LOCUS       NM_026651               2736 bp    mRNA    linear   ROD 02-JUN-2024
DEFINITION  Mus musculus protein O-linked mannose beta
            1,2-N-acetylglucosaminyltransferase (Pomgnt1), transcript variant
            1, mRNA.
ACCESSION   NM_026651
VERSION     NM_026651.2
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 2736)
  AUTHORS   Feng,Y., Jiang,H., Li,G., He,G. and Li,X.
  TITLE     Decreased expression of protein O-linked mannose
            beta-1,2-N-acetylglucosaminyltransferase 1 contributes to
            Alzheimer's disease-like pathologies
  JOURNAL   J Neurophysiol 127 (4), 1067-1074 (2022)
   PUBMED   35320023
  REMARK    GeneRIF: Decreased expression of protein O-linked mannose
            beta-1,2-N-acetylglucosaminyltransferase 1 contributes to
            Alzheimer's disease-like pathologies.
REFERENCE   2  (bases 1 to 2736)
  AUTHORS   Morioka,S., Sakaguchi,H., Mohri,H., Taniguchi-Ikeda,M.,
            Kanagawa,M., Suzuki,T., Miyagoe-Suzuki,Y., Toda,T., Saito,N. and
            Ueyama,T.
  TITLE     Congenital hearing impairment associated with peripheral cochlear
            nerve dysmyelination in glycosylation-deficient muscular dystrophy
  JOURNAL   PLoS Genet 16 (5), e1008826 (2020)
   PUBMED   32453729
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2736)
  AUTHORS   Collin,G.B., Gogna,N., Chang,B., Damkham,N., Pinkney,J., Hyde,L.F.,
            Stone,L., Naggert,J.K., Nishina,P.M. and Krebs,M.P.
  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   4  (bases 1 to 2736)
  AUTHORS   Booler,H.S., Williams,J.L., Hopkinson,M. and Brown,S.C.
  TITLE     Degree of Cajal-Retzius Cell Mislocalization Correlates with the
            Severity of Structural Brain Defects in Mouse Models of
            Dystroglycanopathy
  JOURNAL   Brain Pathol 26 (4), 465-478 (2016)
   PUBMED   26306834
REFERENCE   5  (bases 1 to 2736)
  AUTHORS   Dwyer,C.A., Katoh,T., Tiemeyer,M. and Matthews,R.T.
  TITLE     Neurons and glia modify receptor protein-tyrosine phosphatase zeta
            (RPTPzeta)/phosphacan with cell-specific O-mannosyl glycans in the
            developing brain
  JOURNAL   J Biol Chem 290 (16), 10256-10273 (2015)
   PUBMED   25737452
REFERENCE   6  (bases 1 to 2736)
  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   7  (bases 1 to 2736)
  AUTHORS   Li,X., Zhang,P., Yang,Y., Xiong,Y., Qi,Y. and Hu,H.
  TITLE     Differentiation and developmental origin of cerebellar granule
            neuron ectopia in protein O-mannose UDP-N-acetylglucosaminyl
            transferase 1 knockout mice
  JOURNAL   Neuroscience 152 (2), 391-406 (2008)
   PUBMED   18295407
REFERENCE   8  (bases 1 to 2736)
  AUTHORS   Xiong,H., Kobayashi,K., Tachikawa,M., Manya,H., Takeda,S.,
            Chiyonobu,T., Fujikake,N., Wang,F., Nishimoto,A., Morris,G.E.,
            Nagai,Y., Kanagawa,M., Endo,T. and Toda,T.
  TITLE     Molecular interaction between fukutin and POMGnT1 in the
            glycosylation pathway of alpha-dystroglycan
  JOURNAL   Biochem Biophys Res Commun 350 (4), 935-941 (2006)
   PUBMED   17034757
  REMARK    GeneRIF: From these findings, we propose that fukutin forms a
            complex with POMGnT1 and may modulate its enzymatic activity.
