LOCUS       NM_001300721            2552 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens LARGE xylosyl- and glucuronyltransferase 2 (LARGE2),
            transcript variant 2, mRNA.
ACCESSION   NM_001300721
VERSION     NM_001300721.2
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 2552)
  AUTHORS   Dietinger,V., Garcia de Durango,C.R., Wiechmann,S., Boos,S.L.,
            Michl,M., Neumann,J., Hermeking,H., Kuster,B. and Jung,P.
  TITLE     Wnt-driven LARGE2 mediates laminin-adhesive O-glycosylation in
            human colonic epithelial cells and colorectal cancer
  JOURNAL   Cell Commun Signal 18 (1), 102 (2020)
   PUBMED   32586342
  REMARK    GeneRIF: Wnt-driven LARGE2 mediates laminin-adhesive
            O-glycosylation in human colonic epithelial cells and colorectal
            cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2552)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   3  (bases 1 to 2552)
  AUTHORS   Miller,M.R., Ma,D., Schappet,J., Breheny,P., Mott,S.L., Bannick,N.,
            Askeland,E., Brown,J. and Henry,M.D.
  TITLE     Downregulation of dystroglycan glycosyltransferases LARGE2 and ISPD
            associate with increased mortality in clear cell renal cell
            carcinoma
  JOURNAL   Mol Cancer 14, 141 (2015)
   PUBMED   26220087
  REMARK    GeneRIF: Reduced levels of GYLTL1B and ISPD mRNA associated with
            increased patient mortality and are the likely cause of alphaDG
            hypoglycosylation in ccRCC.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2552)
  AUTHORS   Huang,Q., Miller,M.R., Schappet,J. and Henry,M.D.
  TITLE     The glycosyltransferase LARGE2 is repressed by Snail and ZEB1 in
            prostate cancer
  JOURNAL   Cancer Biol Ther 16 (1), 125-136 (2015)
   PUBMED   25455932
  REMARK    GeneRIF: LARGE2 is negatively regulated by Snail and/or ZEB1,
            revealing a mechanistic basis for alphaDG hypoglycosylation during
            prostate cancer progression and metastasis.
REFERENCE   5  (bases 1 to 2552)
  AUTHORS   Inamori,K., Willer,T., Hara,Y., Venzke,D., Anderson,M.E.,
            Clarke,N.F., Guicheney,P., Bonnemann,C.G., Moore,S.A. and
            Campbell,K.P.
  TITLE     Endogenous glucuronyltransferase activity of LARGE or LARGE2
            required for functional modification of alpha-dystroglycan in cells
            and tissues
  JOURNAL   J Biol Chem 289 (41), 28138-28148 (2014)
   PUBMED   25138275
REFERENCE   6  (bases 1 to 2552)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   7  (bases 1 to 2552)
  AUTHORS   Grewal,P.K., McLaughlan,J.M., Moore,C.J., Browning,C.A. and
            Hewitt,J.E.
  TITLE     Characterization of the LARGE family of putative
            glycosyltransferases associated with dystroglycanopathies
  JOURNAL   Glycobiology 15 (10), 912-923 (2005)
   PUBMED   15958417
REFERENCE   8  (bases 1 to 2552)
  AUTHORS   Fujimura,K., Sawaki,H., Sakai,T., Hiruma,T., Nakanishi,N., Sato,T.,
            Ohkura,T. and Narimatsu,H.
  TITLE     LARGE2 facilitates the maturation of alpha-dystroglycan more
            effectively than LARGE
  JOURNAL   Biochem Biophys Res Commun 329 (3), 1162-1171 (2005)
   PUBMED   15752776
  REMARK    GeneRIF: LARGE2 was found to support the maturation of
            alpha-dystroglycan more effectively than LARGE.
REFERENCE   9  (bases 1 to 2552)
  AUTHORS   Brockington,M., Torelli,S., Prandini,P., Boito,C., Dolatshad,N.F.,
            Longman,C., Brown,S.C. and Muntoni,F.
