LOCUS       NM_139309               5924 bp    mRNA    linear   ROD 05-JUN-2024
DEFINITION  Mus musculus fukutin (Fktn), transcript variant 1, mRNA.
ACCESSION   NM_139309
VERSION     NM_139309.5
KEYWORDS    RefSeq; RefSeq Select.
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 5924)
  AUTHORS   Choquet,H., Melles,R.B., Anand,D., Yin,J., Cuellar-Partida,G.,
            Wang,W., Hoffmann,T.J., Nair,K.S., Hysi,P.G., Lachke,S.A. and
            Jorgenson,E.
  CONSRTM   23andMe Research Team
  TITLE     A large multiethnic GWAS meta-analysis of cataract identifies new
            risk loci and sex-specific effects
  JOURNAL   Nat Commun 12 (1), 3595 (2021)
   PUBMED   34127677
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5924)
  AUTHORS   Southern,W.M., Nichenko,A.S., Qualls,A.E., Portman,K., Gidon,A.,
            Beedle,A.M. and Call,J.A.
  TITLE     Mitochondrial dysfunction in skeletal muscle of fukutin-deficient
            mice is resistant to exercise- and 5-aminoimidazole-4-carboxamide
            ribonucleotide-induced rescue
  JOURNAL   Exp Physiol 105 (10), 1767-1777 (2020)
   PUBMED   32833332
  REMARK    GeneRIF: Mitochondrial dysfunction in skeletal muscle of
            fukutin-deficient mice is resistant to exercise- and
            5-aminoimidazole-4-carboxamide ribonucleotide-induced rescue.
REFERENCE   3  (bases 1 to 5924)
  AUTHORS   Ueda,Y., Kimura-Yoshida,C., Mochida,K., Tsume,M., Kameo,Y.,
            Adachi,T., Lefebvre,O., Hiramatsu,R. and Matsuo,I.
  TITLE     Intrauterine Pressures Adjusted by Reichert's Membrane Are Crucial
            for Early Mouse Morphogenesis
  JOURNAL   Cell Rep 31 (7), 107637 (2020)
   PUBMED   32433954
REFERENCE   4  (bases 1 to 5924)
  AUTHORS   Ujihara,Y., Kanagawa,M., Mohri,S., Takatsu,S., Kobayashi,K.,
            Toda,T., Naruse,K. and Katanosaka,Y.
  TITLE     Elimination of fukutin reveals cellular and molecular
            pathomechanisms in muscular dystrophy-associated heart failure
  JOURNAL   Nat Commun 10 (1), 5754 (2019)
   PUBMED   31848331
  REMARK    GeneRIF: Study shows molecular pathogenesis of muscular
            dystrophy-associated cardiomyopathy in mice lacking the Fktn gene.
            Although cardiac Fktn elimination markedly reduced
            alpha-dystroglycan glycosylation and dystrophin-glycoprotein
            complex proteins in sarcolemma at all developmental stages, cardiac
            dysfunction was observed only in later adulthood, suggesting that
            membrane fragility is not the sole etiology of cardiac dysfunc...
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5924)
  AUTHORS   Sudo,A., Kanagawa,M., Kondo,M., Ito,C., Kobayashi,K., Endo,M.,
            Minami,Y., Aiba,A. and Toda,T.
  TITLE     Temporal requirement of dystroglycan glycosylation during brain
            development and rescue of severe cortical dysplasia via gene
            delivery in the fetal stage
  JOURNAL   Hum Mol Genet 27 (7), 1174-1185 (2018)
   PUBMED   29360985
REFERENCE   6  (bases 1 to 5924)
  AUTHORS   Takeda,S., Kondo,M., Sasaki,J., Kurahashi,H., Kano,H., Arai,K.,
            Misaki,K., Fukui,T., Kobayashi,K., Tachikawa,M., Imamura,M.,
            Nakamura,Y., Shimizu,T., Murakami,T., Sunada,Y., Fujikado,T.,
            Matsumura,K., Terashima,T. and Toda,T.
  TITLE     Fukutin is required for maintenance of muscle integrity, cortical
            histiogenesis and normal eye development
  JOURNAL   Hum Mol Genet 12 (12), 1449-1459 (2003)
   PUBMED   12783852
REFERENCE   7  (bases 1 to 5924)
  AUTHORS   Henion,T.R., Qu,Q. and Smith,F.I.