REFERENCE   9  (bases 1 to 2736)
  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
  REMARK    GeneRIF: The present study provides the first genetic animal model
            to further dissect the roles of POMGnT1 in MEB disease.
REFERENCE   10 (bases 1 to 2736)
  AUTHORS   Henion,T.R., Qu,Q. and Smith,F.I.
  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
            BY732188.1, AB053220.1 and AI848361.1.
            
            On Mar 21, 2009 this sequence version replaced NM_026651.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (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 :: AB053220.1, SRR1660817.5367.1
                                           [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,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                BY732188.1         1-18
            19-2718             AB053220.1         1-2700
            2719-2736           AI848361.1         1-18                c
FEATURES             Location/Qualifiers
     source          1..2736
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="4"
                     /map="4 53.1 cM"
     gene            1..2736
                     /gene="Pomgnt1"
                     /gene_synonym="0610016I07Rik; 4930467B06Rik"
                     /note="protein O-linked mannose beta
                     1,2-N-acetylglucosaminyltransferase"
                     /db_xref="GeneID:68273"
                     /db_xref="MGI:MGI:1915523"
     exon            1..100
                     /gene="Pomgnt1"
                     /gene_synonym="0610016I07Rik; 4930467B06Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            101..279
                     /gene="Pomgnt1"
                     /gene_synonym="0610016I07Rik; 4930467B06Rik"
                     /inference="alignment:Splign:2.1.0"
     CDS             160..2142
                     /gene="Pomgnt1"
                     /gene_synonym="0610016I07Rik; 4930467B06Rik"
                     /EC_number="2.4.1.-"
                     /note="isoform 1 is encoded by transcript variant 1;
                     O-mannosyl N-acetylglucosaminyltransferase; protein
                     O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase
                     1"
                     /codon_start=1
                     /product="protein O-linked-mannose
                     beta-1,2-N-acetylglucosaminyltransferase 1 isoform 1"
                     /protein_id="NP_080927.1"
                     /db_xref="CCDS:CCDS18506.1"
                     /db_xref="GeneID:68273"
                     /db_xref="MGI:MGI:1915523"
                     /translation="MDDWKPSPLIKPFGARKKRSWYLTWKYKLTNQRALRRFCQTGAV
                     LFLLVTVIVNIKLILDTRRAISEANEDPEPEQDYDEALGRLESPRRRGSSPRRVLDVE
                     VYSSRSKVYVAVDGTTVLEDEAREQGRGIHVIVLNQATGHVMAKRVFDTYSPHEDEAM
                     VLFLNMVAPGRVLICTVKDEGSFHLKDTAKALLRSLGSQAGPALGWRDTWAFVGRKGG
                     PVLGEKHSKSPALSSWGDPVLLKTDVPLSSAEEAECHWADTELNRRRRRFCSKVEGYG
                     SVCSCKDPTPIEFSPDPLPDNKVLNVPVAVIAGNRPNYLYRMLRSLLSAQGVSPQMIT
                     VFIDGYYEEPMDVVALFGLRGIQHTPISIKNARVSQHYKASLTATFNLFPEAKFAVVL
                     EEDLDIAVDFFSFLSQSIHLLEEDDSLYCISAWNDQGYEHTAEDPALLYRVETMPGLG
                     WVLRKSLYKEELEPKWPTPEKLWDWDMWMRMPEQRRGRECIIPDVSRSYHFGIVGLNM
                     NGYFHEAYFKKHKFNTVPGVQLRNVDSLKKEAYEVEIHRLLSEAEVLDHSKDPCEDSF
                     LPDTEGHTYVAFIRMETDDDFATWTQLAKCLHIWDLDVRGNHRGLWRLFRKKNHFLVV
                     GVPASPYSVKKPPSVTPIFLEPPPKEEGAPGAAEQT"
     exon            280..394
