LOCUS       NM_001382               1913 bp    mRNA    linear   PRI 27-APR-2025
DEFINITION  Homo sapiens dolichyl-phosphate
            N-acetylglucosaminephosphotransferase 1 (DPAGT1), mRNA.
ACCESSION   NM_001382
VERSION     NM_001382.4
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 1913)
  AUTHORS   Tao,H., Sun,Y., Zhai,J. and Wu,J.
  TITLE     DPAGT1-CDG: Recurrent fetal death
  JOURNAL   Birth Defects Res 115 (13), 1185-1191 (2023)
   PUBMED   37421173
  REMARK    GeneRIF: DPAGT1-CDG: Recurrent fetal death.
REFERENCE   2  (bases 1 to 1913)
  AUTHORS   Cheli,M., Brugnoni,R., Gibertini,S., Mantegazza,R. and Maggi,L.
  TITLE     Novel DPAGT1 Gene Mutation in Two Twins with Congenital Myasthenic
            Syndrome and a Review of the Literature
  JOURNAL   J Neuromuscul Dis 10 (3), 449-458 (2023)
   PUBMED   37005892
  REMARK    GeneRIF: Novel DPAGT1 Gene Mutation in Two Twins with Congenital
            Myasthenic Syndrome and a Review of the Literature.
            Review article
REFERENCE   3  (bases 1 to 1913)
  AUTHORS   Yoshimoto,S., Morita,H., Matsuda,M., Katakura,Y., Hirata,M. and
            Hashimoto,S.
  TITLE     NFAT5 promotes oral squamous cell carcinoma progression in a
            hyperosmotic environment
  JOURNAL   Lab Invest 101 (1), 38-50 (2021)
   PUBMED   32901097
  REMARK    GeneRIF: NFAT5 promotes oral squamous cell carcinoma progression in
            a hyperosmotic environment.
REFERENCE   4  (bases 1 to 1913)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 1913)
  AUTHORS   Yasugi,E., Nakasuji,M., Dohi,T. and Oshima,M.
  TITLE     Major defect of carbohydrate-deficient-glycoprotein syndrome is not
            found in the synthesis of dolichyl phosphate or
            N-acetylglucosaminyl-pyrophosphoryl-dolichol
  JOURNAL   Biochem Biophys Res Commun 200 (2), 816-820 (1994)
   PUBMED   8179616
REFERENCE   6  (bases 1 to 1913)
  AUTHORS   Smith,M.W., Clark,S.P., Hutchinson,J.S., Wei,Y.H., Churukian,A.C.,
            Daniels,L.B., Diggle,K.L., Gen,M.W., Romo,A.J., Lin,Y. et al.
  TITLE     A sequence-tagged site map of human chromosome 11
  JOURNAL   Genomics 17 (3), 699-725 (1993)
   PUBMED   8244387
REFERENCE   7  (bases 1 to 1913)
  AUTHORS   Sparks,S.E. and Krasnewich,D.M.
  TITLE     Congenital Disorders of N-Linked Glycosylation and Multiple Pathway
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301507
REFERENCE   8  (bases 1 to 1913)
  AUTHORS   Abicht,A., Muller,J.S. and Lochmuller,H.
  TITLE     Congenital Myasthenic Syndromes Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301347
REFERENCE   9  (bases 1 to 1913)
  AUTHORS   Volpe,J.J., Sakakihara,Y. and Ishii,S.
  TITLE     Dolichol-linked glycoprotein synthesis in developing mammalian
            brain: maturational changes of the
            N-acetylglucosaminylphosphotransferase
  JOURNAL   Brain Res 430 (2), 277-284 (1987)
   PUBMED   3038274
REFERENCE   10 (bases 1 to 1913)
  AUTHORS   Varki,A., Reitman,M.L., Vannier,A., Kornfeld,S., Grubb,J.H. and
            Sly,W.S.
  TITLE     Demonstration of the heterozygous state for I-cell disease and
            pseudo-Hurler polydystrophy by assay of
            N-acetylglucosaminylphosphotransferase in white blood cells and
            fibroblasts
  JOURNAL   Am J Hum Genet 34 (5), 717-729 (1982)
   PUBMED   6289658
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA023424.1 and BC000325.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_001382.3.
            
            Summary: The protein encoded by this gene is an enzyme that
            catalyzes the first step in the dolichol-linked oligosaccharide
            pathway for glycoprotein biosynthesis. This enzyme belongs to the
            glycosyltransferase family 4. This protein is an integral membrane
            protein of the endoplasmic reticulum. The congenital disorder of
            glycosylation type Ij is caused by mutation in the gene encoding
            this enzyme. [provided by RefSeq, Jul 2008].