  TITLE     Expression of dystroglycan, fukutin and POMGnT1 during mouse
            cerebellar development
  JOURNAL   Brain Res Mol Brain Res 112 (1-2), 177-181 (2003)
   PUBMED   12670716
  REMARK    Erratum:[Brain Res Mol Brain Res. 2003 Jun 10;114(2):177]
REFERENCE   8  (bases 1 to 5924)
  AUTHORS   Triki,C., Louhichi,N., Meziou,M., Choyakh,F., Kechaou,M.S.,
            Jlidi,R., Mhiri,C., Fakhfakh,F. and Ayadi,H.
  TITLE     Merosin-deficient congenital muscular dystrophy with mental
            retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB
            and CMD1B loci, in three Tunisian patients
  JOURNAL   Neuromuscul Disord 13 (1), 4-12 (2003)
   PUBMED   12467726
  REMARK    GeneRIF: Merosin-deficient congenital muscular dystrophy with
            mental retardation and cerebellar cysts, unlinked to the FCMD
            locus, in three Tunisian patients
REFERENCE   9  (bases 1 to 5924)
  AUTHORS   Esapa,C.T., Benson,M.A., Schroder,J.E., Martin-Rendon,E.,
            Brockington,M., Brown,S.C., Muntoni,F., Kroger,S. and Blake,D.J.
  TITLE     Functional requirements for fukutin-related protein in the Golgi
            apparatus
  JOURNAL   Hum Mol Genet 11 (26), 3319-3331 (2002)
   PUBMED   12471058
REFERENCE   10 (bases 1 to 5924)
  AUTHORS   Horie,M., Kobayashi,K., Takeda,S., Nakamura,Y., Lyons,G.E. and
            Toda,T.
  TITLE     Isolation and characterization of the mouse ortholog of the
            Fukuyama-type congenital muscular dystrophy gene
  JOURNAL   Genomics 80 (5), 482-486 (2002)
   PUBMED   12408965
  REMARK    GeneRIF: Fukuyama-type congenital muscular dystrophy (FCMD) murine
            ortholog, Fcmd is 90% identical to that of its human counterpart
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL807745.7 and AL844585.11.
            
            On May 9, 2018 this sequence version replaced NM_139309.4.
            
            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 :: AB077383.1, AK085931.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849380
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-42                AL807745.7         176652-176693
            43-245              AL807745.7         182505-182707
            246-305             AL807745.7         192478-192537
            306-509             AL807745.7         193630-193833
            510-787             AL807745.7         197348-197625
            788-920             AL807745.7         200025-200157
            921-1050            AL807745.7         207117-207246
            1051-1184           AL807745.7         209507-209640
            1185-1312           AL807745.7         210867-210994
            1313-5924           AL844585.11        6981-11592
FEATURES             Location/Qualifiers
     source          1..5924
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="4"
                     /map="4 28.74 cM"
     gene            1..5924
                     /gene="Fktn"
                     /gene_synonym="D830030O17Rik; Fcmd"
                     /note="fukutin"
                     /db_xref="GeneID:246179"
                     /db_xref="MGI:MGI:2179507"
     exon            1..42
                     /gene="Fktn"
                     /gene_synonym="D830030O17Rik; Fcmd"
                     /inference="alignment:Splign:2.1.0"
     exon            43..245
                     /gene="Fktn"
                     /gene_synonym="D830030O17Rik; Fcmd"
                     /inference="alignment:Splign:2.1.0"
     CDS             141..1526
                     /gene="Fktn"
