LOCUS       NM_014359               1434 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens opticin (OPTC), mRNA.
ACCESSION   NM_014359
VERSION     NM_014359.4
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 1434)
  AUTHORS   Patnaik,S., Rai,M., Jalali,S., Agarwal,K., Badakere,A., Puppala,L.,
            Vishwakarma,S., Balakrishnan,D., Rani,P.K., Kekunnaya,R.,
            Chhablani,P.P., Chakrabarti,S. and Kaur,I.
  TITLE     An interplay of microglia and matrix metalloproteinase MMP9 under
            hypoxic stress regulates the opticin expression in retina
  JOURNAL   Sci Rep 11 (1), 7444 (2021)
   PUBMED   33811221
  REMARK    GeneRIF: An interplay of microglia and matrix metalloproteinase
            MMP9 under hypoxic stress regulates the opticin expression in
            retina.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1434)
  AUTHORS   Luykx,J.J., Bakker,S.C., Lentjes,E., Neeleman,M., Strengman,E.,
            Mentink,L., DeYoung,J., de Jong,S., Sul,J.H., Eskin,E., van
            Eijk,K., van Setten,J., Buizer-Voskamp,J.E., Cantor,R.M., Lu,A.,
            van Amerongen,M., van Dongen,E.P., Keijzers,P., Kappen,T.,
            Borgdorff,P., Bruins,P., Derks,E.M., Kahn,R.S. and Ophoff,R.A.
  TITLE     Genome-wide association study of monoamine metabolite levels in
            human cerebrospinal fluid
  JOURNAL   Mol Psychiatry 19 (2), 228-234 (2014)
   PUBMED   23319000
REFERENCE   3  (bases 1 to 1434)
  AUTHORS   Le Goff,M.M., Sutton,M.J., Slevin,M., Latif,A., Humphries,M.J. and
            Bishop,P.N.
  TITLE     Opticin exerts its anti-angiogenic activity by regulating
            extracellular matrix adhesiveness
  JOURNAL   J Biol Chem 287 (33), 28027-28036 (2012)
   PUBMED   22669977
  REMARK    GeneRIF: opticin binds to collagen and thereby competitively
            inhibits endothelial cell interactions with collagen via
            alpha(1)beta(1) and alpha(2)beta(1) integrins, thereby preventing
            the strong adhesion that is required for proangiogenic signaling
            via these integrins.
REFERENCE   4  (bases 1 to 1434)
  AUTHORS   Ma,J., Zhu,T.P., Moe,M.C., Ye,P. and Yao,K.
  TITLE     Opticin production is reduced by hypoxia and VEGF in human retinal
            pigment epithelium via MMP-2 activation
  JOURNAL   Cytokine 59 (1), 100-107 (2012)
   PUBMED   22534113
  REMARK    GeneRIF: VEGF and hypoxia could decrease opticin protein levels in
            the human retinal pigment epithelium secretome, and that opticin
            may be an enzymatic substrate for MMP-2.
REFERENCE   5  (bases 1 to 1434)
  AUTHORS   Joslyn,G., Ravindranathan,A., Brush,G., Schuckit,M. and White,R.L.
  TITLE     Human variation in alcohol response is influenced by variation in
            neuronal signaling genes
  JOURNAL   Alcohol Clin Exp Res 34 (5), 800-812 (2010)
   PUBMED   20201926
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   6  (bases 1 to 1434)
  AUTHORS   Friedman,J.S., Faucher,M., Hiscott,P., Biron,V.L., Malenfant,M.,
            Turcotte,P., Raymond,V. and Walter,M.A.
  TITLE     Protein localization in the human eye and genetic screen of opticin
  JOURNAL   Hum Mol Genet 11 (11), 1333-1342 (2002)
   PUBMED   12019215
  REMARK    GeneRIF: localization in the human eye and genetic screen of
            opticin
REFERENCE   7  (bases 1 to 1434)
  AUTHORS   Armerding,D., Fuhlbrigge,R.C., Kieffer,J.D. and Kupper,T.S.