  TITLE     Localization and functional analysis of the LARGE family of
            glycosyltransferases: significance for muscular dystrophy
  JOURNAL   Hum Mol Genet 14 (5), 657-665 (2005)
   PUBMED   15661757
REFERENCE   10 (bases 1 to 2552)
  AUTHORS   Wan,D., Gong,Y., Qin,W., Zhang,P., Li,J., Wei,L., Zhou,X., Li,H.,
            Qiu,X., Zhong,F., He,L., Yu,J., Yao,G., Jiang,H., Qian,L., Yu,Y.,
            Shu,H., Chen,X., Xu,H., Guo,M., Pan,Z., Chen,Y., Ge,C., Yang,S. and
            Gu,J.
  TITLE     Large-scale cDNA transfection screening for genes related to cancer
            development and progression
  JOURNAL   Proc Natl Acad Sci U S A 101 (44), 15724-15729 (2004)
   PUBMED   15498874
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 Dec 14:101(50):17565]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC068385.9, DB204404.1 and BC037291.2.
            
            On Nov 23, 2018 this sequence version replaced NM_001300721.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 both encode the same isoform (a).
            
            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 :: BC037291.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000401752.6/ ENSP00000385235.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                AC068385.9         96600-96619
            21-36               DB204404.1         1-16
            37-243              BC037291.2         1-207
            244-244             AC068385.9         96935-96935
            245-1802            BC037291.2         209-1766
            1803-1803           AC068385.9         101927-101927
            1804-2416           BC037291.2         1768-2380
            2417-2417           AC068385.9         102905-102905
            2418-2552           BC037291.2         2382-2516
FEATURES             Location/Qualifiers
     source          1..2552
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..2552
                     /gene="LARGE2"
                     /gene_synonym="GYLTL1B; PP5656"
                     /note="LARGE xylosyl- and glucuronyltransferase 2"
                     /db_xref="GeneID:120071"
                     /db_xref="HGNC:HGNC:16522"
                     /db_xref="MIM:609709"
     exon            1..73
                     /gene="LARGE2"
                     /gene_synonym="GYLTL1B; PP5656"
                     /inference="alignment:Splign:2.1.0"
     exon            74..420
                     /gene="LARGE2"
                     /gene_synonym="GYLTL1B; PP5656"
                     /inference="alignment:Splign:2.1.0"
     CDS             136..2301
                     /gene="LARGE2"
                     /gene_synonym="GYLTL1B; PP5656"
                     /note="isoform a is encoded by transcript variant 2;
                     like-glycosyltransferase 2; ortholog of mouse
                     glycosyltransferase-like 1B; glycosyltransferase-like
                     protein LARGE2; xylosyl- and glucuronyltransferase LARGE2"
                     /codon_start=1
                     /product="xylosyl- and glucuronyltransferase LARGE2
                     isoform a"
                     /protein_id="NP_001287650.1"
                     /db_xref="CCDS:CCDS31473.1"
                     /db_xref="GeneID:120071"
                     /db_xref="HGNC:HGNC:16522"
                     /db_xref="MIM:609709"
