LOCUS AJ314847 3332 bp mRNA linear HUM 07-OCT-2008
DEFINITION Homo sapiens mRNA for fukutin-related protein (FKRP gene).
ACCESSION AJ314847
VERSION AJ314847.1
KEYWORDS FKRP gene; fukutin-related protein.
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 3332)
AUTHORS Blake D.J.
JOURNAL Submitted (07-JUN-2001) to the INSDC. Blake D.J., Dept. of Human
Anatomy and Genetics, Oxford University, South Parks Road, Oxford,
OX1 3QX, UNITED KINGDOM.
REFERENCE 2
AUTHORS Brockington M., Yuva Y., Prandini P., Brown S.C., Torelli S.,
Benson M.A., Herrmann R., Anderson L.V.B., Bashir R.,
Burgunder J.M., Fallet S., Romero N., Fardeau M., Straub V.,
Storey G., Pollitt C., Richard I., Sewry C.A., Bushby K., Voit T.,
Blake D.J., 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
FEATURES Location/Qualifiers
source 1..3332
/db_xref="H-InvDB:HIT000247151"
/organism="Homo sapiens"
/chromosome="19"
/map="19q13.3"
/mol_type="mRNA"
/dev_stage="foetal"
/tissue_type="brain"
/db_xref="taxon:9606"
CDS 286..1773
/gene="FKRP"
/product="fukutin-related protein"
/function="protein modification"
/db_xref="GOA:Q9H9S5"
/db_xref="H-InvDB:HIT000247151.14"
/db_xref="HGNC:HGNC:17997"
/db_xref="InterPro:IPR007074"
/db_xref="UniProtKB/Swiss-Prot:Q9H9S5"
/protein_id="CAC85633.1"
/translation="MRLTRCQAALAAAITLNLLVLFYVSWLQHQPRNSRARGPRRASA
AGPRVTVLVREFEAFDNAVPELVDSFLQQDPAQPVVVAADTLPYPPLALPRIPNVRLA
LLQPALDRPAAASRPETYVATEFVALVPDGARAEAPGLLERMVEALRAGSARLVAAPV
ATANPARCLALNVSLREWTARYGAAPAAPRCDALDGDAVVLLRARDLFNLSAPLARPV
GTSLFLQTALRGWAVQLLDLTFAAARQPPLATAHARWKAEREGRARRAALLRALGIRL
VSWEGGRLEWFGCNKETTRCFGTVVGDTPAYLYEERWTPPCCLRALRETARYVVGVLE
AAGVRYWLEGGSLLGAARHGDIIPWDYDVDLGIYLEDVGNCEQLRGAEAGSVVDERGF
VWEKAVEGDFFRVQYSESNHLHVDLWPFYPRNGVMTKDTWLDHRQDVEFPEHFLQPLV
PLPFAGFVAQAPNNYRRFLELKFGPGVIENPQYPNPALLSLTGSG"
BASE COUNT 636 a 1022 c 1024 g 649 t
ORIGIN
1 attgctccaa gatggcggcg gcggcggcag cgggagcgca gctcagctgg gctggaactg
61 ccctcctgga actcccccag cctacaacct aggaggtgca gggactgagg ctcaggccaa
121 atcgcaactc agacccagtg aacccaaggc ctgaagagaa tttggattca tttaccttgt
181 tttgtgggga ctggagagac aagtaaactc tcagagtaac tgtcccctct gactaccatt
241 tctaaggatg ccccggaggc ccagctagcc ccagacttcg gccccatgcg gctcacccgc
301 tgccaggctg ccctggcggc cgccatcacc ctcaaccttc tggtcctctt ctatgtctcg
361 tggctgcagc accagcctag gaattcccgg gcccgggggc cccgtcgtgc ctctgctgcc
421 ggcccccgtg tcaccgtcct ggtgcgggag ttcgaggcat ttgacaacgc ggtgcccgag
481 ctggtagact ccttcctgca gcaagaccca gcccagcccg tggtggtggc agccgacacg
541 ctcccctacc cgcccctggc cctgccccgc atccccaacg tgcgtctggc gctgctccag
601 cccgccctgg accggccagc cgcagcctcg cgcccggaga cctacgtggc caccgagttt
661 gtggccctag tacctgatgg ggcgcgggct gaggcacctg gcctgctgga gcgcatggtg
721 gaggcgctcc gcgcaggaag cgcacgtctg gtggccgccc cggttgccac ggccaaccct
781 gccaggtgcc tggccctgaa cgtcagcctg cgagagtgga ccgcccgcta tggcgcagcc
841 cccgccgcgc cccgctgcga cgccctggac ggagatgctg tggtgctcct gcgcgcccgc
