LOCUS       NM_004482               3436 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens polypeptide N-acetylgalactosaminyltransferase 3
            (GALNT3), mRNA.
ACCESSION   NM_004482
VERSION     NM_004482.4
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 3436)
  AUTHORS   Cheng,D., Chu,F., Liang,F., Zhang,N., Wang,J. and Yue,W.
  TITLE     Downregulation of circ-RAPGEF5 inhibits colorectal cancer
            progression by reducing the expression of polypeptide
            N-acetylgalactosaminyltransferase 3 (GALNT3)
  JOURNAL   Environ Toxicol 39 (8), 4249-4260 (2024)
   PUBMED   38775215
  REMARK    GeneRIF: Downregulation of circ-RAPGEF5 inhibits colorectal cancer
            progression by reducing the expression of polypeptide
            N-acetylgalactosaminyltransferase 3 (GALNT3).
REFERENCE   2  (bases 1 to 3436)
  AUTHORS   Luo,D., Fang,M., Shao,L., Wang,J., Liang,Y., Chen,M., Gui,X.,
            Yan,J., Wang,W., Yu,L., Fan,X. and Wu,Q.
  TITLE     The EMT-Related Genes GALNT3 and OAS1 are Associated with Immune
            Cell Infiltration and Poor Prognosis in Lung Adenocarcinoma
  JOURNAL   Front Biosci (Landmark Ed) 28 (10), 271 (2023)
   PUBMED   37919050
  REMARK    GeneRIF: The EMT-Related Genes GALNT3 and OAS1 are Associated with
            Immune Cell Infiltration and Poor Prognosis in Lung Adenocarcinoma.
REFERENCE   3  (bases 1 to 3436)
  AUTHORS   Guo,L., Wang,Y., Li,S., Zhou,L. and Li,D.
  TITLE     GALNT3 protects against phosphate-induced calcification in vascular
            smooth muscle cells by enhancing active FGF23 and inhibiting the
            wnt/beta-catenin signaling pathway
  JOURNAL   Cell Signal 100, 110477 (2022)
   PUBMED   36162588
  REMARK    GeneRIF: GALNT3 protects against phosphate-induced calcification in
            vascular smooth muscle cells by enhancing active FGF23 and
            inhibiting the wnt/beta-catenin signaling pathway.
REFERENCE   4  (bases 1 to 3436)
  AUTHORS   Garay,Y.C., Cejas,R.B., Lorenz,V., Zlocowski,N., Parodi,P.,
            Ferrero,F.A., Angeloni,G., Garcia,V.A., Sendra,V.G., Lardone,R.D.
            and Irazoqui,F.J.
  TITLE     Polypeptide N-acetylgalactosamine transferase 3: a
            post-translational writer on human health
  JOURNAL   J Mol Med (Berl) 100 (10), 1387-1403 (2022)
   PUBMED   36056254
  REMARK    GeneRIF: Polypeptide N-acetylgalactosamine transferase 3: a
            post-translational writer on human health.
            Review article
REFERENCE   5  (bases 1 to 3436)
  AUTHORS   Zhang,J., Cai,Q., Chen,W., Huang,M., Guan,R. and Jin,T.
  TITLE     Relationship between rs7586085, GALNT3 and CCDC170 gene
            polymorphisms and the risk of osteoporosis among the Chinese Han
            population
  JOURNAL   Sci Rep 12 (1), 6089 (2022)
   PUBMED   35414641
  REMARK    GeneRIF: Relationship between rs7586085, GALNT3 and CCDC170 gene
            polymorphisms and the risk of osteoporosis among the Chinese Han
            population.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3436)
  AUTHORS   Bennett,E.P., Weghuis,D.O., Merkx,G., van Kessel,A.G., Eiberg,H.
            and Clausen,H.
