LOCUS       NM_017739               2719 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens protein O-linked mannose
            N-acetylglucosaminyltransferase 1 (beta 1,2-) (POMGNT1), transcript
            variant 1, mRNA.
ACCESSION   NM_017739
VERSION     NM_017739.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2719)
  AUTHORS   Li,M., Fu,H., Li,J., Meng,D., Zhang,Q. and Fei,D.
  TITLE     Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by
            prenatal whole-exome sequencing in three fetuses with congenital
            hydrocephalus
  JOURNAL   J Obstet Gynaecol Res 48 (10), 2624-2629 (2022)
   PUBMED   35843586
  REMARK    GeneRIF: Compound variants of FKTN, POMGNT1, and LAMB1 gene
            identified by prenatal whole-exome sequencing in three fetuses with
            congenital hydrocephalus.
REFERENCE   2  (bases 1 to 2719)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 2719)
  AUTHORS   Mohammadi,P., Daneshmand,M.A., Mahdieh,N., Ashrafi,M.R., Heidari,M.
            and Garshasbi,M.
  TITLE     Identification of a novel missense c.386G > A variant in a boy with
            the POMGNT1-related muscular dystrophy-dystroglycanopathy
  JOURNAL   Acta Neurol Belg 121 (1), 143-151 (2021)
   PUBMED   33175337
  REMARK    GeneRIF: Identification of a novel missense c.386G > A variant in a
            boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy.
REFERENCE   4  (bases 1 to 2719)
  AUTHORS   Noor,S.I., Hoffmann,M., Rinis,N., Bartels,M.F., Winterhalter,P.R.,
            Hoelscher,C., Hennig,R., Himmelreich,N., Thiel,C., Ruppert,T.,
            Rapp,E. and Strahl,S.
  TITLE     Glycosyltransferase POMGNT1 deficiency strengthens
            N-cadherin-mediated cell-cell adhesion
  JOURNAL   J Biol Chem 296, 100433 (2021)
   PUBMED   33610554
  REMARK    GeneRIF: Glycosyltransferase POMGNT1 deficiency strengthens
            N-cadherin-mediated cell-cell adhesion.
REFERENCE   5  (bases 1 to 2719)
  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   6  (bases 1 to 2719)
  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
REFERENCE   7  (bases 1 to 2719)
  AUTHORS   Cormand,B., Avela,K., Pihko,H., Santavuori,P., Talim,B.,
            Topaloglu,H., de la Chapelle,A. and Lehesjoki,A.E.
  TITLE     Assignment of the muscle-eye-brain disease gene to 1p32-p34 by
            linkage analysis and homozygosity mapping
  JOURNAL   Am J Hum Genet 64 (1), 126-135 (1999)
   PUBMED   9915951
REFERENCE   8  (bases 1 to 2719)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   9  (bases 1 to 2719)
  AUTHORS   Pegoraro,E. and Hoffman,E.P.
  TITLE     Limb-Girdle Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301582
REFERENCE   10 (bases 1 to 2719)
  AUTHORS   Sparks,S.E., Quijano-Roy,S., Harper,A., Rutkowski,A., Gordon,E.,
            Hoffman,E.P. and Pegoraro,E.
  TITLE     Congenital Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301468
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA187331.1, AB057356.1,
            AL672043.15, BC001471.2 and BQ448444.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 24, 2020 this sequence version replaced NM_017739.3.
            
            Summary: This gene encodes a type II transmembrane protein that
            resides in the Golgi apparatus. It participates in O-mannosyl
            glycosylation and is specific for alpha linked terminal mannose.
