LOCUS       NM_024301               3411 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens fukutin related protein (FKRP), transcript variant 1,
            mRNA.
ACCESSION   NM_024301
VERSION     NM_024301.5
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 3411)
  AUTHORS   Jensen,S., Abeler,K., Friborg,O., Rosner,A., Olsborg,C.,
            Mellgren,S.I., Muller,K.I., Rosenberger,A.D., Vold,M.L. and
            Arntzen,K.A.
  TITLE     Insomnia and sleep-disordered breathing in FKRP-related limb-girdle
            muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)
  JOURNAL   J Neurol 271 (1), 274-288 (2024)
   PUBMED   37695533
  REMARK    GeneRIF: Insomnia and sleep-disordered breathing in FKRP-related
            limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort
            study (2020).
REFERENCE   2  (bases 1 to 3411)
  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 3411)
  AUTHORS   Jensen,S.M., Friborg,O., Mellgren,S.I., Muller,K.I., Bergvik,S. and
            Arntzen,K.A.
  TITLE     Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular
            Dystrophy R9
  JOURNAL   J Neuromuscul Dis 11 (1), 59-74 (2024)
   PUBMED   37927270
  REMARK    GeneRIF: Health-Related Quality of Life in FKRP-Related Limb-Girdle
            Muscular Dystrophy R9.
REFERENCE   4  (bases 1 to 3411)
  AUTHORS   Unnikrishnan,G., Polavarapu,K., Bardhan,M., Nashi,S., Vengalil,S.,
            Preethish-Kumar,V., Valasani,R.K., Huddar,A., Nishadham,V.,
            Nandeesh,B.N. and Nalini,A.
  TITLE     Phenotype Genotype Characterization of FKRP-related Muscular
            Dystrophy among Indian Patients
  JOURNAL   J Neuromuscul Dis 10 (4), 615-626 (2023)
   PUBMED   37154180
  REMARK    GeneRIF: Phenotype Genotype Characterization of FKRP-related
            Muscular Dystrophy among Indian Patients.
REFERENCE   5  (bases 1 to 3411)
  AUTHORS   Brockington,M., Blake,D.J., Prandini,P., Brown,S.C., Torelli,S.,
            Benson,M.A., Ponting,C.P., Estournet,B., Romero,N.B., Mercuri,E.,
            Voit,T., Sewry,C.A., Guicheney,P. and Muntoni,F.
  TITLE     Mutations in the fukutin-related protein gene (FKRP) cause a form
            of congenital muscular dystrophy with secondary laminin alpha2
            deficiency and abnormal glycosylation of alpha-dystroglycan
  JOURNAL   Am J Hum Genet 69 (6), 1198-1209 (2001)
   PUBMED   11592034
REFERENCE   6  (bases 1 to 3411)
  AUTHORS   Talim,B., Ferreiro,A., Cormand,B., Vignier,N., Oto,A., Gogus,S.,
            Cila,A., Lehesjoki,A.E., Pihko,H., Guicheney,P. and Topaloglu,H.
  TITLE     Merosin-deficient congenital muscular dystrophy with mental
            retardation and cerebellar cysts unlinked to the LAMA2, FCMD and
            MEB loci
  JOURNAL   Neuromuscul Disord 10 (8), 548-552 (2000)
   PUBMED   11053680
REFERENCE   7  (bases 1 to 3411)
  AUTHORS   Mercuri,E., Sewry,C.A., Brown,S.C., Brockington,M., Jungbluth,H.,
            DeVile,C., Counsell,S., Manzur,A. and Muntoni,F.
  TITLE     Congenital muscular dystrophy with secondary merosin deficiency and
            normal brain MRI: a novel entity?
  JOURNAL   Neuropediatrics 31 (4), 186-189 (2000)
   PUBMED   11071142
REFERENCE   8  (bases 1 to 3411)
  AUTHORS   Lazar,V. and Garcia,J.G.