  TITLE     Genomic organization and chromosomal localization of three members
            of the UDP-N-acetylgalactosamine: polypeptide
            N-acetylgalactosaminyltransferase family
  JOURNAL   Glycobiology 8 (6), 547-555 (1998)
   PUBMED   9592121
REFERENCE   7  (bases 1 to 3436)
  AUTHORS   Rottger,S., White,J., Wandall,H.H., Olivo,J.C., Stark,A.,
            Bennett,E.P., Whitehouse,C., Berger,E.G., Clausen,H. and Nilsson,T.
  TITLE     Localization of three human polypeptide GalNAc-transferases in HeLa
            cells suggests initiation of O-linked glycosylation throughout the
            Golgi apparatus
  JOURNAL   J Cell Sci 111 (Pt 1), 45-60 (1998)
   PUBMED   9394011
REFERENCE   8  (bases 1 to 3436)
  AUTHORS   Wandall,H.H., Hassan,H., Mirgorodskaya,E., Kristensen,A.K.,
            Roepstorff,P., Bennett,E.P., Nielsen,P.A., Hollingsworth,M.A.,
            Burchell,J., Taylor-Papadimitriou,J. and Clausen,H.
  TITLE     Substrate specificities of three members of the human
            UDP-N-acetyl-alpha-D-galactosamine:Polypeptide
            N-acetylgalactosaminyltransferase family, GalNAc-T1, -T2, and -T3
  JOURNAL   J Biol Chem 272 (38), 23503-23514 (1997)
   PUBMED   9295285
REFERENCE   9  (bases 1 to 3436)
  AUTHORS   Bennett,E.P., Hassan,H. and Clausen,H.
  TITLE     cDNA cloning and expression of a novel human
            UDP-N-acetyl-alpha-D-galactosamine. Polypeptide
            N-acetylgalactosaminyltransferase, GalNAc-t3
  JOURNAL   J Biol Chem 271 (29), 17006-17012 (1996)
   PUBMED   8663203
REFERENCE   10 (bases 1 to 3436)
  AUTHORS   Ramnitz,M.S., Gafni,R.I. and Collins,M.T.
  TITLE     Hyperphosphatemic Familial Tumoral Calcinosis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   29389098
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB098143.1, BC113565.1,
            BU567493.1, BX094158.1 and AC009495.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_004482.3.
            
            Summary: This gene encodes UDP-GalNAc transferase 3, a member of
            the GalNAc-transferases family. This family transfers an N-acetyl
            galactosamine to the hydroxyl group of a serine or threonine
            residue in the first step of O-linked oligosaccharide biosynthesis.
            Individual GalNAc-transferases have distinct activities and
            initiation of O-glycosylation is regulated by a repertoire of
            GalNAc-transferases.  The protein encoded by this gene is highly
            homologous to other family members, however the enzymes have
            different substrate specificities. [provided by RefSeq, Jul 2008].
