LOCUS       NM_001195129            2233 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens serine protease 56 (PRSS56), transcript variant 2,
            mRNA.
ACCESSION   NM_001195129 XM_001720729 XM_929928 XM_939623
VERSION     NM_001195129.2
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 2233)
  AUTHORS   Ota,J., Inooka,T., Okado,S., Maeda,N., Koyanagi,Y., Kominami,T.,
            Nishiguchi,K.M. and Ueno,S.
  TITLE     Pathogenic variants of MFRP and PRSS56 genes are major causes of
            nanophthalmos in Japanese patients
  JOURNAL   Ophthalmic Genet 44 (5), 423-429 (2023)
   PUBMED   37501562
  REMARK    GeneRIF: Pathogenic variants of MFRP and PRSS56 genes are major
            causes of nanophthalmos in Japanese patients.
REFERENCE   2  (bases 1 to 2233)
  AUTHORS   Prasov,L., Guan,B., Ullah,E., Archer,S.M., Ayres,B.M.,
            Besirli,C.G., Wiinikka-Buesser,L., Comer,G.M., Del Monte,M.A.,
            Elner,S.G., Garnai,S.J., Huryn,L.A., Johnson,K., Kamat,S.S.,
            Lieu,P., Mian,S.I., Rygiel,C.A., Serpen,J.Y., Pawar,H.S.,
            Brooks,B.P., Moroi,S.E., Richards,J.E. and Hufnagel,R.B.
  TITLE     Novel TMEM98, MFRP, PRSS56 variants in a large United States high
            hyperopia and nanophthalmos cohort
  JOURNAL   Sci Rep 10 (1), 19986 (2020)
   PUBMED   33203948
  REMARK    GeneRIF: Novel TMEM98, MFRP, PRSS56 variants in a large United
            States high hyperopia and nanophthalmos cohort.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2233)
  AUTHORS   Labelle-Dumais,C., Pyatla,G., Paylakhi,S., Tolman,N.G., Hameed,S.,
            Seymens,Y., Dang,E., Mandal,A.K., Senthil,S., Khanna,R.C.,
            Kabra,M., Kaur,I., John,S.W.M., Chakrabarti,S. and Nair,K.S.
  TITLE     Loss of PRSS56 function leads to ocular angle defects and increased
            susceptibility to high intraocular pressure
  JOURNAL   Dis Model Mech 13 (5) (2020)
   PUBMED   32152063
  REMARK    GeneRIF: Loss of PRSS56 function leads to ocular angle defects and
            increased susceptibility to high intraocular pressure.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2233)
  AUTHORS   Bacci,G.M., Bargiacchi,S., Fortunato,P., Pisaneschi,E., Peluso,F.,
            Marziali,E., Magli,A., Giglio,S.R. and Caputo,R.
  TITLE     Novel mutations in MFRP and PRSS56 are associated with posterior
            microphthalmos
  JOURNAL   Ophthalmic Genet 41 (1), 49-56 (2020)
   PUBMED   32118495
  REMARK    GeneRIF: Novel mutations in MFRP and PRSS56 are associated with
            posterior microphthalmos.
REFERENCE   5  (bases 1 to 2233)
  AUTHORS   Said,M.B., Chouchene,E., Salem,S.B., Daoud,K., Largueche,L.,
            Bouassida,W., Benzina,Z., Ayadi,H., Soderkvist,P., Matri,L. and
            Hmani-Aifa,M.
  TITLE     Posterior microphthalmia and nanophthalmia in Tunisia caused by a
            founder c.1059_1066insC mutation of the PRSS56 gene
  JOURNAL   Gene 528 (2), 288-294 (2013)
   PUBMED   23820083
  REMARK    GeneRIF: Idenification of a founder mutation in the PRSS56 gene in
            Tunisian families with posterior microphthalmia and nanophthalmia.