            
            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 :: SRR5189664.56647.1,
                                           SRR1660803.14771.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000354202.9/ ENSP00000346142.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-321               DA023424.1         239-559
            322-1913            BC000325.2         292-1883
FEATURES             Location/Qualifiers
     source          1..1913
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     gene            1..1913
                     /gene="DPAGT1"
                     /gene_synonym="ALG7; CDG-Ij; CDG1J; CMS13; CMSTA2;
                     D11S366; DGPT; DPAGT; DPAGT2; G1PT; GPT; UAGT; UGAT"
                     /note="dolichyl-phosphate
                     N-acetylglucosaminephosphotransferase 1"
                     /db_xref="GeneID:1798"
                     /db_xref="HGNC:HGNC:2995"
                     /db_xref="MIM:191350"
     exon            1..359
                     /gene="DPAGT1"
                     /gene_synonym="ALG7; CDG-Ij; CDG1J; CMS13; CMSTA2;
                     D11S366; DGPT; DPAGT; DPAGT2; G1PT; GPT; UAGT; UGAT"
                     /inference="alignment:Splign:2.1.0"
     CDS             199..1425
                     /gene="DPAGT1"
                     /gene_synonym="ALG7; CDG-Ij; CDG1J; CMS13; CMSTA2;
                     D11S366; DGPT; DPAGT; DPAGT2; G1PT; GPT; UAGT; UGAT"
                     /EC_number="2.7.8.15"
                     /note="UDP-GlcNAc:dolichyl-phosphate
                     N-acetylglucosaminephosphotransferase;
                     N-acetylglucosamine-1-phosphate transferase; GlcNAc-1-P
                     transferase 1; dolichyl-phosphate
                     alpha-N-acetylglucosaminyltransferase; dolichyl-phosphate
                     (UDP-N-acetylglucosamine)
                     N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P tra;
                     dolichyl-phosphate (UDP-N-acetylglucosamine)
                     N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P
                     transferase); UDP-N-acetylglucosamine--dolichyl-phosphate
                     N-acetylglucosaminephosphotransferase 1"
                     /codon_start=1
                     /product="UDP-N-acetylglucosamine--dolichyl-phosphate
                     N-acetylglucosaminephosphotransferase"
                     /protein_id="NP_001373.2"
                     /db_xref="CCDS:CCDS8411.1"
                     /db_xref="GeneID:1798"
                     /db_xref="HGNC:HGNC:2995"
                     /db_xref="MIM:191350"
                     /translation="MWAFSELPMPLLINLIVSLLGFVATVTLIPAFRGHFIAARLCGQ
                     DLNKTSRQQIPESQGVISGAVFLIILFCFIPFPFLNCFVKEQCKAFPHHEFVALIGAL
                     LAICCMIFLGFADDVLNLRWRHKLLLPTAASLPLLMVYFTNFGNTTIVVPKPFRPILG
                     LHLDLGILYYVYMGLLAVFCTNAINILAGINGLEAGQSLVISASIIVFNLVELEGDCR
                     DDHVFSLYFMIPFFFTTLGLLYHNWYPSRVFVGDTFCYFAGMTFAVVGILGHFSKTML
                     LFFMPQVFNFLYSLPQLLHIIPCPRHRIPRLNIKTGKLEMSYSKFKTKSLSFLGTFIL
                     KVAESLQLVTVHQSETEDGEFTECNNMTLINLLLKVLGPIHERNLTLLLLLLQILGSA
                     ITFSIRYQLVRLFYDV"
     exon            360..480
                     /gene="DPAGT1"
                     /gene_synonym="ALG7; CDG-Ij; CDG1J; CMS13; CMSTA2;
                     D11S366; DGPT; DPAGT; DPAGT2; G1PT; GPT; UAGT; UGAT"
                     /inference="alignment:Splign:2.1.0"
     exon            481..694
                     /gene="DPAGT1"
                     /gene_synonym="ALG7; CDG-Ij; CDG1J; CMS13; CMSTA2;
                     D11S366; DGPT; DPAGT; DPAGT2; G1PT; GPT; UAGT; UGAT"
                     /inference="alignment:Splign:2.1.0"
     exon            695..841
                     /gene="DPAGT1"
                     /gene_synonym="ALG7; CDG-Ij; CDG1J; CMS13; CMSTA2;
                     D11S366; DGPT; DPAGT; DPAGT2; G1PT; GPT; UAGT; UGAT"
                     /inference="alignment:Splign:2.1.0"
     exon            842..926
                     /gene="DPAGT1"
                     /gene_synonym="ALG7; CDG-Ij; CDG1J; CMS13; CMSTA2;