901 gacctcttca acctctcggc gcccctggcc cggccggtgg gcaccagcct ctttctgcag
961 accgcccttc gcggctgggc ggtgcagctg ctggacttga ccttcgccgc ggcgcgccag
1021 cccccgctgg ccacggccca cgcgcgctgg aaggctgagc gcgagggacg cgctcggcgg
1081 gcggcgctgc tccgcgcgct gggcatccgc ctagtgagct gggaaggcgg gcggctggag
1141 tggttcggct gcaacaagga gaccacgcgc tgcttcggaa ccgtggtggg cgacacgccc
1201 gcctacctct acgaggagcg ctggacgccc ccctgctgcc tgcgcgcgct gcgcgagacc
1261 gcccgctatg tggtgggcgt gctggaggct gcgggcgtgc gctactggct cgagggcggc
1321 tcactgctgg gggccgcccg ccacggggac atcatcccat gggactacga cgtggacctg
1381 ggcatctact tggaggacgt gggcaactgc gagcagctgc ggggggcaga ggccggctcg
1441 gtggtggatg agcgcggctt cgtatgggag aaggcggtcg agggcgactt tttccgcgtg
1501 cagtacagcg aaagcaacca cttgcacgtg gacctgtggc ccttctaccc ccgcaatggc
1561 gtcatgacca aggacacgtg gctggaccac cggcaggatg tggagtttcc cgagcacttc
1621 ctgcagccgc tggtgcccct gccctttgcc ggcttcgtgg cgcaggcgcc taacaactac
1681 cgccgcttcc tggagctcaa gttcgggccc ggggtcatcg agaaccccca gtaccccaac
1741 ccggcactgc tgagtctgac gggaagcggc tgaagccctg ataacctcgc ctttgttttt
1801 cgggggtctg tctggatgtg gagaagctct gtgtgagcgg tgaggggtgg agggatgtcg
1861 cggagagggg aagggggaaa ctgaccaaga aagaaattct aaggagagca tgagagaagg
1921 ctggcattgg caggaggaga gcaccaggac gaggatggga agcgacctcc agatttatca
1981 aatggtcatg cccactggga gccgtggata tgcgtgggga catcctgggt catctcagtc
2041 atggagggag acggggatgt cacgccgtcc cgcagggccc agcacagccc cagacccgaa
2101 aaaagtgttc tgcccaagat tccgagagcc ctgcgctcta gggcaggggc agagttttgg
2161 aaacagtgca ggctctggag ccagactggc gagattcaaa tcctggctct atcgcttcgg
2221 agccaggtgg gcctgggggg gcgtcgcagt ctctctgtgc ctcagttgct tccaggatgc
2281 gggacccttg gctgcagggg ttgcttccgc cactagaggg cgcgccggtc ccgctcctgg
2341 tggcccactg tggctgcccg ggcgacagta cgcccagggc ctgtgttcca tagccatcta
2401 ctctcttgag cctttggact tctctccaag cccctgtggg aggcggacag cagtgaccac
2461 ctccccttct tttggactgc gacctccttc cctcctggga gagccctgtg acctgcatgc
2521 tactcttaac tgttctattc aagactgaat agaagtattt cagtcttgca gaggaggaaa
2581 tgctcagagc tccgaggtgc ggctgtggtc gagaaccggg tgctgggccg ggcgcggggg
2641 ctcacgcctg taatcccagc actttgggag gccgaggtgg gaggatcgct tgagcccagg
2701 agtctgagac cagcctcggc aacatgccaa gaccccgtct ctatttttaa aaaagaaaaa
2761 gaaccgactt ctgaatcgca gctccactca tgactaatac ctcattattt cagctgtctg
2821 cacctaattc cccacttgca cggcagtgta gacaataacc atagctcaca ctcactgagc
2881 acctactggg taccaggcac cattctcagt gtttcacctg gatcaactaa tgcgtccctc
2941 acctcagccc tntgaagtga cagctgctat tattttcatt acacagatga aaaagctgag
3001 gccagaatcg tgaagtcact tgctcaaggt caggcagctt aggaaggggc agatcggggg
3061 cttgaaccca ggtggtcagg ctctggagcc cacaattgtc ttacccacta tgcccctctc
3121 tagtcatggt ccccaagagg ggcttggaga cccacttagc aggtgaaagc aatggcagcc
3181 ttccttattt gattatgcac ctaagaataa atggtatttg ggcatgtatt cccaatatgt
3241 gtatatttat ttataaatat atacagatac tattatctgt atgttagtaa taaagcttaa
3301 attattccat tttaaaaaaa aaaaaaaaaa aa
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