LOCUS       NM_001371462            2861 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens polypeptide N-acetylgalactosaminyltransferase 11
            (GALNT11), transcript variant 7, mRNA.
ACCESSION   NM_001371462 XM_006716082
VERSION     NM_001371462.1
KEYWORDS    RefSeq.
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 2861)
  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   2  (bases 1 to 2861)
  AUTHORS   Gorski,M., Tin,A., Garnaas,M., McMahon,G.M., Chu,A.Y., Tayo,B.O.,
            Pattaro,C., Teumer,A., Chasman,D.I., Chalmers,J., Hamet,P.,
            Tremblay,J., Woodward,M., Aspelund,T., Eiriksdottir,G.,
            Gudnason,V., Harris,T.B., Launer,L.J., Smith,A.V., Mitchell,B.D.,
            O'Connell,J.R., Shuldiner,A.R., Coresh,J., Li,M., Freudenberger,P.,
            Hofer,E., Schmidt,H., Schmidt,R., Holliday,E.G., Mitchell,P.,
            Wang,J.J., de Boer,I.H., Li,G., Siscovick,D.S., Kutalik,Z.,
            Corre,T., Vollenweider,P., Waeber,G., Gupta,J., Kanetsky,P.A.,
            Hwang,S.J., Olden,M., Yang,Q., de Andrade,M., Atkinson,E.J.,
            Kardia,S.L., Turner,S.T., Stafford,J.M., Ding,J., Liu,Y.,
            Barlassina,C., Cusi,D., Salvi,E., Staessen,J.A., Ridker,P.M.,
            Grallert,H., Meisinger,C., Muller-Nurasyid,M., Kramer,B.K.,
            Kramer,H., Rosas,S.E., Nolte,I.M., Penninx,B.W., Snieder,H.,
            Fabiola Del Greco,M., Franke,A., Nothlings,U., Lieb,W.,
            Bakker,S.J., Gansevoort,R.T., van der Harst,P., Dehghan,A.,
            Franco,O.H., Hofman,A., Rivadeneira,F., Sedaghat,S.,
            Uitterlinden,A.G., Coassin,S., Haun,M., Kollerits,B.,
            Kronenberg,F., Paulweber,B., Aumann,N., Endlich,K., Pietzner,M.,
            Volker,U., Rettig,R., Chouraki,V., Helmer,C., Lambert,J.C.,
            Metzger,M., Stengel,B., Lehtimaki,T., Lyytikainen,L.P.,
            Raitakari,O., Johnson,A., Parsa,A., Bochud,M., Heid,I.M.,
            Goessling,W., Kottgen,A., Kao,W.H., Fox,C.S. and Boger,C.A.
  TITLE     Genome-wide association study of kidney function decline in
            individuals of European descent
  JOURNAL   Kidney Int 87 (5), 1017-1029 (2015)
   PUBMED   25493955
  REMARK    GeneRIF: possible role in the deterioration of kidney function
            [meta-analysis]
REFERENCE   3  (bases 1 to 2861)
  AUTHORS   Libisch,M.G., Casas,M., Chiribao,M., Moreno,P., Cayota,A.,
            Osinaga,E., Oppezzo,P. and Robello,C.
  TITLE     GALNT11 as a new molecular marker in chronic lymphocytic leukemia
  JOURNAL   Gene 533 (1), 270-279 (2014)
   PUBMED   24076351
  REMARK    GeneRIF: evidence suggests that CLL patient samples harbor aberrant
            O-glycosylation highlighted by Tn antigen expression and that the
            over-expression of GALNT11 constitutes a new molecular marker for
            CLL
REFERENCE   4  (bases 1 to 2861)
  AUTHORS   Boskovski,M.T., Yuan,S., Pedersen,N.B., Goth,C.K., Makova,S.,
            Clausen,H., Brueckner,M. and Khokha,M.K.
  TITLE     The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia
            type and laterality
  JOURNAL   Nature 504 (7480), 456-459 (2013)
   PUBMED   24226769
REFERENCE   5  (bases 1 to 2861)
  AUTHORS   Yuasa,I., Umetsu,K., Matsusue,A., Nishimukai,H., Harihara,S.,
            Fukumori,Y., Saitou,N., Jin,F., Chattopadhyay,P.K., Henke,L. and
            Henke,J.
