LOCUS       NM_010865               2093 bp    mRNA    linear   ROD 01-JUN-2024
DEFINITION  Mus musculus myocilin (Myoc), mRNA.
ACCESSION   NM_010865
VERSION     NM_010865.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2093)
  AUTHORS   Zhang,X., Xi,G., Feng,P., Li,C., Kuehn,M.H. and Zhu,W.
  TITLE     Intraocular pressure across the lifespan of Tg-MYOCY437H mice
  JOURNAL   Exp Eye Res 241, 109855 (2024)
   PUBMED   38453040
  REMARK    GeneRIF: Intraocular pressure across the lifespan of Tg-MYOC[Y437H]
            mice.
REFERENCE   2  (bases 1 to 2093)
  AUTHORS   Judge,S.M., Deyhle,M.R., Neyroud,D., Nosacka,R.L., D'Lugos,A.C.,
            Cameron,M.E., Vohra,R.S., Smuder,A.J., Roberts,B.M., Callaway,C.S.,
            Underwood,P.W., Chrzanowski,S.M., Batra,A., Murphy,M.E.,
            Heaven,J.D., Walter,G.A., Trevino,J.G. and Judge,A.R.
  TITLE     MEF2c-Dependent Downregulation of Myocilin Mediates Cancer-Induced
            Muscle Wasting and Associates with Cachexia in Patients with Cancer
  JOURNAL   Cancer Res 80 (9), 1861-1874 (2020)
   PUBMED   32132110
  REMARK    GeneRIF: MEF2c-Dependent Downregulation of Myocilin Mediates
            Cancer-Induced Muscle Wasting and Associates with Cachexia in
            Patients with Cancer.
REFERENCE   3  (bases 1 to 2093)
  AUTHORS   Zieman,A.G., Poll,B.G., Ma,J. and Coulombe,P.A.
  TITLE     Altered keratinocyte differentiation is an early driver of keratin
            mutation-based palmoplantar keratoderma
  JOURNAL   Hum Mol Genet 28 (13), 2255-2270 (2019)
   PUBMED   31220272
REFERENCE   4  (bases 1 to 2093)
  AUTHORS   Patterson-Orazem,A.C., Hill,S.E., Wang,Y., Dominic,I.M., Hall,C.K.
            and Lieberman,R.L.
  TITLE     Differential Misfolding Properties of Glaucoma-Associated
            Olfactomedin Domains from Humans and Mice
  JOURNAL   Biochemistry 58 (13), 1718-1727 (2019)
   PUBMED   30802039
  REMARK    GeneRIF: Phenotypic differences observed in mouse and human studies
            of mutant myocilin could be a function of aggregation kinetics
            rates, which would alter the lifetime of putatively toxic
            protofibrillar intermediates.
REFERENCE   5  (bases 1 to 2093)
  AUTHORS   Lynch,J.M., Dolman,A.J., Guo,C., Dolan,K., Xiang,C., Reda,S., Li,B.
            and Prasanna,G.
  TITLE     Mutant myocilin impacts sarcomere ultrastructure in mouse
            gastrocnemius muscle
  JOURNAL   PLoS One 13 (11), e0206801 (2018)
   PUBMED   30395621
  REMARK    GeneRIF: For this study, we utilized a transgenic mouse expressing
            human mutant MYOC Y437H protein and we examined its skeletal
            (gastrocnemius) muscle phenotype. Electron micrographs showed that
            sarcomeres in the skeletal muscle of mutant CMV-MYOC-Y437H mice had
            multiple M-bands.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2093)
  AUTHORS   Abderrahim,H., Jaramillo-Babb,V.L., Zhou,Z. and Vollrath,D.
  TITLE     Characterization of the murine TIGR/myocilin gene
  JOURNAL   Mamm Genome 9 (8), 673-675 (1998)
   PUBMED   9680392
REFERENCE   7  (bases 1 to 2093)
  AUTHORS   Takahashi,H., Noda,S., Imamura,Y., Nagasawa,A., Kubota,R.,
            Mashima,Y., Kudoh,J., Oguchi,Y. and Shimizu,N.