REFERENCE   6  (bases 1 to 2233)
  AUTHORS   Verhoeven,V.J., Hysi,P.G., Wojciechowski,R., Fan,Q.,
            Guggenheim,J.A., Hohn,R., MacGregor,S., Hewitt,A.W., Nag,A.,
            Cheng,C.Y., Yonova-Doing,E., Zhou,X., Ikram,M.K., Buitendijk,G.H.,
            McMahon,G., Kemp,J.P., Pourcain,B.S., Simpson,C.L., Makela,K.M.,
            Lehtimaki,T., Kahonen,M., Paterson,A.D., Hosseini,S.M., Wong,H.S.,
            Xu,L., Jonas,J.B., Parssinen,O., Wedenoja,J., Yip,S.P., Ho,D.W.,
            Pang,C.P., Chen,L.J., Burdon,K.P., Craig,J.E., Klein,B.E.,
            Klein,R., Haller,T., Metspalu,A., Khor,C.C., Tai,E.S., Aung,T.,
            Vithana,E., Tay,W.T., Barathi,V.A., Chen,P., Li,R., Liao,J.,
            Zheng,Y., Ong,R.T., Doring,A., Evans,D.M., Timpson,N.J.,
            Verkerk,A.J., Meitinger,T., Raitakari,O., Hawthorne,F.,
            Spector,T.D., Karssen,L.C., Pirastu,M., Murgia,F., Ang,W.,
            Mishra,A., Montgomery,G.W., Pennell,C.E., Cumberland,P.M.,
            Cotlarciuc,I., Mitchell,P., Wang,J.J., Schache,M.,
            Janmahasatian,S., Igo,R.P. Jr., Lass,J.H., Chew,E., Iyengar,S.K.,
            Gorgels,T.G., Rudan,I., Hayward,C., Wright,A.F., Polasek,O.,
            Vatavuk,Z., Wilson,J.F., Fleck,B., Zeller,T., Mirshahi,A.,
            Muller,C., Uitterlinden,A.G., Rivadeneira,F., Vingerling,J.R.,
            Hofman,A., Oostra,B.A., Amin,N., Bergen,A.A., Teo,Y.Y., Rahi,J.S.,
            Vitart,V., Williams,C., Baird,P.N., Wong,T.Y., Oexle,K.,
            Pfeiffer,N., Mackey,D.A., Young,T.L., van Duijn,C.M., Saw,S.M.,
            Bailey-Wilson,J.E., Stambolian,D., Klaver,C.C. and Hammond,C.J.
  CONSRTM   Consortium for Refractive Error and Myopia (CREAM); Diabetes
            Control and Complications Trial/Epidemiology of Diabetes
            Interventions and Complications (DCCT/EDIC) Research Group;
            Wellcome Trust Case Control Consortium 2 (WTCCC2); Fuchs' Genetics
            Multi-Center Study Group
  TITLE     Genome-wide meta-analyses of multiancestry cohorts identify
            multiple new susceptibility loci for refractive error and myopia
  JOURNAL   Nat Genet 45 (3), 314-318 (2013)
   PUBMED   23396134
  REMARK    Erratum:[Nat Genet. 2013 Jun;45(2):712. Janmahasathian, Sarayut
            [corrected to Sarayut Janmahasatian]]
REFERENCE   7  (bases 1 to 2233)
  AUTHORS   Nowilaty,S.R., Khan,A.O., Aldahmesh,M.A., Tabbara,K.F., Al-Amri,A.
            and Alkuraya,F.S.
  TITLE     Biometric and molecular characterization of clinically diagnosed
            posterior microphthalmos
  JOURNAL   Am J Ophthalmol 155 (2), 361-372 (2013)
   PUBMED   23127749
  REMARK    GeneRIF: Corneal diameter decreases with decreasing axial length,
            suggesting posterior microphthalmos and nanophthalmos represent a
            spectrum of high hyperopia rather than distinct phenotypes. In the
            Saudi population PRSS56 mutations are the major cause.
REFERENCE   8  (bases 1 to 2233)
  AUTHORS   Nair,K.S., Hmani-Aifa,M., Ali,Z., Kearney,A.L., Ben Salem,S.,
            Macalinao,D.G., Cosma,I.M., Bouassida,W., Hakim,B., Benzina,Z.,
            Soto,I., Soderkvist,P., Howell,G.R., Smith,R.S., Ayadi,H. and
            John,S.W.
