LOCUS       NM_145649               4505 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens glucosaminyl (N-acetyl) transferase 2 (I blood group)
            (GCNT2), transcript variant 1, mRNA.
ACCESSION   NM_145649
VERSION     NM_145649.5
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 4505)
  AUTHORS   Perez,M., Chakraborty,A., Lau,L.S., Mohammed,N.B.B. and
            Dimitroff,C.J.
  TITLE     Melanoma-associated glycosyltransferase GCNT2 as an emerging
            biomarker and therapeutic target
  JOURNAL   Br J Dermatol 185 (2), 294-301 (2021)
   PUBMED   33660254
  REMARK    GeneRIF: Melanoma-associated glycosyltransferase GCNT2 as an
            emerging biomarker and therapeutic target.
            Review article
REFERENCE   2  (bases 1 to 4505)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 4505)
  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   4  (bases 1 to 4505)
  AUTHORS   Inaba,N., Hiruma,T., Togayachi,A., Iwasaki,H., Wang,X.H.,
            Furukawa,Y., Sumi,R., Kudo,T., Fujimura,K., Iwai,T., Gotoh,M.,
            Nakamura,M. and Narimatsu,H.
  TITLE     A novel I-branching beta-1,6-N-acetylglucosaminyltransferase
            involved in human blood group I antigen expression
  JOURNAL   Blood 101 (7), 2870-2876 (2003)
   PUBMED   12468428
REFERENCE   5  (bases 1 to 4505)
  AUTHORS   Yu,L.C., Twu,Y.C., Chou,M.L., Reid,M.E., Gray,A.R., Moulds,J.M.,
            Chang,C.Y. and Lin,M.
  TITLE     The molecular genetics of the human I locus and molecular
            background explain the partial association of the adult i phenotype
            with congenital cataracts
  JOURNAL   Blood 101 (6), 2081-2088 (2003)
   PUBMED   12424189
REFERENCE   6  (bases 1 to 4505)
  AUTHORS   Yu,L.C., Twu,Y.C., Chang,C.Y. and Lin,M.
  TITLE     Molecular basis of the adult i phenotype and the gene responsible
            for the expression of the human blood group I antigen
  JOURNAL   Blood 98 (13), 3840-3845 (2001)
   PUBMED   11739194
REFERENCE   7  (bases 1 to 4505)
  AUTHORS   Yeh,J.C., Ong,E. and Fukuda,M.
  TITLE     Molecular cloning and expression of a novel beta-1,
            6-N-acetylglucosaminyltransferase that forms core 2, core 4, and I
            branches
  JOURNAL   J Biol Chem 274 (5), 3215-3221 (1999)
   PUBMED   9915862
REFERENCE   8  (bases 1 to 4505)
  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   9  (bases 1 to 4505)
  AUTHORS   Keats,B., Ott,J. and Conneally,M.
  TITLE     Report of the committee on linkage and gene order
  JOURNAL   Cytogenet Cell Genet 51 (1-4), 459-502 (1989)
   PUBMED   2791656
REFERENCE   10 (bases 1 to 4505)
  AUTHORS   Fukuda,M., Fukuda,M.N. and Hakomori,S.
  TITLE     Developmental change and genetic defect in the carbohydrate
            structure of band 3 glycoprotein of human erythrocyte membrane
  JOURNAL   J Biol Chem 254 (10), 3700-3703 (1979)
   PUBMED   438154
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL139039.17 and AL358777.12.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Oct 10, 2019 this sequence version replaced NM_145649.4.