            
            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 :: SRR1660809.206184.1,
                                           SRR1660807.255436.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000392701.8/ ENSP00000376465.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-563               DB098143.1         37-599
            564-2343            BC113565.1         251-2030
            2344-2930           BU567493.1         118-704
            2931-3221           BX094158.1         411-701
            3222-3436           AC009495.5         40916-41130         c
FEATURES             Location/Qualifiers
     source          1..3436
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.3"
     gene            1..3436
                     /gene="GALNT3"
                     /gene_synonym="GalNAc-T3; HFTC; HFTC1; HHS"
                     /note="polypeptide N-acetylgalactosaminyltransferase 3"
                     /db_xref="GeneID:2591"
                     /db_xref="HGNC:HGNC:4125"
                     /db_xref="MIM:601756"
     exon            1..233
                     /gene="GALNT3"
                     /gene_synonym="GalNAc-T3; HFTC; HFTC1; HHS"
                     /inference="alignment:Splign:2.1.0"
     exon            234..856
                     /gene="GALNT3"
                     /gene_synonym="GalNAc-T3; HFTC; HFTC1; HHS"
                     /inference="alignment:Splign:2.1.0"
     CDS             342..2243
                     /gene="GALNT3"
                     /gene_synonym="GalNAc-T3; HFTC; HFTC1; HHS"
                     /EC_number="2.4.1.41"
                     /note="polypeptide GalNAc-transferase T3; GalNAc
                     transferase 3; pp-GaNTase 3;
                     UDP-N-acetyl-alpha-D-galactosamine:polypeptide
                     N-acetylgalactosaminyltransferase 3 (GalNAc-T3);
                     polypeptide GalNAc transferase 3; protein-UDP
                     acetylgalactosaminyltransferase 3; UDP-GalNAc:polypeptide
                     N-acetylgalactosaminyltransferase 3"
                     /codon_start=1
                     /product="polypeptide N-acetylgalactosaminyltransferase 3"
                     /protein_id="NP_004473.2"
                     /db_xref="CCDS:CCDS2226.1"
                     /db_xref="GeneID:2591"
                     /db_xref="HGNC:HGNC:4125"
                     /db_xref="MIM:601756"
                     /translation="MAHLKRLVKLHIKRHYHKKFWKLGAVIFFFIIVLVLMQREVSVQ
                     YSKEESRMERNMKNKNKMLDLMLEAVNNIKDAMPKMQIGAPVRQNIDAGERPCLQGYY
                     TAAELKPVLDRPPQDSNAPGASGKAFKTTNLSVEEQKEKERGEAKHCFNAFASDRISL
                     HRDLGPDTRPPECIEQKFKRCPPLPTTSVIIVFHNEAWSTLLRTVHSVLYSSPAILLK
                     EIILVDDASVDEYLHDKLDEYVKQFSIVKIVRQRERKGLITARLLGATVATAETLTFL
                     DAHCECFYGWLEPLLARIAENYTAVVSPDIASIDLNTFEFNKPSPYGSNHNRGNFDWS
                     LSFGWESLPDHEKQRRKDETYPIKTPTFAGGLFSISKEYFEYIGSYDEEMEIWGGENI
                     EMSFRVWQCGGQLEIMPCSVVGHVFRSKSPHSFPKGTQVIARNQVRLAEVWMDEYKEI
                     FYRRNTDAAKIVKQKAFGDLSKRFEIKHRLQCKNFTWYLNNIYPEVYVPDLNPVISGY
                     IKSVGQPLCLDVGENNQGGKPLIMYTCHGLGGNQYFEYSAQHEIRHNIQKELCLHAAQ
                     GLVQLKACTYKGHKTVVTGEQIWEIQKDQLLYNPFLKMCLSANGEHPSLVSCNPSDPL
                     QKWILSQND"
     exon            857..1029