  TITLE     Tonsillar B cells do not express PSGL-1, but a significant fraction
            displays the cutaneous lymphocyte antigen and exhibits effective E-
            and P-selectin ligand activity
  JOURNAL   Int Arch Allergy Immunol 126 (1), 78-90 (2001)
   PUBMED   11641609
REFERENCE   8  (bases 1 to 1434)
  AUTHORS   Friedman,J.S., Ducharme,R., Raymond,V. and Walter,M.A.
  TITLE     Isolation of a novel iris-specific and leucine-rich repeat protein
            (oculoglycan) using differential selection
  JOURNAL   Invest Ophthalmol Vis Sci 41 (8), 2059-2066 (2000)
   PUBMED   10892843
REFERENCE   9  (bases 1 to 1434)
  AUTHORS   Hobby,P., Wyatt,M.K., Gan,W., Bernstein,S., Tomarev,S., Slingsby,C.
            and Wistow,G.
  TITLE     Cloning, modeling, and chromosomal localization for a small
            leucine-rich repeat proteoglycan (SLRP) family member expressed in
            human eye
  JOURNAL   Mol Vis 6, 72-78 (2000)
   PUBMED   10837509
  REMARK    Publication Status: Online-Only
REFERENCE   10 (bases 1 to 1434)
  AUTHORS   Reardon,A.J., Le Goff,M., Briggs,M.D., McLeod,D., Sheehan,J.K.,
            Thornton,D.J. and Bishop,P.N.
  TITLE     Identification in vitreous and molecular cloning of opticin, a
            novel member of the family of leucine-rich repeat proteins of the
            extracellular matrix
  JOURNAL   J Biol Chem 275 (3), 2123-2129 (2000)
   PUBMED   10636917
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AJ133790.2 and BF724878.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_014359.3.
            
            Summary: Opticin belongs to class III of the small leucine-rich
            repeat protein (SLRP) family. Members of this family are typically
            associated with the extracellular matrix. Opticin is present in
            significant quantities in the vitreous of the eye and also
            localizes to the cornea, iris, ciliary body, optic nerve, choroid,
            retina, and fetal liver. Opticin may noncovalently bind collagen
            fibrils and regulate fibril morphology, spacing, and organization.
            The opticin gene is mapped to a region of chromosome 1 that is
            associated with the inherited eye diseases age-related macular
            degeneration (AMD) and posterior column ataxia with retinosa
            pigmentosa (AXPC1). [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 :: AJ133790.2, AY077681.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367222.7/ ENSP00000356191.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1349              AJ133790.2         11-1359
            1350-1434           BF724878.1         84-168
FEATURES             Location/Qualifiers
     source          1..1434
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     gene            1..1434
                     /gene="OPTC"
                     /gene_synonym="OPT"
                     /note="opticin"
                     /db_xref="GeneID:26254"
                     /db_xref="HGNC:HGNC:8158"
                     /db_xref="MIM:605127"
     exon            1..65
                     /gene="OPTC"
                     /gene_synonym="OPT"
                     /inference="alignment:Splign:2.1.0"
     exon            66..337
                     /gene="OPTC"
                     /gene_synonym="OPT"
                     /inference="alignment:Splign:2.1.0"
     CDS             107..1105
                     /gene="OPTC"
                     /gene_synonym="OPT"
                     /note="oculoglycan"
                     /codon_start=1
                     /product="opticin precursor"
                     /protein_id="NP_055174.1"
                     /db_xref="CCDS:CCDS1439.1"