  TITLE     A single human myosin light chain kinase gene (MLCK; MYLK)
  JOURNAL   Genomics 57 (2), 256-267 (1999)
   PUBMED   10198165
REFERENCE   9  (bases 1 to 3411)
  AUTHORS   Pegoraro,E. and Hoffman,E.P.
  TITLE     Limb-Girdle Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301582
REFERENCE   10 (bases 1 to 3411)
  AUTHORS   Sparks,S.E., Quijano-Roy,S., Harper,A., Rutkowski,A., Gordon,E.,
            Hoffman,E.P. and Pegoraro,E.
  TITLE     Congenital Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301468
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA123579.1, AK022638.1,
            CX866271.1 and AW504292.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_024301.4.
            
            Summary: This gene encodes a protein which is targeted to the
            medial Golgi apparatus and is necessary for posttranslational
            modification of dystroglycan. Mutations in this gene have been
            associated with congenital muscular dystrophy, cognitive
            disability, and cerebellar cysts. Several alternatively spliced
            transcript variants of this gene have been described, but the
            full-length nature of some of these variants has not been
            determined. [provided by RefSeq, Oct 2008].
            
            Transcript Variant: This variant (1) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 encode the same protein.
            
            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 :: AJ314847.1, AK022638.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000318584.10/ ENSP00000326570.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 DA123579.1         12-12
            2-2749              AK022638.1         1-2748
            2750-3227           CX866271.1         11-488              c
            3228-3411           AW504292.1         8-191               c
FEATURES             Location/Qualifiers
     source          1..3411
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     gene            1..3411
                     /gene="FKRP"
                     /gene_synonym="FKTR; LGMD2I; LGMDR9; MDC1C; MDDGA5;
                     MDDGB5; MDDGC5"
                     /note="fukutin related protein"
                     /db_xref="GeneID:79147"
                     /db_xref="HGNC:HGNC:17997"
                     /db_xref="MIM:606596"
     exon            1..34
                     /gene="FKRP"
                     /gene_synonym="FKTR; LGMD2I; LGMDR9; MDC1C; MDDGA5;
                     MDDGB5; MDDGC5"
                     /inference="alignment:Splign:2.1.0"
     exon            35..96
                     /gene="FKRP"
                     /gene_synonym="FKTR; LGMD2I; LGMDR9; MDC1C; MDDGA5;
                     MDDGB5; MDDGC5"
                     /inference="alignment:Splign:2.1.0"
     exon            97..247
                     /gene="FKRP"
                     /gene_synonym="FKTR; LGMD2I; LGMDR9; MDC1C; MDDGA5;
                     MDDGB5; MDDGC5"
                     /inference="alignment:Splign:2.1.0"
     exon            248..3411
                     /gene="FKRP"
                     /gene_synonym="FKTR; LGMD2I; LGMDR9; MDC1C; MDDGA5;
                     MDDGB5; MDDGC5"
                     /inference="alignment:Splign:2.1.0"
