LOCUS       NM_001278689            4443 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens EGF domain specific O-linked N-acetylglucosamine
            transferase (EOGT), transcript variant 1, mRNA.
ACCESSION   NM_001278689
VERSION     NM_001278689.2
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 4443)
  AUTHORS   Shu,Y., He,L., Gao,M., Xiao,F., Yang,J., Wang,S., Wei,H., Zhang,F.
            and Wei,H.
  TITLE     EOGT Correlated With Immune Infiltration: A Candidate Prognostic
            Biomarker for Hepatocellular Carcinoma
  JOURNAL   Front Immunol 12, 780509 (2022)
   PUBMED   35069551
  REMARK    GeneRIF: EOGT Correlated With Immune Infiltration: A Candidate
            Prognostic Biomarker for Hepatocellular Carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4443)
  AUTHORS   Yang,C., Hu,J.F., Zhan,Q., Wang,Z.W., Li,G., Pan,J.J., Huang,L.,
            Liao,C.Y., Huang,Y., Tian,Y.F., Shen,B.Y., Chen,J.Z., Wang,Y.D. and
            Chen,S.
  TITLE     SHCBP1 interacting with EOGT enhances O-GlcNAcylation of NOTCH1 and
            promotes the development of pancreatic cancer
  JOURNAL   Genomics 113 (2), 827-842 (2021)
   PUBMED   33515675
  REMARK    GeneRIF: SHCBP1 interacting with EOGT enhances O-GlcNAcylation of
            NOTCH1 and promotes the development of pancreatic cancer.
REFERENCE   3  (bases 1 to 4443)
  AUTHORS   Barua,R., Mizuno,K., Tashima,Y., Ogawa,M., Takeuchi,H., Taguchi,A.
            and Okajima,T.
  TITLE     Bioinformatics and Functional Analyses Implicate Potential Roles
            for EOGT and L-fringe in Pancreatic Cancers
  JOURNAL   Molecules 26 (4), 882 (2021)
   PUBMED   33562410
  REMARK    GeneRIF: Bioinformatics and Functional Analyses Implicate Potential
            Roles for EOGT and L-fringe in Pancreatic Cancers.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4443)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 4443)
  AUTHORS   Muter,J., Alam,M.T., Vrljicak,P., Barros,F.S.V., Ruane,P.T.,
            Ewington,L.J., Aplin,J.D., Westwood,M. and Brosens,J.J.
  TITLE     The Glycosyltransferase EOGT Regulates Adropin Expression in
            Decidualizing Human Endometrium
  JOURNAL   Endocrinology 159 (2), 994-1004 (2018)
   PUBMED   29244071
  REMARK    GeneRIF: Analysis of midluteal endometrial biopsies revealed an
            inverse correlation between endometrial EOGT and ENHO expression
            and body mass index. obesity impairs the EOGT-adropin axis in
            decidual cells, which in turn points toward a mechanistic link
            between metabolic disorders and adverse pregnancy outcome.
REFERENCE   6  (bases 1 to 4443)
  AUTHORS   Suila,H., Hirvonen,T., Ritamo,I., Natunen,S., Tuimala,J.,
            Laitinen,S., Anderson,H., Nystedt,J., Rabina,J. and Valmu,L.
  TITLE     Extracellular o-linked N-acetylglucosamine is enriched in stem
            cells derived from human umbilical cord blood
  JOURNAL   Biores Open Access 3 (2), 39-44 (2014)
   PUBMED   24804163
REFERENCE   7  (bases 1 to 4443)
  AUTHORS   Cohen,I., Silberstein,E., Perez,Y., Landau,D., Elbedour,K.,
            Langer,Y., Kadir,R., Volodarsky,M., Sivan,S., Narkis,G. and
            Birk,O.S.
  TITLE     Autosomal recessive Adams-Oliver syndrome caused by homozygous
            mutation in EOGT, encoding an EGF domain-specific O-GlcNAc
            transferase
  JOURNAL   Eur J Hum Genet 22 (3), 374-378 (2014)
   PUBMED   23860037
  REMARK    GeneRIF: c.1074delA mutation segregates with Adams-Oliver syndrome
            in the Bedouin family.
