LOCUS       NM_145145               2884 bp    mRNA    linear   ROD 05-AUG-2023
DEFINITION  Mus musculus protein-O-mannosyltransferase 1 (Pomt1), mRNA.
ACCESSION   NM_145145
VERSION     NM_145145.2
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 2884)
  AUTHORS   Uribe ML, Martin-Nieto J, Quereda C, Rubio-Fernandez M, Cruces J,
            Janssen GMC, de Ru AH, van Veelen PA and Hensbergen PJ.
  TITLE     Retinal Proteomics of a Mouse Model of Dystroglycanopathies Reveals
            Molecular Alterations in Photoreceptors
  JOURNAL   J Proteome Res 20 (6), 3268-3277 (2021)
   PUBMED   34027671
REFERENCE   2  (bases 1 to 2884)
  AUTHORS   Collin GB, Gogna N, Chang B, Damkham N, Pinkney J, Hyde LF, Stone
            L, Naggert JK, Nishina PM and Krebs MP.
  TITLE     Mouse Models of Inherited Retinal Degeneration with Photoreceptor
            Cell Loss
  JOURNAL   Cells 9 (4), 931 (2020)
   PUBMED   32290105
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2884)
  AUTHORS   Rubio-Fernandez M, Uribe ML, Vicente-Tejedor J, Germain F,
            Susin-Lara C, Quereda C, Montoliu L, de la Villa P, Martin-Nieto J
            and Cruces J.
  TITLE     Impairment of photoreceptor ribbon synapses in a novel Pomt1
            conditional knockout mouse model of dystroglycanopathy
  JOURNAL   Sci Rep 8 (1), 8543 (2018)
   PUBMED   29867208
  REMARK    GeneRIF: -mannosylation of alpha-DG in the retina carried out by
            POMT1 is crucial for the establishment of proper synapses at the
            OPL and transmission of visual information from cones and rods to
            their postsynaptic neurons.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2884)
  AUTHORS   Lommel M, Winterhalter PR, Willer T, Dahlhoff M, Schneider MR,
            Bartels MF, Renner-Muller I, Ruppert T, Wolf E and Strahl S.
  TITLE     Protein O-mannosylation is crucial for E-cadherin-mediated cell
            adhesion
  JOURNAL   Proc Natl Acad Sci U S A 110 (52), 21024-21029 (2013)
   PUBMED   24297939
REFERENCE   5  (bases 1 to 2884)
  AUTHORS   Yagi H, Nakagawa N, Saito T, Kiyonari H, Abe T, Toda T, Wu SW, Khoo
            KH, Oka S and Kato K.
  TITLE     AGO61-dependent GlcNAc modification primes the formation of
            functional glycans on alpha-dystroglycan
  JOURNAL   Sci Rep 3, 3288 (2013)
   PUBMED   24256719
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2884)
  AUTHORS   Lommel M, Willer T, Cruces J and Strahl S.
  TITLE     POMT1 is essential for protein O-mannosylation in mammals
  JOURNAL   Methods Enzymol 479, 323-342 (2010)
   PUBMED   20816174
REFERENCE   7  (bases 1 to 2884)
  AUTHORS   Lommel M, Willer T and Strahl S.
  TITLE     POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but
            not testis-specific tPOMT2, is crucial for mannosyltransferase
            activity in vivo
  JOURNAL   Glycobiology 18 (8), 615-625 (2008)
   PUBMED   18490429
REFERENCE   8  (bases 1 to 2884)
  AUTHORS   Prados B, Pena A, Cotarelo RP, Valero MC 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   9  (bases 1 to 2884)
  AUTHORS   Willer T, Prados B, Falcon-Perez JM, Renner-Muller I, Przemeck GK,
            Lommel M, Coloma A, Valero MC, de Angelis MH, 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
  REMARK    GeneRIF: during embryogenesis, Pomt1 is expressed in the neural
            tube, the developing eye, and the mesenchyme; targeted deletion of
            Pomt1 results in early embryonic lethality due to defects in the
            assembly of Reichert's membrane
REFERENCE   10 (bases 1 to 2884)
  AUTHORS   Henion TR, Qu Q and Smith FI.
  TITLE     Expression of dystroglycan, fukutin and POMGnT1 during mouse
            cerebellar development
  JOURNAL   Brain Res Mol Brain Res 112 (1-2), 177-181 (2003)
   PUBMED   12670716
  REMARK    Erratum:[Brain Res Mol Brain Res. 2003 Jun 10;114(2):177]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK134770.1, AL808027.14 and CX200660.1.
