LOCUS       NM_001122636            2933 bp    mRNA    linear   PRI 09-FEB-2024
DEFINITION  Homo sapiens polypeptide N-acetylgalactosaminyltransferase 9
            (GALNT9), transcript variant A, mRNA.
ACCESSION   NM_001122636 XM_001129598 XM_001713890 XM_001716058
VERSION     NM_001122636.2
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 2933)
  AUTHORS   Berois,N., Gattolliat,C.H., Barrios,E., Capandeguy,L.,
            Douc-Rasy,S., Valteau-Couanet,D., Benard,J. and Osinaga,E.
  TITLE     GALNT9 gene expression is a prognostic marker in neuroblastoma
            patients
  JOURNAL   Clin Chem 59 (1), 225-233 (2013)
   PUBMED   23136245
  REMARK    GeneRIF: GALNT9 expression correlates with both improved overall
            survival in low- and high-risk groups and an improved clinical
            outcome (overall and disease-free survival) in low-risk patients
REFERENCE   2  (bases 1 to 2933)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   3  (bases 1 to 2933)
  AUTHORS   Zhang,Y., Iwasaki,H., Wang,H., Kudo,T., Kalka,T.B., Hennet,T.,
            Kubota,T., Cheng,L., Inaba,N., Gotoh,M., Togayachi,A., Guo,J.,
            Hisatomi,H., Nakajima,K., Nishihara,S., Nakamura,M., Marth,J.D. and
            Narimatsu,H.
  TITLE     Cloning and characterization of a new human
            UDP-N-acetyl-alpha-D-galactosamine:polypeptide
            N-acetylgalactosaminyltransferase, designated pp-GalNAc-T13, that
            is specifically expressed in neurons and synthesizes GalNAc
            alpha-serine/threonine antigen
  JOURNAL   J Biol Chem 278 (1), 573-584 (2003)
   PUBMED   12407114
REFERENCE   4  (bases 1 to 2933)
  AUTHORS   Toba,S., Tenno,M., Konishi,M., Mikami,T., Itoh,N. and Kurosaka,A.
  TITLE     Brain-specific expression of a novel human UDP-GalNAc:polypeptide
            N-acetylgalactosaminyltransferase (GalNAc-T9)
  JOURNAL   Biochim Biophys Acta 1493 (1-2), 264-268 (2000)
   PUBMED   10978536
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC148477.3, DA206384.1,
            BM925654.1, AB040672.2, DR001000.1, CB154648.1, AF458594.1 and
            BM672467.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001122636.1.
            
            Summary: This gene encodes a member of the
            UDP-N-acetyl-alpha-D-galactosamine:polypeptide
            N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes.
            GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi
            apparatus by catalyzing the transfer of GalNAc to serine and
            threonine residues on target proteins. They are characterized by an
            N-terminal transmembrane domain, a stem region, a lumenal catalytic
            domain containing a GT1 motif and Gal/GalNAc transferase motif, and
            a C-terminal ricin/lectin-like domain. GalNAc-Ts have different,
            but overlapping, substrate specificities and patterns of
            expression. This gene is expressed specifically in the brain, with
            highest expression in the cerebellum. Multiple transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (A) represents the longer
            transcript and encodes the longer isoform (A).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.156822.1,
                                           SRR1660805.10122.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000328957.13/ ENSP00000329846.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-270               AC148477.3         98914-99183         c
            271-837             DA206384.1         9-575
            838-1281            BM925654.1         346-789
            1282-1561           AB040672.2         896-1175
            1562-1903           DR001000.1         160-501
            1904-1990           CB154648.1         294-380
            1991-2739           AF458594.1         782-1530
            2740-2933           BM672467.1         18-211              c
FEATURES             Location/Qualifiers
     source          1..2933
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.33"
     gene            1..2933
                     /gene="GALNT9"
                     /gene_synonym="GALNAC-T9; GALNACT9"
