.-F., Garchon H.-J. Hum. Mol. Genet. 6:2091-2097(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLC1A ARG-246; LEU-370; SER-477; LYS-480 AND PHE-499. Tissue: Leukocyte.
[8]	"Characterization and comparison of the human and mouse GLC1A glaucoma genes." Fingert J.H., Ying L., Swiderski R.E., Nystuen A.M., Arbour N.C., Alward W.L.M., Sheffield V.C., Stone E.M. Genome Res. 8:377-384(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[9]	"Genomic organization of the human myocilin gene (MYOC) responsible for primary open angle glaucoma (GLC1A)." Kubota R., Kudoh J., Mashima Y., Asakawa S., Minoshima S., Hejtmancik J.F., Oguchi Y., Shimizu N. Biochem. Biophys. Res. Commun. 242:396-400(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[10]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[11]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[12]	"Expression and characterization of the olfactomedin domain of human myocilin." Nagy I., Trexler M., Patthy L. Biochem. Biophys. Res. Commun. 302:554-561(2003) [PubMed] [Europe PMC] [Abstract] Cited for: DISULFIDE BOND AT 245-CYS--CYS-433.
[13]	"Characterization of rabbit myocilin: implications for human myocilin glycosylation and signal peptide usage." Shepard A.R., Jacobson N., Sui R., Steely H.T., Lotery A.J., Stone E.M., Clark A.F. BMC Genet. 4:5-5(2003) [PubMed] [Europe PMC] [Abstract] Cited for: MUTAGENESIS OF ASN-57.
[14]	"Optimedin: a novel olfactomedin-related protein that interacts with myocilin." Torrado M., Trivedi R., Zinovieva R., Karavanova I., Tomarev S.I. Hum. Mol. Genet. 11:1291-1301(2002) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH OLFM3.
[15]	"Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan." Suzuki Y., Shirato S., Taniguchi F., Ohara K., Nishimaki K., Ohta S. Am. J. Hum. Genet. 61:1202-1204(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GLC1A ARG-367 AND LEU-370.
[16]	"TIGR gene in primary open-angle glaucoma and steroid-induced glaucoma." Kee C., Ahn B.-H. Korean J. Ophthalmol. 11:75-78(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GLC1A PRO-341.
[17]	"Identification of a new 'TIGR' mutation in a family with juvenile-onset primary open angle glaucoma." Stoilova D., Child A., Brice G., Crick R.P., Fleck B.W., Sarfarazi M. Ophthalmic Genet. 18:109-118(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GLC1A ARG-337.
[18]	"Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma." Wiggs J.L., Allingham R.R., Vollrath D., Jones K.H., De La Paz M., Kern J., Patterson K., Babb V.L., Del Bono E.A., Broomer B.W., Pericak-Vance M.A., Haines J.L. Am. J. Hum. Genet. 63:1549-1552(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GLC1A LYS-352; LEU-370; MET-377 AND HIS-437.
[19]	"Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis." Michels-Rautenstrauss K.G., Mardin C.Y., Budde W.M., Liehr T., Polansky J.R., Nguyen T., Timmerman V., van Broeckhoven C., Naumann G.O.H., Pfeiffer R.A., Rautenstrauss B.W. Hum. Genet. 102:103-106(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GLC1A ARG-367 AND LEU-370.
[20]	"Novel mutations in the TIGR gene in early and late onset open angle glaucoma." Mansergh F.C., Kenna P.F., Ayuso C., Kiang A.-S., Humphries P., Farrar G.J. Hum. Mutat. 11:244-251(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GLC1A ARG-367 AND PHE-426.
[21]	"Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma." Stoilova D., Child A., Brice G., Desai T., Barsoum-Homsy M., Ozdemir N., Chevrette L., Adam M.F., Garchon H.-J., Pitts Crick R., Sarfarazi M. J. Med. Genet. 35:989-992(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GLC1A LEU-370; ALA-380 AND PRO-502, VARIANT LYS-76.
[22]	"Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma." Morissette J., Clepet C., Moisan S., Dubois S., Winstall E., Vermeeren D., Nguyen T.D., Polansky J.R., Cote G., Anctil J.-L., Amyot M., Plante M., Falardeau P., Raymond V. Nat. Genet. 19:319-321(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GLC1A GLU-423.
