LOCUS       NM_001317391            4742 bp    mRNA    linear   ROD 18-MAR-2025
DEFINITION  Mus musculus LARGE xylosyl- and glucuronyltransferase 1 (Large1),
            transcript variant 1, mRNA.
ACCESSION   NM_001317391 XM_011248317
VERSION     NM_001317391.2
KEYWORDS    RefSeq.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 4742)
  AUTHORS   Hord,J.M., Anderson,M.E., Prouty,S.J., Melton,S., Gastel,Z.,
            Zimmerman,K., Weiss,R.M. and Campbell,K.P.
  TITLE     Matriglycan maintains t-tubule structural integrity in cardiac
            muscle
  JOURNAL   Proc Natl Acad Sci U S A 121 (22), e2402890121 (2024)
   PUBMED   38771868
REFERENCE   2  (bases 1 to 4742)
  AUTHORS   Okuma,H., Hord,J.M., Chandel,I., Venzke,D., Anderson,M.E.,
            Walimbe,A.S., Joseph,S., Gastel,Z., Hara,Y., Saito,F., Matsumura,K.
            and Campbell,K.P.
  TITLE     N-terminal domain on dystroglycan enables LARGE1 to extend
            matriglycan on alpha-dystroglycan and prevents muscular dystrophy
  JOURNAL   Elife 12, e82811 (2023)
   PUBMED   36723429
  REMARK    GeneRIF: N-terminal domain on dystroglycan enables LARGE1 to extend
            matriglycan on alpha-dystroglycan and prevents muscular dystrophy.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4742)
  AUTHORS   Yonekawa,T., Rauckhorst,A.J., El-Hattab,S., Cuellar,M.A.,
            Venzke,D., Anderson,M.E., Okuma,H., Pewa,A.D., Taylor,E.B. and
            Campbell,K.P.
  TITLE     Large1 gene transfer in older myd mice with severe muscular
            dystrophy restores muscle function and greatly improves survival
  JOURNAL   Sci Adv 8 (21), eabn0379 (2022)
   PUBMED   35613260
REFERENCE   4  (bases 1 to 4742)
  AUTHORS   Bedogni,F. and Hevner,R.F.
  TITLE     Cell-Type-Specific Gene Expression in Developing Mouse Neocortex:
            Intermediate Progenitors Implicated in Axon Development
  JOURNAL   Front Mol Neurosci 14, 686034 (2021)
   PUBMED   34321999
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4742)
  AUTHORS   Rios,J.J., Denton,K., Yu,H., Manickam,K., Garner,S., Russell,J.,
            Ludwig,S., Rosenfeld,J.A., Liu,P., Munch,J., Sucato,D.J.,
            Beutler,B. and Wise,C.A.
  TITLE     Saturation mutagenesis defines novel mouse models of severe spine
            deformity
  JOURNAL   Dis Model Mech 14 (6) (2021)
   PUBMED   34142127
REFERENCE   6  (bases 1 to 4742)
  AUTHORS   Mobley,B.A.
  TITLE     Ca2+ capacity and uptake rate in skinned fibers of myodystrophic
            muscle
  JOURNAL   Exp Neurol 87 (1), 137-146 (1985)
   PUBMED   3155690
REFERENCE   7  (bases 1 to 4742)
  AUTHORS   Neymark,M.A., Kopacz,S.J. and Lee,C.P.
  TITLE     Characterization of ATPase in sarcoplasmic reticulum from two
            strains of dystrophic mice
  JOURNAL   Muscle Nerve 3 (4), 316-325 (1980)
   PUBMED   6447833
REFERENCE   8  (bases 1 to 4742)
  AUTHORS   Rayburn,H.B. and Peterson,A.C.
  TITLE     Naked axons in myodystrophic mice
  JOURNAL   Brain Res 146 (2), 380-384 (1978)
   PUBMED   647395
REFERENCE   9  (bases 1 to 4742)
  AUTHORS   Lane,P.W., Beamer,T.C. and Myers,D.D.
  TITLE     Myodystrophy, a new myopathy on chromosome 8 of the mouse
  JOURNAL   J Hered 67 (3), 135-138 (1976)
   PUBMED   939913
REFERENCE   10 (bases 1 to 4742)
  AUTHORS   Bazelon,D.L.