     CDS             287..1774
                     /gene="FKRP"
                     /gene_synonym="FKTR; LGMD2I; LGMDR9; MDC1C; MDDGA5;
                     MDDGB5; MDDGC5"
                     /note="ribitol-5-phosphate transferase"
                     /codon_start=1
                     /product="ribitol 5-phosphate transferase FKRP"
                     /protein_id="NP_077277.1"
                     /db_xref="CCDS:CCDS12691.1"
                     /db_xref="GeneID:79147"
                     /db_xref="HGNC:HGNC:17997"
                     /db_xref="MIM:606596"
                     /translation="MRLTRCQAALAAAITLNLLVLFYVSWLQHQPRNSRARGPRRASA
                     AGPRVTVLVREFEAFDNAVPELVDSFLQQDPAQPVVVAADTLPYPPLALPRIPNVRLA
                     LLQPALDRPAAASRPETYVATEFVALVPDGARAEAPGLLERMVEALRAGSARLVAAPV
                     ATANPARCLALNVSLREWTARYGAAPAAPRCDALDGDAVVLLRARDLFNLSAPLARPV
                     GTSLFLQTALRGWAVQLLDLTFAAARQPPLATAHARWKAEREGRARRAALLRALGIRL
                     VSWEGGRLEWFGCNKETTRCFGTVVGDTPAYLYEERWTPPCCLRALRETARYVVGVLE
                     AAGVRYWLEGGSLLGAARHGDIIPWDYDVDLGIYLEDVGNCEQLRGAEAGSVVDERGF
                     VWEKAVEGDFFRVQYSESNHLHVDLWPFYPRNGVMTKDTWLDHRQDVEFPEHFLQPLV
                     PLPFAGFVAQAPNNYRRFLELKFGPGVIENPQYPNPALLSLTGSG"
     regulatory      3207..3212
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FKRP"
                     /gene_synonym="FKTR; LGMD2I; LGMDR9; MDC1C; MDDGA5;
                     MDDGB5; MDDGC5"
                     /note="hexamer: AATAAA"
     polyA_site      3229
                     /gene="FKRP"
                     /gene_synonym="FKTR; LGMD2I; LGMDR9; MDC1C; MDDGA5;
                     MDDGB5; MDDGC5"
                     /note="major polyA site"
     regulatory      3290..3295
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FKRP"
                     /gene_synonym="FKTR; LGMD2I; LGMDR9; MDC1C; MDDGA5;
                     MDDGB5; MDDGC5"
                     /note="hexamer: AATAAA"
     polyA_site      3318
                     /gene="FKRP"
                     /gene_synonym="FKTR; LGMD2I; LGMDR9; MDC1C; MDDGA5;
                     MDDGB5; MDDGC5"
                     /note="major polyA site"
ORIGIN      
        1 cattgctcca agatggcggc ggcggcggca gcgggagcgc agctcagctg ggctggaact
       61 gccctcctgg aactccccca gcctacaacc taggaggtgc agggactgag gctcaggcca
      121 aatcgcaact cagacccagt gaacccaagg cctgaagaga atttggattc atttaccttg
      181 ttttgtgggg actggagaga caagtaaact ctcagagtaa ctgtcccctc tgactaccat
      241 ttctaaggat gccccggagg cccagctagc cccagacttc ggccccatgc ggctcacccg
      301 ctgccaggct gccctggcgg ccgccatcac cctcaacctt ctggtcctct tctatgtctc
      361 gtggctgcag caccagccta ggaattcccg ggcccggggg ccccgtcgtg cctctgctgc
      421 cggcccccgt gtcaccgtcc tggtgcggga gttcgaggca tttgacaacg cggtgcccga
      481 gctggtagac tccttcctgc agcaagaccc agcccagccc gtggtggtgg cagccgacac
      541 gctcccctac ccgcccctgg ccctgccccg catccccaac gtgcgtctgg cgctgctcca
      601 gcccgccctg gaccggccag ccgcagcctc gcgcccggag acctacgtgg ccaccgagtt
      661 tgtggcccta gtacctgatg gggcgcgggc tgaggcacct ggcctgctgg agcgcatggt
      721 ggaggcgctc cgcgcaggaa gcgcacgtct ggtggccgcc ccggttgcca cggccaaccc
      781 tgccaggtgc ctggccctga acgtcagcct gcgagagtgg accgcccgct atggcgcagc
