LOCUS       NM_001490               5566 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens glucosaminyl (N-acetyl) transferase 1 (GCNT1),
            transcript variant 2, mRNA.
ACCESSION   NM_001490
VERSION     NM_001490.5
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 5566)
  AUTHORS   Hodgson,K., Orozco-Moreno,M., Scott,E., Garnham,R., Livermore,K.,
            Thomas,H., Zhou,Y., He,J., Bermudez,A., Garcia Marques,F.J.,
            Bastian,K., Hysenaj,G., Archer Goode,E., Heer,R., Pitteri,S.,
            Wang,N., Elliott,D.J. and Munkley,J.
  TITLE     The role of GCNT1 mediated O-glycosylation in aggressive prostate
            cancer
  JOURNAL   Sci Rep 13 (1), 17031 (2023)
   PUBMED   37813880
  REMARK    GeneRIF: The role of GCNT1 mediated O-glycosylation in aggressive
            prostate cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5566)
  AUTHORS   Sato,T., Yoneyama,T., Tobisawa,Y., Hatakeyama,S., Yamamoto,H.,
            Kojima,Y., Mikami,J., Mori,K., Hashimoto,Y., Koie,T. and Ohyama,C.
  TITLE     Core 2 beta-1, 6-N-acetylglucosaminyltransferase-1 expression in
            prostate biopsy specimen is an indicator of prostate cancer
            aggressiveness
  JOURNAL   Biochem Biophys Res Commun 470 (1), 150-156 (2016)
   PUBMED   26768364
  REMARK    GeneRIF: GCNT1 expression in prostate biopsy specimen is a
            significant and independent predictor of recurrence after radical
            prostatectomy, which can be used in pre-treatment decision making
            for the patient.
REFERENCE   3  (bases 1 to 5566)
  AUTHORS   Kojima,Y., Yoneyama,T., Hatakeyama,S., Mikami,J., Sato,T., Mori,K.,
            Hashimoto,Y., Koie,T., Ohyama,C., Fukuda,M. and Tobisawa,Y.
  TITLE     Detection of Core2 beta-1,6-N-Acetylglucosaminyltransferase in
            Post-Digital Rectal Examination Urine Is a Reliable Indicator for
            Extracapsular Extension of Prostate Cancer
  JOURNAL   PLoS One 10 (9), e0138520 (2015)
   PUBMED   26390303
  REMARK    GeneRIF: GCNT1 expression in prostate cancer positively correlates
            with cancer progression and prostate-specific antigen recurrence.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5566)
  AUTHORS   Petrosyan,A., Holzapfel,M.S., Muirhead,D.E. and Cheng,P.W.
  TITLE     Restoration of compact Golgi morphology in advanced prostate cancer
            enhances susceptibility to galectin-1-induced apoptosis by
            modifying mucin O-glycan synthesis
  JOURNAL   Mol Cancer Res 12 (12), 1704-1716 (2014)
   PUBMED   25086069
  REMARK    GeneRIF: Results show that ST3Gal1 uses GM130-GRASP65 and giantin,
            whereas C2GnT-L uses only giantin for Golgi targeting and defective
            giantin dimerization in PC-3 and DU145 prostate cancer cells causes
            fragmentation of the Golgi and prevents its targeting.
REFERENCE   5  (bases 1 to 5566)
  AUTHORS   Chen,Z., Gulzar,Z.G., St Hill,C.A., Walcheck,B. and Brooks,J.D.
  TITLE     Increased expression of GCNT1 is associated with altered
            O-glycosylation of PSA, PAP, and MUC1 in human prostate cancers
  JOURNAL   Prostate 74 (10), 1059-1067 (2014)
   PUBMED   24854630
  REMARK    GeneRIF: GCNT1 is over-expressed in prostate cancer and is
            associated with higher levels of core 2 O-sLe(x) in PSA, PAP and
            MUC1 proteins.
REFERENCE   6  (bases 1 to 5566)
  AUTHORS   Falkenberg,V.R., Alvarez,K., Roman,C. and Fregien,N.
  TITLE     Multiple transcription initiation and alternative splicing in the
            5' untranslated region of the core 2 beta1-6
            N-acetylglucosaminyltransferase I gene
  JOURNAL   Glycobiology 13 (6), 411-418 (2003)
   PUBMED   12626388
  REMARK    GeneRIF: presence of multiple tissue-specific promoters for the
            C2GnT I gene
REFERENCE   7  (bases 1 to 5566)
  AUTHORS   Skrincosky,D., Kain,R., El-Battari,A., Exner,M., Kerjaschki,D. and
            Fukuda,M.