  TITLE     A Japanese-specific allele in the GALNT11 gene
  JOURNAL   Leg Med (Tokyo) 12 (4), 208-211 (2010)
   PUBMED   20547088
  REMARK    GeneRIF: Single nucleiotide polymorphism in the GALNT11 genes were
            investigated to assess allele frequencies in different populations.
            This SNP would be useful marker for forensic individualization, in
            particular, as ancestry-informative markers.
            GeneRIF: Observational study of genotype prevalence. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 2861)
  AUTHORS   Bennett,E.P., Chen,Y.W., Schwientek,T., Mandel,U., Schjoldager,Kt.,
            Cohen,S.M. and Clausen,H.
  TITLE     Rescue of Drosophila Melanogaster l(2)35Aa lethality is only
            mediated by polypeptide GalNAc-transferase pgant35A, but not by the
            evolutionary conserved human ortholog GalNAc-transferase-T11
  JOURNAL   Glycoconj J 27 (4), 435-444 (2010)
   PUBMED   20422447
  REMARK    GeneRIF: GALNT11, the human ortholog to Drosophila melanogaster
            pgant35A, was shown not to support rescue of the l(2)35Aa lethality
            during Drosophila embryogenesis.
REFERENCE   7  (bases 1 to 2861)
  AUTHORS   Schwientek,T., Bennett,E.P., Flores,C., Thacker,J., Hollmann,M.,
            Reis,C.A., Behrens,J., Mandel,U., Keck,B., Schafer,M.A.,
            Haselmann,K., Zubarev,R., Roepstorff,P., Burchell,J.M.,
            Taylor-Papadimitriou,J., Hollingsworth,M.A. and Clausen,H.
  TITLE     Functional conservation of subfamilies of putative
            UDP-N-acetylgalactosamine:polypeptide
            N-acetylgalactosaminyltransferases in Drosophila, Caenorhabditis
            elegans, and mammals. One subfamily composed of l(2)35Aa is
            essential in Drosophila
  JOURNAL   J Biol Chem 277 (25), 22623-22638 (2002)
   PUBMED   11925450
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC006017.2.
            
            On Jul 12, 2019 this sequence version replaced XM_006716082.3.
            
            Transcript Variant: This variant (7), as well as variants 1, 3-6,
            and 8, encodes isoform 1.
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.1165303.1,
                                           SRR14038195.867841.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-211               AC006017.2         16317-16527
            212-333             AC006017.2         69930-70051
            334-666             AC006017.2         84833-85165
            667-790             AC006017.2         91441-91564
            791-957             AC006017.2         93755-93921
            958-1083            AC006017.2         95888-96013
            1084-1333           AC006017.2         98681-98930
            1334-1451           AC006017.2         101171-101288
            1452-1604           AC006017.2         103889-104041
            1605-1823           AC006017.2         107800-108018
            1824-1928           AC006017.2         109321-109425
            1929-2066           AC006017.2         111474-111611
            2067-2861           AC006017.2         112189-112983
FEATURES             Location/Qualifiers
     source          1..2861
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.1"
     gene            1..2861
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /note="polypeptide N-acetylgalactosaminyltransferase 11"
                     /db_xref="GeneID:63917"
                     /db_xref="HGNC:HGNC:19875"
                     /db_xref="MIM:615130"
     exon            1..211
