LOCUS       NM_017417               2321 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens polypeptide N-acetylgalactosaminyltransferase 8
            (GALNT8), mRNA.
ACCESSION   NM_017417
VERSION     NM_017417.2
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 2321)
  AUTHORS   Huang,T., Meng,F., Huang,H., Wang,L., Wang,L., Liu,Y., Liu,Y.,
            Wang,J., Li,W., Zhang,J. and Liu,Y.
  TITLE     GALNT8 suppresses breast cancer cell metastasis potential by
            regulating EGFR O-GalNAcylation
  JOURNAL   Biochem Biophys Res Commun 601, 16-23 (2022)
   PUBMED   35220009
  REMARK    GeneRIF: GALNT8 suppresses breast cancer cell metastasis potential
            by regulating EGFR O-GalNAcylation.
REFERENCE   2  (bases 1 to 2321)
  AUTHORS   Huang,T., Wu,Q., Huang,H., Zhang,C., Wang,L., Wang,L., Liu,Y.,
            Li,W., Zhang,J. and Liu,Y.
  TITLE     Expression of GALNT8 and O-glycosylation of BMP receptor 1A
            suppress breast cancer cell proliferation by upregulating ERalpha
            levels
  JOURNAL   Biochim Biophys Acta Gen Subj 1866 (1), 130046 (2022)
   PUBMED   34743989
  REMARK    GeneRIF: Expression of GALNT8 and O-glycosylation of BMP receptor
            1A suppress breast cancer cell proliferation by upregulating
            ERalpha levels.
REFERENCE   3  (bases 1 to 2321)
  AUTHORS   Chai,P., Jia,R., Jia,R., Pan,H., Wang,S., Ni,H., Wang,H., Zhou,C.,
            Shi,Y., Ge,S., Zhang,H. and Fan,X.
  TITLE     Dynamic chromosomal tuning of a novel GAU1 lncing driver at
            chr12p13.32 accelerates tumorigenesis
  JOURNAL   Nucleic Acids Res 46 (12), 6041-6056 (2018)
   PUBMED   29741668
  REMARK    GeneRIF: Dynamic tuning of chromatin co-drives the activation of a
            gene cluster that includes the lncRNA GAU1 and the protein-coding
            gene GALNT8, thereby inducing tumorigenesis.
REFERENCE   4  (bases 1 to 2321)
  AUTHORS   Hussain,M.R.M., Nasir,J. and Al-Aama,J.Y.
  TITLE     Clinically significant missense variants in human GALNT3, GALNT8,
            GALNT12, and GALNT13 genes: intriguing in silico findings
  JOURNAL   J Cell Biochem 115 (2), 313-327 (2014)
   PUBMED   24038392
  REMARK    GeneRIF: we integrated different computational tools to perform the
            in silico analysis of clinically significant mutations
            (nsSNPs/single amino acid change) at both functional and structural
            levels, found in human GALNT3, GALNT8, GALNT12, and GALNT13 genes.
            Erratum:[J Cell Biochem. 2017 Oct;118(10):3520. doi:
            10.1002/jcb.25675.. PMID: 28792674]
REFERENCE   5  (bases 1 to 2321)
  AUTHORS   Nakano,R., Maekawa,T., Abe,H., Hayashida,Y., Ochi,H., Tsunoda,T.,
            Kumada,H., Kamatani,N., Nakamura,Y. and Chayama,K.
  TITLE     Single-nucleotide polymorphisms in GALNT8 are associated with the
            response to interferon therapy for chronic hepatitis C
  JOURNAL   J Gen Virol 94 (Pt 1), 81-89 (2013)
   PUBMED   23034592
  REMARK    GeneRIF: GALNT8 variants were associated with treatment outcome
            independently of HCV genotype.
REFERENCE   6  (bases 1 to 2321)
  AUTHORS   Flachsbart,F., Franke,A., Kleindorp,R., Caliebe,A., Blanche,H.,
            Schreiber,S. and Nebel,A.
  TITLE     Investigation of genetic susceptibility factors for human longevity
            - a targeted nonsynonymous SNP study
  JOURNAL   Mutat Res 694 (1-2), 13-19 (2010)
   PUBMED   20800603
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2321)
  AUTHORS   Iwasaki,H., Zhang,Y., Tachibana,K., Gotoh,M., Kikuchi,N.,
            Kwon,Y.D., Togayachi,A., Kudo,T., Kubota,T. and Narimatsu,H.
  TITLE     Initiation of O-glycan synthesis in IgA1 hinge region is determined
            by a single enzyme, UDP-N-acetyl-alpha-D-galactosamine:polypeptide
            N-acetylgalactosaminyltransferase 2
  JOURNAL   J Biol Chem 278 (8), 5613-5621 (2003)
   PUBMED   12438318
  REMARK    GeneRIF: This enzyme initiates O-glycan synthesis in IgA1 the hinge
            region.