  TITLE     Institutionalization, deinstitutionalization and the adversary
            process
  JOURNAL   Columbia Law Rev 75 (5), 897-912 (1975)
   PUBMED   1235495
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC157365.5, AC158562.8, AC115798.14, AC171678.8 and AC171917.14.
            
            On Nov 15, 2022 this sequence version replaced NM_001317391.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 encode the same protein.
            
            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.
            
            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 :: AK122328.1, SRR14777535.2735979.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1071              AC157365.5         68695-69765
            1072-1164           AC157365.5         81945-82037
            1165-1352           AC158562.8         153050-153237       c
            1353-1654           AC158562.8         70756-71057         c
            1655-1737           AC115798.14        10725-10807
            1738-1861           AC115798.14        28257-28380
            1862-2033           AC115798.14        78745-78916
            2034-2138           AC115798.14        215050-215154
            2139-2251           AC171678.8         149573-149685       c
            2252-2377           AC171678.8         147090-147215       c
            2378-2533           AC171917.14        214141-214296       c
            2534-2697           AC171917.14        207076-207239       c
            2698-2976           AC171917.14        192358-192636       c
            2977-3123           AC171917.14        178644-178790       c
            3124-3319           AC171917.14        173027-173222       c
            3320-4742           AC171917.14        169550-170972       c
FEATURES             Location/Qualifiers
     source          1..4742
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="8"
                     /map="8 35.08 cM"
     gene            1..4742
                     /gene="Large1"
                     /gene_synonym="BPFD#36; enr; fg; froggy; Gyltl1a; Large;
                     Mbp-1; Mbp1; myd"
                     /note="LARGE xylosyl- and glucuronyltransferase 1"
                     /db_xref="GeneID:16795"
                     /db_xref="MGI:MGI:1342270"
     exon            1..1071
                     /gene="Large1"
                     /gene_synonym="BPFD#36; enr; fg; froggy; Gyltl1a; Large;
                     Mbp-1; Mbp1; myd"
                     /inference="alignment:Splign:2.1.0"
     exon            1072..1164
                     /gene="Large1"
                     /gene_synonym="BPFD#36; enr; fg; froggy; Gyltl1a; Large;
                     Mbp-1; Mbp1; myd"
                     /inference="alignment:Splign:2.1.0"
     exon            1165..1352
                     /gene="Large1"
                     /gene_synonym="BPFD#36; enr; fg; froggy; Gyltl1a; Large;
                     Mbp-1; Mbp1; myd"
                     /inference="alignment:Splign:2.1.0"
     CDS             1247..3517
                     /gene="Large1"
                     /gene_synonym="BPFD#36; enr; fg; froggy; Gyltl1a; Large;
                     Mbp-1; Mbp1; myd"
                     /note="isoform 1 is encoded by transcript variant 1;
                     glycosyltransferase-like protein LARGE1;
                     acetylglucosaminyltransferase-like 1A; myodystrophy;
                     like-glycosyltransferase; xylosyl- and
                     glucuronyltransferase LARGE1"
                     /codon_start=1
                     /product="xylosyl- and glucuronyltransferase LARGE1
