LOCUS       NM_000261               2100 bp    mRNA    linear   PRI 01-AUG-2024
DEFINITION  Homo sapiens myocilin (MYOC), mRNA.
ACCESSION   NM_000261
VERSION     NM_000261.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2100)
  AUTHORS   Mullie,G.A., Javidi,S., Soucy,J.F., Lesk,M.R. and Hamel,P.
  TITLE     Variable phenotypic expression of MYOC mutations in a family with
            inherited pediatric glaucoma
  JOURNAL   Can J Ophthalmol 58 (6), e269-e270 (2023)
   PUBMED   37247815
  REMARK    GeneRIF: Variable phenotypic expression of MYOC mutations in a
            family with inherited pediatric glaucoma.
REFERENCE   2  (bases 1 to 2100)
  AUTHORS   Saccuzzo,E.G., Youngblood,H.A. and Lieberman,R.L.
  TITLE     Myocilin misfolding and glaucoma: A 20-year update
  JOURNAL   Prog Retin Eye Res 95, 101188 (2023)
   PUBMED   37217093
  REMARK    GeneRIF: Myocilin misfolding and glaucoma: A 20-year update.
            Review article
REFERENCE   3  (bases 1 to 2100)
  AUTHORS   Cheng,Y., Wu,S., Yan,X., Liu,Q., Lin,D., Zhang,J. and Wang,N.
  TITLE     Human Pro370Leu Mutant Myocilin Induces the Phenotype of Open-Angle
            Glaucoma in Transgenic Mice
  JOURNAL   Cell Mol Neurobiol 43 (5), 2021-2033 (2023)
   PUBMED   36069958
  REMARK    GeneRIF: Human Pro370Leu Mutant Myocilin Induces the Phenotype of
            Open-Angle Glaucoma in Transgenic Mice.
REFERENCE   4  (bases 1 to 2100)
  AUTHORS   Abdul Majeed,S., Dunzendorfer,H., Weiner,J., Heiker,J.T., Kiess,W.,
            Korner,A. and Landgraf,K.
  TITLE     COBL, MKX and MYOC Are Potential Regulators of Brown Adipose Tissue
            Development Associated with Obesity-Related Metabolic Dysfunction
            in Children
  JOURNAL   Int J Mol Sci 24 (4), 3085 (2023)
   PUBMED   36834493
  REMARK    GeneRIF: COBL, MKX and MYOC Are Potential Regulators of Brown
            Adipose Tissue Development Associated with Obesity-Related
            Metabolic Dysfunction in Children.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2100)
  AUTHORS   Xie,J.J., Zhang,G.W., Cui,H.Y., Li,N., Liu,X.X., Hao,M.Y.,
            Wang,S.W. and Lu,H.
  TITLE     Penetrance of MYOC gene mutation in primary open-angle glaucoma: A
            systematic review and meta-analysis
  JOURNAL   Ophthalmic Genet 43 (2), 240-247 (2022)
   PUBMED   35014583
  REMARK    GeneRIF: Penetrance of MYOC gene mutation in primary open-angle
            glaucoma: A systematic review and meta-analysis.
REFERENCE   6  (bases 1 to 2100)
  AUTHORS   Kubota,R., Noda,S., Wang,Y., Minoshima,S., Asakawa,S., Kudoh,J.,
            Mashima,Y., Oguchi,Y. and Shimizu,N.
  TITLE     A novel myosin-like protein (myocilin) expressed in the connecting
            cilium of the photoreceptor: molecular cloning, tissue expression,
            and chromosomal mapping
  JOURNAL   Genomics 41 (3), 360-369 (1997)
   PUBMED   9169133
REFERENCE   7  (bases 1 to 2100)
  AUTHORS   Stone,E.M., Fingert,J.H., Alward,W.L., Nguyen,T.D., Polansky,J.R.,
            Sunden,S.L., Nishimura,D., Clark,A.F., Nystuen,A., Nichols,B.E.,
            Mackey,D.A., Ritch,R., Kalenak,J.W., Craven,E.R. and Sheffield,V.C.
  TITLE     Identification of a gene that causes primary open angle glaucoma
  JOURNAL   Science 275 (5300), 668-670 (1997)
   PUBMED   9005853
REFERENCE   8  (bases 1 to 2100)
  AUTHORS   Escribano,J., Ortego,J. and Coca-Prados,M.