REFERENCE   8  (bases 1 to 2321)
  AUTHORS   White,K.E., Lorenz,B., Evans,W.E., Meitinger,T., Strom,T.M. and
            Econs,M.J.
  TITLE     Molecular cloning of a novel human UDP-GalNAc:polypeptide
            N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a
            candidate autosomal dominant hypophosphatemic rickets (ADHR) gene
  JOURNAL   Gene 246 (1-2), 347-356 (2000)
   PUBMED   10767557
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005833.1 and AJ271385.1.
            
            On May 17, 2019 this sequence version replaced NM_017417.1.
            
            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. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ271385.1, BC140888.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000252318.7/ ENSP00000252318.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-186               AC005833.1         25502-25687
            187-2321            AJ271385.1         1-2135
FEATURES             Location/Qualifiers
     source          1..2321
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.32"
     gene            1..2321
                     /gene="GALNT8"
                     /gene_synonym="GALNAC-T8"
                     /note="polypeptide N-acetylgalactosaminyltransferase 8"
                     /db_xref="GeneID:26290"
                     /db_xref="HGNC:HGNC:4130"
                     /db_xref="MIM:606250"
     exon            1..489
                     /gene="GALNT8"
                     /gene_synonym="GALNAC-T8"
                     /inference="alignment:Splign:2.1.0"
     CDS             279..2192
                     /gene="GALNT8"
                     /gene_synonym="GALNAC-T8"
                     /EC_number="2.4.1.41"
                     /note="protein-UDP acetylgalactosaminyltransferase 8;
                     UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase
                     8; GalNAc transferase 8; pp-GaNTase 8; polypeptide GalNAc
                     transferase 8;
                     UDP-N-acetyl-alpha-D-galactosamine:polypeptide
                     N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"
                     /codon_start=1
                     /product="probable polypeptide
                     N-acetylgalactosaminyltransferase 8"
                     /protein_id="NP_059113.1"
                     /db_xref="CCDS:CCDS8533.1"
                     /db_xref="GeneID:26290"
                     /db_xref="HGNC:HGNC:4130"
                     /db_xref="MIM:606250"
                     /translation="MMFWRKLPKALFIGLTLAIAVNLLLVFSSKGTLQNLFTGGLHRE
                     LPLHLNKRYGAVIKRLSHLEVELQDLKESMKLALRQQENVNSTLKRAKDEVRPLLKAM
                     ETKVNETKKHKTQMKLFPHSQLFRQWGEDLSEAQQKAAQDLFRKFGYNAYLSNQLPLN
                     RTIPDTRDYRCLRKTYPSQLPSLSVILIFVNEALSIIQRAITSIINRTPSRLLKEIIL
                     VDDFSSNGELKVHLDEKIKLYNQKYPGLLKIIRHPERKGLAQARNTGWEAATADVVAI
                     LDAHIEVNVGWAEPILARIQEDRTVIVSPVFDNIRFDTFKLDKYELAVDGFNWELWCR
                     YDALPQAWIDLHDVTAPVKSPSIMGILAANRHFLGEIGSLDGGMLIYGGENVELSLRV
                     WQCGGKVEILPCSRIAHLERHHKPYALDLTAALKRNALRVAEIWMDEHKHMVYLAWNI
                     PLQNSGIDFGDVSSRMALREKLKCKTFDWYLKNVYPLLKPLHTIVGYGRMKNLLDENV
                     CLDQGPVPGNTPIMYYCHEFSSQNVYYHLTGELYVGQLIAEASASDRCLTDPGKAEKP
                     TLEPCSKAAKNRLHIYWDFKPGGAVINRDTKRCLEMKKDLLGSHVLVLQTCSTQVWEI
                     QHTVRDWGQTNSQ"
     exon            490..787
                     /gene="GALNT8"
                     /gene_synonym="GALNAC-T8"
                     /inference="alignment:Splign:2.1.0"
     exon            788..954
                     /gene="GALNT8"
                     /gene_synonym="GALNAC-T8"
                     /inference="alignment:Splign:2.1.0"
     exon            955..1138
                     /gene="GALNT8"
                     /gene_synonym="GALNAC-T8"
                     /inference="alignment:Splign:2.1.0"
     exon            1139..1336
                     /gene="GALNT8"