                     /gene="Pomgnt1"
                     /gene_synonym="0610016I07Rik; 4930467B06Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            395..513
                     /gene="Pomgnt1"
                     /gene_synonym="0610016I07Rik; 4930467B06Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            514..579
                     /gene="Pomgnt1"
                     /gene_synonym="0610016I07Rik; 4930467B06Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            580..693
                     /gene="Pomgnt1"
                     /gene_synonym="0610016I07Rik; 4930467B06Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            694..811
                     /gene="Pomgnt1"
                     /gene_synonym="0610016I07Rik; 4930467B06Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            812..910
                     /gene="Pomgnt1"
                     /gene_synonym="0610016I07Rik; 4930467B06Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            911..1038
                     /gene="Pomgnt1"
                     /gene_synonym="0610016I07Rik; 4930467B06Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1039..1109
                     /gene="Pomgnt1"
                     /gene_synonym="0610016I07Rik; 4930467B06Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1110..1185
                     /gene="Pomgnt1"
                     /gene_synonym="0610016I07Rik; 4930467B06Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1186..1269
                     /gene="Pomgnt1"
                     /gene_synonym="0610016I07Rik; 4930467B06Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1270..1311
                     /gene="Pomgnt1"
                     /gene_synonym="0610016I07Rik; 4930467B06Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1312..1370
                     /gene="Pomgnt1"
                     /gene_synonym="0610016I07Rik; 4930467B06Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1371..1443
                     /gene="Pomgnt1"
                     /gene_synonym="0610016I07Rik; 4930467B06Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1444..1572
                     /gene="Pomgnt1"
                     /gene_synonym="0610016I07Rik; 4930467B06Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1573..1698
                     /gene="Pomgnt1"
                     /gene_synonym="0610016I07Rik; 4930467B06Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1699..1763
                     /gene="Pomgnt1"
                     /gene_synonym="0610016I07Rik; 4930467B06Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1764..1808
                     /gene="Pomgnt1"
                     /gene_synonym="0610016I07Rik; 4930467B06Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1809..1944
                     /gene="Pomgnt1"
                     /gene_synonym="0610016I07Rik; 4930467B06Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1945..2054
                     /gene="Pomgnt1"
                     /gene_synonym="0610016I07Rik; 4930467B06Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            2055..2719
                     /gene="Pomgnt1"
                     /gene_synonym="0610016I07Rik; 4930467B06Rik"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2699..2704
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Pomgnt1"
                     /gene_synonym="0610016I07Rik; 4930467B06Rik"
                     /note="hexamer: ATTAAA"
     polyA_site      2719
                     /gene="Pomgnt1"