  TITLE     Alteration of the serine protease PRSS56 causes angle-closure
            glaucoma in mice and posterior microphthalmia in humans and mice
  JOURNAL   Nat Genet 43 (6), 579-584 (2011)
   PUBMED   21532570
  REMARK    GeneRIF: Together, these data suggest that alterations of this
            serine protease may contribute to a spectrum of human ocular
            conditions including reduced ocular size and ACG.
REFERENCE   9  (bases 1 to 2233)
  AUTHORS   Gal,A., Rau,I., El Matri,L., Kreienkamp,H.J., Fehr,S., Baklouti,K.,
            Chouchane,I., Li,Y., Rehbein,M., Fuchs,J., Fledelius,H.C.,
            Vilhelmsen,K., Schorderet,D.F., Munier,F.L., Ostergaard,E.,
            Thompson,D.A. and Rosenberg,T.
  TITLE     Autosomal-recessive posterior microphthalmos is caused by mutations
            in PRSS56, a gene encoding a trypsin-like serine protease
  JOURNAL   Am J Hum Genet 88 (3), 382-390 (2011)
   PUBMED   21397065
  REMARK    GeneRIF: Three different mutations in PRSS56, were detected in
            microphthalmos patients of the Faroese families.
REFERENCE   10 (bases 1 to 2233)
  AUTHORS   Orr,A., Dube,M.P., Zenteno,J.C., Jiang,H., Asselin,G., Evans,S.C.,
            Caqueret,A., Lakosha,H., Letourneau,L., Marcadier,J., Matsuoka,M.,
            Macgillivray,C., Nightingale,M., Papillon-Cavanagh,S., Perry,S.,
            Provost,S., Ludman,M., Guernsey,D.L. and Samuels,M.E.
  TITLE     Mutations in a novel serine protease PRSS56 in families with
            nanophthalmos
  JOURNAL   Mol Vis 17, 1850-1861 (2011)
   PUBMED   21850159
  REMARK    GeneRIF: PRSS56 is a good candidate for the causal gene for
            nanophthalmos in a Mexican-Canadian family cohort.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092165.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 25, 2019 this sequence version replaced NM_001195129.1.
            
            Summary: This gene encodes a protein that contains a peptidase S1
            domain and possesses trypsin-like serine protease activity. The
            encoded protein may play a role in eye development, and mutations
            in this gene are a cause of autosomal recessive posterior
            microphthalmos. [provided by RefSeq, Dec 2011].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence because no single transcript was available for the
            full length of the gene. The genomic coordinates used for the
            transcript record were based on transcript and protein alignments,
            including the full-length mouse transcript JF323950.1.
            
            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 :: SRR14038195.2763868.1,
                                           ERR4352444.744151.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2152474,
                                           SAMN03267755 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000617714.2/ ENSP00000479745.1
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-308               AC092165.4         49455-49762
            309-416             AC092165.4         50388-50495
            417-467             AC092165.4         50883-50933
            468-657             AC092165.4         51038-51227
            658-757             AC092165.4         51582-51681
            758-917             AC092165.4         51769-51928
            918-1060            AC092165.4         52127-52269
            1061-1223           AC092165.4         52483-52645
            1224-1397           AC092165.4         52839-53012
            1398-1562           AC092165.4         53106-53270
            1563-1625           AC092165.4         53374-53436
