LOCUS       NM_024089               2029 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens protein O-glucosyltransferase 2 (POGLUT2), transcript
            variant 1, mRNA.
ACCESSION   NM_024089
VERSION     NM_024089.3
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 2029)
  AUTHORS   Williamson,D.B., Sohn,C.J., Ito,A. and Haltiwanger,R.S.
  TITLE     POGLUT2 and POGLUT3 O-glucosylate multiple EGF repeats in
            fibrillin-1, -2, and LTBP1 and promote secretion of fibrillin-1
  JOURNAL   J Biol Chem 297 (3), 101055 (2021)
   PUBMED   34411563
  REMARK    GeneRIF: POGLUT2 and POGLUT3 O-glucosylate multiple EGF repeats in
            fibrillin-1, -2, and LTBP1 and promote secretion of fibrillin-1.
REFERENCE   2  (bases 1 to 2029)
  AUTHORS   Takeuchi,H., Schneider,M., Williamson,D.B., Ito,A., Takeuchi,M.,
            Handford,P.A. and Haltiwanger,R.S.
  TITLE     Two novel protein O-glucosyltransferases that modify sites distinct
            from POGLUT1 and affect Notch trafficking and signaling
  JOURNAL   Proc Natl Acad Sci U S A 115 (36), E8395-E8402 (2018)
   PUBMED   30127001
REFERENCE   3  (bases 1 to 2029)
  AUTHORS   Fu,Y.Y., Zhao,J., Park,J.H., Choi,G.W., Park,K.Y., Lee,Y.H. and
            Chung,I.S.
  TITLE     Human colorectal cancer antigen GA733-2-Fc fused to endoplasmic
            reticulum retention motif KDEL enhances its immunotherapeutic
            effects
  JOURNAL   J Cancer Res Ther 14 (Supplement), S748-S757 (2018)
   PUBMED   30249898
  REMARK    GeneRIF: Our results suggest that GA733-2-Fc conjugated to
            ER-retention motif KDEL is a more efficient antigen to prevent
            tumor growth induced by colorectal carcinoma and minimize an
            allergic response.
REFERENCE   4  (bases 1 to 2029)
  AUTHORS   Ferraren,D.O., Liu,C., Badner,J.A., Corona,W., Rezvani,A.,
            Monje,V.D., Gershon,E.S., Bonner,T.I. and Detera-Wadleigh,S.D.
  TITLE     Linkage disequilibrium analysis in the LOC93081-KDELC1-BIVM region
            on 13q in bipolar disorder
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 133B (1), 12-17 (2005)
   PUBMED   15635705
REFERENCE   5  (bases 1 to 2029)
  AUTHORS   Dunham,A., Matthews,L.H., Burton,J., Ashurst,J.L., Howe,K.L.,
            Ashcroft,K.J., Beare,D.M., Burford,D.C., Hunt,S.E.,
            Griffiths-Jones,S., Jones,M.C., Keenan,S.J., Oliver,K., Scott,C.E.,
            Ainscough,R., Almeida,J.P., Ambrose,K.D., Andrews,D.T.,
            Ashwell,R.I., Babbage,A.K., Bagguley,C.L., Bailey,J., Bannerjee,R.,
            Barlow,K.F., Bates,K., Beasley,H., Bird,C.P., Bray-Allen,S.,
            Brown,A.J., Brown,J.Y., Burrill,W., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M.E., Clark,S.Y., Clarke,G., Clee,C.M.,
            Clegg,S.C., Cobley,V., Collins,J.E., Corby,N., Coville,G.J.,
            Deloukas,P., Dhami,P., Dunham,I., Dunn,M., Earthrowl,M.E.,
            Ellington,A.G., Faulkner,L., Frankish,A.G., Frankland,J.,
            French,L., Garner,P., Garnett,J., Gilbert,J.G., Gilson,C.J.,
            Ghori,J., Grafham,D.V., Gribble,S.M., Griffiths,C., Hall,R.E.,
            Hammond,S., Harley,J.L., Hart,E.A., Heath,P.D., Howden,P.J.,
            Huckle,E.J., Hunt,P.J., Hunt,A.R., Johnson,C., Johnson,D., Kay,M.,
            Kimberley,A.M., King,A., Laird,G.K., Langford,C.J., Lawlor,S.,
            Leongamornlert,D.A., Lloyd,D.M., Lloyd,C., Loveland,J.E.,
            Lovell,J., Martin,S., Mashreghi-Mohammadi,M., McLaren,S.J.,
            McMurray,A., Milne,S., Moore,M.J., Nickerson,T., Palmer,S.A.,
            Pearce,A.V., Peck,A.I., Pelan,S., Phillimore,B., Porter,K.M.,
            Rice,C.M., Searle,S., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
            Smith,M., Steward,C.A., Sycamore,N., Tester,J., Thomas,D.W.,
            Tracey,A., Tromans,A., Tubby,B., Wall,M., Wallis,J.M., West,A.P.,
            Whitehead,S.L., Willey,D.L., Wilming,L., Wray,P.W., Wright,M.W.,
            Young,L., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E., Beck,S.,
            Bentley,D.R., Rogers,J. and Ross,M.T.
