LOCUS       NM_053406               2929 bp    mRNA    linear   ROD 04-JUN-2024
DEFINITION  Rattus norvegicus protein-O-mannosyltransferase 1 (Pomt1), mRNA.
ACCESSION   NM_053406
VERSION     NM_053406.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 2929)
  AUTHORS   Larsen,I.S.B., Narimatsu,Y., Joshi,H.J., Yang,Z., Harrison,O.J.,
            Brasch,J., Shapiro,L., Honig,B., Vakhrushev,S.Y., Clausen,H. and
            Halim,A.
  TITLE     Mammalian O-mannosylation of cadherins and plexins is independent
            of protein O-mannosyltransferases 1 and 2
  JOURNAL   J Biol Chem 292 (27), 11586-11598 (2017)
   PUBMED   28512129
REFERENCE   2  (bases 1 to 2929)
  AUTHORS   Bello,L., Melacini,P., Pezzani,R., D'Amico,A., Piva,L.,
            Leonardi,E., Torella,A., Soraru,G., Palmieri,A., Smaniotto,G.,
            Gavassini,B.F., Vianello,A., Nigro,V., Bertini,E., Angelini,C.,
            Tosatto,S.C. and Pegoraro,E.
  TITLE     Cardiomyopathy in patients with POMT1-related congenital and
            limb-girdle muscular dystrophy
  JOURNAL   Eur J Hum Genet 20 (12), 1234-1239 (2012)
   PUBMED   22549409
REFERENCE   3  (bases 1 to 2929)
  AUTHORS   Vajsar,J., Baskin,B., Swoboda,K., Biggar,D.W., Schachter,H. and
            Ray,P.N.
  TITLE     Walker-Warburg Syndrome with POMT1 mutations can be associated with
            cleft lip and cleft palate
  JOURNAL   Neuromuscul Disord 18 (8), 675-677 (2008)
   PUBMED   18640039
REFERENCE   4  (bases 1 to 2929)
  AUTHORS   Bouchet,C., Gonzales,M., Vuillaumier-Barrot,S., Devisme,L.,
            Lebizec,C., Alanio,E., Bazin,A., Bessieres-Grattagliano,B.,
            Bigi,N., Blanchet,P., Bonneau,D., Bonnieres,M., Carles,D.,
            Delahaye,S., Fallet-Bianco,C., Figarella-Branger,D., Gaillard,D.,
            Gasser,B., Guimiot,F., Joubert,M., Laurent,N., Liprandi,A.,
            Loget,P., Marcorelles,P., Martinovic,J., Menez,F., Patrier,S.,
            Pelluard-Nehme,F., Perez,M.J., Rouleau-Dubois,C., Triau,S.,
            Laquerriere,A., Encha-Razavi,F. and Seta,N.
  TITLE     Molecular heterogeneity in fetal forms of type II lissencephaly
  JOURNAL   Hum Mutat 28 (10), 1020-1027 (2007)
   PUBMED   17559086
REFERENCE   5  (bases 1 to 2929)
  AUTHORS   Prados,B., Pena,A., Cotarelo,R.P., Valero,M.C. and Cruces,J.
  TITLE     Expression of the murine Pomt1 gene in both the developing brain
            and adult muscle tissues and its relationship with clinical aspects
            of Walker-Warburg syndrome
  JOURNAL   Am J Pathol 170 (5), 1659-1668 (2007)
   PUBMED   17456771
REFERENCE   6  (bases 1 to 2929)
  AUTHORS   Currier,S.C., Lee,C.K., Chang,B.S., Bodell,A.L., Pai,G.S., Job,L.,
            Lagae,L.G., Al-Gazali,L.I., Eyaid,W.M., Enns,G., Dobyns,W.B. and
            Walsh,C.A.
  TITLE     Mutations in POMT1 are found in a minority of patients with
            Walker-Warburg syndrome
  JOURNAL   Am J Med Genet A 133A (1), 53-57 (2005)
   PUBMED   15637732
REFERENCE   7  (bases 1 to 2929)
  AUTHORS   Willer,T., Prados,B., Falcon-Perez,J.M., Renner-Muller,I.,
            Przemeck,G.K., Lommel,M., Coloma,A., Valero,M.C., de Angelis,M.H.,
            Tanner,W., Wolf,E., Strahl,S. and Cruces,J.
  TITLE     Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in
            mouse results in embryonic lethality
  JOURNAL   Proc Natl Acad Sci U S A 101 (39), 14126-14131 (2004)
   PUBMED   15383666
REFERENCE   8  (bases 1 to 2929)
  AUTHORS   Manya,H., Chiba,A., Yoshida,A., Wang,X., Chiba,Y., Jigami,Y.,
            Margolis,R.U. and Endo,T.
