LOCUS       NM_001007747            2745 bp    mRNA    linear   ROD 02-JUN-2024
DEFINITION  Rattus norvegicus protein O-linked mannose
            N-acetylglucosaminyltransferase 1 (beta 1,2-) (Pomgnt1), mRNA.
ACCESSION   NM_001007747 XM_342885
VERSION     NM_001007747.1
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 2745)
  AUTHORS   Kuwabara,N., Manya,H., Yamada,T., Tateno,H., Kanagawa,M.,
            Kobayashi,K., Akasaka-Manya,K., Hirose,Y., Mizuno,M., Ikeguchi,M.,
            Toda,T., Hirabayashi,J., Senda,T., Endo,T. and Kato,R.
  TITLE     Carbohydrate-binding domain of the POMGnT1 stem region modulates
            O-mannosylation sites of alpha-dystroglycan
  JOURNAL   Proc Natl Acad Sci U S A 113 (33), 9280-9285 (2016)
   PUBMED   27493216
REFERENCE   2  (bases 1 to 2745)
  AUTHORS   Wang,N.H., Chen,S.J., Yang,C.F., Chen,H.W., Chuang,H.P., Lu,Y.H.,
            Chen,C.H., Wu,J.Y., Niu,D.M. and Chen,Y.T.
  TITLE     Homozygosity Mapping and Whole-Genome Sequencing Links a Missense
            Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa
  JOURNAL   Invest Ophthalmol Vis Sci 57 (8), 3601-3609 (2016)
   PUBMED   27391550
REFERENCE   3  (bases 1 to 2745)
  AUTHORS   Xu,M., Yamada,T., Sun,Z., Eblimit,A., Lopez,I., Wang,F., Manya,H.,
            Xu,S., Zhao,L., Li,Y., Kimchi,A., Sharon,D., Sui,R., Endo,T.,
            Koenekoop,R.K. and Chen,R.
  TITLE     Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa
  JOURNAL   Hum Mol Genet 25 (8), 1479-1488 (2016)
   PUBMED   26908613
REFERENCE   4  (bases 1 to 2745)
  AUTHORS   Jiao,H., Manya,H., Wang,S., Zhang,Y., Li,X., Xiao,J., Yang,Y.,
            Kobayashi,K., Toda,T., Endo,T., Wu,X. and Xiong,H.
  TITLE     Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese
            patients
  JOURNAL   Mol Genet Genomics 288 (7-8), 297-308 (2013)
   PUBMED   23689641
REFERENCE   5  (bases 1 to 2745)
  AUTHORS   Saredi,S., Ardissone,A., Ruggieri,A., Mottarelli,E., Farina,L.,
            Rinaldi,R., Silvestri,E., Gandioli,C., D'Arrigo,S., Salerno,F.,
            Morandi,L., Grammatico,P., Pantaleoni,C., Moroni,I. and Mora,M.
  TITLE     Novel POMGNT1 point mutations and intragenic rearrangements
            associated with muscle-eye-brain disease
  JOURNAL   J Neurol Sci 318 (1-2), 45-50 (2012)
   PUBMED   22554691
REFERENCE   6  (bases 1 to 2745)
  AUTHORS   Biancheri,R., Bertini,E., Falace,A., Pedemonte,M., Rossi,A.,
            D'Amico,A., Scapolan,S., Bergamino,L., Petrini,S., Cassandrini,D.,
            Broda,P., Manfredi,M., Zara,F., Santorelli,F.M., Minetti,C. and
            Bruno,C.
  TITLE     POMGnT1 mutations in congenital muscular dystrophy:
            genotype-phenotype correlation and expanded clinical spectrum
  JOURNAL   Arch Neurol 63 (10), 1491-1495 (2006)
   PUBMED   17030669
REFERENCE   7  (bases 1 to 2745)
  AUTHORS   Liu,J., Ball,S.L., Yang,Y., Mei,P., Zhang,L., Shi,H.,
            Kaminski,H.J., Lemmon,V.P. and Hu,H.
  TITLE     A genetic model for muscle-eye-brain disease in mice lacking
            protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1)
  JOURNAL   Mech Dev 123 (3), 228-240 (2006)
   PUBMED   16458488
REFERENCE   8  (bases 1 to 2745)
  AUTHORS   Vervoort,V.S., Holden,K.R., Ukadike,K.C., Collins,J.S., Saul,R.A.
            and Srivastava,A.K.
  TITLE     POMGnT1 gene alterations in a family with neurological
            abnormalities
  JOURNAL   Ann Neurol 56 (1), 143-148 (2004)
   PUBMED   15236414
REFERENCE   9  (bases 1 to 2745)
  AUTHORS   Zhang,W., Betel,D. and Schachter,H.
  TITLE     Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside
            beta1,2-N-acetylglucosaminyltransferase homologous to
            UDP-GlcNAc:alpha-3-D-mannoside
            beta1,2-N-acetylglucosaminyltransferase I
  JOURNAL   Biochem J 361 (Pt 1), 153-162 (2002)
   PUBMED   11742540
REFERENCE   10 (bases 1 to 2745)
  AUTHORS   Yoshida,A., Kobayashi,K., Manya,H., Taniguchi,K., Kano,H.,
            Mizuno,M., Inazu,T., Mitsuhashi,H., Takahashi,S., Takeuchi,M.,
            Herrmann,R., Straub,V., Talim,B., Voit,T., Topaloglu,H., Toda,T.
            and Endo,T.