                     /gene_synonym="GALNAC-T8"
                     /inference="alignment:Splign:2.1.0"
     exon            1337..1451
                     /gene="GALNT8"
                     /gene_synonym="GALNAC-T8"
                     /inference="alignment:Splign:2.1.0"
     exon            1452..1637
                     /gene="GALNT8"
                     /gene_synonym="GALNAC-T8"
                     /inference="alignment:Splign:2.1.0"
     exon            1638..1775
                     /gene="GALNT8"
                     /gene_synonym="GALNAC-T8"
                     /inference="alignment:Splign:2.1.0"
     exon            1776..1871
                     /gene="GALNT8"
                     /gene_synonym="GALNAC-T8"
                     /inference="alignment:Splign:2.1.0"
     exon            1872..2039
                     /gene="GALNT8"
                     /gene_synonym="GALNAC-T8"
                     /inference="alignment:Splign:2.1.0"
     exon            2040..2321
                     /gene="GALNT8"
                     /gene_synonym="GALNAC-T8"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gttatctccc tgagcaacct gtggaaagcc gctgagcaac ctgtggaaag ccgctgagcg
       61 gttatcctct cggggcataa agacaaagaa ggcaataagg agactttgct cctcagaggc
      121 cacccgtggc ttcccatggg tgtctcacac aggggagacc aactcaactg gcacctagaa
      181 ctctctttcc cacaaaagct aggctggttc tgattcttaa cctgctccag cagtgacaca
      241 ctcagtccca cagggagtgg acgaccccca ggaagaagat gatgttttgg aggaaactcc
      301 ccaaagccct cttcattggg ctgactctgg ccattgctgt caatctcctt ctggtatttt
      361 ctagcaaggg gactttacaa aacctgttta cgggtggtct ccacagggag cttcctttac
      421 atctgaataa acgctacggg gcagtgataa agagactctc ccacttggag gtggaattgc
      481 aggatctgaa agaaagtatg aaattagctc tgaggcaaca agaaaatgtg aacagcacac
      541 tgaagagggc gaaagatgaa gtacgccctc ttctaaaggc aatggaaacc aaggtgaatg
      601 agacaaagaa gcacaaaacc caaatgaaac tcttcccaca ctcacagctt ttcaggcaat
      661 ggggcgagga tctttctgag gcccagcaga aggcggccca ggacctcttc cggaagtttg
      721 gttacaacgc gtacctcagc aaccagctgc ctctcaatcg caccatcccc gacacgcgag
      781 actacagatg tcttcggaag acatatcctt cccaactccc atccctcagt gtcattctca
      841 tattcgtgaa tgaagctctg tccattatac aacgggccat caccagtatc atcaaccgga
      901 cgccctctcg attgttgaag gaaatcatct tggtggatga tttcagctca aatggagaac
      961 taaaggtaca cttggatgag aagattaagc tttacaacca gaagtatcca ggactactga
     1021 aaataatacg gcatcctgaa aggaaaggtc ttgctcaagc ccgcaacact ggctgggaag
     1081 ctgccacagc agacgtggtc gccatcttgg atgctcacat tgaagtcaat gttgggtggg
     1141 cagagccaat cttggctcgg attcaggagg accgcactgt gattgtgtct cctgtgtttg
     1201 acaacattcg ttttgacacc ttcaaactgg ataagtatga actggcagtt gatgggttta
     1261 actgggaact ctggtgccgc tacgatgcac tgccacaagc ctggattgat ctgcatgatg
     1321 tcactgcccc agtgaagagt ccttcaatca tgggcatcct ggctgctaac aggcacttcc
     1381 tgggagagat cgggtctctg gatggtggaa tgctcatcta tggaggagag aacgtggagc
     1441 ttagcctgag ggtgtggcag tgtggaggga aggtcgagat tttgccctgt tcccggattg
     1501 cccacctaga gagacaccac aagccctacg ccttggatct caccgctgcc ttgaagcgca
     1561 atgctctgcg agtggccgaa atctggatgg atgagcacaa acacatggtc tacttggcct
     1621 ggaacatacc tctccagaac tctggaatag attttggaga cgtttcttcc agaatggcac
     1681 tccgggaaaa actgaaatgt aaaacttttg actggtacct gaaaaatgtt tatccactct
     1741 tgaagccact ccacaccatc gtgggctatg gaagaatgaa aaacctattg gatgaaaatg
     1801 tctgcttgga tcagggaccc gttccaggca acacccccat catgtattac tgccatgaat
     1861 tcagctcaca gaatgtctac tatcacctaa ctggggagct ctatgtggga caactgattg
     1921 cagaggccag tgctagtgat cgctgcctga cagaccctgg caaggcggag aagcccacct
     1981 tagaaccatg ctccaaggca gctaagaata gactgcatat atattgggat tttaaaccgg
     2041 gaggagctgt cataaacaga gataccaagc ggtgtctgga gatgaagaag gatcttttgg
     2101 gtagccacgt gcttgtgctc cagacctgta gcacgcaagt gtgggaaatc cagcacactg
     2161 tcagagactg gggtcagacc aacagccagt gatcctcaga tggtgctgga tctgggtcat
     2221 caattcttgc aagtggaatg gcttctactc ctaacactcc cagcttcttt ctcaatgaga
     2281 aagaaagcat gtgtatgtct gtttatggcg acttcaggtg g
//