[23]	"Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene." Alward W.L.M., Fingert J.H., Coote M.A., Johnson A.T., Lerner S.F., Junqua D., Durcan F.J., McCartney P.J., Mackey D.A., Sheffield V.C., Stone E.M. N. Engl. J. Med. 338:1022-1027(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GLC1A, VARIANTS.
[24]	"Mutations of the TIGR/MYOC gene in primary open-angle glaucoma in Korea." Yoon S.-J.K., Kim H.-S., Moon J.-I., Lim J.M., Joo C.-K. Am. J. Hum. Genet. 64:1775-1778(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GLC1A ILE-353.
[25]	"Analysis of myocilin mutations in 1703 glaucoma patients from five different populations." Fingert J.H., Heon E., Liebmann J.M., Yamamoto T., Craig J.E., Rait J., Kawase K., Hoh S.-T., Buys Y.M., Dickinson J., Hockey R.R., Williams-Lyn D., Trope G., Kitazawa Y., Ritch R., Mackey D.A., Alward W.L.M., Sheffield V.C., Stone E.M. Hum. Mol. Genet. 8:899-905(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GLC1A, VARIANTS.
[26]	"Detection of a new TIGR gene mutation in a Japanese family with primary open angle glaucoma." Yokoyama A., Nao-i N., Date Y., Nakazato M., Chumann H., Chihara E., Sawada A., Matsukura S. Jpn. J. Ophthalmol. 43:85-88(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GLC1A PRO-448.
[27]	"Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma." Shimizu S., Lichter P.R., Johnson A.T., Zhou Z., Higashi M., Gottfredsdottir M., Othman M., Moroi S.E., Rozsa F.W., Schertzer R.M., Clarke M.S., Schwartz A.L., Downs C.A., Vollrath D., Richards J.E. Am. J. Ophthalmol. 130:165-177(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GLC1A ARG-252; GLY-272; LYS-323; LEU-370; MET-377; PHE-426; ASN-477 AND SER-499, VARIANTS ASP-57; LYS-76; MET-329 AND ARG-398, CHARACTERIZATION OF VARIANTS GLC1A ARG-252; GLY-272; LYS-323; LEU-370; MET-377; PHE-426; ASN-477 AND SER-499, CHARACTERIZATION OF VARIANTS ASP-57; LYS-76; MET-329 AND ARG-398.
[28]	"Genetic screening in a large family with juvenile onset primary open angle glaucoma." Booth A.P., Anwar R., Chen H., Churchill A.J., Jay J., Polansky J., Nguyen T., Markham A.F. Br. J. Ophthalmol. 84:722-726(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GLC1A ARG-252.
[29]	"Novel TIGR sequence alteration Val53Ala." Pang C.P., Leung Y.F., Chua J.K.H., Baum L., Fan D.S.P., Lam D.S. Hum. Mutat. 15:122-122(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GLC1A ALA-53.
[30]	"Novel mutations in the myocilin gene in Japanese glaucoma patients." Kubota R., Mashima Y., Ohtake Y., Tanino T., Kimura T., Hotta Y., Kanai A., Tokuoka S., Azuma I., Tanihara H., Inatani M., Inoue Y., Kudoh J., Oguchi Y., Shimizu N. Hum. Mutat. 16:270-270(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GLC1A GLN-158; ASN-360 AND THR-363, VARIANTS HIS-19; LYS-76; GLU-208 AND HIS-470.
[31]	"Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma." Lam D.S.C., Leung Y.F., Chua J.K.H., Baum L., Fan D.S.P., Choy K.W., Pang C.P. Invest. Ophthalmol. Vis. Sci. 41:1386-1391(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GLC1A GLU-208 AND ILE-353, VARIANTS ARG-12 AND LYS-76.
[32]	"Novel mutation in the MYOC gene in primary open glaucoma patients." Vasconcellos J.P.C., Melo M.B., Tsukumo D.M.L., Basseres D.S., Bordin S., Saad S.T.O., Costa F.F. J. Med. Genet. 37:301-303(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GLC1A ARG-433.