            Mutations in this gene may be associated with muscle-eye-brain
            disease and several congenital muscular dystrophies. Alternatively
            spliced transcript variants that encode different protein isoforms
            have been described. [provided by RefSeq, Feb 2014].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript and encodes 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 :: AY358592.1, AK000284.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371984.8/ ENSP00000361052.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-516               DA187331.1         16-531
            517-2015            AB057356.1         462-1960
            2016-2016           AL672043.15        45267-45267         c
            2017-2449           AB057356.1         1962-2394
            2450-2717           BC001471.2         2459-2726
            2718-2719           BQ448444.1         20-21               c
FEATURES             Location/Qualifiers
     source          1..2719
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1"
     gene            1..2719
                     /gene="POMGNT1"
                     /gene_synonym="GnT I.2; gnT-I.2; GNTI.2; LGMD2O; LGMDR15;
                     MEB; MGAT1.2; RP76"
                     /note="protein O-linked mannose
                     N-acetylglucosaminyltransferase 1 (beta 1,2-)"
                     /db_xref="GeneID:55624"
                     /db_xref="HGNC:HGNC:19139"
                     /db_xref="MIM:606822"
     exon            1..99
                     /gene="POMGNT1"
                     /gene_synonym="GnT I.2; gnT-I.2; GNTI.2; LGMD2O; LGMDR15;
                     MEB; MGAT1.2; RP76"
                     /inference="alignment:Splign:2.1.0"
     exon            100..269
                     /gene="POMGNT1"
                     /gene_synonym="GnT I.2; gnT-I.2; GNTI.2; LGMD2O; LGMDR15;
                     MEB; MGAT1.2; RP76"
                     /inference="alignment:Splign:2.1.0"
     CDS             150..2132
                     /gene="POMGNT1"
                     /gene_synonym="GnT I.2; gnT-I.2; GNTI.2; LGMD2O; LGMDR15;
                     MEB; MGAT1.2; RP76"
                     /EC_number="2.4.1.-"
                     /note="isoform 1 is encoded by transcript variant 1;
                     UDP-GlcNAc:alpha-D-mannoside
                     beta-1,2-N-acetylglucosaminyltransferase I.2; 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_060209.4"
                     /db_xref="CCDS:CCDS531.1"
                     /db_xref="GeneID:55624"
                     /db_xref="HGNC:HGNC:19139"
                     /db_xref="MIM:606822"
                     /translation="MDDWKPSPLIKPFGARKKRSWYLTWKYKLTNQRALRRFCQTGAV
                     LFLLVTVIVNIKLILDTRRAISEANEDPEPEQDYDEALGRLEPPRRRGSGPRRVLDVE
                     VYSSRSKVYVAVDGTTVLEDEAREQGRGIHVIVLNQATGHVMAKRVFDTYSPHEDEAM
                     VLFLNMVAPGRVLICTVKDEGSFHLKDTAKALLRSLGSQAGPALGWRDTWAFVGRKGG
                     PVFGEKHSKSPALSSWGDPVLLKTDVPLSSAEEAECHWADTELNRRRRRFCSKVEGYG
                     SVCSCKDPTPIEFSPDPLPDNKVLNVPVAVIAGNRPNYLYRMLRSLLSAQGVSPQMIT
                     VFIDGYYEEPMDVVALFGLRGIQHTPISIKNARVSQHYKASLTATFNLFPEAKFAVVL
                     EEDLDIAVDFFSFLSQSIHLLEEDDSLYCISAWNDQGYEHTAEDPALLYRVETMPGLG
                     WVLRRSLYKEELEPKWPTPEKLWDWDMWMRMPEQRRGRECIIPDVSRSYHFGIVGLNM
                     NGYFHEAYFKKHKFNTVPGVQLRNVDSLKKEAYEVEVHRLLSEAEVLDHSKNPCEDSF
                     LPDTEGHTYVAFIRMEKDDDFTTWTQLAKCLHIWDLDVRGNHRGLWRLFRKKNHFLMV
                     GVPASPYSVKKPPSVTPIFLEPPPKEEGAPGAPEQT"
     exon            270..384
                     /gene="POMGNT1"
                     /gene_synonym="GnT I.2; gnT-I.2; GNTI.2; LGMD2O; LGMDR15;
                     MEB; MGAT1.2; RP76"
                     /inference="alignment:Splign:2.1.0"
     exon            385..503
                     /gene="POMGNT1"
                     /gene_synonym="GnT I.2; gnT-I.2; GNTI.2; LGMD2O; LGMDR15;
                     MEB; MGAT1.2; RP76"
                     /inference="alignment:Splign:2.1.0"
     exon            504..569
                     /gene="POMGNT1"