  TITLE     Altered Golgi localization of core 2
            beta-1,6-N-acetylglucosaminyltransferase leads to decreased
            synthesis of branched O-glycans
  JOURNAL   J Biol Chem 272 (36), 22695-22702 (1997)
   PUBMED   9278427
REFERENCE   8  (bases 1 to 5566)
  AUTHORS   Bierhuizen,M.F., Maemura,K., Kudo,S. and Fukuda,M.
  TITLE     Genomic organization of core 2 and I branching
            beta-1,6-N-acetylglucosaminyltransferases. Implication for
            evolution of the beta-1,6-N-acetylglucosaminyltransferase gene
            family
  JOURNAL   Glycobiology 5 (4), 417-425 (1995)
   PUBMED   7579796
REFERENCE   9  (bases 1 to 5566)
  AUTHORS   Bierhuizen,M.F., Mattei,M.G. and Fukuda,M.
  TITLE     Expression of the developmental I antigen by a cloned human cDNA
            encoding a member of a beta-1,6-N-acetylglucosaminyltransferase
            gene family
  JOURNAL   Genes Dev 7 (3), 468-478 (1993)
   PUBMED   8449405
REFERENCE   10 (bases 1 to 5566)
  AUTHORS   Bierhuizen,M.F. and Fukuda,M.
  TITLE     Expression cloning of a cDNA encoding UDP-GlcNAc:Gal beta
            1-3-GalNAc-R (GlcNAc to GalNAc) beta 1-6GlcNAc transferase by gene
            transfer into CHO cells expressing polyoma large tumor antigen
  JOURNAL   Proc Natl Acad Sci U S A 89 (19), 9326-9330 (1992)
   PUBMED   1329093
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP359964.1, BC109101.1,
            AL832647.2, AL161626.20 and AI445628.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001490.4.
            
            Summary: This gene is a member of the
            beta-1,6-N-acetylglucosaminyltransferase gene family. It is
            essential to the formation of Gal beta 1-3(GlcNAc beta 1-6)GalNAc
            structures and the core 2 O-glycan branch. The gene coding this
            enzyme was originally mapped to 9q21, but was later localized to
            9q13. Multiple alternatively spliced variants, encoding the same
            protein, have been identified. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1, and uses the P2 promoter.
            
            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 :: AL832647.2, SRR1803613.86360.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376730.5/ ENSP00000365920.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-402               BP359964.1         31-432
            403-3054            BC109101.1         1-2652
            3055-4318           AL832647.2         3005-4268
            4319-4319           AL161626.20        32891-32891
            4320-4543           AL832647.2         4270-4493
            4544-4544           AL161626.20        33116-33116
            4545-5139           AL832647.2         4494-5088
            5140-5468           AI445628.1         5-333               c
            5469-5566           AL832647.2         5418-5515
FEATURES             Location/Qualifiers
     source          1..5566
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.13"
     gene            1..5566
                     /gene="GCNT1"
                     /gene_synonym="C2GlcNAcT; C2GNT; C2GNT-L; C2GNT1; G6NT;
                     NACGT2; NAGCT2"
                     /note="glucosaminyl (N-acetyl) transferase 1"
                     /db_xref="GeneID:2650"
                     /db_xref="HGNC:HGNC:4203"
                     /db_xref="MIM:600391"
     exon            1..124
                     /gene="GCNT1"
                     /gene_synonym="C2GlcNAcT; C2GNT; C2GNT-L; C2GNT1; G6NT;
                     NACGT2; NAGCT2"