                     /gene_synonym="0610016I07Rik; 4930467B06Rik"
                     /note="major polyA site"
ORIGIN      
        1 gagaggcatg gaggaggcgg aggccgcgga ggccgcggcg cgcggggccg agctgtgcgg
       61 gcccgagcgc ggcccgagcg gggcccgggg cccctgagcc tcccctcaga ttcctgaagt
      121 catggactgg ccgggacagg ggtgactccc taatccagta tggatgactg gaagcccagt
      181 cccctcatca agccctttgg ggctaggaag aaacggagct ggtaccttac ctggaagtat
      241 aaactgacaa accagcgggc cctgaggaga ttctgtcaga caggggctgt gcttttcctg
      301 ctggtgaccg tcattgtcaa catcaagttg atcctggaca ctcggagagc aatcagcgag
      361 gccaatgaag acccagaacc agagcaagac tatgatgagg ccctaggacg tctggagtcc
      421 cctcggcgca gaggcagcag tccccgacgg gtgctggatg tggaagtata ctccagtaga
      481 agcaaagtgt atgtggctgt ggatggcacc acggtgctcg aggatgaagc ccgggagcag
      541 ggccgaggca tccatgtcat agtcctcaac caggccacgg gccacgtgat ggcaaagcgc
      601 gtgtttgaca catactctcc tcatgaggat gaggccatgg tgctgttcct caacatggtg
      661 gcccccggcc gcgtgctgat ctgcacggtg aaggatgagg gttccttcca cctcaaggac
      721 acagcaaagg ctctgctgag gagcctggga agtcaggcag gccctgccct tggctggagg
      781 gacacctggg ccttcgtggg acgaaaagga ggtcctgtac ttggcgagaa acattctaaa
      841 tctcctgccc tctcctcctg gggtgaccca gtcctgctga agacagatgt gccactgagc
      901 tcagctgaag aggctgagtg tcactgggca gatacggagt tgaaccgccg ccgcaggcgc
      961 ttctgcagca aagtggaggg ctacgggagc gtgtgcagct gcaaggaccc gacgcctatt
     1021 gagttcagcc ctgacccact tccagacaat aaggtcctca atgtgcctgt ggctgtcatt
     1081 gcagggaacc ggcccaatta cctgtacagg atgctgcgct ctctgctctc agcccaaggg
     1141 gtatctccac agatgataac ggtcttcatt gatggctact atgaggagcc aatggatgtg
     1201 gtggcgctgt ttggtctgag aggcatccag catactccta tcagcatcaa gaacgcccgt
     1261 gtgtctcagc actacaaggc cagcctcact gccactttca acctgtttcc ggaggccaag
     1321 tttgctgtgg ttctggaaga ggacctggac attgccgtgg attttttcag tttcctgagc
     1381 cagtccatcc acctgctgga ggaagatgac agcctgtact gcatctctgc ctggaatgac
     1441 caggggtatg aacacacagc tgaggatcca gcactactgt accgtgtgga gaccatgcct
     1501 gggctaggat gggtgctcag gaaatcttta tacaaggagg agcttgagcc caagtggccc
     1561 acaccagaaa agctgtggga ttgggacatg tggatgcgga tgccggaaca gcgccggggc
     1621 cgagagtgta tcatcccgga tgtttcccga tcctaccact ttggcatcgt cggcctcaac
     1681 atgaacggct actttcatga ggcctacttc aagaagcaca agttcaacac agttccaggt
     1741 gtccagctca ggaatgtaga cagtctgaag aaagaagctt atgaagtgga aattcacaga
     1801 ctgctcagtg aggccgaggt tttggaccac agcaaggacc cttgtgaaga ctccttcctg
     1861 ccagacacgg agggccacac ctatgtggcg tttatccgaa tggagacaga tgatgacttc
     1921 gccacctgga ctcagcttgc caagtgcctc catatttggg acctggatgt tcgtggcaac
     1981 caccggggcc tgtggagatt atttcggaag aagaaccact ttttggtggt gggggtccca
     2041 gcctcccctt actcagtgaa gaagccacca tcagtcaccc ctattttcct ggagccaccc
     2101 ccaaaggaag aaggagcccc aggggctgct gaacaaacgt gaagcctcct ccaggactct
     2161 gcagggctgg gtactgtgta cccccagaca ggctagcccg ttgccctacc ctgtaggatt
     2221 tagtagatgc tggtaggggt agggctggtt tgtttttaac atggaattta attactaact
     2281 ccaaggggaa ggatcccctg ccccaacacc cctattcctg agtttaaggt ctatttattt
     2341 acttccttgt caaagaagag caggagagtt cccaggacct ctttgggatc cctgggtagc
     2401 tgatccactc ttttcatacc ctgtcctccc aggcctggct cagaacctat ttattgactg
     2461 tcctgggggc cttgggaata ggcccaaccc ggggccttta ttcctctctg gaccaggatg
     2521 ctgccctgag ggtgggactg gctcatactc aggaaaactg ttgtgcccaa ctgatggaca
     2581 ggcccatatg gggtccatgt gctgacagac tcacacagag acctttagac actggaccag
     2641 gtctcctctt agccttctct ttgtccagat ttccaaaact ggataaagat ggtcattgat
     2701 taaaaaagaa gaaaacctca aaaaaaaaaa aaaaaa
//