  TITLE     Isolation and characterization of cell-specific cDNA clones from a
            subtractive library of the ocular ciliary body of a single normal
            human donor: transcription and synthesis of plasma proteins
  JOURNAL   J Biochem 118 (5), 921-931 (1995)
   PUBMED   8749308
REFERENCE   9  (bases 1 to 2100)
  AUTHORS   Richards,J.E., Lichter,P.R., Boehnke,M., Uro,J.L., Torrez,D.,
            Wong,D. and Johnson,A.T.
  TITLE     Mapping of a gene for autosomal dominant juvenile-onset open-angle
            glaucoma to chromosome Iq
  JOURNAL   Am J Hum Genet 54 (1), 62-70 (1994)
   PUBMED   8279471
REFERENCE   10 (bases 1 to 2100)
  AUTHORS   Sheffield,V.C., Stone,E.M., Alward,W.L., Drack,A.V., Johnson,A.T.,
            Streb,L.M. and Nichols,B.E.
  TITLE     Genetic linkage of familial open angle glaucoma to chromosome
            1q21-q31
  JOURNAL   Nat Genet 4 (1), 47-50 (1993)
   PUBMED   8513321
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z98750.1 and AF001620.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000261.1.
            
            Summary: MYOC encodes the protein myocilin, which is believed to
            have a role in cytoskeletal function. MYOC is expressed in many
            occular tissues, including the trabecular meshwork, and was
            revealed to be the trabecular meshwork glucocorticoid-inducible
            response protein (TIGR). The trabecular meshwork is a specialized
            eye tissue essential in regulating intraocular pressure, and
            mutations in MYOC have been identified as the cause of hereditary
            juvenile-onset open-angle glaucoma. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.323867.1, U85257.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000037502.11/ ENSP00000037502.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-55                Z98750.1           63095-63149         c
            56-2100             AF001620.1         1-2045
FEATURES             Location/Qualifiers
     source          1..2100
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q24.3"
     gene            1..2100
                     /gene="MYOC"
                     /gene_synonym="GLC1A; GPOA; JOAG; JOAG1; TIGR"
                     /note="myocilin"
                     /db_xref="GeneID:4653"
                     /db_xref="HGNC:HGNC:7610"
                     /db_xref="MIM:601652"
     exon            1..681
                     /gene="MYOC"
                     /gene_synonym="GLC1A; GPOA; JOAG; JOAG1; TIGR"
                     /inference="alignment:Splign:2.1.0"
     CDS             78..1592
                     /gene="MYOC"
                     /gene_synonym="GLC1A; GPOA; JOAG; JOAG1; TIGR"
                     /note="mutated trabecular meshwork-induced glucocorticoid
                     response protein; myocilin 55 kDa subunit; myocilin
                     trabecular meshwork inducible glucocorticoid response
                     protein; juvenile-onset open-angle glaucoma 1; myocilin
                     protein"
                     /codon_start=1
                     /product="myocilin precursor"
                     /protein_id="NP_000252.1"
                     /db_xref="CCDS:CCDS1297.1"
                     /db_xref="GeneID:4653"
                     /db_xref="HGNC:HGNC:7610"
                     /db_xref="MIM:601652"
                     /translation="MRFFCARCCSFGPEMPAVQLLLLACLVWDVGARTAQLRKANDQS
                     GRCQYTFSVASPNESSCPEQSQAMSVIHNLQRDSSTQRLDLEATKARLSSLESLLHQL
                     TLDQAARPQETQEGLQRELGTLRRERDQLETQTRELETAYSNLLRDKSVLEEEKKRLR
                     QENENLARRLESSSQEVARLRRGQCPQTRDTARAVPPGSREVSTWNLDTLAFQELKSE
                     LTEVPASRILKESPSGYLRSGEGDTGCGELVWVGEPLTLRTAETITGKYGVWMRDPKP
