LOCUS       NM_001289558            2509 bp    mRNA    linear   ROD 13-JUN-2024
DEFINITION  Mus musculus protein O-linked mannose beta
            1,4-N-acetylglucosaminyltransferase 2 (Pomgnt2), transcript variant
            1, mRNA.
ACCESSION   NM_001289558
VERSION     NM_001289558.2
KEYWORDS    RefSeq.
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 2509)
  AUTHORS   Nakagawa,N., Yagi,H., Kato,K., Takematsu,H. and Oka,S.
  TITLE     Ectopic clustering of Cajal-Retzius and subplate cells is an
            initial pathological feature in Pomgnt2-knockout mice, a model of
            dystroglycanopathy
  JOURNAL   Sci Rep 5, 11163 (2015)
   PUBMED   26060116
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2509)
  AUTHORS   Yagi,H., Nakagawa,N., Saito,T., Kiyonari,H., Abe,T., Toda,T.,
            Wu,S.W., Khoo,K.H., 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    GeneRIF: AGO61-KO mice lacked laminin-binding glycans and exhibited
            phenotypes similar to those of known dystroglycanopathy mutants, as
            reflected by abnormalities in neural migration and basal lamina
            formation.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2509)
  AUTHORS   Yoshida-Moriguchi,T., Willer,T., Anderson,M.E., Venzke,D.,
            Whyte,T., Muntoni,F., Lee,H., Nelson,S.F., Yu,L. and Campbell,K.P.
  TITLE     SGK196 is a glycosylation-specific O-mannose kinase required for
            dystroglycan function
  JOURNAL   Science 341 (6148), 896-899 (2013)
   PUBMED   23929950
REFERENCE   4  (bases 1 to 2509)
  AUTHORS   Manzini,M.C., Tambunan,D.E., Hill,R.S., Yu,T.W., Maynard,T.M.,
            Heinzen,E.L., Shianna,K.V., Stevens,C.R., Partlow,J.N., Barry,B.J.,
            Rodriguez,J., Gupta,V.A., Al-Qudah,A.K., Eyaid,W.M., Friedman,J.M.,
            Salih,M.A., Clark,R., Moroni,I., Mora,M., Beggs,A.H., Gabriel,S.B.
            and Walsh,C.A.
  TITLE     Exome sequencing and functional validation in zebrafish identify
            GTDC2 mutations as a cause of Walker-Warburg syndrome
  JOURNAL   Am J Hum Genet 91 (3), 541-547 (2012)
   PUBMED   22958903
REFERENCE   5  (bases 1 to 2509)
  AUTHORS   Sakaidani,Y., Ichiyanagi,N., Saito,C., Nomura,T., Ito,M.,
            Nishio,Y., Nadano,D., Matsuda,T., Furukawa,K. and Okajima,T.
  TITLE     O-linked-N-acetylglucosamine modification of mammalian Notch
            receptors by an atypical O-GlcNAc transferase Eogt1
  JOURNAL   Biochem Biophys Res Commun 419 (1), 14-19 (2012)
   PUBMED   22310717
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC164092.3.
