LOCUS       NM_052917               5657 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens polypeptide N-acetylgalactosaminyltransferase 13
            (GALNT13), transcript variant 1, mRNA.
ACCESSION   NM_052917 XM_054951
VERSION     NM_052917.4
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 5657)
  AUTHORS   Thibord,F., Chan,M.V., Chen,M.H. and Johnson,A.D.
  TITLE     A year of COVID-19 GWAS results from the GRASP portal reveals
            potential genetic risk factors
  JOURNAL   HGG Adv 3 (2), 100095 (2022)
   PUBMED   35224516
REFERENCE   2  (bases 1 to 5657)
  AUTHORS   Shelton,J.F., Shastri,A.J., Ye,C., Weldon,C.H.,
            Filshtein-Sonmez,T., Coker,D., Symons,A., Esparza-Gordillo,J.,
            Aslibekyan,S. and Auton,A.
  CONSRTM   23andMe COVID-19 Team
  TITLE     Trans-ancestry analysis reveals genetic and nongenetic associations
            with COVID-19 susceptibility and severity
  JOURNAL   Nat Genet 53 (6), 801-808 (2021)
   PUBMED   33888907
REFERENCE   3  (bases 1 to 5657)
  AUTHORS   Festari,M.F., Trajtenberg,F., Berois,N., Pantano,S., Revoredo,L.,
            Kong,Y., Solari-Saquieres,P., Narimatsu,Y., Freire,T., Bay,S.,
            Robello,C., Benard,J., Gerken,T.A., Clausen,H. and Osinaga,E.
  TITLE     Revisiting the human polypeptide GalNAc-T1 and T13 paralogs
  JOURNAL   Glycobiology 27 (2), 140-153 (2017)
   PUBMED   27913570
  REMARK    GeneRIF: the GalNAc-T13 isoform is predicted to function similarly
            to GalNAc-T1 against peptide substrates in vivo, in contrast to a
            prior report, but is unique by being selectively expressed in the
            brain.
REFERENCE   4  (bases 1 to 5657)
  AUTHORS   Nogimori,K., Hori,T., Kawaguchi,K., Fukui,T., Mii,S., Nakada,H.,
            Matsumoto,Y., Yamauchi,Y., Takahashi,M., Furukawa,K., Tetsuya,O.,
            Yokoi,K., Hasegawa,Y. and Furukawa,K.
  TITLE     Increased expression levels of ppGalNAc-T13 in lung cancers:
            Significance in the prognostic diagnosis
  JOURNAL   Int J Oncol 49 (4), 1369-1376 (2016)
   PUBMED   27499036
  REMARK    GeneRIF: Study showed that GALNT13 mRNA is highly expressed in lung
            cancer patients and associated with poor prognosis.
            Erratum:[Int J Oncol. 2017 Feb;50(2):746. doi:
            10.3892/ijo.2016.3796.. PMID: 27959390]
REFERENCE   5  (bases 1 to 5657)
  AUTHORS   Vaiana,C.A., Kurcon,T. and Mahal,L.K.
  TITLE     MicroRNA-424 Predicts a Role for beta-1,4 Branched Glycosylation in
            Cell Cycle Progression
  JOURNAL   J Biol Chem 291 (3), 1529-1537 (2016)
   PUBMED   26589799
  REMARK    GeneRIF: Data suggest microRNA-424 regulates expression of MGAT4A
            (mannoside beta-1,4-N-acetylglucosaminyltransferase A), OGT
            (O-linked N-acetylglucosamine transferase), and GALNT13
            (polypeptide N-acetylgalactosaminyltransferase 13) in mammary
            epithelium.
REFERENCE   6  (bases 1 to 5657)
  AUTHORS   Aouizerat,B.E., Vittinghoff,E., Musone,S.L., Pawlikowska,L.,
            Kwok,P.Y., Olgin,J.E. and Tseng,Z.H.
  TITLE     GWAS for discovery and replication of genetic loci associated with
            sudden cardiac arrest in patients with coronary artery disease
  JOURNAL   BMC Cardiovasc Disord 11, 29 (2011)
   PUBMED   21658281
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 5657)
  AUTHORS   Ng,D., Hu,N., Hu,Y., Wang,C., Giffen,C., Tang,Z.Z., Han,X.Y.,
            Yang,H.H., Lee,M.P., Goldstein,A.M. and Taylor,P.R.