  TITLE     Mouse myocilin (Myoc) gene expression in ocular tissues
  JOURNAL   Biochem Biophys Res Commun 248 (1), 104-109 (1998)
   PUBMED   9675094
REFERENCE   8  (bases 1 to 2093)
  AUTHORS   Tomarev,S.I., Tamm,E.R. and Chang,B.
  TITLE     Characterization of the mouse Myoc/Tigr gene
  JOURNAL   Biochem Biophys Res Commun 245 (3), 887-893 (1998)
   PUBMED   9588210
REFERENCE   9  (bases 1 to 2093)
  AUTHORS   Fingert,J.H., Ying,L., Swiderski,R.E., Nystuen,A.M., Arbour,N.C.,
            Alward,W.L., Sheffield,V.C. and Stone,E.M.
  TITLE     Characterization and comparison of the human and mouse GLC1A
            glaucoma genes
  JOURNAL   Genome Res 8 (4), 377-384 (1998)
   PUBMED   9548973
REFERENCE   10 (bases 1 to 2093)
  AUTHORS   Ortego,J., Escribano,J. and Coca-Prados,M.
  TITLE     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
  JOURNAL   FEBS Lett 413 (2), 349-353 (1997)
   PUBMED   9280311
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY337559.1, BC125329.1 and BY702327.1.
            
            On Jun 18, 2008 this sequence version replaced NM_010865.2.
            
            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 :: AK144395.1, AF039869.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-55                BY337559.1         1-55
            56-1983             BC125329.1         1-1928
            1984-2093           BY702327.1         261-370
FEATURES             Location/Qualifiers
     source          1..2093
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /db_xref="taxon:10090"
                     /chromosome="1"
                     /map="1 70.29 cM"
     gene            1..2093
                     /gene="Myoc"
                     /gene_synonym="GLC1A; TIGR"
                     /note="myocilin"
                     /db_xref="GeneID:17926"
                     /db_xref="MGI:MGI:1202864"
     exon            1..676
                     /gene="Myoc"
                     /gene_synonym="GLC1A; TIGR"
                     /inference="alignment:Splign:2.1.0"
     CDS             115..1587
                     /gene="Myoc"
                     /gene_synonym="GLC1A; TIGR"
                     /note="trabecular meshwork-induced glucocorticoid response
                     protein"
                     /codon_start=1
                     /product="myocilin precursor"
                     /protein_id="NP_034995.3"
                     /db_xref="CCDS:CCDS15422.1"
                     /db_xref="GeneID:17926"
                     /db_xref="MGI:MGI:1202864"
                     /translation="MPALHLLFLACLVWGMGARTAQFRKANDRSGRCQYTFTVASPNE
                     SSCPREDQAMSAIQDLQRDSSIQHADLESTKARVRSLESLLHQMTLGRVTGTQEAQEG
                     LQGQLGALRRERDQLETQTRDLEAAYNNLLRDKSALEEEKRQLEQENEDLARRLESSS
                     EEVTRLRRGQCPSTQYPSQDMLPGSREVSQWNLDTLAFQELKSELTEVPASQILKENP
                     SGRPRSKEGDKGCGALVWVGEPVTLRTAETIAGKYGVWMRDPKPTHPYTQESTWRIDT
                     VGTEIRQVFEYSQISQFEQGYPSKVHVLPRALESTGAVVYAGSLYFQGAESRTVVRYE
                     LDTETVKAEKEIPGAGYHGHFPYAWGGYTDIDLAVDESGLWVIYSTEEAKGAIVLSKL
                     NPANLELERTWETNIRKQSVANAFVICGILYTVSSYSSAHATVNFAYDTKTGTSKTLT
                     IPFTNRYKYSSMIDYNPLERKLFAWDNFNMVTYDIKLLEM"
     exon            677..802