                     /gene="GALNT3"
                     /gene_synonym="GalNAc-T3; HFTC; HFTC1; HHS"
                     /inference="alignment:Splign:2.1.0"
     exon            1030..1179
                     /gene="GALNT3"
                     /gene_synonym="GalNAc-T3; HFTC; HFTC1; HHS"
                     /inference="alignment:Splign:2.1.0"
     exon            1180..1414
                     /gene="GALNT3"
                     /gene_synonym="GalNAc-T3; HFTC; HFTC1; HHS"
                     /inference="alignment:Splign:2.1.0"
     exon            1415..1532
                     /gene="GALNT3"
                     /gene_synonym="GalNAc-T3; HFTC; HFTC1; HHS"
                     /inference="alignment:Splign:2.1.0"
     exon            1533..1733
                     /gene="GALNT3"
                     /gene_synonym="GalNAc-T3; HFTC; HFTC1; HHS"
                     /inference="alignment:Splign:2.1.0"
     exon            1734..1865
                     /gene="GALNT3"
                     /gene_synonym="GalNAc-T3; HFTC; HFTC1; HHS"
                     /inference="alignment:Splign:2.1.0"
     exon            1866..1967
                     /gene="GALNT3"
                     /gene_synonym="GalNAc-T3; HFTC; HFTC1; HHS"
                     /inference="alignment:Splign:2.1.0"
     exon            1968..2120
                     /gene="GALNT3"
                     /gene_synonym="GalNAc-T3; HFTC; HFTC1; HHS"
                     /inference="alignment:Splign:2.1.0"
     exon            2121..3436
                     /gene="GALNT3"
                     /gene_synonym="GalNAc-T3; HFTC; HFTC1; HHS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3195..3200
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALNT3"
                     /gene_synonym="GalNAc-T3; HFTC; HFTC1; HHS"
                     /note="hexamer: AATAAA"
     polyA_site      3221
                     /gene="GALNT3"
                     /gene_synonym="GalNAc-T3; HFTC; HFTC1; HHS"
                     /note="major polyA site"
     regulatory      3414..3419
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALNT3"
                     /gene_synonym="GalNAc-T3; HFTC; HFTC1; HHS"
                     /note="hexamer: GATAAA"
     polyA_site      3436
                     /gene="GALNT3"
                     /gene_synonym="GalNAc-T3; HFTC; HFTC1; HHS"
ORIGIN      
        1 agctcacctg ggagactcca agtggaagcc gagcctcggt tctgcctctc caggcaacgc
       61 gggaggccca gcgggaaggc aggaggcggc ggcggaggag gagctctact gagccgcaac
      121 tgtggcgaca gcaaccggag tcgcagccgc cgccacctgc acctggcgcc tagcccacgt
      181 ccagcgcctg cccggccgcc gcttcccgcc accctgccct gcccacccgc caggtactac
      241 cattaaagat accttcttct cagcaaatct atgataaaaa atataagtaa cagaagaaga
      301 aataactgtt atttgtcaag tgacaagctt ttaatgtcag aatggctcac ctaaagcgac
      361 tagtaaaatt acacattaaa agacattacc ataaaaagtt ctggaagctt ggtgcagtaa
      421 tttttttctt tataatagtt ttggttttaa tgcaaagaga agtaagtgtt caatattcca
      481 aagaggaatc aaggatggaa aggaacatga aaaacaaaaa caagatgttg gatttaatgc
      541 tagaagctgt aaacaatatt aaggatgcca tgccaaaaat gcaaatagga gcacctgtca
      601 ggcaaaacat tgatgctggt gagagacctt gtttgcaagg atattataca gcagcagaat
      661 tgaagcctgt ccttgaccgt ccacctcagg attcaaatgc acctggtgct tctggtaaag
      721 cattcaagac aaccaattta agtgttgaag agcaaaagga aaaggaacgt ggggaagcta