  TITLE     Replication of a genome-wide case-control study of esophageal
            squamous cell carcinoma
  JOURNAL   Int J Cancer 123 (7), 1610-1615 (2008)
   PUBMED   18649358
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 5657)
  AUTHORS   Lunetta,K.L., D'Agostino,R.B. Sr., Karasik,D., Benjamin,E.J.,
            Guo,C.Y., Govindaraju,R., Kiel,D.P., Kelly-Hayes,M., Massaro,J.M.,
            Pencina,M.J., Seshadri,S. and Murabito,J.M.
  TITLE     Genetic correlates of longevity and selected age-related
            phenotypes: a genome-wide association study in the Framingham Study
  JOURNAL   BMC Med Genet 8 Suppl 1 (Suppl 1), S13 (2007)
   PUBMED   17903295
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 5657)
  AUTHORS   Lehner,B. and Sanderson,C.M.
  TITLE     A protein interaction framework for human mRNA degradation
  JOURNAL   Genome Res 14 (7), 1315-1323 (2004)
   PUBMED   15231747
REFERENCE   10 (bases 1 to 5657)
  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
  REMARK    GeneRIF: cloning and characterization of pp-GalNAc-T13; expressed
            in all neuroblastoma cells examined and primary cultured neurons
            but not in glioblastoma cells and primary cultured astrocytes
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC092584.2, AC133107.2, AC008166.2, AC009297.4 and AC009227.3.
            
            On Nov 23, 2018 this sequence version replaced NM_052917.3.
            
            Summary: The GALNT13 protein is a member of the
            UDP-N-acetyl-alpha-D-galactosamine:polypeptide
            N-acetylgalactosaminyltransferase (GalNAcT; EC 2.4.1.41) family,
            which initiate O-linked glycosylation of mucins (see MUC3A, MIM
            158371) by the initial transfer of N-acetylgalactosamine (GalNAc)
            with an alpha-linkage to a serine or threonine residue.[supplied by
            OMIM, Apr 2004].
            
            Transcript Variant: This variant (1), as well as variants 3-8,
            encodes isoform 1.
            
            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 :: AK131195.1, SRR1660803.161010.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related    :: locus in the vicinity of
                                      disease-associated variant(s)
            MANE Ensembl match     :: ENST00000392825.8/ ENSP00000376570.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-382               AC092584.2         142880-143261
            383-454             AC133107.2         14859-14930
            455-700             AC133107.2         58317-58562
            701-869             AC008166.2         85616-85784
            870-1036            AC009297.4         10518-10684
            1037-1244           AC009297.4         11186-11393
            1245-1415           AC009297.4         14300-14470
            1416-1533           AC009297.4         27509-27626
            1534-1714           AC009297.4         69897-70077
            1715-1854           AC009227.3         72933-73072
            1855-1953           AC009227.3         85926-86024
            1954-2088           AC009227.3         115534-115668
            2089-5657           AC009227.3         127353-130921
FEATURES             Location/Qualifiers
     source          1..5657
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q23.3"
     gene            1..5657
                     /gene="GALNT13"
                     /note="polypeptide N-acetylgalactosaminyltransferase 13"
                     /db_xref="GeneID:114805"
                     /db_xref="HGNC:HGNC:23242"
                     /db_xref="MIM:608369"
     exon            1..382
                     /gene="GALNT13"
                     /inference="alignment:Splign:2.1.0"