                     TYPYTQETTWRIDTVGTDVRQVFEYDLISQFMQGYPSKVHILPRPLESTGAVVYSGSL
                     YFQGAESRTVIRYELNTETVKAEKEIPGAGYHGQFPYSWGGYTDIDLAVDEAGLWVIY
                     STDEAKGAIVLSKLNPENLELEQTWETNIRKQSVANAFIICGTLYTVSSYTSADATVN
                     FAYDTGTGISKTLTIPFKNRYKYSSMIDYNPLEKKLFAWDNLNMVTYDIKLSKM"
     exon            682..807
                     /gene="MYOC"
                     /gene_synonym="GLC1A; GPOA; JOAG; JOAG1; TIGR"
                     /inference="alignment:Splign:2.1.0"
     exon            808..2100
                     /gene="MYOC"
                     /gene_synonym="GLC1A; GPOA; JOAG; JOAG1; TIGR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2081..2086
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYOC"
                     /gene_synonym="GLC1A; GPOA; JOAG; JOAG1; TIGR"
                     /note="hexamer: AATAAA"
     polyA_site      2100
                     /gene="MYOC"
                     /gene_synonym="GLC1A; GPOA; JOAG; JOAG1; TIGR"
                     /note="major polyA site"
ORIGIN      
        1 gagccagcaa ggccacccat ccaggcacct ctcagcacag cagagctttc cagaggaagc
       61 ctcaccaagc ctctgcaatg aggttcttct gtgcacgttg ctgcagcttt gggcctgaga
      121 tgccagctgt ccagctgctg cttctggcct gcctggtgtg ggatgtgggg gccaggacag
      181 ctcagctcag gaaggccaat gaccagagtg gccgatgcca gtataccttc agtgtggcca
      241 gtcccaatga atccagctgc ccagagcaga gccaggccat gtcagtcatc cataacttac
      301 agagagacag cagcacccaa cgcttagacc tggaggccac caaagctcga ctcagctccc
      361 tggagagcct cctccaccaa ttgaccttgg accaggctgc caggccccag gagacccagg
      421 aggggctgca gagggagctg ggcaccctga ggcgggagcg ggaccagctg gaaacccaaa
      481 ccagagagtt ggagactgcc tacagcaacc tcctccgaga caagtcagtt ctggaggaag
      541 agaagaagcg actaaggcaa gaaaatgaga atctggccag gaggttggaa agcagcagcc
      601 aggaggtagc aaggctgaga aggggccagt gtccccagac ccgagacact gctcgggctg
      661 tgccaccagg ctccagagaa gtttctacgt ggaatttgga cactttggcc ttccaggaac
      721 tgaagtccga gctaactgaa gttcctgctt cccgaatttt gaaggagagc ccatctggct
      781 atctcaggag tggagaggga gacaccggat gtggagaact agtttgggta ggagagcctc
      841 tcacgctgag aacagcagaa acaattactg gcaagtatgg tgtgtggatg cgagacccca
      901 agcccaccta cccctacacc caggagacca cgtggagaat cgacacagtt ggcacggatg
      961 tccgccaggt ttttgagtat gacctcatca gccagtttat gcagggctac ccttctaagg
     1021 ttcacatact gcctaggcca ctggaaagca cgggtgctgt ggtgtactcg gggagcctct
     1081 atttccaggg cgctgagtcc agaactgtca taagatatga gctgaatacc gagacagtga
     1141 aggctgagaa ggaaatccct ggagctggct accacggaca gttcccgtat tcttggggtg
     1201 gctacacgga cattgacttg gctgtggatg aagcaggcct ctgggtcatt tacagcaccg
     1261 atgaggccaa aggtgccatt gtcctctcca aactgaaccc agagaatctg gaactcgaac
     1321 aaacctggga gacaaacatc cgtaagcagt cagtcgccaa tgccttcatc atctgtggca
     1381 ccttgtacac cgtcagcagc tacacctcag cagatgctac cgtcaacttt gcttatgaca
     1441 caggcacagg tatcagcaag accctgacca tcccattcaa gaaccgctat aagtacagca
     1501 gcatgattga ctacaacccc ctggagaaga agctctttgc ctgggacaac ttgaacatgg
     1561 tcacttatga catcaagctc tccaagatgt gaaaagcctc caagctgtac aggcaatggc
     1621 agaaggagat gctcagggct cctgggggga gcaggctgaa gggagagcca gccagccagg
     1681 gcccaggcag ctttgactgc tttccaagtt ttcattaatc cagaaggatg aacatggtca
     1741 ccatctaact attcaggaat tgtagtctga gggcgtagac aatttcatat aataaatatc
     1801 ctttatcttc tgtcagcatt tatgggatgt ttaatgacat agttcaagtt ttcttgtgat
     1861 ttggggcaaa agctgtaagg cataatagtt tcttcctgaa aaccattgct cttgcatgtt
     1921 acatggttac cacaagccac aataaaaagc ataacttcta aaggaagcag aatagctcct
     1981 ctggccagca tcgaatataa gtaagatgca tttactacag ttggcttcta atgcttcaga
     2041 tagaatacag ttgggtctca cataaccctt tacattgtga aataaaattt tcttacccaa
//