            
            [WARNING] On Oct 2, 2023 this sequence was replaced by NM_145145.3.
            
            On Apr 26, 2018 this sequence version replaced NM_145145.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY494857.1, BC027325.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1018              AK134770.1         2-1019
            1019-1019           AL808027.14        98929-98929
            1020-2795           AK134770.1         1021-2796
            2796-2884           CX200660.1         218-306
FEATURES             Location/Qualifiers
     source          1..2884
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="2"
                     /map="2 22.09 cM"
     gene            1..2884
                     /gene="Pomt1"
                     /note="protein-O-mannosyltransferase 1"
                     /db_xref="GeneID:99011"
                     /db_xref="MGI:MGI:2138994"
     exon            1..102
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     CDS             67..2307
                     /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_660127.1"
                     /db_xref="CCDS:CCDS15908.1"
                     /db_xref="GeneID:99011"
                     /db_xref="MGI:MGI:2138994"
                     /translation="MGSHSTGLEETLGVLPSWLFCKMLRFLKRPLVVTVDINLNLVAL
                     TGLGLLTRLWQLSYPRAVVFDEVYYGQYISFYMKRIFFLDDSGPPFGHMLLALGGWLG
                     GFDGNFLWNRIGAEYSSNVPIWSLRLLPALAGALSVPMAYQIVLELHFSHGAAIGAAL
                     LMLIENALITQSRLMLLESILIFFNLLAVLSYLKFFNSQTHSPFSVHWWLWLLLTGVS
                     CSCAVGIKYMGIFTYLLVLGIAAVHAWNLIGDQTLSNMRVLSHLLARIVALLVVPVFL
                     YLLFFYVHLMLLYRSGPHDQIMSSAFQASLEGGLARITQGQPLEVAFGSQVTLKSVSG
                     KPLPCWLHSHKNTYPMIYENGRGSSHQQQVTCYPFKDINNWWIVKDPGRHQLVVNNPP
                     RPVRHGDIVQLVHGMTTRLLNTHDVAAPLSPHSQEVSCYIDYNISMPAQNLWKLDIVN
                     RESNRDTWKTILSEVRFVHVNTSAILKLSGAHLPDWGFRQLEVVGEKLSPGYHESMVW
                     NVEEHRYGKSHEQKERELELHSPTQLDISRNLSFMARFSELQWKMLTLKNEDLEHQYS
                     STPLEWLTLDTNIAYWLHPRTSAQIHLLGNIVIWTSASLATVVYTLLFFWYLLRRRRS
                     ICDLPEDAWSRWVLAGALCTGGWALNYLPFFLMERVLFLYHYLPALTFQILLLPIVLQ
                     HASDHLCRSQLQRNVFSALVVAWYSSACHVSNMLRPLTYGDTSLSPGELRALRWKDSW
                     DILIRK"
     exon            103..254
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            255..361
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            362..412
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            413..559
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            560..671
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            672..737
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            738..831
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            832..987
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            988..1118
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1119..1214
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1215..1307
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1308..1404
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1405..1497
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1498..1618
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1619..1716
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1717..1830
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1831..1957
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1958..2135
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
     exon            2136..2868