                     isoform 1"
                     /protein_id="NP_001304320.1"
                     /db_xref="CCDS:CCDS22420.1"
                     /db_xref="GeneID:16795"
                     /db_xref="MGI:MGI:1342270"
                     /translation="MLGICRGRRKFLAASLTLLCIPAITWIYLFAGSFEDGKPVSLSP
                     LESQAHSPRYTASSQRERESLEVRVREVEEENRALRRQLSLAQGQSPAHHRGNHSKTY
                     SMEEGTGDSENLRAGIVAGNSSECGQQPAVEKCETIHVAIVCAGYNASRDVVTLVKSV
                     LFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSG
                     IYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDW
                     YLGNLWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLAD
                     QDIFNAVIKQNPFLVYQLPCFWNVQLSDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNK
                     HVEFFRNLYLTFLEYDGNLLRRELFGCPSETDVNNENLQKQLSELDEDDLCYEFRRER
                     FTVHRTHLYFLHYEFEPSADNTDVTLVAQLSMDRLQMLEAICKHWEGPISLALYLSDA
                     EAQQFLRYAQGSEVLMSRQNVGYHIVYKEGQFYPVNLLRNVAMKHISTPYMFLSDIDF
                     LPMYGLYEYLRKSVIQLDLANTKKAMIVPAFETLRYRLSFPKSKAELLSMLDMGTLFT
                     FRYHVWTKGHAPTNFAKWRTATTPYQVEWEADFEPYVVVRRDCPEYDRRFVGFGWNKV
                     AHIMELDAQEYEFTVLPNAYMIHMPHAPSFDITKFRSNKQYRICLKTLKEEFQQDMSR
                     RYGFAALKYLTAENNS"
     exon            1353..1654
                     /gene="Large1"
                     /gene_synonym="BPFD#36; enr; fg; froggy; Gyltl1a; Large;
                     Mbp-1; Mbp1; myd"
                     /inference="alignment:Splign:2.1.0"
     exon            1655..1737
                     /gene="Large1"
                     /gene_synonym="BPFD#36; enr; fg; froggy; Gyltl1a; Large;
                     Mbp-1; Mbp1; myd"
                     /inference="alignment:Splign:2.1.0"
     exon            1738..1861
                     /gene="Large1"
                     /gene_synonym="BPFD#36; enr; fg; froggy; Gyltl1a; Large;
                     Mbp-1; Mbp1; myd"
                     /inference="alignment:Splign:2.1.0"
     exon            1862..2033
                     /gene="Large1"
                     /gene_synonym="BPFD#36; enr; fg; froggy; Gyltl1a; Large;
                     Mbp-1; Mbp1; myd"
                     /inference="alignment:Splign:2.1.0"
     exon            2034..2138
                     /gene="Large1"
                     /gene_synonym="BPFD#36; enr; fg; froggy; Gyltl1a; Large;
                     Mbp-1; Mbp1; myd"
                     /inference="alignment:Splign:2.1.0"
     exon            2139..2251
                     /gene="Large1"
                     /gene_synonym="BPFD#36; enr; fg; froggy; Gyltl1a; Large;
                     Mbp-1; Mbp1; myd"
                     /inference="alignment:Splign:2.1.0"
     exon            2252..2377
                     /gene="Large1"
                     /gene_synonym="BPFD#36; enr; fg; froggy; Gyltl1a; Large;
                     Mbp-1; Mbp1; myd"
                     /inference="alignment:Splign:2.1.0"
     exon            2378..2533
                     /gene="Large1"
                     /gene_synonym="BPFD#36; enr; fg; froggy; Gyltl1a; Large;
                     Mbp-1; Mbp1; myd"
                     /inference="alignment:Splign:2.1.0"
     exon            2534..2697
                     /gene="Large1"
                     /gene_synonym="BPFD#36; enr; fg; froggy; Gyltl1a; Large;
                     Mbp-1; Mbp1; myd"
                     /inference="alignment:Splign:2.1.0"
     exon            2698..2976
                     /gene="Large1"
                     /gene_synonym="BPFD#36; enr; fg; froggy; Gyltl1a; Large;