                     /note="polypeptide N-acetylgalactosaminyltransferase 9"
                     /db_xref="GeneID:50614"
                     /db_xref="HGNC:HGNC:4131"
                     /db_xref="MIM:606251"
     exon            1..624
                     /gene="GALNT9"
                     /gene_synonym="GALNAC-T9; GALNACT9"
                     /inference="alignment:Splign:2.1.0"
     CDS             387..2198
                     /gene="GALNT9"
                     /gene_synonym="GALNAC-T9; GALNACT9"
                     /EC_number="2.4.1.41"
                     /note="isoform A is encoded by transcript variant A;
                     protein-UDP acetylgalactosaminyltransferase 9; GalNAc
                     transferase 9; UDP-GalNAc: polypeptide
                     N-acetylgalactosaminyltransferase 9; pp-GaNTase 9;
                     polypeptide GalNAc transferase 9;
                     UDP-N-acetyl-alpha-D-galactosamine:polypeptide
                     N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"
                     /codon_start=1
                     /product="polypeptide N-acetylgalactosaminyltransferase 9
                     isoform A"
                     /protein_id="NP_001116108.1"
                     /db_xref="CCDS:CCDS81755.1"
                     /db_xref="GeneID:50614"
                     /db_xref="HGNC:HGNC:4131"
                     /db_xref="MIM:606251"
                     /translation="MAVARKIRTLLTVNILVFVGIVLFSVYCRLQGRSQELVRIVSGD
                     RRVRSRHAKVGTLGDREAILQRLDHLEEVVYNQLNGLAKPIGLVEGPGGLGQGGLAAT
                     LRDDGQEAEGKYEEYGYNAQLSDRISLDRSIPDYRPRKCRQMSYAQDLPQVSVVFIFV
                     NEALSVILRSVHSVVNHTPSQLLKEVILVDDNSDNVELKFNLDQYVNKRYPGLVKIVR
                     NSRREGLIRARLQGWKAATAPVVGFFDAHVEFNTGWAEPALSRIREDRRRIVLPAIDN
                     IKYSTFEVQQYANAAHGYNWGLWCMYIIPPQDWLDRGDESAPIRTPAMIGCSFVVDRE
                     YFGDIGLLDPGMEVYGGENVELGMRVWQCGGSMEVLPCSRVAHIERTRKPYNNDIDYY
                     AKRNALRAAEVWMDDFKSHVYMAWNIPMSNPGVDFGDVSERLALRQRLKCRSFKWYLE
                     NVYPEMRVYNNTLTYGEVRNSKASAYCLDQGAEDGDRAILYPCHGMSSQLVRYSADGL
                     LQLGPLGSTAFLPDSKCLVDDGTGRMPTLKKCEDVARPTQRLWDFTQSGPIVSRATGR
                     CLEVEMSKDANFGLRLVVQRCSGQKWMIRNWIKHARH"
     exon            625..805
                     /gene="GALNT9"
                     /gene_synonym="GALNAC-T9; GALNACT9"
                     /inference="alignment:Splign:2.1.0"
     exon            806..972
                     /gene="GALNT9"
                     /gene_synonym="GALNAC-T9; GALNACT9"
                     /inference="alignment:Splign:2.1.0"
     exon            973..1147
                     /gene="GALNT9"
                     /gene_synonym="GALNAC-T9; GALNACT9"
                     /inference="alignment:Splign:2.1.0"
     exon            1148..1345
                     /gene="GALNT9"
                     /gene_synonym="GALNAC-T9; GALNACT9"
                     /inference="alignment:Splign:2.1.0"
     exon            1346..1463
                     /gene="GALNT9"
                     /gene_synonym="GALNAC-T9; GALNACT9"
                     /inference="alignment:Splign:2.1.0"
     exon            1464..1649
                     /gene="GALNT9"
                     /gene_synonym="GALNAC-T9; GALNACT9"
                     /inference="alignment:Splign:2.1.0"
     exon            1650..1787
                     /gene="GALNT9"
                     /gene_synonym="GALNAC-T9; GALNACT9"
                     /inference="alignment:Splign:2.1.0"
     exon            1788..1883
                     /gene="GALNT9"
                     /gene_synonym="GALNAC-T9; GALNACT9"
                     /inference="alignment:Splign:2.1.0"
     exon            1884..2051
                     /gene="GALNT9"
                     /gene_synonym="GALNAC-T9; GALNACT9"
                     /inference="alignment:Splign:2.1.0"
     exon            2052..2933
                     /gene="GALNT9"
                     /gene_synonym="GALNAC-T9; GALNACT9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2775..2780
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALNT9"
                     /gene_synonym="GALNAC-T9; GALNACT9"
                     /note="hexamer: AATAAA"