                     /gene_synonym="D830030O17Rik; Fcmd"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Fukuyama type congenital muscular dystrophy (fukutin);
                     Fukuyama type congenital muscular dystrophy homolog;
                     ribitol-5-phosphate transferase; fukuyama-type congenital
                     muscular dystrophy protein; ribitol-5-phosphate
                     transferase FKTN"
                     /codon_start=1
                     /product="ribitol-5-phosphate transferase FKTN isoform 1"
                     /protein_id="NP_647470.1"
                     /db_xref="CCDS:CCDS18191.1"
                     /db_xref="GeneID:246179"
                     /db_xref="MGI:MGI:2179507"
                     /translation="MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSARNGPGSSKSK
                     GNRVGFDSTQWRAVKKFIMLTSSQNVPVFLIDPWILESINKNFEQVKNASQGPASECR
                     FFCVPRDFTAFALQYHLWKNEDGWFRIAENMGFQCLKTESKDPRLDGIDSLSGTEIPL
                     HYVCKLTTHAIHLVVFHERSGNYLWHGHLRLKGHMDRKFVPFRKLQFGRYPGAFDRPE
                     LQQVTVDGLDMLIPKDPGRFLEEVPHSRFIECRYKEARAFLQQYIDDNTVDAMVFRKR
                     AKELLQLAAKTLKDLGVPFWLSSGTCLGWYRQCGIIPYSKDVDLGIFIQDYKPDIILA
                     FQEAGLPLKHKFGKVEDSLELSFQGKNDVKLDIFFFYEEADHLWNGGTQARTGKKFKY
                     LFPKFTLCWTEFVDIKVHVPCETVDYIEANYGKTWKIPIKTWDWKSSPPNVQPNGIWP
                     ISEWDEVIQLY"
     exon            246..305
                     /gene="Fktn"
                     /gene_synonym="D830030O17Rik; Fcmd"
                     /inference="alignment:Splign:2.1.0"
     exon            306..509
                     /gene="Fktn"
                     /gene_synonym="D830030O17Rik; Fcmd"
                     /inference="alignment:Splign:2.1.0"
     exon            510..787
                     /gene="Fktn"
                     /gene_synonym="D830030O17Rik; Fcmd"
                     /inference="alignment:Splign:2.1.0"
     exon            788..920
                     /gene="Fktn"
                     /gene_synonym="D830030O17Rik; Fcmd"
                     /inference="alignment:Splign:2.1.0"
     exon            921..1050
                     /gene="Fktn"
                     /gene_synonym="D830030O17Rik; Fcmd"
                     /inference="alignment:Splign:2.1.0"
     exon            1051..1184
                     /gene="Fktn"
                     /gene_synonym="D830030O17Rik; Fcmd"
                     /inference="alignment:Splign:2.1.0"
     exon            1185..1312
                     /gene="Fktn"
                     /gene_synonym="D830030O17Rik; Fcmd"
                     /inference="alignment:Splign:2.1.0"
     exon            1313..5924
                     /gene="Fktn"
                     /gene_synonym="D830030O17Rik; Fcmd"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5902..5907
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Fktn"
                     /gene_synonym="D830030O17Rik; Fcmd"
                     /note="hexamer: AATAAA"
     polyA_site      5922
                     /gene="Fktn"
                     /gene_synonym="D830030O17Rik; Fcmd"
                     /note="major polyA site"
ORIGIN      
        1 agttgccgta aagcgaggcc tccgccgcag ctctagagtt agaagtatct ctggtcacag
       61 gaaacaagat tctgtttcat gaagaagatg aaaacaactg ggctactgtt aaaaaccacc
      121 caagagaaca ccatagacca atgagtagaa tcaataagaa cgtggtcttg gcccttttaa
      181 cattgacgag ttctgccttt ctgctgtttc agctgtacta ctacaagcac tatttgtctg
      241 caaggaatgg accgggttca tcaaaatcca aagggaatcg agttggattt gatagcacac