            1626-1732           AC092165.4         53805-53911
            1733-2233           AC092165.4         54283-54783
FEATURES             Location/Qualifiers
     source          1..2233
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.1"
     gene            1..2233
                     /gene="PRSS56"
                     /gene_synonym="MCOP6"
                     /note="serine protease 56"
                     /db_xref="GeneID:646960"
                     /db_xref="HGNC:HGNC:39433"
                     /db_xref="MIM:613858"
     exon            1..308
                     /gene="PRSS56"
                     /gene_synonym="MCOP6"
                     /inference="alignment:Splign:2.1.0"
     CDS             212..2023
                     /gene="PRSS56"
                     /gene_synonym="MCOP6"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; putative serine protease 56; protease, serine
                     56"
                     /codon_start=1
                     /product="serine protease 56 isoform 2 precursor"
                     /protein_id="NP_001182058.1"
                     /db_xref="CCDS:CCDS74669.1"
                     /db_xref="GeneID:646960"
                     /db_xref="HGNC:HGNC:39433"
                     /db_xref="MIM:613858"
                     /translation="MLLAVLLLLPLPSSWFAHGHPLYTRLPPSALQVLSAQGTQALQA
                     AQRSAQWAINRVAMEIQHRSHECRGSGRPRPQALLQDPPEPGPCGERRPSTANVTRAH
                     GRIVGGSAAPPGAWPWLVRLQLGGQPLCGGVLVAASWVLTAAHCFVGAPNELLWTVTL
                     AEGSRGEQAEEVPVNRILPHPKFDPRTFHNDLALVQLWTPVSPGGSARPVCLPQEPQE
                     PPAGTACAIAGWGALFEDGPEAEAVREARVPLLSTDTCRRALGPGLRPSTMLCAGYLA
                     GGVDSCQGDSGGPLTCSEPGPRPREVLFGVTSWGDGCGEPGKPGVYTRVAVFKDWLQE
                     QMSASSSREPSCRELLAWDPPQELQADAARLCAFYARLCPGSQGACARLAHQQCLQRR
                     RRCELRSLAHTLLGLLRNAQELLGPRPGLRRLAPALALPAPALRESPLHPARELRLHS
                     GSRAAGTRFPKRRPEPRGEANGCPGLEPLRQKLAALQGAHAWILQVPSEHLAMNFHEV
                     LADLGSKTLTGLFRAWVRAGLGGRHVAFSGLVGLEPATLARSLPRLLVQALQAFRVAA
                     LAEGEPEGPWMDVGQGPGLERKGHHPLNPQVPPARQP"
     exon            309..416
                     /gene="PRSS56"
                     /gene_synonym="MCOP6"
                     /inference="alignment:Splign:2.1.0"
     exon            417..467
                     /gene="PRSS56"
                     /gene_synonym="MCOP6"
                     /inference="alignment:Splign:2.1.0"
     exon            468..657
                     /gene="PRSS56"
                     /gene_synonym="MCOP6"
                     /inference="alignment:Splign:2.1.0"
     exon            658..757
                     /gene="PRSS56"
                     /gene_synonym="MCOP6"
                     /inference="alignment:Splign:2.1.0"
     exon            758..917
                     /gene="PRSS56"
                     /gene_synonym="MCOP6"
                     /inference="alignment:Splign:2.1.0"
     exon            918..1060
                     /gene="PRSS56"
                     /gene_synonym="MCOP6"
                     /inference="alignment:Splign:2.1.0"
     exon            1061..1223
                     /gene="PRSS56"
                     /gene_synonym="MCOP6"
                     /inference="alignment:Splign:2.1.0"
     exon            1224..1397
                     /gene="PRSS56"
                     /gene_synonym="MCOP6"
                     /inference="alignment:Splign:2.1.0"
     exon            1398..1562
                     /gene="PRSS56"
                     /gene_synonym="MCOP6"
                     /inference="alignment:Splign:2.1.0"
