2024-05-06 12:46:25, 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
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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.
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