LOCUS       NM_001290129            2381 bp    mRNA    linear   PRI 13-OCT-2024
DEFINITION  Homo sapiens protein O-linked mannose
            N-acetylglucosaminyltransferase 1 (beta 1,2-) (POMGNT1), transcript
            variant 3, mRNA.
ACCESSION   NM_001290129
VERSION     NM_001290129.2
KEYWORDS    RefSeq.
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 2381)
  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 2381)
  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 2381)
  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 2381)
  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 2381)
  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 2381)
  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 2381)
  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 2381)
  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 2381)
  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 2381)
  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 AL672043.15.
            
            On Aug 13, 2020 this sequence version replaced NM_001290129.1.
            
            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 (3) differs in the 5' and 3' UTRs,
            lacks a portion of the 5' coding region, and initiates translation
            at a downstream start codon compared to variant 1. The resulting
            protein (isoform 3) is shorter and has a distinct N-terminus
            compared to isoform 1.
            
            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.
            
            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 :: AK302379.1, SRR14038194.3041205.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-192               AL672043.15        53089-53280         c
            193-307             AL672043.15        52751-52865         c
            308-426             AL672043.15        52512-52630         c
            427-492             AL672043.15        51793-51858         c
            493-606             AL672043.15        51592-51705         c
            607-724             AL672043.15        50625-50742         c
            725-823             AL672043.15        50334-50432         c
            824-951             AL672043.15        50055-50182         c
            952-1022            AL672043.15        49636-49706         c
            1023-1098           AL672043.15        49345-49420         c
            1099-1182           AL672043.15        49086-49169         c
            1183-1224           AL672043.15        48955-48996         c
            1225-1283           AL672043.15        48681-48739         c
            1284-1356           AL672043.15        48299-48371         c
            1357-1485           AL672043.15        48089-48217         c
            1486-1611           AL672043.15        47879-48004         c
            1612-1676           AL672043.15        46501-46565         c
            1677-1721           AL672043.15        46254-46298         c
            1722-1857           AL672043.15        45635-45770         c
            1858-1967           AL672043.15        45239-45348         c
            1968-2083           AL672043.15        45023-45138         c
            2084-2381           AL672043.15        44464-44761         c
FEATURES             Location/Qualifiers
     source          1..2381
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1"
     gene            1..2381
                     /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..192
                     /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             139..2055
                     /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 3 is encoded by transcript variant 3;
                     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 3"
                     /protein_id="NP_001277058.2"
                     /db_xref="GeneID:55624"
                     /db_xref="HGNC:HGNC:19139"
                     /db_xref="MIM:606822"
                     /translation="MEGTKEIKVSNRRIQEHWTGAVLFLLVTVIVNIKLILDTRRAIS
                     EANEDPEPEQDYDEALGRLEPPRRRGSGPRRVLDVEVYSSRSKVYVAVDGTTVLEDEA
                     REQGRGIHVIVLNQATGHVMAKRVFDTYSPHEDEAMVLFLNMVAPGRVLICTVKDEGS
                     FHLKDTAKALLRSLGSQAGPALGWRDTWAFVGRKGGPVFGEKHSKSPALSSWGDPVLL
                     KTDVPLSSAEEAECHWADTELNRRRRRFCSKVEGYGSVCSCKDPTPIEFSPDPLPDNK
                     VLNVPVAVIAGNRPNYLYRMLRSLLSAQGVSPQMITVFIDGYYEEPMDVVALFGLRGI
                     QHTPISIKNARVSQHYKASLTATFNLFPEAKFAVVLEEDLDIAVDFFSFLSQSIHLLE
                     EDDSLYCISAWNDQGYEHTAEDPALLYRVETMPGLGWVLRRSLYKEELEPKWPTPEKL
                     WDWDMWMRMPEQRRGRECIIPDVSRSYHFGIVGLNMNGYFHEAYFKKHKFNTVPGVQL
                     RNVDSLKKEAYEVEVHRLLSEAEVLDHSKNPCEDSFLPDTEGHTYVAFIRMEKDDDFT
                     TWTQLAKCLHIWDLDVRGNHRGLWRLFRKKNHFLMVGVPASPYSVKKPPSVTPIFLEP
                     PPKEEGAPGAPEQT"
     exon            193..307
                     /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            308..426
                     /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            427..492