     exon            1563..1625
                     /gene="PRSS56"
                     /gene_synonym="MCOP6"
                     /inference="alignment:Splign:2.1.0"
     exon            1626..1732
                     /gene="PRSS56"
                     /gene_synonym="MCOP6"
                     /inference="alignment:Splign:2.1.0"
     exon            1733..2233
                     /gene="PRSS56"
                     /gene_synonym="MCOP6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2206..2211
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRSS56"
                     /gene_synonym="MCOP6"
                     /note="hexamer: AATAAA"
     polyA_site      2233
                     /gene="PRSS56"
                     /gene_synonym="MCOP6"
                     /note="major polyA site"
ORIGIN      
        1 gggctcctag gagttaaggg ccaggtgagg gctgaccagg gaggcgggta attttgatgt
       61 aagagaacgg ggtcagatga tttgagggac aagaattcag tgcccggggg ccgaaaggca
      121 gcagaaggcg ggcaccaaag gataggcacc cggaaggtgg actccgagga ggagagagga
      181 caggggtctc tcaccccagc tcctggtcac catgctgctg gctgtgctgc tgctgctacc
      241 cctcccaagc tcatggtttg cccacgggca cccactgtac acacgcctgc cccccagcgc
      301 cctgcaagtt ctgtcggccc aggggactca ggcgttgcag gcagcccaga ggagcgccca
      361 gtgggcaata aaccgagtgg cgatggagat ccagcacaga tcgcacgagt gccgaggatc
      421 tgggcgcccc aggcctcaag ctctcctcca ggacccacct gagccagggc cgtgcggcga
      481 gaggcgtccg agcactgcca atgtgacgcg ggcccacggc cgcatcgtgg ggggcagcgc
      541 ggcgccgccc ggggcctggc cctggctggt gaggctgcag ctcggcgggc agcctctgtg
      601 cggcggcgtc ctggtagcgg cctcctgggt gctcacggca gcgcactgct ttgtaggcgc
      661 cccgaatgag cttctgtgga ctgtgacgct ggcagagggg tcccgggggg agcaagcgga
      721 ggaggtgcca gtgaaccgca tcctgcccca ccccaagttt gacccgcgga ccttccacaa
      781 cgacctggcc ctggtgcagc tgtggacgcc ggtgagcccg gggggatcgg cgcgccccgt
      841 gtgcctgccc caggagcccc aggagccccc tgccggaacc gcctgcgcca tcgcgggctg
      901 gggcgccctc ttcgaagacg ggcctgaggc tgaagcagtg agagaggccc gtgttcccct
      961 gctcagcacc gacacctgcc gaagagccct ggggcccggg ctgcgcccca gcaccatgct
     1021 ctgcgccggg tacctggcgg ggggcgttga ctcgtgccag ggtgactcgg gaggccccct
     1081 gacctgttct gagcctggcc cccgccctag agaggtcctg ttcggagtca cctcctgggg
     1141 ggacggctgc ggggagccag ggaagcccgg ggtctacacc cgcgtggcag tgttcaagga
     1201 ctggctccag gagcagatga gcgcctcctc cagccgcgag cccagctgca gggagcttct
     1261 ggcctgggac cccccccagg agctgcaggc agacgccgcc cggctctgcg ccttctatgc
     1321 ccgcctgtgc ccggggtccc agggcgcctg tgcgcgcctg gcgcaccagc agtgcctgca
     1381 gcgccggcgg cgatgcgagc tgcgctcgct ggcgcacacg ctgctgggcc tgctgcggaa
     1441 cgcgcaggag ctgctcgggc ctcgtccggg actgcggcgc ctggcccccg ccctggctct
     1501 ccccgctcca gcgctcaggg agtctcctct gcaccccgcc cgggagctgc ggcttcactc
     1561 aggatcgcgg gctgcaggca ctcggttccc gaagcggagg ccggagccgc gcggagaagc
     1621 caacggctgc cctgggctgg agcccctgcg acagaagttg gctgccctgc agggggccca
     1681 tgcctggatc ctgcaggtcc cctcggagca cctggccatg aactttcatg aggtcctggc
     1741 agatctgggc tccaagacac tgaccgggct tttcagagcc tgggtgcggg caggcttggg
     1801 gggccggcat gtggccttca gcggcctggt gggcctggag ccggccacac tggctcgcag
     1861 cctcccccgg ctgctggtgc aggccctgca ggccttccgc gtggctgccc tggcagaagg
     1921 ggagcccgag ggaccctgga tggatgtagg gcaggggccc gggctggaga ggaaggggca
     1981 ccacccactc aaccctcagg taccccccgc caggcaaccc tgagccatgt ctgggccccc
     2041 agcccctggg gaggacctac tgctcccagg ggctgagagg ggttcgggag cataatgaca
     2101 aactgtcgct gccccagtgg ctgggtgtgt gtgggtggga tggggtgggg gtcctgggcc
     2161 ccccgtgtct tcccaggttt acaatcagag aatcacagct gctttaataa atgttattta
     2221 taatacacgg aaa
//