                     /inference="alignment:Splign:2.1.0"
     exon            125..242
                     /gene="GCNT1"
                     /gene_synonym="C2GlcNAcT; C2GNT; C2GNT-L; C2GNT1; G6NT;
                     NACGT2; NAGCT2"
                     /inference="alignment:Splign:2.1.0"
     exon            243..388
                     /gene="GCNT1"
                     /gene_synonym="C2GlcNAcT; C2GNT; C2GNT-L; C2GNT1; G6NT;
                     NACGT2; NAGCT2"
                     /inference="alignment:Splign:2.1.0"
     exon            389..5566
                     /gene="GCNT1"
                     /gene_synonym="C2GlcNAcT; C2GNT; C2GNT-L; C2GNT1; G6NT;
                     NACGT2; NAGCT2"
                     /inference="alignment:Splign:2.1.0"
     CDS             532..1818
                     /gene="GCNT1"
                     /gene_synonym="C2GlcNAcT; C2GNT; C2GNT-L; C2GNT1; G6NT;
                     NACGT2; NAGCT2"
                     /EC_number="2.4.1.102"
                     /note="beta-1,6-N-acetylglucosaminyltransferase; core 2
                     branching enzyme; core 2 beta1,6
                     N-acetylglucosaminyltransferase-I; glucosaminyl (N-acetyl)
                     transferase 1, core 2
                     (beta-1,6-N-acetylglucosaminyltransferase); core 2 GnT;
                     core 2 beta-1,6-N-acetylglucosaminyltransferase I;
                     core2-GlcNAc-transferase; leukocyte type core 2
                     beta-1,6-N-acetylglucosaminyltransferase"
                     /codon_start=1
                     /product="beta-1,3-galactosyl-O-glycosyl-glycoprotein
                     beta-1,6-N-acetylglucosaminyltransferase"
                     /protein_id="NP_001481.2"
                     /db_xref="CCDS:CCDS6653.1"
                     /db_xref="GeneID:2650"
                     /db_xref="HGNC:HGNC:4203"
                     /db_xref="MIM:600391"
                     /translation="MLRTLLRRRLFSYPTKYYFMVLVLSLITFSVLRIHQKPEFVSVR
                     HLELAGENPSSDINCTKVLQGDVNEIQKVKLEILTVKFKKRPRWTPDDYINMTSDCSS
                     FIKRRKYIVEPLSKEEAEFPIAYSIVVHHKIEMLDRLLRAIYMPQNFYCIHVDTKSED
                     SYLAAVMGIASCFSNVFVASRLESVVYASWSRVQADLNCMKDLYAMSANWKYLINLCG
                     MDFPIKTNLEIVRKLKLLMGENNLETERMPSHKEERWKKRYEVVNGKLTNTGTVKMLP
                     PLETPLFSGSAYFVVSREYVGYVLQNEKIQKLMEWAQDTYSPDEYLWATIQRIPEVPG
                     SLPASHKYDLSDMQAVARFVKWQYFEGDVSKGAPYPPCDGVHVRSVCIFGAGDLNWML
                     RKHHLFANKFDVDVDLFAIQCLDEHLRHKALETLKH"
     polyA_site      2405
                     /gene="GCNT1"
                     /gene_synonym="C2GlcNAcT; C2GNT; C2GNT-L; C2GNT1; G6NT;
                     NACGT2; NAGCT2"
     regulatory      5441..5446
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GCNT1"
                     /gene_synonym="C2GlcNAcT; C2GNT; C2GNT-L; C2GNT1; G6NT;
                     NACGT2; NAGCT2"
                     /note="hexamer: AATAAA"
     polyA_site      5468
                     /gene="GCNT1"
                     /gene_synonym="C2GlcNAcT; C2GNT; C2GNT-L; C2GNT1; G6NT;
                     NACGT2; NAGCT2"
     regulatory      5541..5546
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GCNT1"
                     /gene_synonym="C2GlcNAcT; C2GNT; C2GNT-L; C2GNT1; G6NT;
                     NACGT2; NAGCT2"
                     /note="hexamer: ATTAAA"
     polyA_site      5566
                     /gene="GCNT1"
                     /gene_synonym="C2GlcNAcT; C2GNT; C2GNT-L; C2GNT1; G6NT;
                     NACGT2; NAGCT2"