REFERENCE   8  (bases 1 to 4443)
  AUTHORS   Muller,R., Jenny,A. and Stanley,P.
  TITLE     The EGF repeat-specific O-GlcNAc-transferase Eogt interacts with
            notch signaling and pyrimidine metabolism pathways in Drosophila
  JOURNAL   PLoS One 8 (5), e62835 (2013)
   PUBMED   23671640
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 4443)
  AUTHORS   Shaheen,R., Aglan,M., Keppler-Noreuil,K., Faqeih,E., Ansari,S.,
            Horton,K., Ashour,A., Zaki,M.S., Al-Zahrani,F.,
            Cueto-Gonzalez,A.M., Abdel-Salam,G., Temtamy,S. and Alkuraya,F.S.
  TITLE     Mutations in EOGT confirm the genetic heterogeneity of
            autosomal-recessive Adams-Oliver syndrome
  JOURNAL   Am J Hum Genet 92 (4), 598-604 (2013)
   PUBMED   23522784
  REMARK    GeneRIF: Mutations in EOGT confirm the genetic heterogeneity of
            autosomal-recessive Adams-Oliver syndrome.
REFERENCE   10 (bases 1 to 4443)
  AUTHORS   Lehman,A., Wuyts,W. and Patel,M.S.
  TITLE     Adams-Oliver Syndrome - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH,
            Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   27077170
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA856791.1, BX648818.1 and
            AJ868234.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_001278689.1.
            
            Summary: This gene encodes an enzyme that acts in the lumen of the
            endoplasmic reticulum to catalyze the transfer of
            N-acetylglucosamine to serine or threonine residues of
            extracellular-targeted proteins. This enzyme modifies proteins
            containing eukaryotic growth factor (EGF)-like domains, including
            the Notch receptor, thereby regulating developmental signalling.
            Mutations in this gene have been observed in individuals with
            Adams-Oliver syndrome 4. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Aug 2015].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (a).
            
            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 :: BX648818.1, SRR1803612.213001.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000383701.8/ ENSP00000373206.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-16                DA856791.1         278-293
            17-930              BX648818.1         2-915
            931-1322            AJ868234.1         465-856
            1323-2343           BX648818.1         1308-2328
            2344-4443           BX648818.1         2330-4429
FEATURES             Location/Qualifiers
     source          1..4443
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p14.1"
     gene            1..4443
                     /gene="EOGT"
                     /gene_synonym="AER61; AOS4; C3orf64; EOGT1"
                     /note="EGF domain specific O-linked N-acetylglucosamine
                     transferase"
                     /db_xref="GeneID:285203"
                     /db_xref="HGNC:HGNC:28526"
                     /db_xref="MIM:614789"
     exon            1..111
                     /gene="EOGT"
                     /gene_synonym="AER61; AOS4; C3orf64; EOGT1"
                     /inference="alignment:Splign:2.1.0"
     exon            112..396
                     /gene="EOGT"
                     /gene_synonym="AER61; AOS4; C3orf64; EOGT1"
                     /inference="alignment:Splign:2.1.0"
     exon            397..452
