GGRNA ver.2 Home | Help | Advanced search    Previous release (v1)

2024-04-27 02:35:21, GGRNA.v2 : RefSeq release 222 (Jan, 2024)

LOCUS       NM_001025678            2860 bp    mRNA    linear   ROD 12-JUN-2023
DEFINITION  Rattus norvegicus fukutin related protein (Fkrp), mRNA.
ACCESSION   NM_001025678 XM_218425
VERSION     NM_001025678.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 2860)
  AUTHORS   Qiao C, Wang CH, Zhao C, Lu P, Awano H, Xiao B, Li J, Yuan Z, Dai
            Y, Martin CB, Li J, Lu Q and Xiao X.
  TITLE     Muscle and heart function restoration in a limb girdle muscular
            dystrophy 2I (LGMD2I) mouse model by systemic FKRP gene delivery
  JOURNAL   Mol Ther 22 (11), 1890-1899 (2014)
   PUBMED   25048216
REFERENCE   2  (bases 1 to 2860)
  AUTHORS   Willer T, Inamori K, Venzke D, Harvey C, Morgensen G, Hara Y,
            Beltran Valero de Bernabe D, Yu L, Wright KM and Campbell KP.
  TITLE     The glucuronyltransferase B4GAT1 is required for initiation of
            LARGE-mediated alpha-dystroglycan functional glycosylation
  JOURNAL   Elife 3, e03941 (2014)
   PUBMED   25279699
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2860)
  AUTHORS   Hong D, Zhang W, Wang W, Wang Z and Yuan Y.
  TITLE     Asian patients with limb girdle muscular dystrophy 2I (LGMD2I)
  JOURNAL   J Clin Neurosci 18 (4), 494-499 (2011)
   PUBMED   21296577
REFERENCE   4  (bases 1 to 2860)
  AUTHORS   Wang CH, Chan YM, Tang RH, Xiao B, Lu P, Keramaris-Vrantsis E,
            Zheng H, Qiao C, Jiang J, Li J, Ma HI, Lu Q and Xiao X.
  TITLE     Post-Natal knockdown of fukutin-related protein expression in
            muscle by long-termRNA interference induces dystrophic pathology
            [corrected]
  JOURNAL   Am J Pathol 178 (1), 261-272 (2011)
   PUBMED   21224063
  REMARK    Erratum:[Am J Pathol. 2011 Mar;178(3):1406]
REFERENCE   5  (bases 1 to 2860)
  AUTHORS   Chan YM, Keramaris-Vrantsis E, Lidov HG, Norton JH, Zinchenko N,
            Gruber HE, Thresher R, Blake DJ, Ashar J, Rosenfeld J and Lu QL.
  TITLE     Fukutin-related protein is essential for mouse muscle, brain and
            eye development and mutation recapitulates the wide clinical
            spectrums of dystroglycanopathies
  JOURNAL   Hum Mol Genet 19 (20), 3995-4006 (2010)
   PUBMED   20675713
REFERENCE   6  (bases 1 to 2860)
  AUTHORS   Louhichi N, Triki C, Quijano-Roy S, Richard P, Makri S, Meziou M,
            Estournet B, Mrad S, Romero NB, Ayadi H, Guicheney P and Fakhfakh
            F.
  TITLE     New FKRP mutations causing congenital muscular dystrophy associated
            with mental retardation and central nervous system abnormalities.
            Identification of a founder mutation in Tunisian families
  JOURNAL   Neurogenetics 5 (1), 27-34 (2004)
   PUBMED   14652796
REFERENCE   7  (bases 1 to 2860)
  AUTHORS   Harel T, Goldberg Y, Shalev SA, Chervinski I, Ofir R and Birk OS.
  TITLE     Limb-girdle muscular dystrophy 2I: phenotypic variability within a
            large consanguineous Bedouin family associated with a novel FKRP
            mutation
  JOURNAL   Eur J Hum Genet 12 (1), 38-43 (2004)
   PUBMED   14523375
REFERENCE   8  (bases 1 to 2860)
  AUTHORS   Esapa CT, Benson MA, Schroder JE, Martin-Rendon E, Brockington M,
            Brown SC, Muntoni F, Kroger S and Blake DJ.
  TITLE     Functional requirements for fukutin-related protein in the Golgi
            apparatus
  JOURNAL   Hum Mol Genet 11 (26), 3319-3331 (2002)
   PUBMED   12471058
REFERENCE   9  (bases 1 to 2860)
  AUTHORS   Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA,
            Herrmann R, Anderson LV, Bashir R, Burgunder JM, Fallet S, Romero
            N, Fardeau M, Straub V, Storey G, Pollitt C, Richard I, Sewry CA,
            Bushby K, Voit T, Blake DJ and Muntoni F.
  TITLE     Mutations in the fukutin-related protein gene (FKRP) identify limb
            girdle muscular dystrophy 2I as a milder allelic variant of
            congenital muscular dystrophy MDC1C
  JOURNAL   Hum Mol Genet 10 (25), 2851-2859 (2001)
   PUBMED   11741828
REFERENCE   10 (bases 1 to 2860)
  AUTHORS   Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson
            MA, Ponting CP, Estournet B, Romero NB, Mercuri E, Voit T, Sewry
            CA, 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
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC099170.1.
            