                     /translation="MLPRGRPRALGAAALLLLLLLLGFLLFGGDLGCERREPGGRAGA
                     PGCFPGPLMPRVPPDGRLRRAAALDGDPGAGPGDHNRSDCGPQPPPPPKCELLHVAIV
                     CAGHNSSRDVITLVKSMLFYRKNPLHLHLVTDAVARNILETLFHTWMVPAVRVSFYHA
                     DQLKPQVSWIPNKHYSGLYGLMKLVLPSALPAELARVIVLDTDVTFASDISELWALFA
                     HFSDTQAIGLVENQSDWYLGNLWKNHRPWPALGRGFNTGVILLRLDRLRQAGWEQMWR
                     LTARRELLSLPATSLADQDIFNAVIKEHPGLVQRLPCVWNVQLSDHTLAERCYSEASD
                     LKVIHWNSPKKLRVKNKHVEFFRNFYLTFLEYDGNLLRRELFVCPSQPPPGAEQLQQA
                     LAQLDEEDPCFEFRQQQLTVHRVHVTFLPHEPPPPRPHDVTLVAQLSMDRLQMLEALC
                     RHWPGPMSLALYLTDAEAQQFLHFVEASPVLAARQDVAYHVVYREGPLYPVNQLRNVA
                     LAQALTPYVFLSDIDFLPAYSLYDYLRASIEQLGLGSRRKAALVVPAFETLRYRFSFP
                     HSKVELLALLDAGTLYTFRYHEWPRGHAPTDYARWREAQAPYRVQWAANYEPYVVVPR
                     DCPRYDPRFVGFGWNKVAHIVELDAQEYELLVLPEAFTIHLPHAPSLDISRFRSSPTY
                     RDCLQALKDEFHQDLSRHHGAAALKYLPALQQPQSPARG"
     exon            421..503
                     /gene="LARGE2"
                     /gene_synonym="GYLTL1B; PP5656"
                     /inference="alignment:Splign:2.1.0"
     exon            504..627
                     /gene="LARGE2"
                     /gene_synonym="GYLTL1B; PP5656"
                     /inference="alignment:Splign:2.1.0"
     exon            628..799
                     /gene="LARGE2"
                     /gene_synonym="GYLTL1B; PP5656"
                     /inference="alignment:Splign:2.1.0"
     exon            800..904
                     /gene="LARGE2"
                     /gene_synonym="GYLTL1B; PP5656"
                     /inference="alignment:Splign:2.1.0"
     exon            905..1017
                     /gene="LARGE2"
                     /gene_synonym="GYLTL1B; PP5656"
                     /inference="alignment:Splign:2.1.0"
     exon            1018..1143
                     /gene="LARGE2"
                     /gene_synonym="GYLTL1B; PP5656"
                     /inference="alignment:Splign:2.1.0"
     exon            1144..1299
                     /gene="LARGE2"
                     /gene_synonym="GYLTL1B; PP5656"
                     /inference="alignment:Splign:2.1.0"
     exon            1300..1460
                     /gene="LARGE2"
                     /gene_synonym="GYLTL1B; PP5656"
                     /inference="alignment:Splign:2.1.0"
     exon            1461..1739
                     /gene="LARGE2"
                     /gene_synonym="GYLTL1B; PP5656"
                     /inference="alignment:Splign:2.1.0"
     exon            1740..1889
                     /gene="LARGE2"
                     /gene_synonym="GYLTL1B; PP5656"
                     /inference="alignment:Splign:2.1.0"
     exon            1890..2085
                     /gene="LARGE2"
                     /gene_synonym="GYLTL1B; PP5656"
                     /inference="alignment:Splign:2.1.0"
     exon            2086..2552
                     /gene="LARGE2"
                     /gene_synonym="GYLTL1B; PP5656"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2534..2539
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LARGE2"
                     /gene_synonym="GYLTL1B; PP5656"
                     /note="hexamer: ATTAAA"
     polyA_site      2552
                     /gene="LARGE2"