                     /gene="EOGT"
                     /gene_synonym="AER61; AOS4; C3orf64; EOGT1"
                     /inference="alignment:Splign:2.1.0"
     exon            453..676
                     /gene="EOGT"
                     /gene_synonym="AER61; AOS4; C3orf64; EOGT1"
                     /inference="alignment:Splign:2.1.0"
     CDS             467..2050
                     /gene="EOGT"
                     /gene_synonym="AER61; AOS4; C3orf64; EOGT1"
                     /EC_number="2.4.1.255"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; AER61 glycosyltransferase; extracellular
                     O-linked N-acetylglucosamine transferase; EGF-O-GlcNAc
                     transferase; EGF domain-specific O-linked
                     N-acetylglucosamine (GlcNAc) transferase"
                     /codon_start=1
                     /product="EGF domain-specific O-linked N-acetylglucosamine
                     transferase isoform a precursor"
                     /protein_id="NP_001265618.1"
                     /db_xref="CCDS:CCDS63684.1"
                     /db_xref="GeneID:285203"
                     /db_xref="HGNC:HGNC:28526"
                     /db_xref="MIM:614789"
                     /translation="MLMLFVFGVLLHEVSLSGQNEAPPNTHSIPGEPLYNYASIRLPE
                     EHIPFFLHNNRHIATVCRKDSLCPYKKHLEKLKYCWGYEKSCKPEFRFGYPVCSYVDM
                     GWTDTLESAEDIFWKQADFGYARERLEEMHVLCQPKETSDSSLVCSRYLQYCRATNLY
                     LDLRNIKRNHDRFKEDFFQSGEIGGHCKLDIRTLTSEGQRKSPLQSWFAELQSYTQLN
                     FRPIEDAKCDIVIEKPTYFMKLDAGVNMYHHFCDFINLYITQHVNNSFSTDVYIVMWD
                     TSSYGYGDLFSDTWNAFTDYDVIHLKTYDSKRVCFKEAVFSLLPRMRYGLFYNTPLIS
                     GCQNTGLFRAFAQHVLHRLNITQEGPKDGKIRVTILARSTEYRKILNQNELVNALKTV
                     STFEVQIVDYKYRELGFLDQLRITHNTDIFIGMHGAGLTHLLFLPDWAAVFELYNCED
                     ERCYLDLARLRGVHYITWRRQNKVFPQDKGHHPTLGEHPKFTNYSFDVEEFMYLVLQA
                     ADHVLQHPKWPFKKKHDEL"
     exon            677..777
                     /gene="EOGT"
                     /gene_synonym="AER61; AOS4; C3orf64; EOGT1"
                     /inference="alignment:Splign:2.1.0"
     exon            778..886
                     /gene="EOGT"
                     /gene_synonym="AER61; AOS4; C3orf64; EOGT1"
                     /inference="alignment:Splign:2.1.0"
     exon            887..981
                     /gene="EOGT"
                     /gene_synonym="AER61; AOS4; C3orf64; EOGT1"
                     /inference="alignment:Splign:2.1.0"
     exon            982..1086
                     /gene="EOGT"
                     /gene_synonym="AER61; AOS4; C3orf64; EOGT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1087..1193
                     /gene="EOGT"
                     /gene_synonym="AER61; AOS4; C3orf64; EOGT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1194..1297
                     /gene="EOGT"
                     /gene_synonym="AER61; AOS4; C3orf64; EOGT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1298..1390
                     /gene="EOGT"
                     /gene_synonym="AER61; AOS4; C3orf64; EOGT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1391..1462
                     /gene="EOGT"
                     /gene_synonym="AER61; AOS4; C3orf64; EOGT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1463..1549
                     /gene="EOGT"