  TITLE     Muscular dystrophy and neuronal migration disorder caused by
            mutations in a glycosyltransferase, POMGnT1
  JOURNAL   Dev Cell 1 (5), 717-724 (2001)
   PUBMED   11709191
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC083641.1.
            
            On Nov 29, 2004 this sequence version replaced XM_342885.1.
            
            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 :: BC083641.1, SRR8487230.73814.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMD00132261, SAMD00132263
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2745
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /db_xref="taxon:10116"
                     /chromosome="5"
                     /map="5q35"
     gene            1..2745
                     /gene="Pomgnt1"
                     /note="protein O-linked mannose
                     N-acetylglucosaminyltransferase 1 (beta 1,2-)"
                     /db_xref="GeneID:362567"
                     /db_xref="RGD:1359396"
     exon            1..93
                     /gene="Pomgnt1"
                     /inference="alignment:Splign:2.1.0"
     exon            94..272
                     /gene="Pomgnt1"
                     /inference="alignment:Splign:2.1.0"
     CDS             153..2135
                     /gene="Pomgnt1"
                     /EC_number="2.4.1.-"
                     /note="O-linked mannose
                     beta1,2-N-acetylglucosaminyltransferase; protein O-linked
                     mannose beta1,2-N-acetylglucosaminyltransferase"
                     /codon_start=1
                     /product="protein O-linked-mannose
                     beta-1,2-N-acetylglucosaminyltransferase 1"
                     /protein_id="NP_001007748.1"
                     /db_xref="GeneID:362567"
                     /db_xref="RGD:1359396"
                     /translation="MDDWKPSPLIKPFGARKKRSWYLTWKYKLTNQRALRRFCQTGAV
                     LFLLVTVIVNIKLILDTRRAISEANEDPEPEQDYDEALGRLESPRHRGSSPRRVLDVE
                     VYSSRSKVYVAVDGTTVLEDEAREQGRGIHVIVLNQATGHVMAKRVFDTYSPHEDEAM
                     VLFLNMVAPGRVLICTVKDEGSFHLKDTAKALLRSLGSQAGPALGWRDTWAFVGRKGG
                     PVLGEKHSKSPALSSWGDPVLLKTDVPLSSAEEAECHWADTELNRRRRRFCSKVEGYG
                     SVCSCKDPTPIEFSPDPLPDNKVLNVPVAVIAGNRPNYLYRMLRSLLSAQGVSPQMIT
                     VFIDGYYEEPMDVVALFGLRGIQHTPISIKNARVSQHYKASLTATFNLFPEAKFAVVL
                     EEDLDIAVDFFSFLSQSIHLLEEDDSLYCISAWNDQGYEHTAEDPALLYRVETMPGLG
                     WVLRKSLYKEELEPKWPTPEKLWDWDMWMRMPEQRRGRECIIPDVSRSYHFGIVGLNM
                     NGYFHEAYFKKHKFNTVPGVQLRNVDSLKKEAYEVEIHRLLSEAEVLDHSKDPCEDSF
                     LPDTEGHTYVAFIRMEKDDDFTTWTQLAKCLHIWDLDVRGNHRGLWRLFRKKNHFLVV
                     GVPASPYSVKKPPSVTPIFLEPPPKEEGAPGAAEQT"
     exon            273..387
                     /gene="Pomgnt1"
                     /inference="alignment:Splign:2.1.0"
     exon            388..506
                     /gene="Pomgnt1"
                     /inference="alignment:Splign:2.1.0"
     exon            507..572
                     /gene="Pomgnt1"
                     /inference="alignment:Splign:2.1.0"
     exon            573..686
                     /gene="Pomgnt1"
                     /inference="alignment:Splign:2.1.0"
     exon            687..804
                     /gene="Pomgnt1"
                     /inference="alignment:Splign:2.1.0"
     exon            805..903
                     /gene="Pomgnt1"
                     /inference="alignment:Splign:2.1.0"
     exon            904..1031
                     /gene="Pomgnt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1032..1102
                     /gene="Pomgnt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1103..1178
                     /gene="Pomgnt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1179..1262
                     /gene="Pomgnt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1263..1304
                     /gene="Pomgnt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1305..1363
                     /gene="Pomgnt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1364..1436
                     /gene="Pomgnt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1437..1565