      301 agtggcgtgc agttaagaaa tttattatgc tgacatccag ccaaaatgtg ccagtgttcc
      361 ttattgaccc atggattctg gaatcaatta ataaaaactt cgaacaagtg aaaaatgctt
      421 ctcaaggccc ggcttcagaa tgcagatttt tctgtgttcc gagagacttc actgcgttcg
      481 cactgcagta tcacctgtgg aagaatgagg atggctggtt tcggatagct gagaatatgg
      541 ggtttcaatg cctaaagact gaaagcaagg atcctcggct agatggaata gactcacttt
      601 ctgggactga aatccctctg cactacgtct gtaagctgac cactcatgcc atccacttgg
      661 tagtctttca tgagaggagt ggcaactacc tctggcatgg tcacctacga ctcaaaggac
      721 acatggatag gaagtttgtt ccttttcgaa agttacagtt tggtcgttat cctggagcct
      781 ttgacaggcc agagttacag caagttactg ttgatggact agatatgctt attccgaaag
      841 acccagggcg ctttctagaa gaagtacctc actccagatt tatcgagtgc aggtataagg
      901 aagctcgggc gttcctccag cagtacattg atgataatac tgtggatgct atggtctttc
      961 gaaagagggc aaaggagtta ctgcaactag cagccaagac gctgaaggac ctgggagtgc
     1021 ccttctggct gagcagtggg acttgtctag gatggtatcg gcagtgcggt attattcctt
     1081 acagcaaaga tgtcgactta gggattttta tacaagatta caaacctgat attattttgg
     1141 catttcagga agcaggactt ccactcaaac acaagtttgg gaaggtggaa gacagcttgg
     1201 aactatcctt ccaggggaaa aatgatgtaa aacttgatat ttttttcttc tatgaagagg
     1261 ctgaccatct gtggaatgga ggcacgcagg ccagaacggg aaaaaagttt aagtatctgt
     1321 ttcccaagtt tacactgtgc tggactgagt ttgtagacat caaagtgcat gttccctgtg
     1381 aaacggttga ctacattgaa gccaactatg gtaagacctg gaagattcct atcaagacat
     1441 gggactggaa gagctcaccc ccgaatgtgc agcccaatgg catctggcct atttcggagt
     1501 gggatgaggt tatccagttg tactgagaaa actaagctca ggtggcacat ttcccagaaa
     1561 gaaggcgggt aactgtttaa agcactactg gttttttgcc tgatgtgaga gccaaagaag
     1621 agaaatgaca agttagaaga cagaaaaggt tttctgattc atgggccatc taattagttc
     1681 tgccattcag catttcctga ggagttgatg caccaggtgg aatacgagga gctggtgaat
     1741 gagcgaatgc cagcctctct tgtcctgttg gtaagcacta cagttttctt ttgaaagaaa
     1801 cttactcacc ctctgaagag ctggtacacg atatgatgta ttccatcata atttttaaaa
     1861 tgttaattaa tctttatgct ggaaagtgag ctcatcggat gaagcttaca aaggatatgt
     1921 tagttaagaa taattcactc ctgcctgtcc tcaggatttt tagtgctgct tttaaggttg
     1981 tagaacatga gttaatattc cagtgagtga ttagactttg tctcacagag aaaagatggt
     2041 agcaaactca ttttataagc agtgtggtac acagttggct tcaagcacag ggggttctat
     2101 aagggaagat gagagcccat atcagctatt gtcaagacat acactgttct catatctgaa
     2161 gtggacagtg ggtgcttaga tgatgcttga atgcctgaca tcataggata ttttccctga
     2221 cctgcagtgg tacttgctga taaatcatcc agtcatgcta tccgaaaggt gtgacatccc
     2281 aaagcttact ttccttattt cattttcaat cattcttaga tttaaaaatg gaagttattc
     2341 atgaatattt ttatatttta tgaatgtata actcttctgc ccttaatttt aatattcaca
     2401 ctaaatacta atagacatac ctctgaattt ttaaaaaaat actctttatt tatttatcaa
     2461 ccatagctcc atgtttaatt tatggcctac ataataattt atttagcata aagatatgac
     2521 tgttcttcta ttccaatatt acttcaagtt tccaaaatgg aaggttaaca tgaacctgga
     2581 aactattcct ttttccagat cactgtcttt aaagcctgtg tccatctcta gatttttcat
     2641 tctgctgtgt gtaagagggc aaggacttcc tactgccaag tactgcacat gtgggacccc
     2701 ttgattttct ttttcttctc aaaatacacc catgagtagg ttggggtagc tgtgcactct
     2761 cagtgagaga tgacacagtg aatgcctgtc ttcctggcct ggaaggggag gggctctgct
     2821 ccctgctgct tagggatgtg cttcagggcc gccctgcaga tctcccttgg aatgtgtagt
     2881 cactaaaacg aacaagagta gctgagggaa tgggctggca gaaagtaaaa gaaggaaaga
     2941 aaaagaaaaa cttggagccg ggtttaatcc cagcactcag gaggcagagg caggcagatt
     3001 tctgagttca aggccagcct ggtctacaaa gtgagttcca ggacagccag agctatacag
     3061 agaaaccctt tctcgaaaaa acaacaacaa caacaacaaa aaaaaaaaaa aacccaaaaa