                     /gene_synonym="GnT I.2; gnT-I.2; GNTI.2; LGMD2O; LGMDR15;
                     MEB; MGAT1.2; RP76"
                     /inference="alignment:Splign:2.1.0"
     exon            570..683
                     /gene="POMGNT1"
                     /gene_synonym="GnT I.2; gnT-I.2; GNTI.2; LGMD2O; LGMDR15;
                     MEB; MGAT1.2; RP76"
                     /inference="alignment:Splign:2.1.0"
     exon            684..801
                     /gene="POMGNT1"
                     /gene_synonym="GnT I.2; gnT-I.2; GNTI.2; LGMD2O; LGMDR15;
                     MEB; MGAT1.2; RP76"
                     /inference="alignment:Splign:2.1.0"
     exon            802..900
                     /gene="POMGNT1"
                     /gene_synonym="GnT I.2; gnT-I.2; GNTI.2; LGMD2O; LGMDR15;
                     MEB; MGAT1.2; RP76"
                     /inference="alignment:Splign:2.1.0"
     exon            901..1028
                     /gene="POMGNT1"
                     /gene_synonym="GnT I.2; gnT-I.2; GNTI.2; LGMD2O; LGMDR15;
                     MEB; MGAT1.2; RP76"
                     /inference="alignment:Splign:2.1.0"
     exon            1029..1099
                     /gene="POMGNT1"
                     /gene_synonym="GnT I.2; gnT-I.2; GNTI.2; LGMD2O; LGMDR15;
                     MEB; MGAT1.2; RP76"
                     /inference="alignment:Splign:2.1.0"
     exon            1100..1175
                     /gene="POMGNT1"
                     /gene_synonym="GnT I.2; gnT-I.2; GNTI.2; LGMD2O; LGMDR15;
                     MEB; MGAT1.2; RP76"
                     /inference="alignment:Splign:2.1.0"
     exon            1176..1259
                     /gene="POMGNT1"
                     /gene_synonym="GnT I.2; gnT-I.2; GNTI.2; LGMD2O; LGMDR15;
                     MEB; MGAT1.2; RP76"
                     /inference="alignment:Splign:2.1.0"
     exon            1260..1301
                     /gene="POMGNT1"
                     /gene_synonym="GnT I.2; gnT-I.2; GNTI.2; LGMD2O; LGMDR15;
                     MEB; MGAT1.2; RP76"
                     /inference="alignment:Splign:2.1.0"
     exon            1302..1360
                     /gene="POMGNT1"
                     /gene_synonym="GnT I.2; gnT-I.2; GNTI.2; LGMD2O; LGMDR15;
                     MEB; MGAT1.2; RP76"
                     /inference="alignment:Splign:2.1.0"
     exon            1361..1433
                     /gene="POMGNT1"
                     /gene_synonym="GnT I.2; gnT-I.2; GNTI.2; LGMD2O; LGMDR15;
                     MEB; MGAT1.2; RP76"
                     /inference="alignment:Splign:2.1.0"
     exon            1434..1562
                     /gene="POMGNT1"
                     /gene_synonym="GnT I.2; gnT-I.2; GNTI.2; LGMD2O; LGMDR15;
                     MEB; MGAT1.2; RP76"
                     /inference="alignment:Splign:2.1.0"
     exon            1563..1688
                     /gene="POMGNT1"
                     /gene_synonym="GnT I.2; gnT-I.2; GNTI.2; LGMD2O; LGMDR15;
                     MEB; MGAT1.2; RP76"
                     /inference="alignment:Splign:2.1.0"
     exon            1689..1753
                     /gene="POMGNT1"
                     /gene_synonym="GnT I.2; gnT-I.2; GNTI.2; LGMD2O; LGMDR15;
                     MEB; MGAT1.2; RP76"
                     /inference="alignment:Splign:2.1.0"
     exon            1754..1798
                     /gene="POMGNT1"
                     /gene_synonym="GnT I.2; gnT-I.2; GNTI.2; LGMD2O; LGMDR15;
                     MEB; MGAT1.2; RP76"
                     /inference="alignment:Splign:2.1.0"
     exon            1799..1934
                     /gene="POMGNT1"
                     /gene_synonym="GnT I.2; gnT-I.2; GNTI.2; LGMD2O; LGMDR15;
                     MEB; MGAT1.2; RP76"
                     /inference="alignment:Splign:2.1.0"
     exon            1935..2044
                     /gene="POMGNT1"
                     /gene_synonym="GnT I.2; gnT-I.2; GNTI.2; LGMD2O; LGMDR15;
                     MEB; MGAT1.2; RP76"
                     /inference="alignment:Splign:2.1.0"
     exon            2045..2719
