LOCUS       NM_005216               1941 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens dolichyl-diphosphooligosaccharide--protein
            glycosyltransferase non-catalytic subunit (DDOST), mRNA.
ACCESSION   NM_005216
VERSION     NM_005216.5
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 1941)
  AUTHORS   Lampson,B.L., Ramiotarez,A.S., Baro,M., He,L., Hegde,M., Koduri,V.,
            Pfaff,J.L., Hanna,R.E., Kowal,J., Shirole,N.H., He,Y., Doench,J.G.,
            Contessa,J.N., Locher,K.P. and Kaelin,W.G. Jr.
  TITLE     Positive selection CRISPR screens reveal a druggable pocket in an
            oligosaccharyltransferase required for inflammatory signaling to
            NF-kappaB
  JOURNAL   Cell 187 (9), 2209-2223 (2024)
   PUBMED   38670073
REFERENCE   2  (bases 1 to 1941)
  AUTHORS   Gutowska,K., Kozniewski,K., Wasowski,M., Jonas,M.I.,
            Bartoszewicz,Z., Lisik,W., Jonas,M., Binda,A., Jaworski,P.,
            Tarnowski,W., Noszczyk,B., Puzianowska-Kuznicka,M., Czajkowski,K.
            and Kurylowicz,A.
  TITLE     AGER-1 Long Non-Coding RNA Levels Correlate with the Expression of
            the Advanced Glycosylation End-Product Receptor, a Regulator of the
            Inflammatory Response in Visceral Adipose Tissue of Women with
            Obesity and Type 2 Diabetes Mellitus
  JOURNAL   Int J Mol Sci 24 (24), 17447 (2023)
   PUBMED   38139276
  REMARK    GeneRIF: AGER-1 Long Non-Coding RNA Levels Correlate with the
            Expression of the Advanced Glycosylation End-Product Receptor, a
            Regulator of the Inflammatory Response in Visceral Adipose Tissue
            of Women with Obesity and Type 2 Diabetes Mellitus.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1941)
  AUTHORS   Kas,S.M., Mundra,P.A., Smith,D.L. and Marais,R.
  TITLE     Functional classification of DDOST variants of uncertain clinical
            significance in congenital disorders of glycosylation
  JOURNAL   Sci Rep 13 (1), 17648 (2023)
   PUBMED   37848450
  REMARK    GeneRIF: Functional classification of DDOST variants of uncertain
            clinical significance in congenital disorders of glycosylation.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1941)
  AUTHORS   Gemmer,M., Chaillet,M.L., van Loenhout,J., Cuevas Arenas,R.,
            Vismpas,D., Grollers-Mulderij,M., Koh,F.A., Albanese,P.,
            Scheltema,R.A., Howes,S.C., Kotecha,A., Fedry,J. and Forster,F.
  TITLE     Visualization of translation and protein biogenesis at the ER
            membrane
  JOURNAL   Nature 614 (7946), 160-167 (2023)
   PUBMED   36697828
REFERENCE   5  (bases 1 to 1941)
  AUTHORS   Lu,C., He,J.C., Cai,W., Liu,H., Zhu,L. and Vlassara,H.
  TITLE     Advanced glycation endproduct (AGE) receptor 1 is a negative
            regulator of the inflammatory response to AGE in mesangial cells
  JOURNAL   Proc Natl Acad Sci U S A 101 (32), 11767-11772 (2004)
   PUBMED   15289604
REFERENCE   6  (bases 1 to 1941)
  AUTHORS   Stitt,A.W., He,C. and Vlassara,H.
  TITLE     Characterization of the advanced glycation end-product receptor
            complex in human vascular endothelial cells
  JOURNAL   Biochem Biophys Res Commun 256 (3), 549-556 (1999)
   PUBMED   10080935
REFERENCE   7  (bases 1 to 1941)
  AUTHORS   Kumar,V., Heinemann,F.S. and Ozols,J.
  TITLE     Interleukin-2 induces N-glycosylation in T-cells: characterization
            of human lymphocyte oligosaccharyltransferase
  JOURNAL   Biochem Biophys Res Commun 247 (2), 524-529 (1998)
   PUBMED   9642163
REFERENCE   8  (bases 1 to 1941)
  AUTHORS   Yamagata,T., Tsuru,T., Momoi,M.Y., Suwa,K., Nozaki,Y., Mukasa,T.,
            Ohashi,H., Fukushima,Y. and Momoi,T.
  TITLE     Genome organization of human 48-kDa oligosaccharyltransferase
            (DDOST)
  JOURNAL   Genomics 45 (3), 535-540 (1997)
   PUBMED   9367678
REFERENCE   9  (bases 1 to 1941)
  AUTHORS   Kumar,V., Korza,G., Heinemann,F.S. and Ozols,J.
  TITLE     Human oligosaccharyltransferase: isolation, characterization, and
            the complete amino acid sequence of 50-kDa subunit
  JOURNAL   Arch Biochem Biophys 320 (2), 217-223 (1995)
   PUBMED   7625827
REFERENCE   10 (bases 1 to 1941)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC002594.2, AB062391.1 and
            AL391357.20.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 27, 2019 this sequence version replaced NM_005216.4.