                     /db_xref="GeneID:26254"
                     /db_xref="HGNC:HGNC:8158"
                     /db_xref="MIM:605127"
                     /translation="MRLLAFLSLLALVLQETGTASLPRKERKRREEQMPREGDSFEVL
                     PLRNDVLNPDNYGEVIDLSNYEELTDYGDQLPEVKVTSLAPATSISPAKSTTAPGTPS
                     SNPTMTRPTTAGLLLSSQPNHGLPTCLVCVCLGSSVYCDDIDLEDIPPLPRRTAYLYA
                     RFNRISRIRAEDFKGLTKLKRIDLSNNLISSIDNDAFRLLHALQDLILPENQLEALPV
                     LPSGIEFLDVRLNRLQSSGIQPAAFRAMEKLQFLYLSDNLLDSIPGPLPLSLRSVHLQ
                     NNLIETMQRDVFCDPEEHKHTRRQLEDIRLDGNPINLSLFPSAYFCLPRLPIGRFT"
     exon            338..476
                     /gene="OPTC"
                     /gene_synonym="OPT"
                     /inference="alignment:Splign:2.1.0"
     exon            477..635
                     /gene="OPTC"
                     /gene_synonym="OPT"
                     /inference="alignment:Splign:2.1.0"
     exon            636..838
                     /gene="OPTC"
                     /gene_synonym="OPT"
                     /inference="alignment:Splign:2.1.0"
     exon            839..934
                     /gene="OPTC"
                     /gene_synonym="OPT"
                     /inference="alignment:Splign:2.1.0"
     exon            935..1130
                     /gene="OPTC"
                     /gene_synonym="OPT"
                     /inference="alignment:Splign:2.1.0"
     exon            1131..1434
                     /gene="OPTC"
                     /gene_synonym="OPT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1330..1335
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OPTC"
                     /gene_synonym="OPT"
                     /note="hexamer: AATAAA"
     polyA_site      1350
                     /gene="OPTC"
                     /gene_synonym="OPT"
                     /note="major polyA site"
ORIGIN      
        1 accagagtcc ccacctttct ggaagctgca gggctctcca tccaggatcc agaagcattg
       61 aaggggacca gccgctgaag ggattctcag tcccatctga ctccccatga ggctcctggc
      121 tttcctgagt ctgctggcct tggtgctgca ggagacaggg acagcttctc tcccaaggaa
      181 ggagaggaag aggagagagg agcagatgcc cagggaaggc gattcctttg aagttctgcc
      241 tctgcggaat gatgtcctga acccagacaa ctatggtgaa gtcattgacc tgagcaacta
      301 tgaggagctc acagattatg gggaccaact ccccgaggtt aaggtgacta gcctcgctcc
      361 tgcaaccagc atcagtcccg ccaagagcac tacggctcca gggacaccct cgtcaaaccc
      421 cacgatgacc agacctacta cagcagggct gctactgagt tcccagccca accatggtct
      481 gcccacctgc ctggtctgcg tgtgcctcgg ttcctctgtg tattgcgatg acattgacct
      541 agaggacatt cctcctcttc ctcggaggac tgcctacctg tatgcacgct tcaaccgcat
      601 cagccgtatc agggccgaag acttcaaagg gctgacaaag ttgaagagga ttgacctctc
      661 caacaacctc atttcctcca tcgataatga tgccttccgc ctgctacatg ccctccagga
      721 cctcatcctc ccagagaacc agttggaagc tctgcccgtg ctgcccagtg gcattgagtt
      781 cctggatgtc cgcctaaatc ggctccagag ctcggggata cagcctgcag ccttcagggc
      841 aatggagaag ctgcagttcc tttacctgtc agacaacctg ctggattcta tcccggggcc
      901 tttgcccctg agcctgcgct ctgtacacct gcagaataac ctgatagaga ccatgcagag
      961 agacgtcttc tgtgaccccg aggagcacaa acacacccgc aggcagctgg aagacatccg
     1021 cctggatggc aaccccatca acctcagcct cttccccagc gcctacttct gcctgcctcg
     1081 gctccccatc ggccgcttca cgtagctcgg agcccttcca ctcctcccag gtcatctctt
     1141 ggaccagcgg gcatcacatt ctccagcagc cgccatctca cacgcctccc tcctgtggcc
     1201 gccggcagca tggacaaagg tctccatgca gggggaggag gcctgcttct ttccccacag
     1261 ctctcacgtc tcccttctcc ctgcgggtga caaagaagcc caaggaccac ctccttcctg
     1321 cctcattgta ataaaattcc ccacactgag gccttcttgt cttcaacctg gcctgtccag
     1381 cccttccaga tatggccaaa cccatggcct ggatgggctt gtgtacttcc tttc
//