                     /gene_synonym="AER61; AOS4; C3orf64; EOGT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1550..1618
                     /gene="EOGT"
                     /gene_synonym="AER61; AOS4; C3orf64; EOGT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1619..1680
                     /gene="EOGT"
                     /gene_synonym="AER61; AOS4; C3orf64; EOGT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1681..1800
                     /gene="EOGT"
                     /gene_synonym="AER61; AOS4; C3orf64; EOGT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1801..1903
                     /gene="EOGT"
                     /gene_synonym="AER61; AOS4; C3orf64; EOGT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1904..4443
                     /gene="EOGT"
                     /gene_synonym="AER61; AOS4; C3orf64; EOGT1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4417..4422
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EOGT"
                     /gene_synonym="AER61; AOS4; C3orf64; EOGT1"
                     /note="hexamer: AATAAA"
     polyA_site      4443
                     /gene="EOGT"
                     /gene_synonym="AER61; AOS4; C3orf64; EOGT1"
                     /note="major polyA site"
ORIGIN      
        1 gcccgaggtt tccggtgagc ggcagtagcc ggttatgacg actccctcct ctggaacagc
       61 cgccgtctcc tccgcctcct cctcggtagt tcacggctgc cccggctcca ggcctgtgga
      121 aatcgaatca agggtttctg gagtggagtg attccagctg ctttgagctg aaggaaaagt
      181 agcctggcca gtaaagcgtc cgtgtgctgg aggagtgcag ccacccatcc cggcgggcct
      241 tgcaggacga ccgacaccag gaaggctttg tgccaggccc agcagccacc cccagccgcc
      301 ttatgcaagt gggtacatgc cctcgccaga cgccagcttt ctgatctgcg tctttagatt
      361 ttttccatcg cctaagcgtt acttctccac tgatcggttt tagagacctg aaacatcaca
      421 gaagcttctg agtggttctg aagattcaag aggtttgcag gttgctatgt taatgttgtt
      481 tgtctttgga gtcttacttc atgaagtctc actgagtggt cagaatgaag ctcctcctaa
      541 tactcacagc attccaggcg aacctctgta taactatgcc agcatccgct tgccagagga
      601 gcacattccc ttctttttgc acaacaatag gcatattgcc actgtctgta ggaaagactc
      661 tctttgtcca tataagaaac acctagagaa gctaaagtac tgctggggtt atgagaaatc
      721 ctgcaaacca gagttcaggt ttggttaccc agtttgcagc tatgtcgaca tgggatggac
      781 ggacactctt gagtcagctg aggacatatt ttggaaacaa gctgactttg gatatgccag
      841 agagaggctg gaggagatgc atgtgctctg tcagcctaag gaaacgagtg actcaagtct
      901 ggtgtgttcc cgttatcttc agtactgcag agcaaccaat ctctatcttg atttaagaaa
      961 catcaagaga aatcatgaca gatttaagga ggactttttc cagagtggtg aaattggagg
     1021 gcactgtaaa cttgacatcc gtacattgac gtctgaaggt cagcgcaaaa gccctctgca
     1081 gtcatggttt gctgagctac aaagctatac tcagctcaac ttcagaccta tagaagatgc
     1141 taaatgtgac attgtcattg aaaaaccaac atatttcatg aaattagatg caggtgttaa
     1201 catgtatcac cacttctgtg atttcatcaa tctttatatt actcagcacg ttaataactc
     1261 attcagtact gacgtgtaca tcgtgatgtg ggacaccagt tcttacggat atggtgacct
     1321 attctccgac acatggaatg catttactga ttatgacgtt atacatttga aaacttatga
     1381 ttccaaaagg gtatgtttta aagaagctgt tttttcatta ctcccccgca tgaggtatgg
     1441 gctgttctat aatactcctc tgatatctgg ctgtcaaaat actggactat tcagggcatt
     1501 tgcccagcat gtactacaca gactaaacat cacacaagaa ggacctaagg atggaaaaat
     1561 tcgagtcacc attcttgcac ggagcacaga ataccggaaa atccttaacc aaaatgagct
     1621 tgtaaatgca ctgaaaacag tatctacatt tgaagtccag attgttgatt acaagtatag
     1681 agaacttggg tttttagatc aactaaggat cacacacaac acggacatat ttattggaat