     polyA_site      2797
                     /gene="GALNT9"
                     /gene_synonym="GALNAC-T9; GALNACT9"
                     /note="major polyA site"
     regulatory      2902..2907
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALNT9"
                     /gene_synonym="GALNAC-T9; GALNACT9"
                     /note="hexamer: AATAAA"
     polyA_site      2933
                     /gene="GALNT9"
                     /gene_synonym="GALNAC-T9; GALNACT9"
ORIGIN      
        1 gtcactctgc accggcgcgg tggctgcggg gcgggcagga caggagccgg cacagacacc
       61 gagcgccgcc cgcccgcgcc ttccccgccg ccccccggcg cccccggccc ccctcaccgc
      121 tccccggggc ggggccgcgc cctctgagcg ggggatgccg gccgcgcccc gcgaccccag
      181 ccccgggcag ccctctgcgc tctgggggac ccccggcggc cgtggcccgg cgcgctgagc
      241 tggtgctgaa gggacagctc cggccgagcc ccgcagcccc cgcagccccg ggcggctcat
      301 ggtccccgaa gccgaagctg aagcccaggc ccgggcgggg atgctgggga tgccccgcgg
      361 gtgaggcccc cgctgcagcc gtgttcatgg cggtggccag gaagatccga actttgctga
      421 cggtgaacat cctggtgttc gtgggcatcg tcctgttctc cgtgtactgc cgcctgcagg
      481 gccgctccca ggagctcgtg cgcatcgtga gcggcgaccg ccgggtgcgc agccgacacg
      541 ccaaggtggg cacgctgggg gaccgtgagg ccatcctgca gcgcctggac cacctggagg
      601 aggtggtcta caaccagctc aacggccttg ccaagcccat cggcctggtg gaggggccag
      661 gaggcctggg ccagggtggc ttggcggcca ccctgcgtga tgacggccag gaggcggaag
      721 gcaagtatga ggagtacggc tacaacgctc agctcagcga ccgcatctcc ctcgatcgga
      781 gcatccccga ctaccggccc agaaagtgca gacagatgag ctacgcccag gacctgcccc
      841 aggtctccgt ggtcttcatc ttcgtcaatg aggcgctgtc ggtcatcctg cgctccgtgc
      901 acagcgtggt caaccacacg ccctcccagc tcctcaagga ggtcatcctg gtggacgaca
      961 acagtgacaa cgtggaactc aagttcaatc tggaccagta cgtcaacaag cggtacccag
     1021 gcctcgtgaa gattgtccgc aacagccggc gggaaggact gatccgcgcg cggctgcagg
     1081 gctggaaggc ggccaccgcc ccagtcgtcg gcttctttga tgcccacgtc gagttcaaca
     1141 cgggctgggc cgagcccgca ctgtcgcgga tccgagagga ccggcgtcgc atcgtgctgc
     1201 cagccatcga caacatcaag tacagcacgt ttgaggtgca gcagtatgcg aacgccgccc
     1261 atggctacaa ctggggcctc tggtgcatgt acatcatccc cccgcaggac tggctggacc
     1321 gcggcgacga gtcagcaccc atcaggaccc cagccatgat cggctgctcc ttcgtagtgg
     1381 accgcgagta cttcggagac attgggctgc tggaccccgg catggaggtg tatggcggcg
     1441 agaacgtaga actgggcatg agggtgtggc agtgtggcgg cagcatggag gtgctgccct
     1501 gctcccgcgt ggcccacatc gagcgcacca ggaagcccta caacaacgac attgactact
     1561 atgccaagcg caacgccctg cgcgccgccg aggtgtggat ggatgacttc aagtcccacg
     1621 tgtacatggc ctggaacatc cccatgtcga acccaggggt ggacttcggg gacgtgtctg
     1681 agaggctggc cctgcgtcag aggctgaagt gtcgcagctt caagtggtac ctggagaacg
     1741 tgtacccgga gatgagggtc tacaacaaca ccctcacgta cggagaggtg agaaacagca
     1801 aagccagtgc ctactgtctg gaccagggag cggaggacgg cgaccgggcg atcctctacc
     1861 cctgccacgg gatgtcctcc cagctggtgc ggtacagcgc tgatggactg ctgcagctgg
     1921 ggcctctggg ctccacagcc ttcttgcctg actccaagtg tctggtggat gacggcacgg
     1981 gccgcatgcc caccctgaag aagtgtgagg atgtggcgcg gccaacacag cggctgtggg
     2041 acttcaccca gagtggcccc attgtgagcc gggccacggg ccgctgcctg gaggtggaga
     2101 tgtccaaaga tgccaacttt gggctccggc tggtggtaca gaggtgctcg gggcagaagt
     2161 ggatgatcag aaactggatc aaacacgcac ggcactgacc ccacctccgc ccggaccccc
     2221 acagacctcg ggaaggcgct gggccgagcc agtgtggctg agtgaccggg gtgtgcccgg
     2281 cagacacagc aggacagggc tctatgtgcg gccaggacag cagaggctga ggggccgggg
     2341 tgtggctgag tgaccagggt gtcacccact gcatctggag tacagcttct cctaggacag
     2401 gcggctctac ccgagggagg gcgtctgggg acagtgatgc caactcaaac acgtgccttc
     2461 tccacggtat ctcctggcca ggctgctggg acagccgccg cctctgcatg taccacagcc
     2521 ccccacgccc catagggagg ccaagccccg gaccatgcac caggctgcac cctggtgtct
     2581 tccacccgca ggcctcccat gctccaagca gcctccccca gcacttgcgg ccgctcagcc
     2641 ctccaaccaa gacctaagtc acacatcata atgcagctcc ttgtggtctg gtaagagggg
     2701 tgctggagga catggacagc gacaaacctg aggccgtgtc taggaggctg gcacgactgc
     2761 ttcagcagag accaaataaa gagaggatta ggcagcagca ctgtgtgtgt cttcctggga
     2821 gccgagctgg gggttggggc ccggtcccac ctctttccca ggcacctggg ccctgccgca
     2881 gcccagcccc ttgcctgttt taataaatac agttttattg gcgcccagcc aca
//