            On Jul 22, 2005 this sequence version replaced XM_218425.2.
            
            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 :: BC099170.1, CK365067.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMD00132261, SAMD00132262
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2860
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /db_xref="taxon:10116"
                     /chromosome="1"
                     /map="1q21"
     gene            1..2860
                     /gene="Fkrp"
                     /note="fukutin related protein"
                     /db_xref="GeneID:308390"
                     /db_xref="RGD:1305852"
     exon            1..50
                     /gene="Fkrp"
                     /inference="alignment:Splign:2.1.0"
     exon            51..2834
                     /gene="Fkrp"
                     /inference="alignment:Splign:2.1.0"
     misc_feature    71..73
                     /gene="Fkrp"
                     /note="upstream in-frame stop codon"
     CDS             92..1576
                     /gene="Fkrp"
                     /codon_start=1
                     /product="ribitol 5-phosphate transferase FKRP"
                     /protein_id="NP_001020849.1"
                     /db_xref="GeneID:308390"
                     /db_xref="RGD:1305852"
                     /translation="
MRLTRCWAALAAAIILNLLVFFYVSWLQHQPRNSRTRGPRRTSAIGPRVTVLIREFEAFDNAVPELVDSFLQLDPAQPVVVAADTLPYPPLALPRIPNVRLALLQPALDRSAAASRPETYVATEFVALVPDGARAESPGHLERMVEALRGSSARLVAAPVATTNPARCLALNVSLREWTARYGPAPSAPRCDALDGDAVLLMRSRDLFNLSVPLARPLATSLFLQTALRGWAVQLLDLTFASARQPPLATAHARWKAEREGRSRRAALLRSLGIRLVSWEGGRLEWFGCSKESPRCFGTVVGDTPAYLYEGRWTPPCCLRALRETARYVVGVLEAAGVRYWLEGGSLLGAARHGDIIPWDYDVDLGIYLEDVGNCEQLRGAEAGSVVDERGFVWEKAVEGDFFRVQYSESNHLHVDLWPFYPRNGVMTKDTWLDHRQDVEFPEHFLQPLVPLAFAGFMAQAPNNYRRFLELKFGPGVIENPEYPNPALLSLTGG"
     misc_feature    290..>580
                     /gene="Fkrp"
                     /note="bifunctional 2-C-methyl-D-erythritol 4-phosphate
                     cytidylyltransferase/2-C-methyl-D-erythritol
                     2,4-cyclodiphosphate synthase protein; Provisional;
                     Region: ispDF; PRK09382"
                     /db_xref="CDD:236492"
     misc_feature    1091..>1204
                     /gene="Fkrp"
                     /note="LicD family; Region: LicD; cl01378"
                     /db_xref="CDD:445379"
ORIGIN      