     exon            383..454
                     /gene="GALNT13"
                     /inference="alignment:Splign:2.1.0"
     exon            455..700
                     /gene="GALNT13"
                     /inference="alignment:Splign:2.1.0"
     CDS             559..2229
                     /gene="GALNT13"
                     /EC_number="2.4.1.41"
                     /note="isoform 1 is encoded by transcript variant 1;
                     galNAc-T13; pp-GaNTase 13; polypeptide GalNAc transferase
                     13; protein-UDP acetylgalactosaminyltransferase 13;
                     UDP-N-acetyl-alpha-D-galactosamine:polypeptide
                     N-acetylgalactosaminyltransferase 13 (GalNAc-T13);
                     UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase
                     13"
                     /codon_start=1
                     /product="polypeptide N-acetylgalactosaminyltransferase 13
                     isoform 1"
                     /protein_id="NP_443149.2"
                     /db_xref="CCDS:CCDS2199.1"
                     /db_xref="GeneID:114805"
                     /db_xref="HGNC:HGNC:23242"
                     /db_xref="MIM:608369"
                     /translation="MRRFVYCKVVLATSLMWVLVDVFLLLYFSECNKCDDKKERSLLP
                     ALRAVISRNQEGPGEMGKAVLIPKDDQEKMKELFKINQFNLMASDLIALNRSLPDVRL
                     EGCKTKVYPDELPNTSVVIVFHNEAWSTLLRTVYSVINRSPHYLLSEVILVDDASERD
                     FLKLTLENYVKNLEVPVKIIRMEERSGLIRARLRGAAASKGQVITFLDAHCECTLGWL
                     EPLLARIKEDRKTVVCPIIDVISDDTFEYMAGSDMTYGGFNWKLNFRWYPVPQREMDR
                     RKGDRTLPVRTPTMAGGLFSIDRNYFEEIGTYDAGMDIWGGENLEMSFRIWQCGGSLE
                     IVTCSHVGHVFRKATPYTFPGGTGHVINKNNRRLAEVWMDEFKDFFYIISPGVVKVDY
                     GDVSVRKTLRENLKCKPFSWYLENIYPDSQIPRRYYSLGEIRNVETNQCLDNMGRKEN
                     EKVGIFNCHGMGGNQVFSYTADKEIRTDDLCLDVSRLNGPVIMLKCHHMRGNQLWEYD
                     AERLTLRHVNSNQCLDEPSEEDKMVPTMQDCSGSRSQQWLLRNMTLGT"
     exon            701..869
                     /gene="GALNT13"
                     /inference="alignment:Splign:2.1.0"
     exon            870..1036
                     /gene="GALNT13"
                     /inference="alignment:Splign:2.1.0"
     exon            1037..1244
                     /gene="GALNT13"
                     /inference="alignment:Splign:2.1.0"
     exon            1245..1415
                     /gene="GALNT13"
                     /inference="alignment:Splign:2.1.0"
     exon            1416..1533
                     /gene="GALNT13"
                     /inference="alignment:Splign:2.1.0"
     exon            1534..1714
                     /gene="GALNT13"
                     /inference="alignment:Splign:2.1.0"
     exon            1715..1854
                     /gene="GALNT13"
                     /inference="alignment:Splign:2.1.0"
     exon            1855..1953
                     /gene="GALNT13"
                     /inference="alignment:Splign:2.1.0"
     exon            1954..2088
                     /gene="GALNT13"
                     /inference="alignment:Splign:2.1.0"
     exon            2089..5657
                     /gene="GALNT13"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2450..2455
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALNT13"
                     /note="hexamer: ATTAAA"
     polyA_site      2479
                     /gene="GALNT13"
                     /note="major polyA site"
     regulatory      5491..5496
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALNT13"
                     /note="hexamer: AATAAA"
     regulatory      5501..5506
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALNT13"
                     /note="hexamer: AATATA"
     polyA_site      5517