                     Mbp-1; Mbp1; myd"
                     /inference="alignment:Splign:2.1.0"
     exon            2977..3123
                     /gene="Large1"
                     /gene_synonym="BPFD#36; enr; fg; froggy; Gyltl1a; Large;
                     Mbp-1; Mbp1; myd"
                     /inference="alignment:Splign:2.1.0"
     exon            3124..3319
                     /gene="Large1"
                     /gene_synonym="BPFD#36; enr; fg; froggy; Gyltl1a; Large;
                     Mbp-1; Mbp1; myd"
                     /inference="alignment:Splign:2.1.0"
     exon            3320..4742
                     /gene="Large1"
                     /gene_synonym="BPFD#36; enr; fg; froggy; Gyltl1a; Large;
                     Mbp-1; Mbp1; myd"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4721..4726
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Large1"
                     /gene_synonym="BPFD#36; enr; fg; froggy; Gyltl1a; Large;
                     Mbp-1; Mbp1; myd"
                     /note="hexamer: AATAAA"
     polyA_site      4742
                     /gene="Large1"
                     /gene_synonym="BPFD#36; enr; fg; froggy; Gyltl1a; Large;
                     Mbp-1; Mbp1; myd"
                     /note="major polyA site"
ORIGIN      
        1 ctcgcccccc agctgcacag acatgacaca gacacacagt cactgcagct gccgaacgag
       61 cccgacgctc taagcacgcg gcggcggctg gactagcctg gagctccaac accagcgccc
      121 gccagcgcgc tcccacgccg gtccccgcac agcgattctc tcccggcccc gcgcgggaag
      181 cggggatcgc gcgcctgtcc gttcgcggct ccaggctgcc cacagcgtct gcagcggacg
      241 agcggctcca aacctgagcg ctccgggaag ccggcgcgtc tccaaggtgg cggcgggggc
      301 tgcccgcccg ggctccccgc acccatcggg ctgcgtcccg ctcgcggcgc cccggcggcc
      361 gtgaccttcc aaggagcatc tatcccggcc ccgcgccccc ggtcccgcgc cccaggcccg
      421 ggcgaggccc tcttcagcgc ccgcttctcg cggagccgcg ggcgggcggc gcaggcccgg
      481 ggggtggggg ggagggtcac cgcaagcagc tacggtcggt cccagtgctc gttcgccacg
      541 ctggtctctc ggtccggctg agctgcctcc agcctcctgc ctcctgcctc gcctcttctc
      601 cgtggctggg gctgccggtg tacttgcctg gccgggccgg ttgcgggcag gccctgccct
      661 gaaggggtta agcggtcagg ggcgcggaag gtgaagccgg cagagctgcg gctccccgtt
      721 tcttcctggc gctggtttcc cggatccaac ccagggcggc ccccaggccc ttgcccatgc
      781 gaggcgccca gggcttggaa gagtccttct ggcgtagagc agctctcggc agccgcctcg
      841 gaggaggaga aagaagggag agtgctcagt cccggcaagg cggacctttc ctattgatat
      901 ttggagccca aggctgtccc gaagtctgtg cttggcaccg tcggtcggtc gggttagaac
      961 agctccagct gggatctcca ccaggaccca ctgcacttag taggcgtcag tggcaccacg
     1021 cggttcagct ctttcggagt gtacctctgc ctggatgtag tcaaggccaa ggtacccaca
     1081 atgggcattg gatcccctgg aactggcagt agtgagccac ctaacgtggg tacaaggagt
     1141 tgatcccaag tcctcttgag agcaaaagta ttatgaggga tgctgaggaa ttcttgctct
     1201 gcacagagac accacattga aattagagat tggcacttct gagaggatgc tgggaatctg
     1261 cagagggaga aggaaattcc tggctgcctc tttgactcta ctctgcatac cagccatcac
     1321 ctggatttac ttgtttgctg ggagctttga agatgggaaa cctgtgtctc tgtctcccct
     1381 ggagtcccaa gcccacagtc cccggtacac agcctccagc caacgggagc gggagagcct
     1441 ggaagtgcgt gttcgagaag ttgaggagga aaaccgtgct ctgcgcaggc agctcagcct
     1501 ggcccagggt cagagccctg ctcaccaccg tgggaaccac tccaagacct actccatgga
     1561 ggaggggaca ggggacagtg agaatctgcg agctggcatt gtggcaggta acagctctga
     1621 gtgtgggcag cagccagctg tggaaaagtg tgagaccatc catgtggcca tcgtctgtgc
     1681 cggatacaat gccagcaggg acgttgtcac cctggtgaaa tctgtcctct ttcataggcg
     1741 gaaccctctg cacttccacc tcattgctga ttctattgct gagcagatcc tggctacact
     1801 cttccagacc tggatggtac ctgcagtgcg agtagacttc tataatgctg atgagctcaa
