LOCUS       NM_173430               2817 bp    mRNA    linear   ROD 11-FEB-2025
DEFINITION  Mus musculus fukutin related protein (Fkrp), transcript variant 1,
            mRNA.
ACCESSION   NM_173430 XM_984261
VERSION     NM_173430.2
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 2817)
  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 2817)
  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 2817)
  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 2817)
  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 2817)
  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 2817)
  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 2817)
  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 2817)
  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 2817)
  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 2817)
  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
            BY014040.1 and AJ511806.1.
            
            On or before May 4, 2006 this sequence version replaced
            XM_984261.1, NM_173430.1.
            
            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 :: AJ511806.1, AK135089.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                BY014040.1         2-18
            18-2817             AJ511806.1         1-2800
FEATURES             Location/Qualifiers
     source          1..2817
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57"
                     /db_xref="taxon:10090"
                     /chromosome="7"
                     /map="7 9.15 cM"
     gene            1..2817
                     /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..96
                     /gene="Fkrp"
                     /gene_synonym="A830029B19Rik; LGMD1I; MDC1C"
                     /inference="alignment:Splign:2.1.0"
     exon            97..2806
                     /gene="Fkrp"
                     /gene_synonym="A830029B19Rik; LGMD1I; MDC1C"
                     /inference="alignment:Splign:2.1.0"
     CDS             138..1622
                     /gene="Fkrp"
                     /gene_synonym="A830029B19Rik; LGMD1I; MDC1C"
                     /note="ribitol-5-phosphate transferase"
                     /codon_start=1
                     /product="ribitol 5-phosphate transferase FKRP"
                     /protein_id="NP_775606.1"
                     /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      1742
                     /gene="Fkrp"
                     /gene_synonym="A830029B19Rik; LGMD1I; MDC1C"
     regulatory      2755..2760
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Fkrp"
                     /gene_synonym="A830029B19Rik; LGMD1I; MDC1C"
                     /note="hexamer: AATAAG"
     polyA_site      2796
                     /gene="Fkrp"
                     /gene_synonym="A830029B19Rik; LGMD1I; MDC1C"
     polyA_site      2802
                     /gene="Fkrp"
                     /gene_synonym="A830029B19Rik; LGMD1I; MDC1C"
                     /note="major polyA site"
ORIGIN      
        1 attgctccaa gatggcggcg gcggcggcgg cggcagggca gatgacccaa ggtgaaacca
       61 ctcttcttga tcaccctcag cctgaaacct agggaggatg ccctggacgc cccagctagg
      121 gtctgacatc aggccccatg cggctcaccc gctgctgggc tgccctggca gccgccatca