  TITLE     The DNA sequence and analysis of human chromosome 13
  JOURNAL   Nature 428 (6982), 522-528 (2004)
   PUBMED   15057823
REFERENCE   6  (bases 1 to 2029)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   7  (bases 1 to 2029)
  AUTHORS   Kimata,Y., Ooboki,K., Nomura-Furuwatari,C., Hosoda,A., Tsuru,A. and
            Kohno,K.
  TITLE     Identification of a novel mammalian endoplasmic reticulum-resident
            KDEL protein using an EST database motif search
  JOURNAL   Gene 261 (2), 321-327 (2000)
   PUBMED   11167020
  REMARK    GeneRIF: This paper reports data on mouse Kdelc1
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK225103.1 and BC001297.1.
            
            On Nov 23, 2018 this sequence version replaced NM_024089.2.
            
            Summary: This gene encodes a protein product localized to the lumen
            of the endoplasmic reticulum. As a member of the endoplasmic
            reticulum protein family the encoded protein contains a
            Lys-Asp-Glu-Leu or KDEL motif located at the extreme C-terminus
            which prevents all endoplasmic reticulum resident proteins from
            being secreted. Proteins carrying this motif are bound by a
            receptor in the Golgi apparatus so that the receptor-ligand complex
            returns to the endoplasmic reticulum. A processed non-transcribed
            pseudogene located in an intron of a sodium transporter gene on
            chromosome 5 has been defined for this gene. This gene has multiple
            transcript variants which are predicted to encode distinct
            isoforms. [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC001297.1, AK222567.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376004.5/ ENSP00000365172.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2026              AK225103.1         2-2027
            2027-2029           BC001297.1         2058-2060
FEATURES             Location/Qualifiers
     source          1..2029
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q33.1"
     gene            1..2029
                     /gene="POGLUT2"
                     /gene_synonym="EP58; ERp58; KDEL1; KDELC1"
                     /note="protein O-glucosyltransferase 2"
                     /db_xref="GeneID:79070"
                     /db_xref="HGNC:HGNC:19350"
                     /db_xref="MIM:611613"
     exon            1..488
                     /gene="POGLUT2"
                     /gene_synonym="EP58; ERp58; KDEL1; KDELC1"
                     /inference="alignment:Splign:2.1.0"
     CDS             307..1815
                     /gene="POGLUT2"
                     /gene_synonym="EP58; ERp58; KDEL1; KDELC1"
                     /EC_number="2.4.2.26"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; ER protein 58; KDEL motif-containing protein 1;
                     KDEL motif containing 1; endoplasmic reticulum resident
                     protein 58; KDEL (Lys-Asp-Glu-Leu) containing 1; protein
                     O-xylosyltransferase POGLUT2"
                     /codon_start=1
                     /product="protein O-glucosyltransferase 2 isoform 1
                     precursor"
                     /protein_id="NP_076994.2"
                     /db_xref="CCDS:CCDS9504.1"
                     /db_xref="GeneID:79070"
                     /db_xref="HGNC:HGNC:19350"
                     /db_xref="MIM:611613"
                     /translation="MFGTLLLYCFFLATVPALAETGGERQLSPEKSEIWGPGLKADVV
                     LPARYFYIQAVDTSGNKFTSSPGEKVFQVKVSAPEEQFTRVGVQVLDRKDGSFIVRYR
                     MYASYKNLKVEIKFQGQHVAKSPYILKGPVYHENCDCPLQDSAAWLREMNCPETIAQI
                     QRDLAHFPAVDPEKIAVEIPKRFGQRQSLCHYTLKDNKVYIKTHGEHVGFRIFMDAIL
                     LSLTRKVKMPDVELFVNLGDWPLEKKKSNSNIHPIFSWCGSTDSKDIVMPTYDLTDSV
                     LETMGRVSLDMMSVQANTGPPWESKNSTAVWRGRDSRKERLELVKLSRKHPELIDAAF
                     TNFFFFKHDENLYGPIVKHISFFDFFKHKYQINIDGTVAAYRLPYLLVGDSVVLKQDS
                     IYYEHFYNELQPWKHYIPVKSNLSDLLEKLKWAKDHDEEAKKIAKAGQEFARNNLMGD
                     DIFCYYFKLFQEYANLQVSEPQIREGMKRVEPQTEDDLFPCTCHRKKTKDEL"
     exon            489..694
                     /gene="POGLUT2"
                     /gene_synonym="EP58; ERp58; KDEL1; KDELC1"
                     /inference="alignment:Splign:2.1.0"