            
            On Jun 9, 2022 this sequence version replaced NM_001289558.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1, 2, 3 and 4 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK042747.1, SRR7345562.2199031.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164131, SAMN01164132
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-137               AC164092.3         42524-42660
            138-188             AC164092.3         43419-43469
            189-294             AC164092.3         43586-43691
            295-2509            AC164092.3         54713-56927
FEATURES             Location/Qualifiers
     source          1..2509
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="9"
                     /map="9 72.78 cM"
     gene            1..2509
                     /gene="Pomgnt2"
                     /gene_synonym="Ago61; Gtdc2"
                     /note="protein O-linked mannose beta
                     1,4-N-acetylglucosaminyltransferase 2"
                     /db_xref="GeneID:215494"
                     /db_xref="MGI:MGI:2143424"
     exon            1..137
                     /gene="Pomgnt2"
                     /gene_synonym="Ago61; Gtdc2"
                     /inference="alignment:Splign:2.1.0"
     exon            138..188
                     /gene="Pomgnt2"
                     /gene_synonym="Ago61; Gtdc2"
                     /inference="alignment:Splign:2.1.0"
     exon            189..294
                     /gene="Pomgnt2"
                     /gene_synonym="Ago61; Gtdc2"
                     /inference="alignment:Splign:2.1.0"
     exon            295..2509
                     /gene="Pomgnt2"
                     /gene_synonym="Ago61; Gtdc2"
                     /inference="alignment:Splign:2.1.0"
     CDS             405..2147
                     /gene="Pomgnt2"
                     /gene_synonym="Ago61; Gtdc2"
                     /EC_number="2.4.1.312"
                     /note="glycosyltransferase-like domain-containing protein
                     2; glycosyltransferase-like domain containing 2"
                     /codon_start=1
                     /product="protein O-linked-mannose
                     beta-1,4-N-acetylglucosaminyltransferase 2"
                     /protein_id="NP_001276487.1"
                     /db_xref="CCDS:CCDS23643.1"
                     /db_xref="GeneID:215494"
                     /db_xref="MGI:MGI:2143424"
                     /translation="MHLSAVFNALLVSVLAAVLWKHVRLREHAATLEEELALGQQSLD
                     PVLGLKIDYPKALQILMEGGTHMVCTGRTHTDRICRFKWLCYSNEAEEFIFFHGNSSV
                     MLPNLGSRRFQPALLDLSTVEDHNAQYFNFVELPAAALRFMPKPVFVPDVALIANRFN
                     PDNLMHVFHDDLLPLFYTLRQFPGLAQEARLFFMEGWGEGAHFDLYKLLSPKQPLLRA
                     QLKTLGRLLCFSHAFVGLSKVTTWYQYGFVQPQGPKANILVSGNEIRQFTRFMTERLN
                     VSHAGAPLGEEYILVFSRTQNRLILNEAELLLELAQEFQMKTVTVSLEDHTFADVVRL
                     VSNASMLVSMHGAQLVTALFLPRGATVVELFPYAVNPDHYTPYKTLATLPGMDLQYVA
                     WRNMIRENTVTHPERPWDQGGITHLDRAEQARILQSREVPRHLCCRNPEWLFRIYQDT
                     RVDIPSLMQSIRRVVKGRPGPRRQRWAISLYPGKVREARCQASVQGATEARLSVSWQI
                     PWNLKYLKVREVKYEVWLQEQGENTYVPYMLTLQNHTFTENIKPFTTYLVWVRCIFNR
                     SLLGPFADVLVCST"
     regulatory      2487..2492
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Pomgnt2"
                     /gene_synonym="Ago61; Gtdc2"