                     /gene="POMGNT1"
                     /gene_synonym="GnT I.2; gnT-I.2; GNTI.2; LGMD2O; LGMDR15;
                     MEB; MGAT1.2; RP76"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2695..2700
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POMGNT1"
                     /gene_synonym="GnT I.2; gnT-I.2; GNTI.2; LGMD2O; LGMDR15;
                     MEB; MGAT1.2; RP76"
                     /note="hexamer: ATTAAA"
     polyA_site      2719
                     /gene="POMGNT1"
                     /gene_synonym="GnT I.2; gnT-I.2; GNTI.2; LGMD2O; LGMDR15;
                     MEB; MGAT1.2; RP76"
                     /note="major polyA site"
ORIGIN      
        1 ggggccgcaa gcggcatgga ggaggcggag gccgcggcga gccgggccga gcagtgaggg
       61 ccctagcggg gcccgagcgg ggcccggggc ccctaagcca ttcctgaagt catgggctgg
      121 ccaggacatt ggtgacccgc caatccggta tggacgactg gaagcccagc cccctcatca
      181 agccctttgg ggctcggaag aagcggagct ggtaccttac ctggaagtat aaactgacaa
      241 accagcgggc cctgcggaga ttctgtcaga caggggccgt gcttttcctg ctggtgactg
      301 tcattgtcaa tatcaagttg atcctggaca ctcggcgagc catcagtgaa gccaatgaag
      361 acccagagcc agagcaagac tatgatgagg ccctaggccg cctggagccc ccacggcgca
      421 gaggcagtgg tccccggcgg gtcctggacg tagaggtgta ttcaagtcgc agcaaagtat
      481 atgtggcagt ggatggcacc acggtgctgg aggatgaggc ccgggagcag ggccggggca
      541 tccatgtcat tgtcctcaac caggccacgg gccacgtgat ggcaaaacgt gtgtttgaca
      601 cgtactcacc tcatgaggat gaggccatgg tgctattcct caacatggta gcgcccggcc
      661 gagtgctcat ctgcactgtc aaggatgagg gctccttcca cctcaaggac acagccaagg
      721 ctctgctgag gagcctgggc agccaggctg gccctgccct gggctggagg gacacatggg
      781 ccttcgtggg acgaaaagga ggtcctgtct tcggggagaa acattctaaa tcacctgccc
      841 tctcttcctg gggggaccca gtcctgctga agacagatgt gccattgagc tcagcagaag
      901 aggcagagtg ccactgggca gacacagagc tgaaccgtcg ccgccggcgc ttctgcagca
      961 aagttgaggg ctatggaagt gtatgcagct gcaaggaccc cacacccatc gagttcagcc
     1021 ctgacccact cccagacaac aaggtcctca atgtgcctgt ggctgtcatt gcagggaacc
     1081 gacccaatta cctgtacagg atgctgcgct ctctgctttc agcccagggg gtgtctcctc
     1141 agatgataac agttttcatt gacggctact atgaggaacc catggatgtg gtggcactgt
     1201 ttggtctgag gggcatccag catactccca tcagcatcaa gaatgcccgc gtgtctcagc
     1261 actacaaggc cagcctcact gccactttca acctgtttcc ggaggccaag tttgctgtgg
     1321 ttctggaaga ggacctggac attgctgtgg attttttcag tttcctgagc caatccatcc
     1381 acctactgga ggaggatgac agcctgtact gcatctctgc ctggaatgac caggggtatg
     1441 aacacacggc tgaggaccca gcactactgt accgtgtgga gaccatgcct gggctgggct
     1501 gggtgctcag gaggtccttg tacaaggagg agcttgagcc caagtggcct acaccggaaa
     1561 agctctggga ttgggacatg tggatgcgga tgcctgaaca acgccggggc cgagagtgca
     1621 tcatccctga cgtttcccga tcctaccact ttggcatcgt cggcctcaac atgaatggct
     1681 actttcacga ggcctacttc aagaagcaca agttcaacac ggttccaggt gtccagctca
     1741 ggaatgtgga cagtctgaag aaagaagctt atgaagtgga agttcacagg ctgctcagtg
     1801 aggctgaggt tctggaccac agcaagaacc cttgtgaaga ctctttcctg ccagacacag
     1861 agggccacac ctacgtggcc tttattcgaa tggagaaaga tgatgacttc accacctgga
     1921 cccagcttgc caagtgcctc catatctggg acctggatgt gcgtggcaac catcggggcc
     1981 tgtggagatt gtttcggaag aagaaccact tcctgatggt gggggtcccg gcttccccct
     2041 actcagtgaa gaagccaccc tcagtcaccc caattttcct ggagccaccc ccaaaggagg
     2101 agggagcccc aggagcccca gaacagacat gagacctcct ccaggaccct gcggggctgg
     2161 gtactgtgta cccccaggct ggctagccct tccctccatc ctgtaggatt ttgtagatgc
     2221 tggtaggggc tggggctacc ttgtttttaa catgagactt aattactaac tccaagggga
     2281 gggttcccct gctccaacac cccgttcctg agttaaaagt ctatttattt acttccttgt
     2341 tggagaaggg caggagagta cctgggaatc attacgatcc ctagcagctc atcctgccct
     2401 ttgaataccc tcactttcca ggcctggctc agaatctaac ctatttattg actgtcctga
     2461 gggccttgaa aacaggccga acctggaggg cctggatttc tttttgggct ggaatgctgc
     2521 cctgagggtg gggctggctc ttactcagga aactgctgtg cccaacccat ggacaggccc
     2581 agctggggcc cacatgctga cacagactca ctcagagacc cttagacact ggaccaggcc
     2641 tcctctcagc cttctctttg tccagatttc caaagctgga taagttggtc attgattaaa
     2701 aaaggagaag ccctctggg
//