                     /note="major polyA site"
ORIGIN      
        1 acgctggtgt gagggctgca ggcgcagctc cggagcgcct agagcgcggc gcggggcggg
       61 agcttggtgg agcaggagcg gctgggcatc ctcctgagac tccggggtca gacgcccact
      121 ccagcgcttt ctgcgcagca caggcaccct cgcctgtcac gcctccctct cctcttcccg
      181 tctcccagcg tggatgaggg cgcctgcaga tcccggctag ggcacggacc gcctaggccg
      241 agatttcttt aaagactcgt gcagcacatc attatcgctg gatgcccgga catgtaatac
      301 acctgacagc atgtgaagtg ctcagaatgg ggcaggatgt cacctggaat cagcactaag
      361 tgattcagac tttccttact tttaaatgtg ctgctcttca tttcaagatg ccgttgcagc
      421 tctgataaat gcaaactgac aaccttcaag gccacgacgg agggaaaatc attggtgctt
      481 ggagcataga agactgccct tcacaaagga aatccctgat tattgtttga aatgctgagg
      541 acgttgctgc gaaggagact tttttcttat cccaccaaat actactttat ggttcttgtt
      601 ttatccctaa tcaccttctc cgttttaagg attcatcaaa agcctgaatt tgtaagtgtc
      661 agacacttgg agcttgctgg ggagaatcct agtagtgata ttaattgcac caaagtttta
      721 cagggtgatg taaatgaaat ccaaaaggta aagcttgaga tcctaacagt gaaatttaaa
      781 aagcgccctc ggtggacacc tgacgactat ataaacatga ccagtgactg ttcttctttc
      841 atcaagagac gcaaatatat tgtagaaccc cttagtaaag aagaggcgga gtttccaata
      901 gcatattcta tagtggttca tcacaagatt gaaatgcttg acaggctgct gagggccatc
      961 tatatgcctc agaatttcta ttgcattcat gtggacacaa aatccgagga ttcctattta
     1021 gctgcagtga tgggcatcgc ttcctgtttt agtaatgtct ttgtggccag ccgattggag
     1081 agtgtggttt atgcatcgtg gagccgggtt caggctgacc tcaactgcat gaaggatctc
     1141 tatgcaatga gtgcaaactg gaagtacttg ataaatcttt gtggtatgga ttttcccatt
     1201 aaaaccaacc tagaaattgt caggaagctc aagttgttaa tgggagaaaa caacctggaa
     1261 acggagagga tgccatccca taaagaagaa aggtggaaga agcggtatga ggtcgttaat
     1321 ggaaagctga caaacacagg gactgtcaaa atgcttcctc cactcgaaac acctctcttt
     1381 tctggcagtg cctacttcgt ggtcagtagg gagtatgtgg ggtatgtact acagaatgaa
     1441 aaaatccaaa agttgatgga gtgggcacaa gacacataca gccctgatga gtatctctgg
     1501 gccaccatcc aaaggattcc tgaagtcccg ggctcactcc ctgccagcca taagtatgat
     1561 ctgtctgaca tgcaagcagt tgccaggttt gtcaagtggc agtactttga gggtgatgtt
     1621 tccaagggtg ctccctaccc gccctgcgat ggagtccatg tgcgctcagt gtgcattttc
     1681 ggagctggtg acttgaactg gatgctgcgc aaacaccact tgtttgccaa taagtttgac
     1741 gtggatgttg acctctttgc catccagtgt ttggatgagc atttgagaca caaagctttg
     1801 gagacattaa aacactgacc attacgggca attttatgaa caagaagaag gatacacaaa
     1861 acgtaccctt atctgtttcc ccttccttgt cagcatcggg aagatggtat gaagtcctct
     1921 ttggggcagg gactctagta gatcttcttg tcagagaagc tgcatggttt ctgcagagca
     1981 cagttagcta gaaaggtgat agcattaaat gttcatctag agttaatagt gggaggagta
     2041 aaggtagcct tgaggccaga gcaggtagca aggcattgtg gaaagagggg accagggtgg
     2101 ctggggaaga ggccgatgca taaagtcagc ctgttcaaag tgctcaggga cttagcaaaa
     2161 tgagaagatg tgacctgtgc caaaactatt ttgagaattt taaatgtgac catttttctg
     2221 gtatgaataa acttacagca acaaataatc aaagatacaa ttaatctgat attatatttg
     2281 ttgaaataga aatttgattg tactataaat gatttttgta aataatttat attctgctct
     2341 aatactgtac tgtgtagtgt gtctccgtat gtcatctcag ggagcttaaa atgggcttga
     2401 tttaacattg tttttgtgtt atttttgctt gaaacaacgc acacattttc aacaaccaaa
     2461 aaatgacaat ttctagttta gttaatttct acaaatcatc ttatgttatt agcaaggtta
     2521 agacatcttt tttaaaaaaa ttatagcttc taccaagaga aacactcaat ttttctagag
     2581 atttgcctct atcttccttt cctcagtctt cccagactgc tatcaagctg tgtaaaaatt
     2641 tactttcact ggaccctaaa ttattgtctc tgctatctga ctgccagtaa ttagtgcaga
     2701 aaactaagac aggatgatac aggtttgagg ggctggggag tgggaggggg gagaaaagga