      781 aacactgctt taatgctttc gcaagtgaca ggatttcttt gcaccgagat cttggaccag
      841 acactcgacc tcctgaatgt attgaacaaa aatttaagcg ctgccctccc ctgcccacca
      901 ccagtgtcat aatagttttt cataatgaag cgtggtccac gttgcttaga actgtccaca
      961 gtgtgctcta ttcttcacct gcaatactgc tgaaggaaat cattttggtg gatgatgcta
     1021 gtgtagatga gtacttacat gataaactag atgaatatgt aaaacaattt tctatagtaa
     1081 aaatagtcag acaaagagaa agaaaaggtc tgatcactgc tcggttgcta ggagcaacag
     1141 tcgcaacagc tgaaacgctc acatttttag atgctcactg tgagtgtttc tatggttggc
     1201 tagaacctct gttggccaga atagctgaga actacacggc tgtcgtaagt ccagatattg
     1261 catccataga tctgaacacg tttgaattca acaaaccttc tccttatgga agtaaccata
     1321 accgtggaaa ttttgactgg agtctttcat ttggctggga gtcgcttcct gatcatgaga
     1381 agcaaagaag gaaagatgaa acctacccaa ttaaaacacc cacttttgca ggaggacttt
     1441 tttccatatc aaaagaatat tttgagtata ttggaagcta tgatgaagaa atggaaatct
     1501 ggggaggtga aaatatagaa atgtctttca gagtatggca atgtggtggg cagttggaga
     1561 ttatgccttg ctctgttgtt ggacatgttt ttcgcagcaa aagccctcat agctttccaa
     1621 aaggcactca ggtgattgct agaaaccaag ttcgccttgc agaagtctgg atggatgaat
     1681 acaaggaaat attttatagg agaaatacag atgcagcaaa aattgttaaa caaaaagcat
     1741 ttggtgatct ttcaaaaaga tttgaaataa aacaccgcct tcagtgtaaa aattttacat
     1801 ggtatctgaa caacatttat ccagaggtgt atgtgccaga ccttaatcct gttatatctg
     1861 gatacattaa aagcgttggt cagcctctat gtctggatgt tggagaaaac aatcaaggag
     1921 gcaaaccatt aattatgtat acatgtcatg gacttggggg aaaccagtac tttgaatact
     1981 ctgctcaaca tgaaattcgg cacaacatcc agaaggaatt atgtcttcat gctgctcaag
     2041 gtctcgttca gctgaaggca tgtacctaca aaggtcacaa gacagttgtc actggagagc
     2101 agatatggga gatccagaag gatcaacttc tatacaatcc attcttaaaa atgtgccttt
     2161 cagcaaatgg agagcatcca agtttagtgt catgcaaccc atcagatcca ctccaaaaat
     2221 ggatacttag ccaaaatgat taagtgttcc ttaaaattaa gttgaaaaag gaaatattct
     2281 ttctcataaa actgtgacta ggcatacact gtagtttttg aaaattatgc aaaagcagct
     2341 aaatgtaact tattccaagt gcatttttct tatttatatc tttatgtagc actactacag
     2401 aaattctgca agtttctgtt tcaaagcaca ataactagta ataccaaaga ctatttcaaa
     2461 atgtccagat gtaggggaag agatgtttac agtatgatga aaataatttt ccaagtaaag
     2521 tgatgtttgt gtgttttgta cacttaggga tatatatata tagctacatt cacacactca
     2581 caatttaaaa tatttcccct agttttttgg ggggatagga agaaagattt gttactgtat
     2641 ttttttaact acataaaaat agatcaataa atgtcagcat tggcctctgt gtacaaacca
     2701 agagctttta cagatccaga atttattagt ttaaaatgca ggtgaacttt tttttgcgtt
     2761 tggtttactt gtctgtcaaa tgtttcctta aacatgaaac tgaataagga gaagagtatt
     2821 tttaacactt aaatttcttg gcaaatttta aaacattttt tagtctgtaa tacactccac
     2881 ttgaagcact taagtcttcc ttaaatgact tttcttaagt aatgatactg tgtgttttcc
     2941 caaagcactt ttaaaaaaat ttttataaat tactatctgt tgaaaaggtg tccttttcct
     3001 ttcttctagt atttttttct taccaaaatt cactaatctt gaatgtttgt gatattaaat
     3061 ttcaaatgca gaatacttga ctcatttaaa gctaaatttt gttactgatt caattataat
     3121 tgtaatggat ttttgacttt gtaatggatt cttttcatca aaaagcctta tttttttatc
     3181 tatgtggaaa acacaataaa aaatcctcaa cactattgta atcatttggt taagtttttt
     3241 tcctcttttg ggtaaaatct gtaattgata ataggtgggg gaaaatgaat tttgtatgct
     3301 gaatttctaa gcgcctattg tttgtaaaac catcagatat ttcttatggc acaaaaaatg
     3361 aggaatagca aaattcctgt gttcaatatt tagaaaattt tgtattaatt tctgataaag
     3421 ttccttaagc atctga
//
