LOCUS AJ007670 5646 bp mRNA linear HUM 14-NOV-2006
DEFINITION Homo sapiens mRNA for LGMD2B protein.
ACCESSION AJ007670
VERSION AJ007670.1
KEYWORDS LGMD 2B 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 5646)
AUTHORS Britton S.A.
JOURNAL Submitted (13-JUL-1998) to the INSDC. Britton S.A., Human Molecular
Genetics, University of Newcastle Upon Tyne, Ridley Building,
Claremont Place., NE1 7RU, UK.
REFERENCE 2
AUTHORS Bashir R., Britton S., Strachan T., Keers S., Vafiadaki E.,
Lako M., Richard I., Marchand S., Bourg N., Argov Z., Sadeh M.,
Mahjneh I., Marconi G., Passos-Bueno M.R., de S Moreira E.,
Zatz M., Beckmann J., Bushby K.
TITLE A gene related to Caenorhabditis elegans spermatogenesis factor
fer-1 is mutated in limb-girdle muscular dystrophy type 2B
JOURNAL Nat Genet 20(1), 37-42(1998).
PUBMED 9731527
COMMENT incorrectly cited as AJ00760 in [2]
FEATURES Location/Qualifiers
source 1..5646
/db_xref="H-InvDB:HIT000244167"
/organism="Homo sapiens"
/chromosome="2"
/map="p13"
/mol_type="mRNA"
/tissue_type="muscle"
/db_xref="taxon:9606"
CDS <1..4243
/codon_start=2
/gene="LGMD2B"
/product="LGMD2B protein"
/db_xref="GOA:O75923"
/db_xref="H-InvDB:HIT000244167.14"
/db_xref="HGNC:HGNC:3097"
/db_xref="InterPro:IPR000008"
/db_xref="InterPro:IPR006614"
/db_xref="InterPro:IPR012560"
/db_xref="InterPro:IPR012561"
/db_xref="InterPro:IPR012968"
/db_xref="InterPro:IPR029998"
/db_xref="InterPro:IPR032362"
/db_xref="InterPro:IPR035892"
/db_xref="InterPro:IPR037720"
/db_xref="InterPro:IPR037721"
/db_xref="InterPro:IPR037722"
/db_xref="InterPro:IPR037723"
/db_xref="InterPro:IPR037724"
/db_xref="InterPro:IPR037725"
/db_xref="InterPro:IPR037726"
/db_xref="PDB:4CAH"
/db_xref="PDB:4CAI"
/db_xref="PDB:4IHB"
/db_xref="PDB:4IQH"
/db_xref="UniProtKB/Swiss-Prot:O75923"
/protein_id="CAA07603.1"
/translation="XEWAREQKVEDLPADDILRVEKYLRRRKYSLFAAFYSATMLQDV
DDAIQFEVSIGNYGNKFDMTCLPLASTTQYSRAVFDGCHYYYLPWGNVKPVVVLSSYW
EDISHRIETQNQLLGIADRLEAGLEQVHLALKAQCSTEDVDSLVAQLTDELIAGCSQP
LGDIHETPSATHLDQYLYQLRTHHLSQITEAALALKLGHSELPAALEQAEDWLLRLRA
LAEEPQNSLPDIVIWMLQGDKRVAYQRVPAHQVLFSRRGANYCGKNCGKLQTIFLKYP
MEKVPGARMPVQIRVKLWFGLSVDEKEFNQFAEGKLSVFAETYENETKLALVGNWGTT
GLTYPKFSDVTGKIKLPKDSFRPSAGWTWAGDWFVCPEKTLLHDMDAGHLSFVEEVFE
NQTRLPGGQWIYMSDNYTDVNGEKVLPKDDIECPLGWKWEDEEWSTDLNRAVDEQGWE
YSITIPPERKPKHWVPAEKMYYTHRRRRWVRLRRRDLSQMEALKRHRQAEAEGEGWEY
ASLFGWKFHLEYRKTDAFRRRRWRRRMEPLEKTGPAAVFALEGALGGVMDDKSEDSMS
VSTLSFGVNRPTISCIFDYGNRYHLRCYMYQARDLAAMDKDSFSDPYAIVSFLHQSQK
TVVVKNTLNPTWDQTLIFYEIEIFGEPATVAEQPPSIVVELYDHDTYGADEFMGRCIC
QPSLERMPRLAWFPLTRGSQPSGELLASFELIQREKPAIHHIPGFEVQETSRILDESE
DTDLPYPPPQREANIYMVPQNIKPALQRTAIEILAWGLRNMKSYQLANISSPSLVVEC
GGQTVQSCVIRNLRKNPNFDICTLFMEVMLPREELYCPPITVKVIDNRQFGRRPVVGQ
CTIRSLESFLCDPYSAESPSPQGGPDDVSLLSPGEDVLIDIDDKEPLIPIQEEEFIDW
WSKFFASIGEREKCGSYLEKDFDTLKVYDTQLENVEAFEGLSDFCNTFKLYRGKTQEE
TEDPSVIGEFKGLFKIYPLPEDPAIPMPPRQFHQLAAQGPQECLVRIYIVRAFGLQPK