cccaggtggaaccactcttcttgatcaccctcagcctgaaacctagggaggatgccctggacgccctggctagggtctgacatcaggccccatgcggctcacccgctgctgggctgccctggcagcagccatcatcctcaacctcctagtcttcttctatgtgtcatggctacaacaccagcccagaaactcccggacccggggcccacgccgcacttctgccattggtccacgagtcactgtcctgattcgggaatttgaggcttttgacaacgcggtgccggagctagtggattccttcctgcagctggacccagcccagcctgtggtggtggccgccgacacactcccttacccacccctggccttgcctcgcattcccaacgttcgcctggccctgctccagccagctctggaccggtcagcggcggcctcgcgcccggagacatatgtagccacagagttcgtggccctggtgcctgatggagcgcgggccgagtcaccaggacatctggagcgaatggtggaggcgctccggggaagcagcgcgcgcctcgtagccgccccggtcgccactaccaacccagcgcggtgcctggcactgaacgtcagcttgagggagtggactgcgcgctacggcccagcgcccagcgcgccccgctgcgacgctttggatggcgacgcggtgctgctgatgcgctcccgcgacctcttcaacctctcggttcccctggcacggccgctggccaccagcctcttcctacagaccgccctgcgcggctgggcagtgcagttgctggatttgactttcgcctcggcgcgccagccccctctggccaccgcccacgcgcgctggaaggcggaacgcgaggggcgctcacggagggcggcgctgctgcgctctcttggtatccgcctggtgagctgggaaggcggacggctcgagtggtttggctgcagcaaggagagcccgcgctgcttcggtacggtagtgggcgacacacccgcctacctgtacgagggccgctggacaccaccttgctgcctgcgcgcactgcgggagactgcgcgctacgtggtgggcgtgctggaggcggcaggcgtgcgctactggttggagggcggctcgctgctgggtgcagcccgccatggcgacatcatcccgtgggactacgacgtagatctgggcatctacctggaggacgtgggcaactgcgaacagttgcggggcgcagaggctggctcggtagtggatgaacgaggcttcgtgtgggagaaggcggtggagggcgacttcttccgagtgcagtacagcgagagcaaccacctgcacgtggacctgtggcccttctacccacgcaatggggtcatgaccaaggacacatggctggaccaccggcaggatgttgagttcccagagcacttcctgcagccgctggtcccactggcctttgcgggtttcatggcacaggcccctaacaactaccgccgcttcctggagctcaagtttgggcctggggtcatcgagaacccggagtaccccaaccctgcactcttaagcttgacaggtggctgaagccctgatgcccgcatctggggccaagggaactgcagggtgcaggaatctgttctttgcctcgggttctgtacggatctgaaccagtttgtgattggacaatggggctgtgcactggaggggaaaaaaaaaacaaaacgggtgaactggccaaggaagattggaggaagcccacagaacaagtctgactttggcaggaagtagaacccaaagactggagcaacacataggctcttaagcctcgaggtggggctacgtgtaagccctcctagcccatcctcatgagggagaaaagtggtggcctttgatggaaaagcccagggatttgagtccagtcttcagggctctgcatagtctctgccctatattccaagagccgtgggcccttggaaagtgaggtccggagaacaaaccagccagcctccgtctaaccacagacaacttaggtagccccggaccagttagttacccagtctcagtttcatttgagatactgaatgcctccatttgtatttagggatcctcagtgcccttggcgctagtgcttccttcctccactagagggcgcgtctgtcccgcttttcatctttgataatcttgtccatccgatcccttgtctggtcgtgccccacccctcgcccccaggctctgcttcaccgccttcatctctggttttcttggagtggctctggaaggtgggaaagcactggccacctcccctcctcccttttaagagtgctgcttgatgtatctgcttcttctaaccccatcgtgctcttggaggattgaccaggctctggtttgggatctggccaatatattacctctttatttcagtcccctgcacctgttcctccccatcccccttccgggaagggataaacctttgccatagctcacagttacaaagagcttgctgggcccaggcatacacacggaagtgatagctgctattacatccatttatcagggagaaaaactgaggccaaaatgacagttaaccagatagtttaggaagtggccagtagaggacttgaattcaggtcacagtttcaaggccacacttcacttcctctttagatcctgttgtagaaatagtaccaaaatggagccttgcggtggccgtgccatttaaacaggtttaaaaaattctcatttcattatgcatataaattatgtcaaactgctactactggtatgtatattgttaaataaggcttaaattatgctactttaaagtttaaaaactcaagatgaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//

by @meso_cacase at DBCLS
This page is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

If you use GGRNA in your work, please cite:
Naito Y, Bono H. (2012)
GGRNA: an ultrafast, transcript-oriented search engine for genes and transcripts.
Nucleic Acids Res., 40, W592-W596. [Full Text]