                     /gene="Pomgnt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1566..1691
                     /gene="Pomgnt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1692..1756
                     /gene="Pomgnt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1757..1801
                     /gene="Pomgnt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1802..1937
                     /gene="Pomgnt1"
                     /inference="alignment:Splign:2.1.0"
     exon            1938..2047
                     /gene="Pomgnt1"
                     /inference="alignment:Splign:2.1.0"
     exon            2048..2712
                     /gene="Pomgnt1"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 atggaggagg cggaggccgc ggagaccgcg gcgcgcgggg ccgagctgta cgggcccgag
       61 cgcggcccga gcggggccgg gggcccctga gcctcccctc agattcctga agtcatggac
      121 tggccgggac aggggtgatt ccctaatcca gtatggatga ctggaagcct agtcccctca
      181 tcaagccctt tggggctagg aagaaacgga gctggtatct tacctggaag tataaactga
      241 caaaccagcg ggccctgcga agattctgtc agacaggagc tgtgcttttc ctgctggtga
      301 ctgtcattgt gaacatcaag ttgatcctag acactcggag agccatcagc gaggccaatg
      361 aagaccctga accagagcaa gactacgatg aggccctagg acgcttagag tcccctcggc
      421 acagaggcag cagtccccga cgcgtgctgg atgtggaagt atactccagt agaagcaaag
      481 tgtatgtggc ggtagatggc actacggtgc tagaggatga ggcccgggag cagggccgag
      541 gcatccatgt catcgtcctc aaccaggcca cgggccacgt gatggcaaag cgtgtgtttg
      601 acacgtactc tcctcatgag gatgaggcca tggtgctatt cctcaacatg gtggcgcccg
      661 gccgtgtact gatctgcaca gttaaggatg agggctcctt ccacctcaag gacacagcaa
      721 aggctctgct gaggagcctg ggaagccagg caggccctgc ccttggctgg agggacacct
      781 gggccttcgt gggacgaaaa ggaggtcctg ttcttggcga gaagcattct aaatctcctg
      841 ccctctcctc ctggggtgac ccagtcctgc tgaagacaga tgtgccactc agctcagctg
      901 aagaggctga gtgtcactgg gcagatacag agttgaaccg ccgccgcagg cgcttctgca
      961 gcaaagtcga gggctacggg agcgtgtgca gctgcaagga cccaacacct attgagttca
     1021 gccctgaccc acttccagac aataaagtcc tcaatgtgcc tgtggctgtc attgcaggga
     1081 accggcccaa ttacctgtac aggatgctgc gctctctgct gtcagcccaa ggggtatctc
     1141 cacagatgat aacagtcttc attgatggct actatgagga gccaatggat gtggtggcac
     1201 tgtttggtct gagaggcatc cagcacactc ccatcagcat caagaacgcc cgtgtgtctc
     1261 agcactacaa ggccagcctc actgccactt tcaacctgtt tccggaggcc aagtttgctg
     1321 tggttctgga agaggacctg gacatcgctg tggacttttt cagtttcctg agccagtcca
     1381 tccacctgct ggaggaagat gacagcctgt actgcatctc tgcttggaat gaccaggggt
     1441 atgaacacac agctgaggat ccagcactac tgtaccgtgt ggagaccatg cctgggttgg
     1501 gatgggtgct caggaaatct ctatacaagg aggagcttga gcccaagtgg cccacaccag
     1561 aaaagctgtg ggactgggac atgtggatgc ggatgccgga acagcgccgt ggccgtgagt
     1621 gcatcatccc ggatgtttcc cgatcctacc actttggcat cgtgggcctc aacatgaatg
     1681 gctactttca tgaggcctac ttcaagaagc acaagttcaa cacagtccca ggtgtccagc
     1741 tcaggaatgt agacagtctg aagaaagaag cttatgaagt ggaaattcac aggctgctca
     1801 gtgaggccga ggttttggac cacagcaagg acccttgtga agactccttc ctgccagaca
     1861 cagagggcca tacctatgtg gcatttatcc ggatggagaa agatgatgac ttcaccacct
     1921 ggactcagct tgccaagtgc ctccacattt gggatctgga cgttcgtggc aaccaccggg
     1981 gcctgtggag attatttcgg aagaagaacc actttttggt ggtgggggtc ccagcctccc
     2041 cttactcagt gaagaagcca ccctcagtca cccctatttt cctggagcca cccccaaagg
     2101 aagaaggagc cccaggggct gctgaacaaa catgaagtct cctccaggac cctgcagggc
     2161 tgggtactgt gtacccccag acaggctagc ccattgccct atcctgtagg atttttgtag
     2221 atgccggtag gggttagggc tggtttgttt ttaacatggg atttaattac taactctaag
     2281 gggaaggatc ccctgctcca acacccctat tcctgagttt aaggtctatt tatttacttc
     2341 cttgttgaag aagagcagga gggttcccag gccctctttg ggatccctgg gtagctgatc
     2401 cactctttac accccgtcct cccaggcctg gctcagaacc tatttattga ctgtcccgag
     2461 ggccttggga ataggcccaa cctggggcct ttattcctct ctggaccagg atgctgccct
     2521 gagggtggga ctggctcata ctcaggaaaa ctgctgtgcc cagctgatgg acaggcccgt
     2581 tcagggtcca tgtgctgaca gactcactca gagaccttta gacactggac caggcctcct
     2641 cttagccttc tctttgtcca gatttccaaa gctggacaaa gatgatcatt gattaaaaaa
     2701 ggagaaaacc tgaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaa
//