     3121 acccccaaaa caacaacaaa aaaatgaagg aagtaactta aagccagcta cttccaaatt
     3181 ttaatttcaa catgaaaact gtctttgttg tatgacaagc agcagtctgt taggatgcag
     3241 cctctctgta ggaatattgt ctctccatat gcatctcatc agattgctgt aattattagc
     3301 aaacttgtac ccaaataaca gatcataatc agttctttcc tagaaaataa gtccatagaa
     3361 tatgtatcca agttttagat agccaaccct atatattttt atgcacctag aaacaaaaca
     3421 aaacaaaaca aaaatcaaaa acaaaacaaa cccagtaaca acaaccagat aacagtgtcc
     3481 ttgaggacaa agccacccta tctggagagg gtcatttgct tgtactcaat atcaaggagt
     3541 aggcgtgttt acatcacgtt ccttgagagc tcccaccttc tgccaggaga tcttacccac
     3601 ccctgctcca ggttcttctc tcacgtctat cattggaggg caaggtctgc tagtgtccag
     3661 aatacaaact ctcttggtcc tgtgcagagg ttctgcagtc ttccctccat agacgatggg
     3721 caaacttgtc ttcaccctgg tttagcttta gcttttaggt tctgccccac cttggagaaa
     3781 gtttcccaga atttgcaggt gaggtttacg tctgaaaata cctccatgat tcagtcatac
     3841 tgaagccagt gctcttgacc ttggagctct gatgagtggc ccaagacctt gggtcggggg
     3901 tgcccagcac ctgactgacc ctttgcagat cagttttctt ccctccctga gtacgctaac
     3961 tttattctcc taacgcgact actgtctgct gccatttgcc tggcttgctt gaagatacct
     4021 tttatattaa cttgttctca cgtcaccgag gatagtccca gggagaccct gagaagcaga
     4081 cacgttgtca gtttctgaca gccagctact tccctaagca tggacaactt gcctcgcctt
     4141 ctcttggcta cagttaccga ccttggccac tgaggtaaaa taatagtaac tgaaaccggg
     4201 catccctaag agtagctggg atcaggtctt tgtggagcct ccatggcacc tcagtgcgtg
     4261 atgagttttc cagcgtctca gtggcgtgtg gggacaaaat tgctgagcag agatattcct
     4321 tcttctccag aatcctcagg ctaccttctt accttgattg ggttgggtgg gggagacagt
     4381 ttctgtctga agacattacc tgtggtttct gactcttgaa atgtttaacg gattaaatga
     4441 gatgtataag gtgcttccat tcaggaccag ggttaagtaa gtactcatga gacgtgccgc
     4501 ttcctcattc actgttcctt cgtaacttgg aagaccgcac aacagagttg cttagaaata
     4561 aaattggagc tgaggctctg gtgagatggc ttagcaggtg aaagcactgt caccaagtct
     4621 gacatgattt tgatccccag gacccatata gtggaaggag agaacctcaa attgcctgtc
     4681 ctcaaataca caggctctga tgtgctcgga gctcctctcc agcacaagag gacaccaaac
     4741 acacacacac acacacacat gagtaaataa atataaagaa aagtttttac tgtatctaag
     4801 cattacaggt caaattatgt gatttatgaa ttcagagtca ttgctacgtt acctccccct
     4861 gaagcagagc cggccggttc tcatttagtt gatcaagttg ctgtcttcta gtcctaacgc
     4921 attgcactgt ttcctttcaa gcccagtcag attactctta aactgtgtgc ctagtctgat
     4981 atggacttgc ctttctgtaa tctagctttg ggcagcaagc atcactatat ataatgattt
     5041 gcagaaccaa agattttgga atgcttcgtt ttatttaact acctgctctg tatgaaatgt
     5101 ggcttagtgg tacactaatt gcccagcatg tgtgaggtct ggattcagta caaagcacca
     5161 gaagtcagag accgaaggct taccacatgc ttgggctccc tagtgaatac cagcctatcc
     5221 tgggctacag tgtaaggccc tgtattgagg gaggacaaag gaggggagag aaagagagac
     5281 agagatagaa tgagaataaa tctgcccaca gatttaggtt tttatctaag ctaggcaaaa
     5341 tagcaggata tataatgcta ttttaagtag tcagttgtag gcggcagacc aactcggtgt
     5401 caatgccttt tgtgtaggac caatcggcaa gtatacattc cctgagaagt ttgttcccac
     5461 accttcagaa cacctaggct aaaatgctgc ttctataatt cctggaccta acctaagaga
     5521 atttctctga gggcccattt agtcatccag acttctgtct acttacgagt agctttcgca
     5581 gaagggcact gtcatataaa gtagtctgtc atgcacttta caaattataa gcttgtacag
     5641 ccttatgaca gtttattcta agcatgaaaa ctggttcatg agtttattaa atgtagctct
     5701 gtcagcctgt ggcatatgac tgtgacacat gtatgtgaat cttctggaca aggttatgtt
     5761 ttaaacatga aatttcagta tatgcttacc agtttaatat ttggttttat cttcaggtat
     5821 agtttatggt actactgaaa atagttttaa tattattact ctgatctgaa tttgtaatat
     5881 acaatctact ttgagatgat taataaaaat ttttaatctc ttgc
//