                     /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            493..606
                     /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            607..724
                     /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            725..823
                     /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            824..951
                     /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            952..1022
                     /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            1023..1098
                     /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            1099..1182
                     /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            1183..1224
                     /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            1225..1283
                     /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            1284..1356
                     /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            1357..1485
                     /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            1486..1611
                     /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            1612..1676
                     /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            1677..1721
                     /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            1722..1857
                     /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            1858..1967
                     /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            1968..2083
                     /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            2084..2381
                     /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      2357..2362
                     /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      2381
                     /gene="POMGNT1"
                     /gene_synonym="GnT I.2; gnT-I.2; GNTI.2; LGMD2O; LGMDR15;
                     MEB; MGAT1.2; RP76"
                     /note="major polyA site"
ORIGIN      
        1 aagcttctga cggaagcctg aagtctgatc aggctggctt tgcagagagg cacacccctg
       61 tgaggcagtt agggccagga cccaggtctg atcccccgct tgggtccctg ggcctggctc
      121 catctctaga aaccaacaat ggaggggacc aaggaaatca aggtctcaaa tagaagaata
      181 caggagcact ggacaggggc cgtgcttttc ctgctggtga ctgtcattgt caatatcaag
      241 ttgatcctgg acactcggcg agccatcagt gaagccaatg aagacccaga gccagagcaa
      301 gactatgatg aggccctagg ccgcctggag cccccacggc gcagaggcag tggtccccgg
      361 cgggtcctgg acgtagaggt gtattcaagt cgcagcaaag tatatgtggc agtggatggc
      421 accacggtgc tggaggatga ggcccgggag cagggccggg gcatccatgt cattgtcctc
      481 aaccaggcca cgggccacgt gatggcaaaa cgtgtgtttg acacgtactc acctcatgag
      541 gatgaggcca tggtgctatt cctcaacatg gtagcgcccg gccgagtgct catctgcact
      601 gtcaaggatg agggctcctt ccacctcaag gacacagcca aggctctgct gaggagcctg
      661 ggcagccagg ctggccctgc cctgggctgg agggacacat gggccttcgt gggacgaaaa
      721 ggaggtcctg tcttcgggga gaaacattct aaatcacctg ccctctcttc ctggggggac
      781 ccagtcctgc tgaagacaga tgtgccattg agctcagcag aagaggcaga gtgccactgg
      841 gcagacacag agctgaaccg tcgccgccgg cgcttctgca gcaaagttga gggctatgga
      901 agtgtatgca gctgcaagga ccccacaccc atcgagttca gccctgaccc actcccagac
      961 aacaaggtcc tcaatgtgcc tgtggctgtc attgcaggga accgacccaa ttacctgtac
     1021 aggatgctgc gctctctgct ttcagcccag ggggtgtctc ctcagatgat aacagttttc
     1081 attgacggct actatgagga acccatggat gtggtggcac tgtttggtct gaggggcatc
     1141 cagcatactc ccatcagcat caagaatgcc cgcgtgtctc agcactacaa ggccagcctc
     1201 actgccactt tcaacctgtt tccggaggcc aagtttgctg tggttctgga agaggacctg
     1261 gacattgctg tggatttttt cagtttcctg agccaatcca tccacctact ggaggaggat
     1321 gacagcctgt actgcatctc tgcctggaat gaccaggggt atgaacacac ggctgaggac
     1381 ccagcactac tgtaccgtgt ggagaccatg cctgggctgg gctgggtgct caggaggtcc
     1441 ttgtacaagg aggagcttga gcccaagtgg cctacaccgg aaaagctctg ggattgggac
     1501 atgtggatgc ggatgcctga acaacgccgg ggccgagagt gcatcatccc tgacgtttcc
     1561 cgatcctacc actttggcat cgtcggcctc aacatgaatg gctactttca cgaggcctac
     1621 ttcaagaagc acaagttcaa cacggttcca ggtgtccagc tcaggaatgt ggacagtctg
     1681 aagaaagaag cttatgaagt ggaagttcac aggctgctca gtgaggctga ggttctggac
     1741 cacagcaaga acccttgtga agactctttc ctgccagaca cagagggcca cacctacgtg
     1801 gcctttattc gaatggagaa agatgatgac ttcaccacct ggacccagct tgccaagtgc
     1861 ctccatatct gggacctgga tgtgcgtggc aaccatcggg gcctgtggag attgtttcgg
     1921 aagaagaacc acttcctgat ggtgggggtc ccggcttccc cctactcagt gaagaagcca
     1981 ccctcagtca ccccaatttt cctggagcca cccccaaagg aggagggagc cccaggagcc
     2041 ccagaacaga catgagacct cctccaggac cctgcggggc tgggcctggc tcagaatcta
     2101 acctatttat tgactgtcct gagggccttg aaaacaggcc gaacctggag ggcctggatt
     2161 tctttttggg ctggaatgct gccctgaggg tggggctggc tcttactcag gaaactgctg
     2221 tgcccaaccc atggacaggc ccagctgggg cccacatgct gacacagact cactcagaga
     2281 cccttagaca ctggaccagg cctcctctca gccttctctt tgtccagatt tccaaagctg
     2341 gataagttgg tcattgatta aaaaaggaga agccctctgg g
//