     1861 gtctgaagtg tcctggattc ccaacaaaca ttactctgga atttatggcc tgatgaagct
     1921 ggttctgacc aaaactctgc ctgccaacct ggagagagtc attgtcctag acaccgacat
     1981 cacctttgca acagacattg cagagctgtg ggccgtgttc cataagttca aagggcaaca
     2041 ggtcctgggc ttggtagaga accagagtga ctggtatctt ggaaatctct ggaaaaacca
     2101 ccgtccatgg ccagctcttg gaaggggcta taacacagga gtcatactac tgcttctgga
     2161 caagcttcgg aagatgaaat gggagcagat gtggagactg acagcagaga gggaactcat
     2221 gggcatgttg tctacatcct tggctgacca ggatattttc aatgctgtta tcaaacaaaa
     2281 cccctttctg gtgtatcagc ttccctgctt ctggaatgtg cagctgtcag accacacccg
     2341 ctctgagcag tgctacagag atgtgtctga tttaaaggtc atccactgga actcccccaa
     2401 gaagctccgt gtgaagaaca aacatgtgga attcttccgc aacctctacc tgaccttctt
     2461 ggagtatgat ggcaacctcc tgcggcggga gctgtttggc tgccccagtg agactgatgt
     2521 caacaatgaa aatcttcaga agcagctgtc tgagctggat gaggatgact tgtgctatga
     2581 gttccggcga gagcgcttca ctgtccacag aacccacctg tacttcctgc actacgagtt
     2641 tgagccttct gctgacaaca cagacgttac ccttgttgct cagctctcca tggacagact
     2701 acagatgctg gaggccatct gtaaacactg ggagggaccc atcagcctgg ccctctacct
     2761 gtcagatgca gaagcccagc agttcctccg ctatgcccag ggatccgagg tgctcatgag
     2821 ccggcagaac gtgggctacc acatcgtgta caaggagggt cagttctatc ctgtcaatct
     2881 tctgcgaaac gtggctatga agcacatcag cacaccctac atgttcttat ctgacattga
     2941 cttcctgcct atgtatgggc tctatgagta cctcaggaaa tctgtcatcc agcttgacct
     3001 tgccaatacc aagaaagcaa tgattgtccc agcatttgaa acgctgcgct acagactctc
     3061 tttccccaag tcaaaagcag agctgctgtc aatgttggac atggggaccc tattcacatt
     3121 caggtatcac gtatggacta aaggccatgc acccacaaac tttgccaagt ggcggactgc
     3181 caccacacct taccaggttg agtgggaggc tgattttgag ccatatgttg ttgtgagacg
     3241 agactgccct gagtatgatc ggagatttgt gggctttggc tggaacaaag tggctcacat
     3301 catggaattg gatgcacagg agtatgagtt caccgtgttg cccaatgcct acatgatcca
     3361 catgccccat gcccctagtt tcgacatcac taagttccgt tccaacaagc aataccgcat
     3421 ctgtctcaaa accctgaagg aagagtttca acaagacatg tcccgacgat atggctttgc
     3481 tgccttgaaa tatctcacag ctgagaacaa cagctagcac tactagggag agccaccact
     3541 agggagagac gtgccacaag ggaagaacca cttcctgctg gggcccagcc tttgaagaca
     3601 aaagccaaca ctgcttttct ttggtttgtt tccctttgtc tctttggccc cacaaagctg
     3661 ctctcttctg aagtcttgga cagagaccca gcccaccatg ggtgcttcca ggatgggaca
     3721 tagaagagtg gaagcaaatg aagagtttaa catcatcaca aagccacaga ccaagtcagg
     3781 gcttctggat attcccattg ctttttaaca gttatgggtc aaaccttagc tgttgagaaa
     3841 gtaagagcaa taaagcttcc tacgatggaa atgtatcctg ccacctagct gggtacccat
     3901 atggacagca acccaaggac ccaaacaaac atctggagac tctcatatgg acattacaca
     3961 tgagggacct gaaggaggga tgaattggtt gtttattctc aaagtcactc ttgttttgtt
     4021 ttgagttgtt tgaatttggg ggattttgtt cattttgatc tagaaatcta agttttttaa
     4081 aaaatctaat ccttaaagct ctgaaagaaa aatcaactcc ctcgatcaac acccctcagc
     4141 agcagtggcc ctgcaagtca agcacccgtg gaggatgttc ctgggtgaac agcttccttc
     4201 atgatgaaca ctgagaccac ctgattccaa gtttccactc tctagatcca gtactatgac
     4261 agggactaca gaaatatgag tccaaacact atatgcaact cacattttct atggaccatc
     4321 accaagccac aaggaaaggg cttcatggaa ctacttcagc actcacagaa ggtatgattc
     4381 ccttcttggg cctatagaag aacttgaaca gttcacagaa gtccaatttg aacacttgta
     4441 tgactacatt gaagccactg gaagaaatgg gtcaggtatc tctgtgttct tccctgcctc
     4501 actgttgaaa gtgagggagc tgatgaactt agtttcccct caggacctgt ccaagtgttg
     4561 gcacgaacct cttcattgtg catatggaag acactggacc cattttcttt actcttcact
     4621 attaatgttg tgtttacatt gatgagaaca agagctaatg gcataccctg tactgggctg
     4681 tttgtattga gttgacatgt gaccagcgaa agctgcattc aataaatgaa gtacagactg
     4741 tt
//