                     /gene="GALNT13"
                     /note="major polyA site"
     polyA_site      5527
                     /gene="GALNT13"
                     /note="major polyA site"
     regulatory      5636..5641
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALNT13"
                     /note="hexamer: ATTAAA"
     polyA_site      5657
                     /gene="GALNT13"
ORIGIN      
        1 gaccaggcgg cggcggctct gctgaggtga caacgtgcta gcagccctcg ctcgctctgg
       61 gcgcctcctc ggcctcagcg tccgctctgg ccgcgctcga ggagcccttc agcccgccgc
      121 tgcgctatga aggcccctct ctggggctgg ccgaggctgg agccggctcc ctctgctcgc
      181 gggcaagtgt gaagagagag gcgcgggcgg gagccggggc tgcgcgcggc gctcgcgggc
      241 cggcgcgggt tccaggtgag cgcggactcg gcgagccccg cactcggcgc ggccggccgg
      301 cgcctgctgg gcttgatctg aggctgaatc ccgtgtgtgg accgccgttc cctcttcgcg
      361 ggatcgttgg ccaggatagc agatgcattt ttgtagaagc attttgagga tgaatgtttg
      421 caaatcattt tgaaattgcc aagtgccaca tacatggaat gtatcctgct ttcatcttgg
      481 agttcacctg tgtggcttgg atttatcaca gtagcatttg tcttcaatct gtgtgttaac
      541 tagaaatcaa ggaaagacat gaggagattt gtctactgca aggtggttct agccacttcg
      601 ctgatgtggg ttcttgttga tgtcttctta ctgctgtact tcagtgaatg taacaaatgt
      661 gatgacaaga aggagagatc tctgctgcct gcattgaggg ctgttatttc aagaaaccaa
      721 gaagggccag gagaaatggg aaaagctgtg ttgattccta aagatgacca ggagaaaatg
      781 aaagagctgt ttaaaatcaa tcagtttaac cttatggcca gtgatttgat tgcccttaat
      841 agaagtctgc cagatgtaag attagaagga tgtaagacaa aagtctaccc tgatgaactt
      901 ccaaacacaa gtgtagtcat tgtgtttcat aatgaagctt ggagcactct ccttagaact
      961 gtttacagtg tgataaatcg ttccccacac tatctactct cagaggtcat cttggtagat
     1021 gatgccagtg aaagagattt tctcaagttg acattagaga attacgtgaa aaatttagaa
     1081 gtgccagtaa aaattattag gatggaagaa cgctctgggt taatacgtgc ccgtcttcga
     1141 ggagcagctg cttcaaaagg gcaggtcata acttttcttg atgcacactg tgaatgcacg
     1201 ttaggatggc tggagccttt gctggcaaga ataaaggaag acaggaaaac ggttgtctgc
     1261 cctatcattg atgtgattag tgatgatact tttgaatata tggctgggtc agacatgact
     1321 tatgggggtt ttaactggaa actgaatttc cgctggtatc ctgttcccca aagagaaatg
     1381 gacaggagga aaggagacag aacattacct gtcaggaccc ctactatggc tggtggccta
     1441 ttttctattg acagaaacta ctttgaagag ataggaactt acgatgcagg aatggatatc
     1501 tggggtggag agaatcttga aatgtctttt aggatttggc aatgtggagg ctccttggag
     1561 attgttactt gctcccatgt tggtcatgtt tttcggaagg caactccata cacttttcct
     1621 ggtggcactg gtcatgtcat caacaagaac aacaggagac tggcagaagt ttggatggat
     1681 gaatttaaag atttcttcta catcatatcc ccaggtgttg tcaaagtgga ttatggagat
     1741 gtgtcagtca gaaaaacact aagagaaaat ctgaagtgta agcccttttc ttggtaccta
     1801 gaaaacatct atccggactc ccagatccca agacgttatt actcacttgg tgagataaga
     1861 aatgttgaaa ccaatcagtg tttagacaac atgggccgca aggaaaatga aaaagtgggt
     1921 atattcaact gtcatggtat gggaggaaat caggtatttt cttacactgc tgacaaagaa
     1981 atccgaaccg atgacttgtg cttggatgtt tctagactca atggacctgt aatcatgtta
     2041 aaatgccacc atatgagagg aaatcagtta tgggaatatg atgctgagag actcacgttg
     2101 cgacatgtta acagtaacca atgtctcgat gaaccttctg aagaagacaa aatggtgcct
     2161 acaatgcagg actgtagtgg aagcagatcc caacagtggc tgctaaggaa catgaccttg
     2221 ggcacatgaa gatcatgtcc tccaagccat gaaagtgtct acgcttttgt ttttccatta
     2281 tttcaattgg gggaaaatat taactttgct gaattgaaag ttttaaaaat ccttttagta
     2341 ttctaaaaca caattgtttc taattcgttt ctagaaatgt ttgcttattt ccctactaaa
     2401 atttgtatct gatcaaagca cataagaata taaataatag caaactacta ttaaacaaca
     2461 gaacaacttg taaaacaaat tgtgtttgct ttaagaaaaa tgtttattgc actcatgtca
     2521 tagggttaat tggaggttat tttatttttg gttgtcatgg tgattgaaag agataatgta
     2581 aatgccttat aaaatcttca ttatgaaata ttatcagttg ctttataaac tcactctttt
     2641 tatggatcct tcatggaaac atgtttgatt tctgtgtcta caacagggcc acatattaaa