            
            Summary: This gene encodes the enzyme responsible for formation of
            the blood group I antigen. The i and I antigens are distinguished
            by linear and branched poly-N-acetyllactosaminoglycans,
            respectively. The encoded protein is the I-branching enzyme, a
            beta-1,6-N-acetylglucosaminyltransferase responsible for the
            conversion of fetal i antigen to adult I antigen in erythrocytes
            during embryonic development. Mutations in this gene have been
            associated with adult i blood group phenotype. Alternatively
            spliced transcript variants encoding different isoforms have been
            described. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) contains a different 5' end
            exon compared to variant 2. The encoded isoform (A) is longer and
            has a distinct N-terminus, compared to isoform B.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: SRR14038191.1848844.1,
                                           SRR14038192.1578975.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000495262.7/ ENSP00000419411.2
            RefSeq Select criteria :: based on manual assertion, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-67                AL139039.17        32334-32400
            68-254              AL139039.17        38457-38643
            255-1460            AL139039.17        39614-40819
            1461-1553           AL358777.12        44798-44890
            1554-4505           AL358777.12        49864-52815
FEATURES             Location/Qualifiers
     source          1..4505
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p24.3-p24.2"
     gene            1..4505
                     /gene="GCNT2"
                     /gene_synonym="bA360O19.2; bA421M1.1; CCAT; CTRCT13;
                     GCNT2C; GCNT5; IGNT; II; NACGT1; NAGCT1; ULG3"
                     /note="glucosaminyl (N-acetyl) transferase 2 (I blood
                     group)"
                     /db_xref="GeneID:2651"
                     /db_xref="HGNC:HGNC:4204"
                     /db_xref="MIM:600429"
     exon            1..67
                     /gene="GCNT2"
                     /gene_synonym="bA360O19.2; bA421M1.1; CCAT; CTRCT13;
                     GCNT2C; GCNT5; IGNT; II; NACGT1; NAGCT1; ULG3"
                     /inference="alignment:Splign:2.1.0"
     exon            68..254
                     /gene="GCNT2"
                     /gene_synonym="bA360O19.2; bA421M1.1; CCAT; CTRCT13;
                     GCNT2C; GCNT5; IGNT; II; NACGT1; NAGCT1; ULG3"
                     /inference="alignment:Splign:2.1.0"
     exon            255..1460
                     /gene="GCNT2"
                     /gene_synonym="bA360O19.2; bA421M1.1; CCAT; CTRCT13;
                     GCNT2C; GCNT5; IGNT; II; NACGT1; NAGCT1; ULG3"
                     /inference="alignment:Splign:2.1.0"
     CDS             536..1744
                     /gene="GCNT2"
                     /gene_synonym="bA360O19.2; bA421M1.1; CCAT; CTRCT13;
                     GCNT2C; GCNT5; IGNT; II; NACGT1; NAGCT1; ULG3"
                     /EC_number="2.4.1.150"
                     /note="isoform A is encoded by transcript variant 1; Ii
                     blood group; I beta-1,6-N-acetylglucosaminyltransferase;
                     N-acetyllactosaminide
                     beta-1,6-N-acetylglucosaminyl-transferase;
                     beta-1,6-N-acetylglucosaminyltransferase 2; glucosaminyl
                     (N-acetyl) transferase 2, I-branching enzyme (I blood
                     group)"
                     /codon_start=1
                     /product="N-acetyllactosaminide
                     beta-1,6-N-acetylglucosaminyl-transferase isoform A"