            
            Summary: This gene encodes a component of the
            oligosaccharyltransferase complex which catalyzes the transfer of
            high-mannose oligosaccharides to asparagine residues on nascent
            polypeptides in the lumen of the rough endoplasmic reticulum. The
            protein complex co-purifies with ribosomes. The product of this
            gene is also implicated in the processing of advanced glycation
            endproducts (AGEs), which form from non-enzymatic reactions between
            sugars and proteins or lipids and are associated with aging and
            hyperglycemia. [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 :: BC002594.2, AB062391.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148093, SAMEA2158569
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000602624.7/ ENSP00000473655.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-333               BC002594.2         83-415
            334-1378            AB062391.1         342-1386
            1379-1941           AL391357.20        173584-174146       c
FEATURES             Location/Qualifiers
     source          1..1941
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.12"
     gene            1..1941
                     /gene="DDOST"
                     /gene_synonym="AGER1; CDG1R; GATD6; OKSWcl45; OST; OST48;
                     WBP1"
                     /note="dolichyl-diphosphooligosaccharide--protein
                     glycosyltransferase non-catalytic subunit"
                     /db_xref="GeneID:1650"
                     /db_xref="HGNC:HGNC:2728"
                     /db_xref="MIM:602202"
     exon            1..173
                     /gene="DDOST"
                     /gene_synonym="AGER1; CDG1R; GATD6; OKSWcl45; OST; OST48;
                     WBP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             20..1339
                     /gene="DDOST"
                     /gene_synonym="AGER1; CDG1R; GATD6; OKSWcl45; OST; OST48;
                     WBP1"
                     /EC_number="2.4.99.18"
                     /note="dolichyl-diphosphooligosaccharide-protein
                     glycotransferase; oligosaccharyltransferase 48 kDa
                     subunit; oligosaccharyltransferase subunit 48; advanced
                     glycation endproduct receptor 1; oligosaccharyl
                     transferase 48 kDa subunit;
                     dolichyl-diphosphooligosaccharide--protein
                     glycosyltransferase subunit (non-catalytic); advanced
                     glycation end-product receptor 1"
                     /codon_start=1
                     /product="dolichyl-diphosphooligosaccharide--protein
                     glycosyltransferase 48 kDa subunit precursor"
                     /protein_id="NP_005207.3"
                     /db_xref="CCDS:CCDS212.2"
                     /db_xref="GeneID:1650"
                     /db_xref="HGNC:HGNC:2728"
                     /db_xref="MIM:602202"
                     /translation="MEPSTAARAWALFWLLLPLLGAVCASGPRTLVLLDNLNVRETHS
                     LFFRSLKDRGFELTFKTADDPSLSLIKYGEFLYDNLIIFSPSVEDFGGNINVETISAF
                     IDGGGSVLVAASSDIGDPLRELGSECGIEFDEEKTAVIDHHNYDISDLGQHTLIVADT
                     ENLLKAPTIVGKSSLNPILFRGVGMVADPDNPLVLDILTGSSTSYSFFPDKPITQYPH
                     AVGKNTLLIAGLQARNNARVIFSGSLDFFSDSFFNSAVQKAAPGSQRYSQTGNYELAV
                     ALSRWVFKEEGVLRVGPVSHHRVGETAPPNAYTVTDLVEYSIVIQQLSNGKWVPFDGD
                     DIQLEFVRIDPFVRTFLKKKGGKYSVQFKLPDVYGVFQFKVDYNRLGYTHLYSSTQVS
                     VRPLQHTQYERFIPSAYPYYASAFSMMLGLFIFSIVFLHMKEKEKSD"
     exon            174..284
                     /gene="DDOST"
                     /gene_synonym="AGER1; CDG1R; GATD6; OKSWcl45; OST; OST48;
                     WBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            285..371
                     /gene="DDOST"
                     /gene_synonym="AGER1; CDG1R; GATD6; OKSWcl45; OST; OST48;
                     WBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            372..475
                     /gene="DDOST"
                     /gene_synonym="AGER1; CDG1R; GATD6; OKSWcl45; OST; OST48;
                     WBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            476..570
                     /gene="DDOST"
                     /gene_synonym="AGER1; CDG1R; GATD6; OKSWcl45; OST; OST48;
                     WBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            571..664
                     /gene="DDOST"
                     /gene_synonym="AGER1; CDG1R; GATD6; OKSWcl45; OST; OST48;
                     WBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            665..813
                     /gene="DDOST"
