LOCUS       NM_001358846            2814 bp    mRNA    linear   ROD 11-FEB-2025
DEFINITION  Mus musculus fukutin related protein (Fkrp), transcript variant 2,
            mRNA.
ACCESSION   NM_001358846 XM_006539928
VERSION     NM_001358846.1
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 2814)
  AUTHORS   Cataldi,M.P. and Lu,Q.L.
  TITLE     Ribitol and ribose treatments differentially affect metabolism of
            muscle tissue in FKRP mutant mice
  JOURNAL   Sci Rep 15 (1), 1329 (2025)
   PUBMED   39779805
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2814)
  AUTHORS   Lu,Q.L., Holbrook,M.C., Cataldi,M.P. and Blaeser,A.
  TITLE     Break Down of the Complexity and Inconsistency Between Levels of
            Matriglycan and Disease Phenotype in FKRP-Related
            Dystroglycanopathies: A Review and Model of Interpretation
  JOURNAL   J Neuromuscul Dis 11 (2), 275-284 (2024)
   PUBMED   38277301
  REMARK    GeneRIF: Break Down of the Complexity and Inconsistency Between
            Levels of Matriglycan and Disease Phenotype in FKRP-Related
            Dystroglycanopathies: A Review and Model of Interpretation.
            Review article
REFERENCE   3  (bases 1 to 2814)
  AUTHORS   Brown,S.C., Fernandez-Fuente,M., Muntoni,F. and Vissing,J.
  TITLE     Phenotypic Spectrum of alpha-Dystroglycanopathies Associated With
            the c.919T>a Variant in the FKRP Gene in Humans and Mice
  JOURNAL   J Neuropathol Exp Neurol 79 (12), 1257-1264 (2020)
   PUBMED   33051673
  REMARK    GeneRIF: Phenotypic Spectrum of alpha-Dystroglycanopathies
            Associated With the c.919T>a Variant in the FKRP Gene in Humans and
            Mice.
            Review article
REFERENCE   4  (bases 1 to 2814)
  AUTHORS   Collin,G.B., Gogna,N., Chang,B., Damkham,N., Pinkney,J., Hyde,L.F.,
            Stone,L., Naggert,J.K., Nishina,P.M. and Krebs,M.P.
  TITLE     Mouse Models of Inherited Retinal Degeneration with Photoreceptor
            Cell Loss
  JOURNAL   Cells 9 (4), 931 (2020)
   PUBMED   32290105
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2814)
  AUTHORS   Vannoy,C.H., Leroy,V., Broniowska,K. and Lu,Q.L.
  TITLE     Metabolomics Analysis of Skeletal Muscles from FKRP-Deficient Mice
            Indicates Improvement After Gene Replacement Therapy
  JOURNAL   Sci Rep 9 (1), 10070 (2019)
   PUBMED   31296900
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2814)
  AUTHORS   Ackroyd,M.R., Skordis,L., Kaluarachchi,M., Godwin,J., Prior,S.,
            Fidanboylu,M., Piercy,R.J., Muntoni,F. and Brown,S.C.
  TITLE     Reduced expression of fukutin related protein in mice results in a
            model for fukutin related protein associated muscular dystrophies
  JOURNAL   Brain 132 (Pt 2), 439-451 (2009)
   PUBMED   19155270
  REMARK    GeneRIF: results suggest the generation of a mouse model for FKRP
            related muscular dystrophy requires a knock-down rather than a
            knock-in strategy in order to give rise to a disease phenotype.
REFERENCE   7  (bases 1 to 2814)
  AUTHORS   Beedle,A.M., Nienaber,P.M. and Campbell,K.P.
  TITLE     Fukutin-related protein associates with the sarcolemmal
            dystrophin-glycoprotein complex
  JOURNAL   J Biol Chem 282 (23), 16713-16717 (2007)
   PUBMED   17452335
  REMARK    GeneRIF: data offer the first evidence of a fukutin-related protein
            (FKRP) complex in muscle and suggest that FKRP may influence the
            glycosylation status of dystroglycan from within the sarcolemmal
            dystrophin-glycoprotein complex
REFERENCE   8  (bases 1 to 2814)
  AUTHORS   Kurahashi,H., Taniguchi,M., Meno,C., Taniguchi,Y., Takeda,S.,
            Horie,M., Otani,H. and Toda,T.
  TITLE     Basement membrane fragility underlies embryonic lethality in
            fukutin-null mice
  JOURNAL   Neurobiol Dis 19 (1-2), 208-217 (2005)
   PUBMED   15837576
  REMARK    GeneRIF: Basement membrane (BM) fragility may underlie abnormal
            phenotypes in fukutin-null embryos, and maintenance of BM function
            may require fukutin-mediated glycosylation of alpha-dystroglycan
            early in embryonic development.