[33]	"Mutations in the third exon of the MYOC gene in Spanish patients with primary open angle glaucoma." Vazquez C.M., Herrero O.M.V., Bastus B.M., Perez V.D. Ophthalmic Genet. 21:109-115(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GLC1A LYS-261 AND GLU-337, VARIANT ARG-398.
[34]	"Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene." Vincent A.L., Billingsley G., Buys Y., Levin A.V., Priston M., Trope G., Williams-Lyn D., Heon E. Am. J. Hum. Genet. 70:448-460(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GLC1A ARG-252; LYS-293; ARG-367; LEU-370; LYS-377; VAL-399 AND VAL-445, VARIANT ARG-398.
[35]	"Founder TIGR/myocilin mutations for glaucoma in the Quebec population." The Quebec glaucoma network Faucher M., Anctil J.-L., Rodrigue M.-A., Duchesne A., Bergeron D., Blondeau P., Cote G., Dubois S., Bergeron J., Arseneault R., Morissette J., Raymond V. Hum. Mol. Genet. 11:2077-2090(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GLC1A TRP-126; LYS-293; LYS-352; ARG-367; GLU-423; THR-427; VAL-445 AND LEU-481, VARIANTS LYS-76; GLU-77 AND ARG-398.
[36]	"Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients." Michels-Rautenstrauss K., Mardin C., Wakili N., Juenemann A.M., Villalobos L., Mejia C., Soley G.C., Azofeifa J., Oezbey S., Naumann G.O.H., Reis A., Rautenstrauss B. Hum. Mutat. 20:479-480(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GLC1A ALA-251; MET-345; ARG-367; LEU-370; ASN-393; SER-434; ASP-450 AND CYS-470, VARIANT LYS-76.
[37]	"TIGR/MYOC gene sequence alterations in individuals with and without primary open-angle glaucoma." Pang C.P., Leung Y.F., Fan B., Baum L., Tong W.C., Lee W.S., Chua J.K.H., Fan D.S.P., Liu Y., Lam D.S.C. Invest. Ophthalmol. Vis. Sci. 43:3231-3235(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GLC1A LYS-300 AND CYS-471, VARIANTS ARG-12; LEU-16; SER-17; LYS-76; PRO-95; GLU-208; PRO-215; ILE-353 AND LYS-414.
[38]	"Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa." Challa P., Herndon L.W., Hauser M.A., Broomer B.W., Pericak-Vance M.A., Ababio-Danso B., Allingham R.R. J. Glaucoma 11:416-420(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GLC1A LYS-342 AND ASN-380.
[39]	"Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma." Bruttini M., Longo I., Frezzotti P., Ciappetta R., Randazzo A., Orzalesi N., Fumagalli E., Caporossi A., Frezzotti R., Renieri A. Arch. Ophthalmol. 121:1034-1038(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GLC1A ARG-25 AND GLU-423.
[40]	"Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutation." Melki R., Belmouden A., Brezin A., Garchon H.-J. Hum. Mutat. 22:179-179(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GLC1A ARG-367; ILE-438; LYS-480 AND PHE-499, VARIANTS SER-57; LYS-76 AND ARG-398.
[41]	"Low frequency of myocilin mutations in Indian primary open-angle glaucoma patients." Sripriya S., Uthra S., Sangeetha R., George R.J., Hemamalini A., Paul P.G., Amali J., Vijaya L., Kumaramanickavel G. Clin. Genet. 65:333-337(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GLC1A HIS-48, VARIANT LYS-76.
[42]	"Novel MYOC gene mutation, Phe369Leu, in Japanese patients with primary open-angle glaucoma detected by denaturing high-performance liquid chromatography." Ishikawa K., Funayama T., Ohtake Y., Tanino T., Kurosaka D., Suzuki K., Ideta H., Fujimaki T., Tanihara H., Asaoka R., Naoi N., Yasuda N., Iwata T., Mashima Y. J. Glaucoma 13:466-471(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GLC1A ASN-360; THR-363; LEU-369 AND PRO-448.