                     /protein_id="NP_663624.1"
                     /db_xref="CCDS:CCDS34338.1"
                     /db_xref="GeneID:2651"
                     /db_xref="HGNC:HGNC:4204"
                     /db_xref="MIM:600429"
                     /translation="MMGSWKHCLFSASLISALIFVFVYNTELWENKRFLRAALSNASL
                     LAEACHQIFEGKVFYPTENALKTTLDEATCYEYMVRSHYVTETLSEEEAGFPLAYTVT
                     IHKDFGTFERLFRAIYMPQNVYCVHLDQKATDAFKGAVKQLLSCFPNAFLASKKESVV
                     YGGISRLQADLNCLEDLVASEVPWKYVINTCGQDFPLKTNREIVQYLKGFKGKNITPG
                     VLPPDHAVGRTKYVHQELLNHKNSYVIKTTKLKTPPPHDMVIYFGTAYVALTRDFANF
                     VLQDQLALDLLSWSKDTYSPDEHFWVTLNRIPGVPGSMPNASWTGNLRAIKWSDMEDR
                     HGGCHGHYVHGICIYGNGDLKWLVNSPSLFANKFELNTYPLTVECLELRHRERTLNQS
                     ETAIQPSWYF"
     exon            1461..1553
                     /gene="GCNT2"
                     /gene_synonym="bA360O19.2; bA421M1.1; CCAT; CTRCT13;
                     GCNT2C; GCNT5; IGNT; II; NACGT1; NAGCT1; ULG3"
                     /inference="alignment:Splign:2.1.0"
     exon            1554..4505
                     /gene="GCNT2"
                     /gene_synonym="bA360O19.2; bA421M1.1; CCAT; CTRCT13;
                     GCNT2C; GCNT5; IGNT; II; NACGT1; NAGCT1; ULG3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4482..4487
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GCNT2"
                     /gene_synonym="bA360O19.2; bA421M1.1; CCAT; CTRCT13;
                     GCNT2C; GCNT5; IGNT; II; NACGT1; NAGCT1; ULG3"
                     /note="hexamer: AATAAA"
     polyA_site      4505
                     /gene="GCNT2"
                     /gene_synonym="bA360O19.2; bA421M1.1; CCAT; CTRCT13;
                     GCNT2C; GCNT5; IGNT; II; NACGT1; NAGCT1; ULG3"
                     /note="major polyA site"
ORIGIN      
        1 aaacaggctt actgtgttca ctgctggacg cctctgggca atcttaccct cctgggaact
       61 gagagagaca atgctaggag ccagaaacat gaggaataca tgagctcggc gccaatggaa
      121 catgctttca caccgggtgc agctaaccac cacatcatac aaaactcgtc gctgacgttt
      181 tagatgtata atctgattgg catggactca cagaggaggg agtaagggaa gagtaagaag
      241 atttcaaagg agagacacag gttgcaggtt agcaggagaa caggcaagcc aaatgcaaag
      301 gagccacttc agaaatgtgt cacagaaaag tgaaaatgca acctagtggt aagtgaagag
      361 gggaagaaga aagaaaaagg accagaaccg tgaactgaag ggacagggaa cagccagacg
      421 agagcttcag ccatcacgag gatgatttcg gaacctggag aaaatgtaag ttaaatatat
      481 ctacactctg atcctatctc aagagagaga tattttactc atttcctggt tgtgaatgat
      541 gggctcttgg aagcactgtc tttttagcgc gtctcttatc tctgccctga tttttgtatt
      601 tgtttacaat actgagttat gggagaataa acgttttctg agggcagctc tgtccaatgc
      661 ttcactgtta gcagaagcct gtcatcagat ttttgagggg aaagtttttt acccaacaga
      721 aaatgcattg aaaactaccc ttgatgaagc tacctgctat gagtacatgg ttcgaagcca
      781 ctatgtaaca gaaacactct ctgaagaaga ggctgggttc cctttagctt acacagtgac
      841 catccacaaa gacttcggca cttttgagag gctcttcagg gcgatttata tgccccaaaa
      901 tgtctactgt gtgcacctgg atcagaaggc gacggatgcc tttaaaggtg cagtgaaaca
      961 gttactcagc tgcttcccaa atgcttttct ggcttccaag aaggagtcgg ttgtctatgg
     1021 ggggatctcc aggctccagg ctgacctgaa ctgcctggaa gaccttgtgg cctctgaagt
     1081 tccctggaag tatgtcatca acacctgcgg gcaagacttt cccctgaaaa ccaacaggga
     1141 aatagttcag tatctgaagg gatttaaagg gaaaaatatc acccccggag tgctgcctcc
     1201 tgaccacgct gttggacgga ctaaatacgt ccaccaagaa ctgttaaacc acaaaaattc
     1261 ctacgtgatt aaaacaacaa aattaaaaac tcctcctcct catgacatgg tgatttactt
     1321 tggcacggcc tacgtggctc tcacaaggga ctttgctaac ttcgtcctcc aagaccagct
     1381 cgcacttgac ttactctcct ggtccaagga cacctacagc cccgacgaac atttctgggt
     1441 gacactcaac aggattcccg gtgttcctgg ctctatgcca aatgcatcct ggactggaaa
