LOCUS       NM_022087               2739 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens polypeptide N-acetylgalactosaminyltransferase 11
            (GALNT11), transcript variant 1, mRNA.
ACCESSION   NM_022087
VERSION     NM_022087.4
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 2739)
  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 2739)
  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 2739)
  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 2739)
  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 2739)
  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 2739)
  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 2739)
  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 Nov 23, 2018 this sequence version replaced NM_022087.3.
            
            Transcript Variant: This variant (1), as well as variants 3-8,
            encodes isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.472144.1,
                                           SRR3476690.1053710.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000430044.7/ ENSP00000395122.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-211               AC006017.2         16317-16527
            212-544             AC006017.2         84833-85165
            545-668             AC006017.2         91441-91564
            669-835             AC006017.2         93755-93921
            836-961             AC006017.2         95888-96013
            962-1211            AC006017.2         98681-98930
            1212-1329           AC006017.2         101171-101288
            1330-1482           AC006017.2         103889-104041
            1483-1701           AC006017.2         107800-108018
            1702-1806           AC006017.2         109321-109425
            1807-1944           AC006017.2         111474-111611
            1945-2739           AC006017.2         112189-112983
FEATURES             Location/Qualifiers
     source          1..2739
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.1"
     gene            1..2739
                     /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..544
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /inference="alignment:Splign:2.1.0"
     CDS             250..2076
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /EC_number="2.4.1.41"
                     /note="isoform 1 is encoded by transcript variant 1;
                     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_071370.2"
                     /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            545..668
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /inference="alignment:Splign:2.1.0"
     exon            669..835
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /inference="alignment:Splign:2.1.0"
     exon            836..961
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /inference="alignment:Splign:2.1.0"
     exon            962..1211
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /inference="alignment:Splign:2.1.0"
     exon            1212..1329
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /inference="alignment:Splign:2.1.0"
     exon            1330..1482
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /inference="alignment:Splign:2.1.0"
     exon            1483..1701
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /inference="alignment:Splign:2.1.0"
     exon            1702..1806
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /inference="alignment:Splign:2.1.0"
     exon            1807..1944
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /inference="alignment:Splign:2.1.0"
     exon            1945..2739
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2719..2724
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /note="hexamer: AATAAA"
     polyA_site      2739
                     /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 ggaaattgac aatggccctt cagctatgct
      241 aggtctataa tgggaagtgt cacagttcgg tatttctgtt atgggtgcct ttttacatct
      301 gcgacctgga cagttttgct ttttgtttat ttcaacttca gtgaagtgac tcagccactt
      361 aagaatgtgc ccgtcaaggg gtctgggccc cacggaccat ctccaaaaaa attctatccc
      421 cgtttcactc gaggcccaag tcgagtgctc gagccacagt tcaaagcaaa caaaattgac
      481 gatgtgatag acagtcgtgt tgaagatcca gaagaaggcc acttgaaatt ctcttctgaa
      541 ttaggtatga tttttaatga acgcgatcaa gagttgagag acttgggcta tcagaaacat
      601 gcttttaata tgcttatcag tgaccgcttg ggctaccaca gagatgtgcc agacacaagg
      661 aatgcagcat gtaaagaaaa gttctaccca cctgacctgc cagctgctag tgttgttatc
      721 tgtttctata atgaagcgtt ttctgccttg cttcggacag tgcacagtgt catagaccgc
      781 acgccagcac acctgcttca tgagatcatc cttgtggatg atgatagtga ctttgatgat
      841 ttgaaaggag aactagatga atatgtccaa aaatacctcc ctggaaaaat taaagtcata
      901 agaaatacaa agcgtgaggg gttgattcga gggagaatga ttggcgcggc ccacgcgaca
      961 ggagaagtcc ttgtgttcct ggacagccac tgtgaagtga atgtgatgtg gctgcagccc
     1021 ttgctggccg ccatccgtga ggaccggcac accgtggtgt gcccagtgat tgacatcatc
     1081 agcgccgaca cgctggccta cagctcgtcc cctgtcgtcc gcggagggtt caactgggga
     1141 ctgcacttca aatgggatct tgtccccctt tctgagctag gacgagcgga gggagccact
     1201 gcaccaataa agtcaccaac aatggctgga ggtttgtttg ccatgaacag acagtatttc
     1261 catgaacttg gacagtatga tagtggcatg gatatctggg gaggagaaaa tttggaaata
     1321 tcatttcgga tctggatgtg tggcggtaag ctcttcatca tcccttgctc tagagtagga
     1381 cacattttcc gaaaaaggcg accatatgga tctcccgaag gccaggacac catgacacac
     1441 aactctttgc ggctggcaca tgtctggttg gatgaataca aggagcagta tttttcctta
     1501 agacctgacc tgaagacgaa aagctatggc aatatcagtg agcgtgtgga actgagaaag
     1561 aagttgggct gtaaatcatt taaatggtat ttggataatg tatacccaga gatgcagata
     1621 tctgggtccc acgccaaacc ccaacaaccc atttttgtca atagagggcc aaaacgaccc
     1681 aaagtccttc aacgtggaag gctctatcac ctccagacca acaaatgcct ggtggcccag
     1741 ggccgcccaa gtcagaaggg aggtctcgtg gtgcttaagg cctgtgacta cagtgaccca
     1801 aatcagatct ggatctataa tgaagagcat gaattggttt taaatagtct cctttgtcta
     1861 gatatgtcag agactcgctc atcagacccg ccacggctca tgaaatgcca cgggtcagga
     1921 ggatcccagc agtggacctt tgggaaaaac aatcggctat accaggtgtc ggttggacag
     1981 tgcctgagag cagtggatcc cctgggtcag aagggctctg tcgccatggc gatctgcgat
     2041 ggctcctctt cacagcagtg gcatttggaa ggttaaggtg gatgctgtgg tgggaacgtt
     2101 gcttcatcag gcgttgcctc cggtgtggag tttggggctt taggaaagcc tgggttgggt
     2161 ggagcagaac catcttggag aagatgacag ttccctgtcc tcccggagat gcctgggtgt
     2221 gttagcagag gtgacacgtg tctgacagag acgggagctc tgagtgtcca cgggtgaaga
     2281 agtgagtgtc cacgggtgaa gaagtgagta tgtttcacct ggacattaag gtgatgtttg
     2341 agctgctgtt aaggaatttc ttgcttatag aggcaaacca cagtatcatt ttaactctag
     2401 aattgggctt gtacagaagg ataaaaccca ggaaaatgga tatttctatt cagatttatt
     2461 tatgcctctt tttaatcccc tttaatgatg cagtggtttt tatctgatca ggaacttgtc
     2521 atgatttcct ttcttagact tcataggaga tagtgcttta aaaaaaaaaa aaacttctat
     2581 tatttgttta gtatgttgta agtagatcat tttaaaaaac tgaatctata ttatgtttaa
     2641 cttcagaagg catcatttat aagacagtat ggcagttaat tataaaatta ttttgatgaa
     2701 ttatgataca atctacataa taaagaatcc ttttgatta
//