[43]	"Genetic analysis of an Indian family with members affected with juvenile-onset primary open-angle glaucoma." Markandaya M., Ramesh T.K., Selvaraju V., Dorairaj S.K., Prakash R., Shetty J., Kumar A. Ophthalmic Genet. 25:11-23(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GLC1A ARG-274.
[44]	"Myocilin gene implicated in primary congenital glaucoma." Kaur K., Reddy A.B.M., Mukhopadhyay A., Mandal A.K., Hasnain S.E., Ray K., Thomas R., Balasubramanian D., Chakrabarti S. Clin. Genet. 67:335-340(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GLC3A HIS-48.
[45]	"Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma." Fan B.J., Leung D.Y.L., Wang D.Y., Gobeil S., Raymond V., Tam P.O.S., Lam D.S.C., Pang C.P. Arch. Ophthalmol. 124:102-106(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GLC1A TYR-245, CHARACTERIZATION OF VARIANT GLC1A TYR-245.
[46]	"Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma." Wirtz M.K., Samples J.R., Choi D., Gaudette N.D. Am. J. Ophthalmol. 144:75-80(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GLC1A HIS-380.
[47]	"Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals." Hewitt A.W., Bennett S.L., Richards J.E., Dimasi D.P., Booth A.P., Inglehearn C., Anwar R., Yamamoto T., Fingert J.H., Heon E., Craig J.E., Mackey D.A. Arch. Ophthalmol. 125:98-104(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GLC1A VAL-244 AND ARG-252.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK315443 mRNA. Translation: BAG37831.1. U85257 mRNA. Translation: AAC52051.1. AF001620 mRNA. Translation: AAC51725.1. D88214 mRNA. Translation: BAA23531.1. Z97171, Z97177, Z97174 Genomic DNA. Translation: CAB09899.1. AF049793, AF049791, AF049792 Genomic DNA. Translation: AAC14264.1. AB006688 Genomic DNA. Translation: BAA24532.1. Different initiation. Z98750 Genomic DNA. Translation: CAD92590.2. CH471067 Genomic DNA. Translation: EAW90903.1. BC029261 mRNA. Translation: AAH29261.1.
IPI	IPI00019190.
PIR	JC5830.
RefSeq	NP_000252.1. NM_000261.1.
UniGene	Hs.436037.
3D structure databases
ProteinModelPortal	Q99972.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000037502.
PTM databases
PhosphoSite	Q99972.
Polymorphism databases
DMDM	3024209.
Proteomic databases
PaxDb	Q99972.
PRIDE	Q99972.
Protocols and materials databases
DNASU	4653.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000037502; ENSP00000037502; ENSG00000034971.
GeneID	4653.
KEGG	hsa:4653.
UCSC	uc001ghu.3. human.
Organism-specific databases
CTD	4653.
GeneCards	GC01M171604.
HGNC	HGNC:7610. MYOC.
HPA	HPA027364.
MIM	137750. phenotype. 231300. phenotype. 601652. gene.
neXtProt	NX_Q99972.
Orphanet	98976. Congenital glaucoma. 98977. Juvenile glaucoma.
PharmGKB	PA31415.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG298097.
HOGENOM	HOG000059654.
HOVERGEN	HBG105662.
InParanoid	Q99972.
OMA	RYKYSSM.
OrthoDB	EOG40S0FR.
PhylomeDB	Q99972.
Gene expression databases
ArrayExpress	Q99972.
Bgee	Q99972.
CleanEx	HS_MYOC.
Genevestigator	Q99972.
GermOnline	ENSG00000034971. Homo sapiens.
Family and domain databases
InterPro	IPR003112. Olfac-like. [Graphical view]
Pfam	PF02191. OLF. 1 hit. [Graphical view]
SMART	SM00284. OLF. 1 hit. [Graphical view]
PROSITE	PS51132. OLF. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	4653.
NextBio	17936.
SOURCE	Search...

Entry information

Entry name

MYOC_HUMAN

Accession

Primary (citable) accession number: Q99972
Secondary accession number(s): B2RD84, O00620, Q7Z6Q9

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1998
Last sequence update:	January 1, 1998
Last modified:	May 1, 2013
This is version 130 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.