REFERENCE   9  (bases 1 to 2814)
  AUTHORS   Esapa,C.T., McIlhinney,R.A. and Blake,D.J.
  TITLE     Fukutin-related protein mutations that cause congenital muscular
            dystrophy result in ER-retention of the mutant protein in cultured
            cells
  JOURNAL   Hum Mol Genet 14 (2), 295-305 (2005)
   PUBMED   15574464
REFERENCE   10 (bases 1 to 2814)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK135089.1 and BC053072.1.
            
            On Dec 12, 2017 this sequence version replaced XM_006539928.3.
            
            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 :: BC053072.1, AK168308.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                AK135089.1         2-15
            15-2814             BC053072.1         1-2800
FEATURES             Location/Qualifiers
     source          1..2814
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="7"
                     /map="7 9.15 cM"
     gene            1..2814
                     /gene="Fkrp"
                     /gene_synonym="A830029B19Rik; LGMD1I; MDC1C"
                     /note="fukutin related protein"
                     /db_xref="GeneID:243853"
                     /db_xref="MGI:MGI:2447586"
     exon            1..33
                     /gene="Fkrp"
                     /gene_synonym="A830029B19Rik; LGMD1I; MDC1C"
                     /inference="alignment:Splign:2.1.0"
     exon            34..93
                     /gene="Fkrp"
                     /gene_synonym="A830029B19Rik; LGMD1I; MDC1C"
                     /inference="alignment:Splign:2.1.0"
     exon            94..2803
                     /gene="Fkrp"
                     /gene_synonym="A830029B19Rik; LGMD1I; MDC1C"
                     /inference="alignment:Splign:2.1.0"
     CDS             135..1619
                     /gene="Fkrp"
                     /gene_synonym="A830029B19Rik; LGMD1I; MDC1C"
                     /note="ribitol-5-phosphate transferase"
                     /codon_start=1
                     /product="ribitol 5-phosphate transferase FKRP"
                     /protein_id="NP_001345775.1"
                     /db_xref="CCDS:CCDS20853.1"
                     /db_xref="GeneID:243853"
                     /db_xref="MGI:MGI:2447586"
                     /translation="MRLTRCWAALAAAIILNLLVFFYVSWLQHQPRNSRARGPRRTSA
                     IGPRVTVLIREFEAFDNAVPELVDSFLQQDPAQPVVVAADTLPYPPLALPRIPNVRLA
                     LLQPALDRPAAASRPETYVATEFVALVPDGARAESPGHLERMVEALRGSSARLVAAPV
                     ATANPARCLALNVSLREWTARYDPAPSAPRCDALDGDAVLLMRSRDLFNLSVPLARPL
                     ATSLFLQTALRGWAVQLLDLTFAAARQPPLATAHARWKAEREGRSRRAALLRSLGIRL
                     VSWEGGRLEWFGCSKESARCFGTVAGDTPAYLYEGRWTPPCCLRALRETARYVVGVLE
                     AAGVRYWLEGGSLLGAARHGDIIPWDYDVDLGIYLEDVGNCEQLRGAEAGSVVDERGF
                     VWEKAVEGDFFRVQYSENNHLHVDLWPFYPRNGVMTKDTWLDHRQDVEFPEHFLQPLV
                     PLPFAGFMAQAPNNYRRFLELKFGPGVIENPEYPNPALLSLTGG"
     polyA_site      1739
                     /gene="Fkrp"
                     /gene_synonym="A830029B19Rik; LGMD1I; MDC1C"
     regulatory      2752..2757
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Fkrp"
                     /gene_synonym="A830029B19Rik; LGMD1I; MDC1C"
                     /note="hexamer: AATAAG"
     polyA_site      2793
                     /gene="Fkrp"
                     /gene_synonym="A830029B19Rik; LGMD1I; MDC1C"
     polyA_site      2799
                     /gene="Fkrp"
                     /gene_synonym="A830029B19Rik; LGMD1I; MDC1C"
                     /note="major polyA site"