                     /gene_synonym="GYLTL1B; PP5656"
                     /note="major polyA site"
ORIGIN      
        1 gcctctcccc tggttcccgc accctggccg gcggctgcga gcgcagggcc cagcccggga
       61 gccgctggag cagggcctgc gatggagcct gcagccccgg gtcgcgtccc tccctgagcg
      121 cccccgtcgg cggccatgct gccccgaggg cgcccccggg cgctgggggc cgccgcgctg
      181 ttgctgctgc tgctgctgct cggattcctc ctgttcggtg gggacctggg gtgtgagcgc
      241 cgcgagcctg gcgggcgagc gggggccccg ggatgcttcc ccggcccgct catgccacgt
      301 gtccccccag acgggaggct gcggagagcc gccgccctcg acggagaccc gggggccggc
      361 cccggggacc acaaccgctc cgactgcggc ccgcagccgc cgccgccgcc caagtgcgag
      421 ctcttgcatg tggccatcgt gtgtgcgggg cataactcca gccgagacgt catcaccctg
      481 gtgaagtcca tgctcttcta caggaaaaat ccactgcacc tccacttggt gactgacgcc
      541 gtggccagaa acatcctgga gacgctcttc cacacatgga tggtgcctgc tgtccgtgtc
      601 agcttttatc atgccgacca gctcaagccc caggtctcct ggatccccaa caagcactac
      661 tccggcctct atgggctaat gaagctggtg ctgcccagtg ccttgcctgc tgagctggcc
      721 cgcgtcattg tcctggacac ggatgtcacc ttcgcctctg acatctcgga gctctgggcc
      781 ctctttgctc acttttctga cacgcaggcg atcggtcttg tggagaacca gagtgactgg
      841 tacctgggca acctctggaa gaaccacagg ccctggcctg ccttgggccg gggatttaac
      901 acaggtgtga tcctgctgcg gctggaccgg ctccggcagg ctggctggga gcagatgtgg
      961 aggctgacag ccaggcggga gctccttagc ctgcctgcca cctcactggc tgaccaggac
     1021 atcttcaacg ctgtgatcaa ggagcacccg gggctagtgc agcgtctgcc ttgtgtctgg
     1081 aatgtgcagc tgtcagatca cacactggcc gagcgctgct actctgaggc gtctgacctc
     1141 aaggtgatcc actggaactc accaaagaag cttcgggtga agaacaagca tgtggaattc
     1201 ttccgcaatt tctacctgac cttcctggag tacgatggga acctgctgcg gagagagctc
     1261 tttgtgtgcc ccagccagcc cccacctggt gctgagcagt tgcagcaggc cctggcacaa
     1321 ctggacgagg aagacccctg ctttgagttc cggcagcagc agctcactgt gcaccgtgtg
     1381 catgtcactt tcctgcccca tgaaccgcca cccccccggc ctcacgatgt cacccttgtg
     1441 gcccagctgt ccatggaccg gctgcagatg ttggaagccc tgtgcaggca ctggcctggc
     1501 cccatgagcc tggccttgta cctgacagac gcagaagctc agcagttcct gcatttcgtc
     1561 gaggcctcac cagtgcttgc tgcccggcag gacgtggcct accatgtggt gtaccgtgag
     1621 gggcccctat accccgtcaa ccagcttcgc aacgtggcct tggcccaggc cctcacgcct
     1681 tacgtcttcc tcagtgacat tgacttcctg cctgcctatt ctctctacga ctacctcagg
     1741 gcctccattg agcagctggg gctgggcagc cggcgcaagg cagcactggt ggtgccggca
     1801 ttcgagaccc tgcgctaccg cttcagcttc ccccattcca aggtggagct gttggccttg
     1861 ctggatgcgg gcactctcta caccttcagg taccacgagt ggccccgagg ccacgcaccc
     1921 acagactatg cccgctggcg ggaggctcag gccccgtacc gtgtgcaatg ggcggccaac
     1981 tatgaaccct acgtggtggt gccacgagac tgtccccgct atgatcctcg ctttgtgggc
     2041 ttcggctgga acaaagtggc ccacattgtg gagctggatg cccaggaata tgagctcctg
     2101 gtgctgcccg aggccttcac catccatctg ccccacgctc caagcctgga catctcccgc
     2161 ttccgctcca gccccaccta tcgtgactgc ctccaggccc tcaaggacga attccaccag
     2221 gacttgtccc gccaccatgg ggctgctgcc ctcaaatacc tcccagccct gcagcagccc
     2281 cagagccctg cccgaggctg aggctgggcc ggcgctgccc ctcatcttag cattgggcag
     2341 acaccagggc aacctgccct ccgccatccc tgctatttaa attatttaag gtctctggga
     2401 agggctgggg cagagcatct gtggggtggg gtcttcccct tgctgctatt gtatggctgg
     2461 ggactggtct ctctctgccc cagccagttt ggggctggtt cccccatctt gaattgttta
     2521 tccctttttc ataattaaag ttttaaaaca tc
//