                     /gene_synonym="AGER1; CDG1R; GATD6; OKSWcl45; OST; OST48;
                     WBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            814..961
                     /gene="DDOST"
                     /gene_synonym="AGER1; CDG1R; GATD6; OKSWcl45; OST; OST48;
                     WBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            962..1082
                     /gene="DDOST"
                     /gene_synonym="AGER1; CDG1R; GATD6; OKSWcl45; OST; OST48;
                     WBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1083..1189
                     /gene="DDOST"
                     /gene_synonym="AGER1; CDG1R; GATD6; OKSWcl45; OST; OST48;
                     WBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1190..1941
                     /gene="DDOST"
                     /gene_synonym="AGER1; CDG1R; GATD6; OKSWcl45; OST; OST48;
                     WBP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1507..1512
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DDOST"
                     /gene_synonym="AGER1; CDG1R; GATD6; OKSWcl45; OST; OST48;
                     WBP1"
                     /note="hexamer: TATAAA"
     polyA_site      1532
                     /gene="DDOST"
                     /gene_synonym="AGER1; CDG1R; GATD6; OKSWcl45; OST; OST48;
                     WBP1"
                     /note="major polyA site"
     regulatory      1887..1892
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DDOST"
                     /gene_synonym="AGER1; CDG1R; GATD6; OKSWcl45; OST; OST48;
                     WBP1"
                     /note="hexamer: AATAAA"
     polyA_site      1904
                     /gene="DDOST"
                     /gene_synonym="AGER1; CDG1R; GATD6; OKSWcl45; OST; OST48;
                     WBP1"
                     /note="major polyA site"
     regulatory      1917..1922
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DDOST"
                     /gene_synonym="AGER1; CDG1R; GATD6; OKSWcl45; OST; OST48;
                     WBP1"
                     /note="hexamer: AATAAA"
     polyA_site      1941
                     /gene="DDOST"
                     /gene_synonym="AGER1; CDG1R; GATD6; OKSWcl45; OST; OST48;
                     WBP1"
                     /note="major polyA site"
ORIGIN      
        1 cttcggcagg aggaggaaga tggagcccag caccgcggcc cgggcttggg ccctcttttg
       61 gttgctgctg cccttgcttg gcgcggtttg cgccagcgga ccccgcacct tagtgctgct
      121 ggacaacctc aacgtgcggg agactcattc gcttttcttc cggagcctga aggaccgggg
      181 ctttgagctc acattcaaga ccgctgatga ccccagcctg tctctcataa agtatgggga
      241 attcctctat gacaatctca tcattttctc cccttcggta gaagattttg gaggcaacat
      301 caacgtggag accatcagtg cctttattga cggcggaggc agtgtgctgg tagctgccag
      361 ctccgacatt ggtgaccctc ttcgagagct gggcagtgag tgcgggattg agtttgacga
      421 ggagaaaacg gctgtcattg accatcacaa ctatgacatc tcagaccttg gccagcatac
      481 gctcatcgtg gctgacactg agaacctgct gaaggcccca accatcgttg ggaaatcatc
      541 tctaaatccc atcctctttc gaggtgttgg gatggtggcc gatcctgata accctttggt
      601 gctggacatc ctgacgggct cttccacctc ttactccttc ttcccggaca agcctatcac
      661 ccagtatcca catgcggtgg ggaagaacac cctcctcatt gctgggctcc aggccaggaa
      721 caatgcccgc gtcatcttca gcggctccct cgacttcttc agcgactcct tcttcaactc
      781 agcagtgcag aaggcggcgc ccggctccca gaggtattcc cagacaggca actatgaact
      841 agctgtggcc ctctcccgct gggtgttcaa ggaggagggt gtcctccgtg tggggcctgt
      901 gtcccatcat cgggtgggcg agacagcccc acccaatgcc tacactgtca ctgacctagt
      961 ggagtatagc atcgtgatcc agcagctctc aaatggcaaa tgggtcccct ttgatggcga
     1021 tgacattcag ctggagtttg tccgcattga tccttttgtg aggaccttcc tgaagaagaa
     1081 aggtggcaaa tacagtgttc agttcaagtt gcccgacgtg tatggtgtat tccagtttaa
     1141 agtggattac aaccggctag gctacacaca cctgtactct tccactcagg tatccgtgcg
     1201 gccactccag cacacgcagt atgagcgctt catcccctcg gcctacccct actacgccag
     1261 cgccttctcc atgatgctgg ggctcttcat cttcagcatc gtcttcttgc acatgaagga
     1321 gaaggagaag tccgactgag gggctagagc cctctccgca cagcgtggag acggggcaag
     1381 gaggggggtt attaggattg gtggttttgt tttgctttgt ttaaagccgt gggaaaatgg
     1441 cacaacttta cctctgtggg agatgcaaca ctgagagcca aggggtggga gttgggataa
     1501 tttttatata aaagaagttt ttccactttg aattgctaaa agtggcattt ttcctatgtg
     1561 cagtcactcc tctcatttct aaaataggga cgtggccagg cacggtggct catgcctgta
     1621 atcccagcac tttgggaggc cgaggcaggc ggctcacgag gtcaggagat cgagactatc
     1681 ctggctaaca cggtaaaacc ctgtctctac taaaagtaca aaaaattagc tgggcgtggt
     1741 ggtgggcacc tgtagtccca gctactcggg aggctgaggc aggagaaagg catgaatcca
     1801 agaggcagag cttgcagtga gctgagatca cgccattgca ctccagcctg ggcaacagtg
     1861 ttaagactct gtctcaaata taaataaata aataaataaa taaataaata aataaaaata
     1921 aagcgagatg ttgccctcaa a
//