                     /gene="Myoc"
                     /gene_synonym="GLC1A; TIGR"
                     /inference="alignment:Splign:2.1.0"
     exon            803..2080
                     /gene="Myoc"
                     /gene_synonym="GLC1A; TIGR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2061..2066
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Myoc"
                     /gene_synonym="GLC1A; TIGR"
                     /note="hexamer: AATAAA"
     polyA_site      2080
                     /gene="Myoc"
                     /gene_synonym="GLC1A; TIGR"
                     /note="major polyA site"
ORIGIN      
        1 gagccagcag ggccacccat ccagacacct tgcaggagaa ctttccagaa gaaacctcac
       61 ccagcctcca cactgctgtc cttctctgca cgctgctgca gctgtggtcc caagatgcca
      121 gctctccatc tgctgtttct ggcctgcttg gtgtggggaa tgggggccag gacagcacag
      181 ttccgaaagg ccaatgatcg gagtggccga tgccaataca ccttcactgt ggccagcccc
      241 aatgaatcta gctgcccaag ggaggaccag gccatgtcag ccatccaaga ccttcagaga
      301 gacagcagca tccagcatgc agacctagag tccaccaagg cccgggtcag atccctggag
      361 agtctcctcc accagatgac cttgggccga gttactggga cccaggaggc ccaagagggg
      421 ctgcagggcc agttgggtgc cctgaggaga gaacgggacc agctggagac ccaaaccagg
      481 gatctggagg cagcctataa caatctcctt cgagataagt cggctttaga ggaagagaag
      541 aggcagctgg aacaagagaa tgaagatttg gccaggaggc tagaaagcag cagcgaggag
      601 gtaacaaggc tgcggagggg ccagtgtcct tccacccagt acccctctca ggacatgctg
      661 ccaggctcca gggaagtctc tcagtggaat ttggacacgt tggccttcca ggaattgaag
      721 tcagagttaa ctgaggttcc tgcttcccaa atcttgaagg aaaatccatc tggccgaccc
      781 aggagcaaag aaggagacaa aggatgtgga gcgctagtct gggtaggaga gccagtcacc
      841 ctgaggacag ctgaaacaat cgctggcaag tatggagtgt ggatgagaga ccccaagccc
      901 acccacccct acacccagga aagcacatgg aggattgaca cggttggcac agagatccgc
      961 caggtgtttg agtacagtca gataagccag ttcgagcagg gctatccttc caaggtccat
     1021 gtgctccctc gggcactgga gagcacgggt gctgtggtgt atgcggggag cctctatttc
     1081 cagggggctg agtccagaac tgtggtcagg tatgagctag acacggagac cgtgaaggca
     1141 gagaaggaaa ttcctggagc tggctaccac ggacacttcc cgtacgcgtg gggtggctac
     1201 acagacattg acttagctgt ggatgagagc ggcctctggg tcatctacag cacggaggaa
     1261 gccaaggggg ccatagtcct ctccaaattg aacccagcga acctggaact tgagcgtacc
     1321 tgggagacta acatccgtaa gcagtctgtg gccaatgcct ttgttatctg tggcatcttg
     1381 tacacggtga gcagctactc ttcagcccat gcaaccgtca acttcgccta cgacactaaa
     1441 acggggacca gtaagaccct gaccatccca ttcacgaatc gctacaagta cagcagtatg
     1501 attgactaca accccctgga gaggaagctg tttgcctggg acaacttcaa catggtcacc
     1561 tatgatatca agctcttgga gatgtgagga gcctctatgc ctaccagcaa aggccagaaa
     1621 aggtgaagtt ccgggctccc gggtgaagca gctgtcagca gaggcagcca gatgcatgga
     1681 gtttctcctc ctgctaaaga ttttgtttat ccgggtcaat gtacagctag ctcccctctg
     1741 actgacacgt cctccaggct tgtatagtcg catagactct gttctcttct gtcagctttc
     1801 aaagggctgt tcctctttta aaaatcacat agtgtagcag tccagaggaa aaactagaag
     1861 taaggttgtt tcttcatgaa accattgctt ttgcacgcta ttatggttac cataagcttt
     1921 gcgaggcagc ggcggttctg cggagcgacc gctcctgtgg ttagaactgc tcctgccgaa
     1981 ggtgtattat actccagggg gcttctagtg ctacagatac agcatgtggt tgggtggtac
     2041 gtaaaccctt tgccctgtga aataaagtta tcttacatga aaaaaaaaaa aaa
//