      841 ccccgccgcg ccccgctgcg acgccctgga cggagatgct gtggtgctcc tgcgcgcccg
      901 cgacctcttc aacctctcgg cgcccctggc ccggccggtg ggcaccagcc tctttctgca
      961 gaccgccctt cgcggctggg cggtgcagct gctggacttg accttcgccg cggcgcgcca
     1021 gcccccgctg gccacggccc acgcgcgctg gaaggctgag cgcgagggac gcgctcggcg
     1081 ggcggcgctg ctccgcgcgc tgggcatccg cctagtgagc tgggaaggcg ggcggctgga
     1141 gtggttcggc tgcaacaagg agaccacgcg ctgcttcgga accgtggtgg gcgacacgcc
     1201 cgcctacctc tacgaggagc gctggacgcc cccctgctgc ctgcgcgcgc tgcgcgagac
     1261 cgcccgctat gtggtgggcg tgctggaggc tgcgggcgtg cgctactggc tcgagggcgg
     1321 ctcactgctg ggggccgccc gccacgggga catcatccca tgggactacg acgtggacct
     1381 gggcatctac ttggaggacg tgggcaactg cgagcagctg cggggggcag aggccggctc
     1441 ggtggtggat gagcgcggct tcgtatggga gaaggcggtc gagggcgact ttttccgcgt
     1501 gcagtacagc gaaagcaacc acttgcacgt ggacctgtgg cccttctacc cccgcaatgg
     1561 cgtcatgacc aaggacacgt ggctggacca ccggcaggat gtggagtttc ccgagcactt
     1621 cctgcagccg ctggtgcccc tgccctttgc cggcttcgtg gcgcaggcgc ctaacaacta
     1681 ccgccgcttc ctggagctca agttcgggcc cggggtcatc gagaaccccc agtaccccaa
     1741 cccggcactg ctgagtctga cgggaagcgg ctgaagccct gataacctcg cctttgtttt
     1801 tcgggggtct gtctggatgt ggagaagctc tgtgtgagcg gtgaggggtg gagggatgtc
     1861 gcggagaggg gaagggggaa actgaccaag aaagaaattc taaggagagc atgagagaag
     1921 gctggcattg gcaggaggag agcaccagga cgaggatggg aagcgacctc cagatttatc
     1981 aaatggtcat gcccactggg agccgtggat atgcgtgggg acatcctggg tcatctcagt
     2041 catggaggga gacggggatg tcacgccgtc ccgcagggcc cagcacagcc ccagacccga
     2101 aaaaagtgtt ctgcccaaga ttccgagagc cctgcgctct agggcagggg cagagttttg
     2161 gaaacagtgc aggctctgga gccagactgg cgagattcaa atcctggctc tatcgcttcg
     2221 gagccaggtg ggcctggggg ggcgtcgcag tctctctgtg cctcagttgc ttccaggatg
     2281 cgggaccctt ggctgcaggg gttgcttccg ccactagagg gcgcgccggt cccgctcctg
     2341 gtggcccact gtggctgccc gggcgacagt acgcccaggg cctgtgttcc atagccatct
     2401 actctcttga gcctttggac ttctctccaa gcccctgtgg gaggcggaca gcagtgacca
     2461 cctccccttc ttttggactg cgacctcctt ccctcctggg agagccctgt gacctgcatg
     2521 ctactcttaa ctgttctatt caagactgaa tagaagtatt tcagtcttgc agaggaggaa
     2581 atgctcagag ctccgaggtg cggctgtggt cgagaaccgg gtgctgggcc gggcgcgggg
     2641 gctcacgcct gtaatcccag cactttggga ggccgaggtg ggaggatcgc ttgagcccag
     2701 gagtctgaga ccagcctcgg caacatgcca agaccccgtc tctattttta aaaaagaaaa
     2761 agaaccgact tctgaatcgc agctccactc atgactaata cctcattatt tcagctgtct
     2821 gcacctaatt ccccacttgc acggcagtgt agacaataac catagctcac actcactgag
     2881 cacctactgg gtaccaggca ccattctcag tgtttcacct ggatcaacta atgcgtccct
     2941 cacctcagcc ctctgaagtg acagctgcta ttattttcat tacacagatg aaaaagctga
     3001 ggccagaatc gtgaagtcac ttgctcaagg tcaggcagct taggaagggg cagatcgggg
     3061 gcttgaaccc aggtggtcag gctctggagc ccacaattgt cttacccact atgcccctct
     3121 ctagtcatgg tccccaagag gggcttggag acccacttag caggtgaaag caatggcagc
     3181 cttccttatt tgattatgca cctaagaata aatggtattt gggcatgtat tcccaatatg
     3241 tgtatattta tttataaata tatacagata ctattatctg tatgttagta ataaagctta
     3301 aattattcca ttttaaaatt atgaatatga atagggtttt ttttatgttt cttgcctcat
     3361 cccaatgact tttgcacacc caggtgtgag cacccagcat tcaagaccac g
//