                     /gene="Pomt1"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 agagtaatcg agcggcctcg cccccaacgg tcgatcctgc ctggcggttc gcaggcctgg
       61 ctccacatgg ggagccactc tacgggactc gaagaaacgc tcggagtcct cccgagctgg
      121 cttttctgca aaatgttaag atttttgaaa cggcctctag tggtgactgt tgacatcaat
      181 ttgaacttgg tagctctgac tggcctggga ctacttaccc gactatggca actctcctac
      241 cctcgggctg tggttttcga tgaagtatat tatgggcagt acatttcctt ctacatgaag
      301 cgcatcttct ttctggatga cagtgggcca ccatttggcc acatgctact ggccttagga
      361 ggttggttag ggggattcga tggtaacttt ctgtggaacc gaattggagc agagtacagt
      421 agcaatgtgc ctatatggtc cttacgcctg ctgccagcgc ttgccggggc cctgtcagtg
      481 cccatggcct accagatagt gctagagctc cacttttccc acggtgctgc cattggagcc
      541 gccctgctga tgctcattga gaacgccctg atcactcagt ccaggctcat gctgttggag
      601 tccatactga tattttttaa cctgttggct gtgttgtcct atctgaagtt cttcaactcc
      661 cagacacaca gccctttctc agtgcactgg tggctgtggc tactgctgac cggggtctct
      721 tgttcctgtg cagttgggat caaatacatg gggattttca cctacctgct tgtgctcggc
      781 attgcagctg tccacgcgtg gaatctgatc ggagaccaga ccttgtcaaa tatgcgcgtg
      841 ctcagtcact tgctcgccag aatcgtggct ctgctggtcg tcccagtctt cctgtactta
      901 ctcttcttct atgtccacct gatgctgctc taccgctctg ggccccatga ccaaatcatg
      961 tccagtgcct tccaggccag cttggaggga gggcttgccc gcatcaccca aggccagccc
     1021 ctggaggtgg cctttggttc ccaggtcact ctgaagagcg tctctggcaa acccttgccc
     1081 tgctggcttc attcgcacaa gaacacctat cccatgatat atgagaatgg ccgtggcagc
     1141 tcccaccagc aacaggtgac ctgttatccc ttcaaagaca tcaataactg gtggatcgtc
     1201 aaggatcctg ggcgacacca gctggtggta aacaaccctc cccggcctgt aagacatgga
     1261 gacattgtac agctcgttca cggcatgacc acccgcctcc ttaacacgca cgatgtcgca
     1321 gccccactga gcccccattc tcaagaagtc tcctgctaca ttgactataa catctccatg
     1381 cctgcccaga acctctggaa actggacatt gtgaacagag agtccaaccg ggatacctgg
     1441 aagactatct tgtcggaagt gcgctttgta catgtgaaca catccgccat cttgaagctg
     1501 agcggggctc acctccctga ctgggggttc cggcagttgg aggtagttgg ggagaagttg
     1561 tcaccgggct accacgagag catggtgtgg aatgtggaag aacaccggta tggcaaaagc
     1621 catgagcaga aggagaggga gctggagctc cactcgccca ctcagctcga tatcagcagg
     1681 aacctcagct tcatggccag attctcagag ttacagtgga agatgctgac gctgaagaat
     1741 gaggacttgg aacaccagta cagctccacc ccgctggagt ggctcacgct ggacaccaac
     1801 atcgcctatt ggctacatcc caggaccagt gctcagatcc acttgcttgg gaacattgtg
     1861 atctggactt cagccagcct tgccacagtg gtctacactc tactcttctt ctggtacctg
     1921 ctccgccggc gaaggagcat ctgtgacctc cctgaggatg cctggtcccg ctgggtgctg
     1981 gctggagccc tgtgtactgg cggctgggca ctcaactacc tgcccttctt cctgatggag
     2041 agggtgctct tcctctacca ctacttgccg gcactcacct tccagatcct gctgctcccg
     2101 attgtcctgc agcacgccag cgaccatctg tgcaggtccc agctgcagag gaatgtcttc
     2161 agtgccctgg ttgtagcatg gtattcctcc gcatgccatg tgtccaacat gctacgccca
     2221 ctaacctatg gggacacgtc actctcacca ggcgagctcc gggcccttcg ctggaaagac
     2281 agctgggata ttctgatccg aaagtaatag agaacaagaa cacagaagac aagcacacag
     2341 gacaaagcct caaagatgtg tttgtctccc accaacagga gcctcagcag gcaggactgc
     2401 cagggtccag gaggaactcc agggactaat tccaatttca cctcaagagc cctgtccact
     2461 ggttccttgt ttgaagcaat tgatttctct tcacacagtg aagaatgtgc ccagccacag
     2521 cgttacccat gaggcccaac tctgacccag ccagagtttg agctgccagt gtaggaacca
     2581 ccaaggcagg aggggcaccc agccagggaa ggagtggggg ggactcagga cgagctgcgg
     2641 gcctactata gggccttagc cctgtcattt atggggccca cagtgccaca cctcattggg
     2701 cacaggcaca gccaccctct gtaaaccctg aaagctgcca gccatccaca gactcctgag
     2761 ccaactctaa agagtcctgg gagactgcag ccacctaact gccacggcca aggtgtcgtc
     2821 cattcacttc cttaccttta atgtaaataa aacaggacaa attgttaaaa aaaaaaaaaa
     2881 aaaa
//