                     D11S366; DGPT; DPAGT; DPAGT2; G1PT; GPT; UAGT; UGAT"
                     /inference="alignment:Splign:2.1.0"
     exon            927..1115
                     /gene="DPAGT1"
                     /gene_synonym="ALG7; CDG-Ij; CDG1J; CMS13; CMSTA2;
                     D11S366; DGPT; DPAGT; DPAGT2; G1PT; GPT; UAGT; UGAT"
                     /inference="alignment:Splign:2.1.0"
     exon            1116..1203
                     /gene="DPAGT1"
                     /gene_synonym="ALG7; CDG-Ij; CDG1J; CMS13; CMSTA2;
                     D11S366; DGPT; DPAGT; DPAGT2; G1PT; GPT; UAGT; UGAT"
                     /inference="alignment:Splign:2.1.0"
     exon            1204..1359
                     /gene="DPAGT1"
                     /gene_synonym="ALG7; CDG-Ij; CDG1J; CMS13; CMSTA2;
                     D11S366; DGPT; DPAGT; DPAGT2; G1PT; GPT; UAGT; UGAT"
                     /inference="alignment:Splign:2.1.0"
     exon            1360..1913
                     /gene="DPAGT1"
                     /gene_synonym="ALG7; CDG-Ij; CDG1J; CMS13; CMSTA2;
                     D11S366; DGPT; DPAGT; DPAGT2; G1PT; GPT; UAGT; UGAT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1891..1896
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DPAGT1"
                     /gene_synonym="ALG7; CDG-Ij; CDG1J; CMS13; CMSTA2;
                     D11S366; DGPT; DPAGT; DPAGT2; G1PT; GPT; UAGT; UGAT"
                     /note="hexamer: AATAAA"
     polyA_site      1913
                     /gene="DPAGT1"
                     /gene_synonym="ALG7; CDG-Ij; CDG1J; CMS13; CMSTA2;
                     D11S366; DGPT; DPAGT; DPAGT2; G1PT; GPT; UAGT; UGAT"
                     /note="major polyA site"
ORIGIN      
        1 agaacatagg ttgccttaga gaggttcccc ggtgtcccga cggcggctca agtcagagtt
       61 gctgggtttt gctcagattg gtgtgggaag agcctgcctg tggggagcgg ccactccata
      121 ctgctgaggc ctcaggactg ctgctcagct tgcccgttac ctgaagaggc ggcggagccg
      181 ggcccctgac cggtcaccat gtgggccttc tcggaattgc ccatgccgct gctgatcaat
      241 ttgatcgtct cgctgctggg atttgtggcc acagtcaccc tcatcccggc cttccggggc
      301 cacttcattg ctgcgcgcct ctgtggtcag gacctcaaca aaaccagccg acagcagatc
      361 ccagaatccc agggagtgat cagcggtgct gttttcctta tcatcctctt ctgcttcatc
      421 cctttcccct tcctgaactg ctttgtgaag gagcagtgta aggcattccc ccaccatgaa
      481 tttgtggccc tgataggtgc cctccttgcc atctgctgca tgatcttcct gggctttgcg
      541 gatgatgtac tgaatctgcg ctggcgccat aagctgctgc tacctacagc tgcctcacta
      601 cctctcctca tggtctattt caccaacttt ggcaacacga ccattgtggt gcccaagccc
      661 ttccgcccga tacttggcct gcatctggac ttgggaatcc tgtactatgt ctacatgggg
      721 ctgctggcag tgttctgtac caatgccatc aatatcctag caggaattaa cggcctagag
      781 gctggccagt cactagtcat ttctgcttcc atcattgtct tcaacctggt agagttggaa
      841 ggtgattgtc gggatgatca tgtcttttcc ctctacttca tgataccctt ttttttcacc
      901 actttgggat tgctctacca caactggtac ccatcacggg tgtttgtggg agataccttc
      961 tgttactttg ctggcatgac ctttgccgtg gtgggcatct tgggacactt cagcaagacc
     1021 atgctactat tcttcatgcc ccaggtgttc aacttcctct actcactgcc tcagctcctg
     1081 catatcatcc cctgccctcg ccaccgcata cccagactca atatcaagac aggcaaactg
     1141 gagatgagct attccaagtt caagaccaag agcctctctt tcttgggcac ctttatttta
     1201 aaggtggcag agagcctcca gctggtgaca gtacaccaga gtgagactga agatggtgaa
     1261 ttcactgaat gtaacaacat gaccctcatc aacttgctac ttaaagtcct tgggcccata
     1321 catgagagaa acctcacatt gctcctgctg ctgctgcaga tcctgggcag tgccatcacc
     1381 ttctccattc gatatcagct cgttcgactc ttctatgatg tctgagtccc ttgatcattg
     1441 tcctttacct cacagtctct aggattcctg actcaggctg acctctctct ctggtcccag
     1501 actgcctcct tgcccaggcc tctctcactc ttcatactcc tccagatttt gttctcagca
     1561 ttttcctttc tctgtgatca ttggcatcct gggcgtttct tgccctctgc tgactactga
     1621 ttggatttta cctatggctt tctgcaactt gctactctct ccctctccat cccatctttg
     1681 cagcctcata gggtgggata cagcagcttt ttttgcagtt atccacactc acatttcaga
     1741 gtcctgactc tcaaggaacc actggttttt gggatagaac ttgggccagg gctaggaaca
     1801 caggctccac ggtgacatgt catttgattg taaattaagt gttctgatta gtaagaacta
     1861 agcagggggc cacatgctct caatggagac aataaagtgt tgtctttttc tta
//