  TITLE     Demonstration of mammalian protein O-mannosyltransferase activity:
            coexpression of POMT1 and POMT2 required for enzymatic activity
  JOURNAL   Proc Natl Acad Sci U S A 101 (2), 500-505 (2004)
   PUBMED   14699049
REFERENCE   9  (bases 1 to 2929)
  AUTHORS   Beltran-Valero de Bernabe,D., Currier,S., Steinbrecher,A.,
            Celli,J., van Beusekom,E., van der Zwaag,B., Kayserili,H.,
            Merlini,L., Chitayat,D., Dobyns,W.B., Cormand,B., Lehesjoki,A.E.,
            Cruces,J., Voit,T., Walsh,C.A., van Bokhoven,H. and Brunner,H.G.
  TITLE     Mutations in the O-mannosyltransferase gene POMT1 give rise to the
            severe neuronal migration disorder Walker-Warburg syndrome
  JOURNAL   Am J Hum Genet 71 (5), 1033-1043 (2002)
   PUBMED   12369018
REFERENCE   10 (bases 1 to 2929)
  AUTHORS   Jurado,L.A., Coloma,A. and Cruces,J.
  TITLE     Identification of a human homolog of the Drosophila rotated abdomen
            gene (POMT1) encoding a putative protein O-mannosyl-transferase,
            and assignment to human chromosome 9q34.1
  JOURNAL   Genomics 58 (2), 171-180 (1999)
   PUBMED   10366449
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DY309994.1, AF192388.1 and BC070912.1.
            
            On Oct 12, 2007 this sequence version replaced NM_053406.1.
            
            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 :: AF192388.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMD00132261, SAMD00132265
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-67                DY309994.1         1-67
            68-2223             AF192388.1         41-2196
            2224-2929           BC070912.1         2565-3270
FEATURES             Location/Qualifiers
     source          1..2929
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /strain="Sprague-Dawley"
                     /db_xref="taxon:10116"
                     /chromosome="3"
                     /map="3p12"
     gene            1..2929
                     /gene="Pomt1"
                     /note="protein-O-mannosyltransferase 1"
                     /db_xref="GeneID:84430"
                     /db_xref="RGD:620078"
     exon            1..124
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     CDS             89..2332
                     /gene="Pomt1"
                     /EC_number="2.4.1.109"
                     /note="dolichyl-phosphate-mannose--protein
                     mannosyltransferase 1"
                     /codon_start=1
                     /product="protein O-mannosyl-transferase 1"
                     /protein_id="NP_445858.1"
                     /db_xref="GeneID:84430"
                     /db_xref="RGD:620078"
                     /translation="MGNRSMGREDTLGVLPSLLFCKMLRFLKRPLVVTIDINLNLVAL
                     TVLGLLTRLWQLSYPRAVVFDEVYYGQYISFYMKRVFFLDDSGPPFGHMLLALGGWLG
                     GFDGNFLWNRIGAEYSSNVPVWSLRLLPALAGALSVPMAYQIVLELHFSHCTAMGAAL
                     LMLIENALITQSRLMLLESILIFFNLLAVLSYLKFFNSQTHSPFSVHWWLWLMLTGVS
                     CSCAVGIKYMGIFTYLLVLSIAAVHAWHLIGDQTLSNICVLSHLLARAVALLVVPVFL
                     YLLFFYVHLMLLYRSGPHDQIMSSAFQASLEGGLARITQGQPLEVAFGSQVTLKSVSG
                     KPLPCWLHSHKNTYPMIYENGRGSSHQQQVTCYPFKDINNWWIVKDPGRHQLVVNNPP
                     RPVRHGDIVQLVHGMTTRLLNTHDVAAPLSPHSQEVSCYIDYNISMPAQNLWKLDIVN
                     RESNQDTWKTILSEVRFVHVNTSAILKLSGAHLPDWGFRQLEVVGEKLSLGPHESMVW
                     NVEEHRYGRGHEQKERELELHSPTQHDISRNLSFMARFSELQWKMLTLKNEDLEHQYS
                     STPLEWLTLDTNIAYWLHPRTSAQIHLLGNIVIWTSASLATVAYTLLFFWYLLRRRRN
                     ICDLPEDAWSHWVLAGALCIGGWALNYLPFFLMERMLFLYHYLPALTFQILLLPIVMQ
                     HASDHLCRSQLQRNVFSALVVAWYSSACHVSNMLRPLTYGDTSLSPGELRALRWKDSW
                     DILIRKY"
     exon            125..276
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            277..383
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            384..434
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            435..581
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            582..693
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            694..759
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            760..853
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            854..1009
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1010..1140