     1501 cctcagagct ataaagtgga gtgacatgga agacagacac ggaggctgcc acggccacta
     1561 tgtacatggt atttgtatct atggaaacgg agacttaaag tggctggtta attcaccaag
     1621 cctgtttgct aacaagtttg agcttaatac ctaccccctt actgtggaat gcctagaact
     1681 gaggcatcgc gaaagaaccc tcaatcagag tgaaactgcg atacaaccca gctggtattt
     1741 ttgagctatt catgagctac tcatgactga agggaaactg cagctgggaa gaggagcctg
     1801 tttttgtgag agacttttgc cttcgtaatg ttaaccgttt caggaccacg tttatagctt
     1861 caggacctgg ctacgtaatt atacttaaaa tatccactgg acactgtgaa atacactaac
     1921 aggatggctg ggtagagcaa tctgggcact ttggccaatt ttagtcttgc tgtttcttga
     1981 tgctcacctc tatattagtt tattgttagg atcaatgata aatttaaatg acctcagatc
     2041 tttgcaccag atactcatca tatacaaatg ttttagtaaa aaagagaatt gtagataata
     2101 ctgtctagga aaataagaat taggtttctt tgaagaagga atcttttata acaccttaac
     2161 agtcaccact gtgctcaacc agacagatag tgaaacagct ttctgggtaa ttcaccaatt
     2221 tcctttaaaa cataagctac ctgaatggag aatacatctt gtttctgagt ttcaacacta
     2281 gcatttttgg cttactcatg gacaaagttc tgtatatagt ataaagtcat taacaagaaa
     2341 caggatatgc tttaagacag aattcactgt ctgttgcttc agtaaaagga cctcggggaa
     2401 taaaacattt ctctcttata tgccagaatg taggctggtc cctatgtcat gtcttccatt
     2461 aagaacacta aaaagtcctt gcaagaatgg agatatgcat tcaagagagg tgctatcaca
     2521 tagatctagt ctgaagtctg gaacactttc ctcttctatg acccctctct ccccagtatt
     2581 atcttacttg caaaatggag accaaattct atcctgtgag gcttttaatt gcaccatagt
     2641 atgctctgag tagctttaca ctgcctggta ctgatagtag tggctcgatt tttaagagcc
     2701 ttcaattgta gatgaacatc tctgttattt atccctcatt catccatccg ttcattcatt
     2761 cagccttcaa tcaacatctc ttgagtgtct attatgtaca ggacatgtac tgagacaaaa
     2821 aggaaacata agagcttttt cactctaaaa atcttggcaa taatgtcaac accagaaagc
     2881 ctcctctgga gaatcttaca gagtgattgt agtttaatac aggaacacac agggctgtgt
     2941 agcatgatac caggcccagg agatcagtaa ttacaaatta agggttaaat cagagattat
     3001 tcaacagaga gggagaaagg aggagacaga gggaggacct gttgtgttcc agccattctg
     3061 gtattccttt atgtatctaa tttcattcaa acctcacaac agtcttgtga ggcccttata
     3121 taattactcc cattttgcag atgaagtaac tgaggcttag aaaggttaat agcaccgggg
     3181 aacaatttct ctgggtgaga attgggactc tgttgctggt cttctcagtt catttcctga
     3241 ggtggattta ctgagagaag gtgaaataaa gccatattta gtataccaga gaaggtagat
     3301 tttaagaatg gtctcagtgt taatactgag aaaaagtcct gtcagttcag aaaaaatgtg
     3361 aagtctactt tagtattcct gtaatactaa accgttgagt ttctaaatat ttatttattc
     3421 taacaaaaag caattactac aaatggatga cacatttaat gaacacaatt ttattttttt
     3481 tctgtaactg tgcttgttga atgtcaatca tatttaaagg gaatgacttt gaagtaaaac
     3541 cttttttctt gctactgaaa aaaatggagt tgttttgggt ggtaaagtgt taaggaatag
     3601 ggacagctgg tcacacaagg aactcttgaa ggccacatgt gaaaacctgt cacttgcaca
     3661 gaggccagtc ccactaaggt gaccagagtg ggctccaagc acaaactgcc attggctata
     3721 gatgggactg tgtcccccca aaattcatgt gttggagcct taaccctcaa tgtgatggta
     3781 tttgagatgg ggcctttggt aagggaagtt tagatgaggt cacgagggta ggaccctcat
     3841 gatgggatga gtccccttac aagacctctg gcttgggccg ggcgtggtgg ctcacacctg
     3901 taatcccaac actttgggag gccaaggcag gtagatcact tgatgccagg agttccagac
     3961 caggctggcc gacatggtga aaccccatct ctactaaaaa atataaaaat tagccgggct
     4021 ttgtggcatg tgcctgtaat cccagctatt tggcaggctg aggcatgaga atcgcttgaa
     4081 cccaggaggt ggaggttaca gtgagctgag agtgccccac tgcactccag cctgggtgac
     4141 agagcgagac tttgtcccaa aacaaaatag gtgaggggat agcgaatgca ctcagggtca
     4201 gcagtggagt ttaaaaattg tctcttttca acttatttaa atgacagcac ctgagaagag
     4261 gaaccgtttt acactggatg tttctcatgt agaacaagaa atctttctgg aattgatgtt
     4321 tacatgtctg ttgttggtca tctctcctgt gtcttaaata ctttaatgtt ggaagagcat
     4381 agtgtttggg ctagtgggtt tctgacagcc catgggaatg ccctgaaact actgtatctg
     4441 atgtttgttt tcgatgaggt tccatgtttt gttttcttgg gaataaatta atatattgtt
     4501 ttcca
//