     exon            695..900
                     /gene="POGLUT2"
                     /gene_synonym="EP58; ERp58; KDEL1; KDELC1"
                     /inference="alignment:Splign:2.1.0"
     exon            901..978
                     /gene="POGLUT2"
                     /gene_synonym="EP58; ERp58; KDEL1; KDELC1"
                     /inference="alignment:Splign:2.1.0"
     exon            979..1151
                     /gene="POGLUT2"
                     /gene_synonym="EP58; ERp58; KDEL1; KDELC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1152..1389
                     /gene="POGLUT2"
                     /gene_synonym="EP58; ERp58; KDEL1; KDELC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1390..1599
                     /gene="POGLUT2"
                     /gene_synonym="EP58; ERp58; KDEL1; KDELC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1600..1689
                     /gene="POGLUT2"
                     /gene_synonym="EP58; ERp58; KDEL1; KDELC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1690..1797
                     /gene="POGLUT2"
                     /gene_synonym="EP58; ERp58; KDEL1; KDELC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1798..2029
                     /gene="POGLUT2"
                     /gene_synonym="EP58; ERp58; KDEL1; KDELC1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2004..2009
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POGLUT2"
                     /gene_synonym="EP58; ERp58; KDEL1; KDELC1"
                     /note="hexamer: AATAAA"
     polyA_site      2029
                     /gene="POGLUT2"
                     /gene_synonym="EP58; ERp58; KDEL1; KDELC1"
                     /note="major polyA site"
ORIGIN      
        1 aaatgatgct ccagtggcag gagcaactca agttcatcat tgtcctgaga gagaggagca
       61 gcgcggttct cggccgggac agcagaacgc caggggaccc tcacctgggc gcgccggggc
      121 acgggctttg attgtcctgg ggtcgcggag acccgcgcgc ctgccctgca cgccgggcgg
      181 caacctttgc agtcgcgttg gctgctgcga tcggccggcg ggtccctgcc gaaggctcgg
      241 ctgcttctgt ccacctctta cacttcttca tttatcggtg gatcatttcg agagtccgtc
      301 ttgtaaatgt ttggcacttt gctactttat tgcttctttc tggcgacagt tccagcactc
      361 gccgagaccg gcggagaaag gcagctgagc ccggagaaga gcgaaatatg gggacccggg
      421 ctaaaagcag acgtcgtcct tcccgcccgc tatttctata ttcaggcagt ggatacatca
      481 gggaataaat tcacatcttc tccaggcgaa aaggtcttcc aggtgaaagt ctcagcacca
      541 gaggagcaat tcactagagt tggagtccag gttttagacc gaaaagatgg gtccttcata
      601 gtaagataca gaatgtatgc aagctacaaa aatctgaagg tggaaattaa attccaaggg
      661 caacatgtgg ccaaatcccc atatatttta aaagggccgg tttaccatga gaactgtgac
      721 tgtcctctgc aagatagtgc agcctggcta cgggagatga actgccctga aaccattgct
      781 cagattcaga gagatctggc acatttccct gctgtggatc cagaaaagat tgcagtagaa
      841 atcccaaaaa gatttggaca gaggcagagc ctatgtcact acaccttaaa ggataacaag
      901 gtttatatca agactcatgg tgaacatgta ggttttagaa ttttcatgga tgccatacta
      961 ctttctttga ctagaaaggt gaagatgcca gatgtggagc tctttgttaa tttgggagac
     1021 tggcctttgg aaaaaaagaa atccaattca aacatccatc cgatcttttc ctggtgtggc
     1081 tccacagatt ccaaggatat cgtgatgcct acgtacgatt tgactgattc tgttctggaa
     1141 accatgggcc gggtaagtct ggatatgatg tccgtgcaag ctaacacggg tcctccctgg
     1201 gaaagcaaaa attccactgc cgtctggaga gggcgagaca gccgcaaaga gagactcgag
     1261 ctggttaaac tcagtagaaa acacccagaa ctcatagacg ctgctttcac caactttttc
     1321 ttctttaaac acgatgaaaa cctgtatggt cccattgtga aacatatttc attttttgat
     1381 ttcttcaagc ataagtatca aataaatatc gatggcactg tagcagctta tcgcctgcca
     1441 tatttgctag ttggtgacag tgttgtgctg aagcaggatt ccatctacta tgaacatttt
     1501 tacaatgagc tgcagccctg gaaacactac attccagtta agagcaacct gagcgatctg
     1561 ctagaaaaac ttaaatgggc gaaagatcac gatgaagagg ccaaaaagat agcaaaagca
     1621 ggacaagaat ttgcaagaaa taatctcatg ggcgatgaca tattctgtta ttatttcaaa
     1681 cttttccagg aatatgccaa tttacaagtg agtgagcccc aaatccgaga gggcatgaaa
     1741 agggtagaac cacagactga ggacgacctc ttcccttgta cttgccatag gaaaaagacc
     1801 aaagatgaac tctgatatgc aaaataactt ctattagaat aatggtgctc tgaagactct
     1861 tcttaactaa aaagaagaat ttttttaagt attaattcca tggacaatat aaaatctgtg
     1921 tgattgtttg cagtatgaag acacatttct acttatgcag tattctcatg actgtacttt
     1981 aaagtacatt tttagaattt tataataaaa ccacctttat tttaaagga
//