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1141..1236
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1237..1329
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1330..1426
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1427..1519
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1520..1640
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1641..1738
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1739..1852
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1853..1979
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1980..2157
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            2158..2906
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 cgaaaaatta gttgggcgct ccggagtaat cgagcagcct ctcccccaac ggtcgaacca
       61 gcttggcggg ttgcaggcct ggctccacat ggggaaccgc tcaatgggac gcgaagatac
      121 gcttggtgtc ctcccgagct tgcttttctg caaaatgttg agatttttga aacggcctct
      181 agtggtgact attgacatca atttgaattt ggtggctctg actgtcctgg gactacttac
      241 ccggttatgg caactctcct accctcgggc tgtggttttt gatgaagtgt attacgggca
      301 gtacatctcc ttttacatga agcgtgtctt cttcctggat gacagtggac caccgttcgg
      361 ccatatgctg ctagccttag gaggttggct aggaggattc gatgggaact ttctgtggaa
      421 ccgaattgga gcagaataca gtagcaatgt gcctgtatgg tccttacgcc tgctgccggc
      481 gcttgctggg gccctgtcag tacccatggc ctaccagata gtgttggagc tccacttttc
      541 ccactgtact gccatgggag ccgccctgct gatgctcatt gagaacgccc taatcactca
      601 gtccaggctc atgctgttgg aatccatact gatatttttt aacctcttgg ccgtgttgtc
      661 ctatctgaag ttcttcaact cccaaacaca cagccctttc tcagtgcact ggtggctgtg
      721 gctaatgctg accggagtct cttgttcctg tgcggttggg atcaagtaca tgggcatttt
      781 cacctacttg ctcgtgctca gcattgcagc tgtgcatgcc tggcacctga tcggagacca
      841 gaccttgtca aatatctgcg tgctcagtca cttgctcgcc agagccgtag ctctgctggt
      901 cgtcccggtc ttcctgtact tactgttctt ctatgtccac ctgatgttgc tctaccgctc
      961 tgggccccat gaccaaatca tgtccagtgc cttccaagcc agcttggagg gagggctagc
     1021 ccgcatcacc caaggccagc ccctagaggt ggcctttggt tcgcaggtca ctctgaagag
     1081 cgtctccggc aaacccttgc cctgctggct tcattcgcac aagaacacct atcccatgat
     1141 atatgagaat ggccgtggca gctcccacca gcaacaggtg acctgttatc ccttcaaaga
     1201 catcaataac tggtggatcg tcaaggaccc tggacgacac cagctggtgg taaacaaccc
     1261 ccccaggcct gtgagacatg gagacattgt acagctcgtt cacggcatga ccacccgcct
     1321 gcttaacacg catgatgtcg ctgccccgct gagcccccat tctcaagaag tctcctgcta
     1381 cattgactat aacatctcca tgcctgccca gaacctctgg aaactggaca ttgtaaacag
     1441 agagtccaac caggatacct ggaagactat cttgtcagaa gtgcgctttg tgcatgtgaa
     1501 tacatctgcc atcttgaagc tgagcggggc tcacctccct gactggggat ttcggcagtt
     1561 ggaggtggtt ggggagaagt tgtccctcgg cccccacgag agcatggtat ggaatgtgga
     1621 agagcaccgc tatggcagag gccatgagca gaaggagagg gagctggagc tccactcacc
     1681 cacgcagcat gatatcagca ggaacctcag cttcatggcc agattctcgg agttacagtg
     1741 gaagatgctg acgctgaaga atgaggactt agaacaccag tacagctcca ccccgctgga
     1801 gtggctcacg ctggacacca acattgccta ttggctgcac cccaggacca gtgcccagat
     1861 ccacttgctt ggaaacatcg tgatctggac ttcagccagc ctcgccacag tggcatacac
     1921 cctactcttc ttctggtacc tgctccgccg tcgaaggaac atctgtgacc tccctgagga
     1981 tgcctggtcc cactgggtgc tggctggagc cctgtgtatt ggcggttggg cactcaacta
     2041 tctgcccttc ttcctgatgg aaaggatgct cttcctctac cactacttgc cggccctcac
     2101 cttccagatc ctgctgctcc caatcgtcat gcagcacgcc agcgaccatc tgtgcaggtc
     2161 ccagctgcag aggaatgtct tcagtgccct ggtggtagca tggtattcct ctgcgtgcca
     2221 tgtgtccaac atgttacgcc cactgaccta tggggacacg tcactctcac caggcgagct
     2281 ccgggccctt cgctggaaag acagctggga cattctcatc cgaaaatact agagacccag
     2341 aacacagaag acaagcacgc agaataaaaa tctcaaaggt gtgtttgtct cccaccaaca
     2401 gaggcctcag caggcaggac tccctgggct caggaagagc tccaggaatg aattccaatt
     2461 tcatctcaag agccctgttt gaagtgattt ctcctcacac agtgaagaat gtgcccagcc
     2521 acagcatcac ccatgaggcc caactctgac cagtgtttga gctgccagtg taggactcac
     2581 ctacactaca cctaaggcag gaggagcagc cagtgaagga gtgaagtcca ggccccgccc
     2641 agctgtgcgc ccaccaatgg ggtcttagct ctctcccgag gcccacagta ctgccactca
     2701 ttgtgtgcag gtacagtggc cctctgtaaa gcctgcttga agagctgcct tcactcacac
     2761 tgactcctca ccaatgcgac tctagaaatc cctgggagac tgcaccatgc agtcacctga
     2821 cttcagggac aggacaaggt gtcctccacg tggttccctt gcctttaatt tgcctttcct
     2881 aatgtaaata aaaagggaca aattgaaaaa aaaaaaaaaa aaaaaaaaa
//