                     /note="hexamer: ATTAAA"
     polyA_site      2509
                     /gene="Pomgnt2"
                     /gene_synonym="Ago61; Gtdc2"
                     /note="major polyA site"
ORIGIN      
        1 ccggagtttg agctcgccag cagggcaagc acactaggaa cacctgcgac accctgtcgg
       61 caggtgggca gcgcgggcat ctgtggcgca gctgggcccc gggctcggag cggacggggc
      121 acagagcccg gcttcagaca gagtgaaaaa agaccttctt tgaagaattg ctgtgaggct
      181 tccatgagac tagctgctct caggctttta ggatcagccg gccctttcac atgaaggatc
      241 cgagttccaa gtggtgacag agttagaaga gaactggata ctttatcctc agaggcattt
      301 tctggtcctc cagtagtaca cttagggatg gatgggtgaa gtcccccggg ctgtggcact
      361 gcccagcagc catcgtctcg ctgaggcccc ctggtggcga taggatgcac ctctctgccg
      421 tattcaacgc cctcctggta tcagtgctgg ctgcggtcct gtggaagcat gttcggttgc
      481 gggagcatgc ggccacgcta gaggaggagc tggcccttgg acagcagtcc ctggatccag
      541 tcctaggact gaagatcgac tacccgaagg ccctgcagat cctcatggag ggcggcaccc
      601 acatggtgtg cacaggccgc acccacacgg accgcatctg ccgcttcaag tggctctgct
      661 actccaatga ggccgaagaa ttcatctttt tccatggcaa ctcatctgtg atgctgccca
      721 acctgggctc ccggcgcttc cagccggccc tgctggacct gtccactgtg gaggaccata
      781 atgcccagta cttcaacttc gtggagctgc ccgctgcagc cctgcgcttc atgccaaagc
      841 cagtgttcgt gcctgatgta gccctcatcg ccaaccgctt caaccccgat aacctcatgc
      901 acgtctttca tgatgacctg ctcccactct tctacacact gaggcagttc cccggcctgg
      961 cccaagaggc ccggctcttt ttcatggagg gatggggtga gggtgcccac tttgacctct
     1021 ataaactcct cagccccaag cagccgcttc tacgtgcaca gctcaagaca ctgggccgac
     1081 tgctctgctt ttcccatgct ttcgtgggcc tgtccaaggt taccacctgg taccaatacg
     1141 gctttgtaca gccccagggc ccaaaagcca acatcctggt ctctggcaat gagatccggc
     1201 agttcacgcg cttcatgact gaaaggctga acgtgagcca cgcgggggcg cccctggggg
     1261 aggaatacat tctggtcttc agtcgcaccc agaacagact catcctgaac gaggcagagc
     1321 tgttgctgga gctggcacaa gagttccaga tgaagacggt tacagtgtcc ctggaggacc
     1381 acacctttgc tgatgtcgtg cggctggtca gcaatgcctc catgttggtc agcatgcatg
     1441 gggcccagct ggttacggcc ctcttcctgc cccgcggggc taccgtggtt gaactcttcc
     1501 cttacgctgt caatcctgac cactacaccc cctataagac gctggccaca ctgcctggca
     1561 tggacctgca gtatgtagcc tggcgaaaca tgatccggga gaacacagtc acacaccctg
     1621 agcgaccgtg ggaccaaggg ggcatcaccc acctggaccg ggctgagcag gcccgtatcc
     1681 tgcagagccg agaggtcccc cggcatctct gttgccggaa cccagagtgg ctattccgaa
     1741 tctaccagga caccagggtg gacatcccat cccttatgca atccattcgg cgtgtggtga
     1801 agggccggcc ggggccacgg aggcagaggt gggcaatcag cctgtacccg ggcaaggtgc
     1861 gggaggctcg atgtcaggcg tcagtgcagg gtgccaccga ggcccgcctg tctgtgtcct
     1921 ggcagatccc gtggaacctc aagtacctga aagtgaggga ggtgaaatac gaggtgtggc
     1981 tgcaggagca aggggagaac acgtatgtgc cttacatgct gaccctgcag aaccacacct
     2041 tcacagagaa catcaaacct tttaccacct acctggtgtg ggtccgctgt atatttaaca
     2101 ggagcctcct gggacctttt gcagatgtgc tggtgtgcag cacgtagcca gcagaccatg
     2161 gccaggcctc tggagggcac ctctcgcagc tcagctttcc caggtccaca gttctgctag
     2221 cagctgtggt gataaattat ctatttattg agtaggcttg cactaagcct gcttcccgag
     2281 tgtgcttttt gcagatttct ctagctctga agaggtggtg cctgccaggg cccggggatc
     2341 tgctcttgct aataaccatg ctgtttcctg ctttggcctt ggtgtaggtc ctggcctcga
     2401 gaaacagtgg tcacgtggtt ggtgggctag gcagataatc tttgaatttc atctgtagct
     2461 gagtgacagg tgtgtttgga gcagtcatta aatgattatg aacatcttg
//