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /inference="alignment:Splign:2.1.0"
     exon            212..333
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /inference="alignment:Splign:2.1.0"
     exon            334..666
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /inference="alignment:Splign:2.1.0"
     CDS             372..2198
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /EC_number="2.4.1.41"
                     /note="isoform 1 is encoded by transcript variant 7;
                     pp-GaNTase 11; polypeptide GalNAc transferase 11;
                     protein-UDP acetylgalactosaminyltransferase 11;
                     UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase
                     11; UDP-N-acetyl-alpha-D-galactosamine:polypeptide
                     N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"
                     /codon_start=1
                     /product="polypeptide N-acetylgalactosaminyltransferase 11
                     isoform 1"
                     /protein_id="NP_001358391.1"
                     /db_xref="CCDS:CCDS5930.1"
                     /db_xref="GeneID:63917"
                     /db_xref="HGNC:HGNC:19875"
                     /db_xref="MIM:615130"
                     /translation="MGSVTVRYFCYGCLFTSATWTVLLFVYFNFSEVTQPLKNVPVKG
                     SGPHGPSPKKFYPRFTRGPSRVLEPQFKANKIDDVIDSRVEDPEEGHLKFSSELGMIF
                     NERDQELRDLGYQKHAFNMLISDRLGYHRDVPDTRNAACKEKFYPPDLPAASVVICFY
                     NEAFSALLRTVHSVIDRTPAHLLHEIILVDDDSDFDDLKGELDEYVQKYLPGKIKVIR
                     NTKREGLIRGRMIGAAHATGEVLVFLDSHCEVNVMWLQPLLAAIREDRHTVVCPVIDI
                     ISADTLAYSSSPVVRGGFNWGLHFKWDLVPLSELGRAEGATAPIKSPTMAGGLFAMNR
                     QYFHELGQYDSGMDIWGGENLEISFRIWMCGGKLFIIPCSRVGHIFRKRRPYGSPEGQ
                     DTMTHNSLRLAHVWLDEYKEQYFSLRPDLKTKSYGNISERVELRKKLGCKSFKWYLDN
                     VYPEMQISGSHAKPQQPIFVNRGPKRPKVLQRGRLYHLQTNKCLVAQGRPSQKGGLVV
                     LKACDYSDPNQIWIYNEEHELVLNSLLCLDMSETRSSDPPRLMKCHGSGGSQQWTFGK
                     NNRLYQVSVGQCLRAVDPLGQKGSVAMAICDGSSSQQWHLEG"
     exon            667..790
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /inference="alignment:Splign:2.1.0"
     exon            791..957
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /inference="alignment:Splign:2.1.0"
     exon            958..1083
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /inference="alignment:Splign:2.1.0"
     exon            1084..1333
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /inference="alignment:Splign:2.1.0"
     exon            1334..1451
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /inference="alignment:Splign:2.1.0"
     exon            1452..1604
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /inference="alignment:Splign:2.1.0"
     exon            1605..1823
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /inference="alignment:Splign:2.1.0"
     exon            1824..1928
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /inference="alignment:Splign:2.1.0"
     exon            1929..2066
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /inference="alignment:Splign:2.1.0"
     exon            2067..2861
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2841..2846
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /note="hexamer: AATAAA"
     polyA_site      2861
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /note="major polyA site"
ORIGIN      
        1 gcggaggcag cggctcgggg actgggcgag ggccctgggc ctgaggaggc gcggccgcca