ORIGIN      
        1 attgctccaa gatggcggcg gcggcggcgg cggggcagat gacccaaggt gaaaccactc
       61 ttcttgatca ccctcagcct gaaacctagg gaggatgccc tggacgcccc agctagggtc
      121 tgacatcagg ccccatgcgg ctcacccgct gctgggctgc cctggcagcc gccatcatcc
      181 tcaacctcct agtcttcttc tatgtgtcat ggctacaaca ccagcccaga aactcccggg
      241 cccggggtcc ccgccggact tctgccattg gcccccgagt caccgtcctg attcgggaat
      301 ttgaggcttt tgacaacgcg gtgccagagc tagtggattc ctttttgcag caggacccag
      361 cccagcccgt ggtagtggcg gccgacacac tcccttaccc acccctggcc ttgcctcgca
      421 tccccaacgt tcgcctggct ctgctccagc cagccctgga ccggccagcg gcggcctcgc
      481 gcccggagac ctacgtagcc accgagtttg tggctctagt gcctgatgga gcgcgggccg
      541 agtcaccagg ccacctggag cgaatggtgg aggcgctccg agggagcagc gcgcgcctag
      601 tggccgcccc ggtcgccacc gccaacccag cgcggtgcct agctctgaac gtcagcctgc
      661 gggagtggac tgcgcgctac gacccagctc ccagcgcgcc ccgctgcgac gctttggatg
      721 gcgacgctgt gctgctgatg cgctcccgcg acctcttcaa cctctcggtg cccctggcgc
      781 ggccgctggc caccagcctc ttcctacaga ccgccctgcg cggctgggca gtgcagctgc
      841 tggacttgac cttcgccgcg gcgcgccagc caccgctggc caccgcccac gcgcgctgga
      901 aggcggaacg tgaggggcgc tcacggagag cggcgctgct gcgctcgttg ggaatccgtc
      961 tggtgagctg ggaaggcggg cggctagagt ggtttggctg cagcaaggag agcgcgcgct
     1021 gcttcggtac ggtggcgggc gacacacccg cctacctgta tgagggccgc tggaccccac
     1081 cttgttgcct gcgcgcgctg cgcgagactg cgcgctacgt ggtgggcgtg ctggaggcgg
     1141 cgggcgtgcg ctactggttg gagggcggct cgctgctggg tgcagctcgc cacggcgaca
     1201 tcatcccttg ggactacgac gtagatctgg gcatctacct ggaggacgtg ggcaactgcg
     1261 agcagttgcg gggtgccgaa gctggctcgg tagtggatga acgcggcttt gtgtgggaga
     1321 aggcggtgga gggcgacttc ttccgagtac agtacagtga gaacaaccac ctgcacgtgg
     1381 acctgtggcc cttttacccc cgcaatgggg ttatgaccaa ggacacgtgg ctggaccacc
     1441 ggcaggatgt tgagttccca gagcacttcc tgcagccact tgtccccctg ccctttgcgg
     1501 gtttcatggc acaggcccct aacaactacc gccgcttcct ggagctgaag tttgggcctg
     1561 gggtcatcga gaacccggag taccccaacc ccgcactctt aagcttgaca ggcggttgaa
     1621 gccctggtac ccacatctgg ggctaggtga acagcagggt acaagagtct gttcttgcct
     1681 cggattgtgt atggatctga accagtttgt gattgggtag tggggctgtg cactggaggg
     1741 aagaaaaaaa aagggtgaac tggccaagga agattggagg gaacacacag gacagtttca
     1801 gctttggcgg gaagcagaac ccaaagactg gagcaactca gcctcatgag ggaggaaagt
     1861 ggtggccttt gatagaaaag cccagggagt ctttagggct ctgcatagtc tctgccctat
     1921 attccaagag ctgtaggccc ttggagagtg agatccggag aacagacgag ccagcctcag
     1981 tctaccacat acaacttagg tatccctgga ccagttagtt acccagtctg tttcatttga
     2041 gataccgaat gcctcccttt gtgtttagga tcctcaggac gcttggctcc agtgcttgct
     2101 tcctccacta gagggcactt ctgtcccgct tcagttcgtg tttgatgacc gctcgcggct
     2161 ctgcttcatc accttcatct ctggttttct tggagtggct ctgggaggtg ggacagcact
     2221 ggccacctcc tctcctcccc gaatgtggca ctttcctttg agagtgctgc ttgatgtatc
     2281 tgctgcttct aaccccatct tgctcttgga ggactgactg ggctctctct ggtttgggat
     2341 ctggccaatg cattacctct ttatttcagc cctctgcacc tgttccccgc cttccccctc
     2401 ccttctagga agggataaac cttcgccata gctcacattt acaaagagct ttcgggctca
     2461 ggcatacact cggaagtgac agctgctatt acgtccattt tccggggagg aaaactgagg
     2521 ccaaaatgac agtcacttgc cagtaatcag atattttagg aagtggctag taagggactt
     2581 gaattcagat caccgtttca aggcccacac ttcatttcct ctctaggttc tgctgtagaa
     2641 atagtaccca agtggagcct tgccatggct gtgccactca aacaggttta aaaaaaaatt
     2701 ctcatttaat tatgcatata aattatgttc aaaccagtct gtatattgtt aaataagact
     2761 taaattatgc tactttaaag tttaaaaatt caagacaaat agaaaaaaaa aaaa
//