      181 tcctcaacct cctagtcttc ttctatgtgt catggctaca acaccagccc agaaactccc
      241 gggcccgggg tccccgccgg acttctgcca ttggcccccg agtcaccgtc ctgattcggg
      301 aatttgaggc ttttgacaac gcggtgccag agctagtgga ttcctttttg cagcaggacc
      361 cagcccagcc cgtggtagtg gcggccgaca cactccctta cccacccctg gccttgcctc
      421 gcatccccaa cgttcgcctg gctctgctcc agccagccct ggaccggcca gcggcggcct
      481 cgcgcccgga gacctacgta gccaccgagt ttgtggctct agtgcctgat ggagcgcggg
      541 ccgagtcacc aggccacctg gagcgaatgg tggaggcgct ccgagggagc agcgcgcgcc
      601 tagtggccgc cccggtcgcc accgccaacc cagcgcggtg cctagctctg aacgtcagcc
      661 tgcgggagtg gactgcgcgc tacgacccag ctcccagcgc gccccgctgc gacgctttgg
      721 atggcgacgc tgtgctgctg atgcgctccc gcgacctctt caacctctcg gtgcccctgg
      781 cgcggccgct ggccaccagc ctcttcctac agaccgccct gcgcggctgg gcagtgcagc
      841 tgctggactt gaccttcgcc gcggcgcgcc agccaccgct ggccaccgcc cacgcgcgct
      901 ggaaggcgga acgtgagggg cgctcacgga gagcggcgct gctgcgctcg ttgggaatcc
      961 gtctggtgag ctgggaaggc gggcggctag agtggtttgg ctgcagcaag gagagcgcgc
     1021 gctgcttcgg tacggtggcg ggcgacacac ccgcctacct gtatgagggc cgctggaccc
     1081 caccttgttg cctgcgcgcg ctgcgcgaga ctgcgcgcta cgtggtgggc gtgctggagg
     1141 cggcgggcgt gcgctactgg ttggagggcg gctcgctgct gggtgcagct cgccacggcg
     1201 acatcatccc ttgggactac gacgtagatc tgggcatcta cctggaggac gtgggcaact
     1261 gcgagcagtt gcggggtgcc gaagctggct cggtagtgga tgaacgcggc tttgtgtggg
     1321 agaaggcggt ggagggcgac ttcttccgag tacagtacag tgagaacaac cacctgcacg
     1381 tggacctgtg gcccttttac ccccgcaatg gggttatgac caaggacacg tggctggacc
     1441 accggcagga tgttgagttc ccagagcact tcctgcagcc acttgtcccc ctgccctttg
     1501 cgggtttcat ggcacaggcc cctaacaact accgccgctt cctggagctg aagtttgggc
     1561 ctggggtcat cgagaacccg gagtacccca accccgcact cttaagcttg acaggcggtt
     1621 gaagccctgg tacccacatc tggggctagg tgaacagcag ggtacaagag tctgttcttg
     1681 cctcggattg tgtatggatc tgaaccagtt tgtgattggg tagtggggct gtgcactgga
     1741 gggaagaaaa aaaaagggtg aactggccaa ggaagattgg agggaacaca caggacagtt
     1801 tcagctttgg cgggaagcag aacccaaaga ctggagcaac tcagcctcat gagggaggaa
     1861 agtggtggcc tttgatagaa aagcccaggg agtctttagg gctctgcata gtctctgccc
     1921 tatattccaa gagctgtagg cccttggaga gtgagatccg gagaacagac gagccagcct
     1981 cagtctacca catacaactt aggtatccct ggaccagtta gttacccagt ctgtttcatt
     2041 tgagataccg aatgcctccc tttgtgttta ggatcctcag gacgcttggc tccagtgctt
     2101 gcttcctcca ctagagggca cttctgtccc gcttcagttc gtgtttgatg accgctcgcg
     2161 gctctgcttc atcaccttca tctctggttt tcttggagtg gctctgggag gtgggacagc
     2221 actggccacc tcctctcctc cccgaatgtg gcactttcct ttgagagtgc tgcttgatgt
     2281 atctgctgct tctaacccca tcttgctctt ggaggactga ctgggctctc tctggtttgg
     2341 gatctggcca atgcattacc tctttatttc agccctctgc acctgttccc cgccttcccc
     2401 ctcccttcta ggaagggata aaccttcgcc atagctcaca tttacaaaga gctttcgggc
     2461 tcaggcatac actcggaagt gacagctgct attacgtcca ttttccgggg aggaaaactg
     2521 aggccaaaat gacagtcact tgccagtaat cagatatttt aggaagtggc tagtaaggga
     2581 cttgaattca gatcaccgtt tcaaggccca cacttcattt cctctctagg ttctgctgta
     2641 gaaatagtac ccaagtggag ccttgccatg gctgtgccac tcaaacaggt ttaaaaaaaa
     2701 attctcattt aattatgcat ataaattatg ttcaaaccag tctgtatatt gttaaataag
     2761 acttaaatta tgctacttta aagtttaaaa attcaagaca aatagaaaaa aaaaaaa
//