       61 ctgcgcccag cgcctgcgcg acgcctggct gctgggcccc ggggcagttc agcccgcgcc
      121 gctcctgcgg gtcggactgg ggctgtggcg ggagagaaga tgccgcagcc cgagtcccag
      181 aaggcggcga tcctgggctg cgggcaaggc ggtctatagt gagcgagagc tgctactttt
      241 tacttgggca ttcattcaaa gtgttgaaga ataacagcct ctaccatccc ttattcactg
      301 gctcatcagc tgtcccaggt tttgctcttc taggaaattg acaatggccc ttcagctatg
      361 ctaggtctat aatgggaagt gtcacagttc ggtatttctg ttatgggtgc ctttttacat
      421 ctgcgacctg gacagttttg ctttttgttt atttcaactt cagtgaagtg actcagccac
      481 ttaagaatgt gcccgtcaag gggtctgggc cccacggacc atctccaaaa aaattctatc
      541 cccgtttcac tcgaggccca agtcgagtgc tcgagccaca gttcaaagca aacaaaattg
      601 acgatgtgat agacagtcgt gttgaagatc cagaagaagg ccacttgaaa ttctcttctg
      661 aattaggtat gatttttaat gaacgcgatc aagagttgag agacttgggc tatcagaaac
      721 atgcttttaa tatgcttatc agtgaccgct tgggctacca cagagatgtg ccagacacaa
      781 ggaatgcagc atgtaaagaa aagttctacc cacctgacct gccagctgct agtgttgtta
      841 tctgtttcta taatgaagcg ttttctgcct tgcttcggac agtgcacagt gtcatagacc
      901 gcacgccagc acacctgctt catgagatca tccttgtgga tgatgatagt gactttgatg
      961 atttgaaagg agaactagat gaatatgtcc aaaaatacct ccctggaaaa attaaagtca
     1021 taagaaatac aaagcgtgag gggttgattc gagggagaat gattggcgcg gcccacgcga
     1081 caggagaagt ccttgtgttc ctggacagcc actgtgaagt gaatgtgatg tggctgcagc
     1141 ccttgctggc cgccatccgt gaggaccggc acaccgtggt gtgcccagtg attgacatca
     1201 tcagcgccga cacgctggcc tacagctcgt cccctgtcgt ccgcggaggg ttcaactggg
     1261 gactgcactt caaatgggat cttgtccccc tttctgagct aggacgagcg gagggagcca
     1321 ctgcaccaat aaagtcacca acaatggctg gaggtttgtt tgccatgaac agacagtatt
     1381 tccatgaact tggacagtat gatagtggca tggatatctg gggaggagaa aatttggaaa
     1441 tatcatttcg gatctggatg tgtggcggta agctcttcat catcccttgc tctagagtag
     1501 gacacatttt ccgaaaaagg cgaccatatg gatctcccga aggccaggac accatgacac
     1561 acaactcttt gcggctggca catgtctggt tggatgaata caaggagcag tatttttcct
     1621 taagacctga cctgaagacg aaaagctatg gcaatatcag tgagcgtgtg gaactgagaa
     1681 agaagttggg ctgtaaatca tttaaatggt atttggataa tgtataccca gagatgcaga
     1741 tatctgggtc ccacgccaaa ccccaacaac ccatttttgt caatagaggg ccaaaacgac
     1801 ccaaagtcct tcaacgtgga aggctctatc acctccagac caacaaatgc ctggtggccc
     1861 agggccgccc aagtcagaag ggaggtctcg tggtgcttaa ggcctgtgac tacagtgacc
     1921 caaatcagat ctggatctat aatgaagagc atgaattggt tttaaatagt ctcctttgtc
     1981 tagatatgtc agagactcgc tcatcagacc cgccacggct catgaaatgc cacgggtcag
     2041 gaggatccca gcagtggacc tttgggaaaa acaatcggct ataccaggtg tcggttggac
     2101 agtgcctgag agcagtggat cccctgggtc agaagggctc tgtcgccatg gcgatctgcg
     2161 atggctcctc ttcacagcag tggcatttgg aaggttaagg tggatgctgt ggtgggaacg
     2221 ttgcttcatc aggcgttgcc tccggtgtgg agtttggggc tttaggaaag cctgggttgg
     2281 gtggagcaga accatcttgg agaagatgac agttccctgt cctcccggag atgcctgggt
     2341 gtgttagcag aggtgacacg tgtctgacag agacgggagc tctgagtgtc cacgggtgaa
     2401 gaagtgagtg tccacgggtg aagaagtgag tatgtttcac ctggacatta aggtgatgtt
     2461 tgagctgctg ttaaggaatt tcttgcttat agaggcaaac cacagtatca ttttaactct
     2521 agaattgggc ttgtacagaa ggataaaacc caggaaaatg gatatttcta ttcagattta
     2581 tttatgcctc tttttaatcc cctttaatga tgcagtggtt tttatctgat caggaacttg
     2641 tcatgatttc ctttcttaga cttcatagga gatagtgctt taaaaaaaaa aaaaacttct
     2701 attatttgtt tagtatgttg taagtagatc attttaaaaa actgaatcta tattatgttt
     2761 aacttcagaa ggcatcattt ataagacagt atggcagtta attataaaat tattttgatg
     2821 aattatgata caatctacat aataaagaat ccttttgatt a
//