     1741 gcatggagct ggtctgaccc atttactttt ccttccagac tgggctgctg tatttgaact
     1801 gtacaactgt gaagatgaac gctgttactt agacttggcc aggctgagag gcgttcacta
     1861 catcacttgg cgacggcaga acaaagtctt tcctcaggat aagggccacc atccaaccct
     1921 gggggagcac ccgaagttca ccaactactc tttcgatgta gaagaattta tgtatcttgt
     1981 ccttcaggct gcagaccacg tattgcaaca cccaaagtgg ccatttaaga agaaacatga
     2041 tgagctataa atatgctgag tctgtttgca aaaagagagt gtttaaacac tccaacaccc
     2101 agacttagaa ttaaatcagt aaagcaatct gttatttcct atccccgaat taccttttct
     2161 atgccaaaac ataccttcag gatattgtta tgtgttgtat agatgttaag tgtttcatgt
     2221 ggtttttgtg tcattgctat ttatcaatag caataatttt gcactgaaaa ctttttatag
     2281 ttcaaaaatt aagcatggac tccccagtat actttaactt tctttctttc tttttttttt
     2341 tttggagaca gagtctcact gtcacccagg ctggagtgca gtggcatgat ctcagtttat
     2401 gcaacttctg cctccccagg ttcaagcgat tcttttgcct cagccacctg actagctggg
     2461 attgcagcct gcaccaccac acctggctaa atttttgttg ttgtcgttga gatacagttt
     2521 cactctgtca cccaggctgg agtgcagtgg catgatctca gctcactgca acctctgcct
     2581 tctggattca agtgattctt gtgccttagc ctcccaagta gctgggatta caggcgtgca
     2641 ccaccacgcc cagttgattt ttgtattttt gatagagacg gagtttcacc atgttggcca
     2701 ggctggtctc gaactctggg ttcaagaaat cctcccacct tgcctcccaa agtgctggga
     2761 ttacaggtgt gagccaccac gcatggccct gaactttctc tttttaggaa taccaaagtt
     2821 ttcaactttt tcagctttag aatttgtaaa tatttttgta gaatatcata tgactgtaat
     2881 tccagagtgt tccaacttgt ttatgatata tttgggtaaa tttacaactg ttcttttatt
     2941 tgccataatc tggttataac actgtttgtg gtaggaaagg aaaacatgca aaacatacac
     3001 acacacacac acacacacac acacacgcag agttgtgatt ctcagtacca agctatagga
     3061 ccatgttata gatcagcgtt tagtcacctc caggttatat gcatcgagaa cctgaataaa
     3121 tcatgccact atattaattt atattacatg tttcatattt aaatcatgtt ttcctaaaat
     3181 gtagcaacta catgtgataa aagcaaatta gaacattctg taggactgtc ttgcatacct
     3241 tctgtctggt ttccactgat tccttcttag ccatggagag catttgtgat taattaattt
     3301 atatatgaaa taatggtttc cattttatgc gagtatttgt aactgcatat accagtgcgt
     3361 gtgcgtctac ctctgtcagc atgaaagtat tccagtcttt aatttcaaaa acttcaaatt
     3421 agcctcatga agagaatttt tccctgtgaa aagtaagacc aagaaaaaac aaactaaaga
     3481 catgtgactt attcaatgaa agtgaaaaag aagctctaaa acagtgtcat tgattaaaaa
     3541 gaatatctgg aatgtagccc cactctttga gtgggattca tttcttactg cttatgaact
     3601 ttcaatttag tagtcagaaa ccatggattt attttactgc acaatgtgaa gtttacattt
     3661 tattaacact tgagtagtct gatttagaga ctagttactt ctatttttta aaataatgga
     3721 gtaacaaatt acagaatagc taaataattt tttaaaaata ttttacagtt gtaaaaaata
     3781 tccatcagaa aaatgacaca caaaacaaaa tatctggacc tttacagaag acgtttgctg
     3841 acccccactt taaaggattg gaacagtctt ctagaattga ggaatattta ttaaaatacc
     3901 tgtaaagaaa atagtgaatc actgtagcaa tggctttgat tcagacctta aaatcacata
     3961 agaagaatta caacatgtta tggattttta agtggcaggt attgtaactg ttttttgtgt
     4021 gcaaaatact gagtaaccac tgggaaaata tttcagatga aagggatgac aaaagcatgt
     4081 tgcgctttgc atcagcaagg cattgacttc tgaaaaaatg atctgaaaaa agtttcaccg
     4141 tttgtcttct tacctcattt taagaagcat gtgaaaatgg gatactatag actactgaga
     4201 atttcagaaa ttgagaacaa tttcataata aaacggctat atttgaagag agaatacatt
     4261 ttatataaac aggaaaatac atttgacact ttatggaatt ttatgagact ttttgtggga
     4321 acagaaggtc ttcaaattgt aaaatgtaaa gattgctctt tttattaagt ctttaacagg
     4381 gatgtatttc attgtatgtt ttgggtatgg ctttggaata aatcatttta tattttattt
     4441 gaa
//