     2701 ttacttctga atggtgaatt catcttacaa aatgttccaa gttttggaca aggaaaaaca
     2761 ttacattgga tattgaattc atggagcctt tacagaagca tcacatttaa accaatgtga
     2821 attcaaaaaa gagaaggaaa ctttttaaat tcaatttaga gtacataaaa aaagaaatcc
     2881 gcgaagcatt gaggggaaca agatgagtct aatccgcagc acttcgatca ctgtgagaga
     2941 actcaaagtg ggttgcaatc attcctaaca caggctgaaa ctaaacaatc ttgctcctag
     3001 agtttatgtt ggatactcaa ttcttaacca aaatcttggt ctccacaaac tctaccatcc
     3061 cttttctctt cactctatag acagtggcat gccattgatg ctgtacagaa ttgcaggtga
     3121 aagggagaat tttagactta atttttaact ctattgcact taaagatttt agttaggtta
     3181 ccactgtcat tttcattttc tatgttaaag aatacctttc agtgctgtgc tccagtatct
     3241 aaaaatttta tcaccagggg aataaactca atacacattc attaaacttt tgttgtaatt
     3301 aaactgctat atattgtttg ccatatatta tggcccaagg aatatagtta taatcaggct
     3361 acattcacat tttcttttct catcttaaaa ccctttatgt tcaaaataca ttagcagagg
     3421 ccatgaaagt gaaaaaaaat cagatttttg ctagtaagtt tttatatttg acatcatttt
     3481 aaatgctcaa agagttgccc tatatatgca tgttatccat tataaatgca ctcagcagct
     3541 aagagaaatt tgagaggaaa agtggaagaa gtgttttctg gagcagaaga ttccacttct
     3601 ttggtcctca tctttactta aaaagctctt atagaaagga ttaatcattt tgactgcata
     3661 caaactatgt ctctgacatg cacatacact gctttataat gaaaatgagg acactttctg
     3721 atggtcagta aaatcttaaa tgatttttgc cactggtatt ccttcctctt ttgacttttt
     3781 attggtacaa ctgtagggaa gaatctacaa cctggagcat ttcaggtttg ctctttaaat
     3841 atagacaccc ctcaccatga gctctctgtg aatccgtgaa tttcctaaaa ttgtaagcaa
     3901 aatgttgaat atcagggcat ttttttttct gaggtgggag tatgtcactc acagcaaact
     3961 tggaaagaag gctatgactc ccaagaggca gtgaaccatt gccttaaatt aatagcagcc
     4021 tctcaagtcc attgaggcct catgtaaaat tcccattttt catctttaca ctccttttct
     4081 cccctcattt cctcttctcc ttactaaggt aaaaagaccc tgcacagcat tattacttaa
     4141 gttgaaaaag cttcaactct caaggactca tgtataccat atgttccact tattgctttg
     4201 ttagtcaaaa tgcatgttat gtagaaaatg gtcaatggca aatttttata aatacagcta
     4261 ccccatcaaa gctgaacttg aaacgtttta gcagaatttt aaatatgtga aagttcattg
     4321 tggtcatggt gagaaaacta aaactacatg agtttcatgt tagaaaagaa tttttaaaca
     4381 atcttcagat ggcttgaaca cgtgccatta tagtatctaa caaaaagtgg cataaaatat
     4441 tacaaaacat ccaacactag aaagcaatga ctaacattta atttgtttac aaaaatgttt
     4501 attgtcttca gtacaaaaag ttaaaaccat gattggattc ataatgcact tgtcttatcc
     4561 cttatttatg gagctagact gacatatttc aaaccaatct cttctgtggt cttctccatc
     4621 tcagttaatg caacttcaac cttccagatg ctcaggtcaa aaactgaaag ttgcttttga
     4681 ctcctctatt tctgtttcaa ctctcgtcta atccaacagc aaatcccctt gatgctacct
     4741 ttgaaatata actagaaaag aatgacttgc caccatatcc actaggtgtc actacctcta
     4801 acctttttaa tcgcaatatg cttattattt agttccctaa tttcccagtc cttgtcttga
     4861 acaatctttt ctcagtacaa cagccatagt gattctgtta accatgaatt tgattgtgtc
     4921 acttccctgc tcacaatctt ccaatgactt ctccctccgg tggccttcaa ggtcctttat
     4981 gagtgttacc cctctacacg tccacaccac tcaccacaca tacatacaca tgcacacaca
     5041 cacacatgca attctacctt tttctaacac catctcttat ctctcattat tctgcctctt
     5101 acttacccta ttatggctcc caagaaagtt cctgctttag tgttttgttc cctctgcccc
     5161 agagagctcc ccttagtgat ctcagttcaa atattatctt atcagtaaga caaacccttc
     5221 tcccatctgc cttccctatc ccctgtacct gacaatctat gagtttgctt ctttatttct
     5281 gtctatactt ccccctcccc agccccaaac atgcccatca catgccctag aaggtaagtc
     5341 ccatgaaggc aggggctttg tcagttttgt tcatttggta tttctggcat atatattctc
     5401 taaatatttc ttgaattaat gaactgaaaa atgtgtgtta aagttgctaa gtgtaactgt
     5461 atcatacttt ttttgtattt taaattttaa aataaaggct aatatattta gacaggattt
     5521 ccaaaaactt tgtcttcaaa ttttaatttt cttcctaata ttcttcacat taaactatgg
     5581 actctaattt tctggataaa atatcctgcc ttatggaaat gaaatatgaa attttattaa
     5641 aatgctgcta tattaca
//