     2761 atgtatttaa acaatttccg atgcccatga tgagtttaaa aaccagcatt gacaccatcc
     2821 ccaaaattaa ggctgtcgct tattgaatcc acttgtgtcc aacctcccag gattgtttta
     2881 tcctaatgtc acctgtatat tcatttgaaa ggacttggcc ctgttcttgg gtcttcccgt
     2941 tacctgcccc ctgggtggta agtttcctcc tttctcaacc ttccacgagg aggaaagaag
     3001 tgtgcagtca ttccacatgg cctgttggaa ggcctgggga gggaactttg ggtttgggac
     3061 agattttttt ttttgttttt ggtatcattc acagcatacg atttttactc tctccatctt
     3121 caccataaga cagataattt ggggttgcta taatgctgtc acacatctca aagtacattc
     3181 aaatcttaaa aagaaattct cgtacttttg ccatgttgat actgttcagc aaacaagcta
     3241 ccaggaactg tgaggctttg tcatttagca ttagacttta aacaagaatt aaaatcatgt
     3301 gctgtatttt taaaatctag ccaaattaaa tagtacatga gaaattcaga gtattagaca
     3361 gttttaaggc attcaactga gaaaacttta tttgtcaaag tcagaaaaca ttttcatctt
     3421 attgagagat atgtttttaa acttttatca tcatttgtaa atgtggaagt tggtggattg
     3481 ctgtgttttt gcatgattag catgggagtc tgttggagca agaggaacat gcttgttttg
     3541 aaaactcgag atgatgaggg tggtacatgc agtgtgttct ctctttattg gcttctaaac
     3601 cagttttgtc ctttaatgca tgtcaaatat ttctcccatg cttctcttag cagaaaagtt
     3661 tttacctata agacagggca ccttttaact ctaaaactag tgatactcag tgacatagac
     3721 tttgtcttat aaacattttt tcatttttta ttttgaaaaa ttgcaaatct acagcaaaag
     3781 taaaacagta gagtgaacac catgtaaccc tcacctggtg ttaacattgt accctatttg
     3841 ctttaagttg tatgtatttc tgaacttggc aaaattggaa attaaaattt ttaaaaatta
     3901 caaatataca aagttattta tcttagcaca tttattatgt gtgactgcat ctgatttata
     3961 tttaaattgg caggttttga gggatttttt tcttcatcat aaatgtaaac ataggatttt
     4021 agagtctatt tccccaagcg ccacattata actgtaaact taccatcttc tatgtagctg
     4081 tgatatctca tctttctaaa atggaacttg ttaaaaagtg ttcaaacact atccctaatg
     4141 cctgcggcag aatttatata cgatccattc attggggctc aaagtatctt ttagactttt
     4201 aaggacaatt tacagcaaat gaaatttatg atgctgtgac aagaaattta aagaatcaaa
     4261 acgatggttt gaaaaggaaa cctatgatac atgcaggaga agcaaaaccc aagtgattgg
     4321 tgagaaatat agaaattatt taaattactt tatagtaatt attaaacact aatttttgta
     4381 ctgtcattga aggtgtttta tagagaaatc tgagaaatca cattcacaaa ttagaagtca
     4441 aacatggcca ggcacagtgg ctcacacctg taatcttcag gatttcaaga ccagcctagc
     4501 caacatgacg aaaccccatc tctactgaaa atagaaaaaa aaaattagcc aggcttgcac
     4561 ctgtaatccc agttacctgg gaggctgagg caggagaatc tcttgagccc aggaggcgga
     4621 ggttgcagtg agctgagatg ccaccaccac accagcctgg gtgacagagt gaaactcgta
     4681 tctccaaaca aacaaacaaa aagtccttaa acatatgtga acaaaaattt tgtgatggaa
     4741 ggattctagt taatgagtat tgcatcaaga tttacatctt tcttactaag gaaaagagtt
     4801 aataaaaatt gttctttatt ttacaggcag ttactgaggc tcttcccaga tctcagtaaa
     4861 cagccactca gccttgaaaa tggagtgttg ttgtttctaa acatatattt atgtcattta
     4921 ttaagtacag ttcacttaaa taacataagt agattttctc ttgtagtgat ttgggtagga
     4981 agaggccatg tttcagttcg ttttctctgt agggtcgatt gaattggacc ttttcagttg
     5041 ttcagaaaaa taaaaataat ttctcatatt aaatacagac gctcctcaac ttatgatgtg
     5101 ggtaggtccc agtaaaccca ttataatttg aaaatatcac attgaaaatg catttaatat
     5161 ctcttacctg aaatcataac ttagccaagc ctaccttaaa tgttctcaga acatttagcc
     5221 tgcagttggg caaaaccatt taacacaaag cctattttat aatgaagtgt tgaatagctc
     5281 atgttattta ctgaatactg ttgtgaaagt gaaaaacaat gattgtatgg gtactcaaag
     5341 tataatttct actgaatgca tatcacttgt gcactgttgt aaagctgaaa aaccgttaag
     5401 cctctacgat ttttaagtaa gttggggacc atcagtttaa aataaatgca atactatttc
     5461 atgataaaca tggtcactgt aagttttact cttttgaatg agggtgcgac agaatgcagt
     5521 tagaatcagt tcatatcacc attaaaatca tccattcaga aaccaa
//