DPNGKCDPYIKISIGKKSVSDQDNYIPCTLEPVFGKMFELTCTLPLEKDLKITLYDYD
LLSKDEKIGETVVDLENRLLSKFGARCGLPQTYCVSGPNQWRDQLRPSQLLHLFCQQH
RVKAPVYRTDRVMFQDKEYSIEEIEAGRIPNPHLGPVEERLALHVLQQQGLVPEHVES
RPLYSPXQPDIEQGKLQMWVDLFPKALGRPGPPFNITPRRARRFFLRCIIWNTRDVIL
DDLSLTGEKMSDIYVKGWMIGFEEHKQKTDVHYRSLGGEGNFNWRFIFPFDYLPAEQV
CTIAKKDAFWRLDKTESKIPARVVFQIWDNDKFSFDDFLGSLQLDLNRMPKPAKTAKK
CSLDQLDDAFHPEWFVSLFEQKTVKGWWPCCSRRG"
variation 3183..3189
/replace="acccct"
variation 3350..3372
/note="sequence is duplicated"
3'UTR 4555..4826
/citation=[2]
regulatory 4798
/gene="LGMD2B"
/regulatory_class="polyA_signal_sequence"
BASE COUNT 1242 a 1586 c 1572 g 1199 t
ORIGIN
1 gkkagagtgg gccagggaac agaaggtgga ggaccttcct gcggatgaca tcctccgggt
61 ggagaagtac cttaggaggc gcaagtactc cctgtttgcg gccttctact cagccaccat
121 gctgcaggat gtggatgacg ccatccagtt tgaggtcagc atcgggaact acgggaacaa
181 gttcgacatg acctgcctgc cgctggcctc caccactcag tacagccgtg cagtctttga
241 cgggtgccac tactactacc taccctgggg taacgtgaaa cctgtggtgg tgctgtcatc
301 ctactgggag gacatcagcc atagaatcga gactcagaac cagctgcttg ggattgctga
361 ccggctggaa gctggcctgg agcaggtcca cctggccctg aaggcgcagt gctccacgga
421 ggacgtggac tcgctggtgg ctcagctgac ggatgagctc atcgcaggct gcagccagcc
481 tctgggtgac atccatgaga caccctctgc cacccacctg gaccagtacc tgtaccagct
541 gcgcacccat cacctgagcc aaatcactga ggctgccctg gccctgaagc tcggccacag
601 tgagctccct gcagctctgg agcaggcgga ggactggctc ctgcgtctgc gtgccctggc
661 agaggagccc cagaacagcc tgccggacat cgtcatctgg atgctgcagg gagacaagcg
721 tgtggcatac cagcgggtgc ccgcccacca agtcctcttc tcccggcggg gtgccaacta
781 ctgtggcaag aattgtggga agctacagac aatctttctg aaatatccga tggagaaggt
841 gcctggcgcc cggatgccag tgcagatacg ggtcaagctg tggtttgggc tctctgtgga
901 tgagaaggag ttcaaccagt ttgctgaggg gaagctgtct gtctttgctg aaacctatga
961 gaacgagact aagttggccc ttgttgggaa ctggggcaca acgggcctca cctaccccaa
1021 gttttctgac gtcacgggca agatcaagct acccaaggac agcttccgcc cctcggccgg
1081 ctggacctgg gctggagatt ggttcgtgtg tccggagaag actctgctcc atgacatgga
1141 cgccggtcac ctgagcttcg tggaagaggt gtttgagaac cagacccggc ttcccggagg
1201 ccagtggatc tacatgagtg acaactacac cgatgtgaac ggggagaagg tgcttcccaa
1261 ggatgacatt gagtgcccac tgggctggaa gtgggaagat gaggaatggt ccacagacct
1321 caaccgggct gtcgatgagc aaggctggga gtatagcatc accatccccc cggagcggaa
1381 gccgaagcac tgggtccctg ctgagaagat gtactacaca caccgacggc ggcgctgggt
1441 gcgcctgcgc aggagggatc tcagccaaat ggaagcactg aaaaggcaca ggcaggcgga
1501 ggcggagggc gagggctggg agtacgcctc tctttttggc tggaagttcc acctcgagta
1561 ccgcaagaca gatgccttcc gccgccgccg ctggcgccgt cgcatggagc cactggagaa
1621 gacggggcct gcagctgtgt ttgcccttga gggggccctg ggcggcgtga tggatgacaa
1681 gagtgaagat tccatgtccg tctccacctt gagcttcggt gtgaacagac ccacgatttc
1741 ctgcatattc gactatggga accgctacca tctacgctgc tacatgtacc aggcccggga
1801 cctggctgcg atggacaagg actctttttc tgatccctat gccatcgtct ccttcctgca
1861 ccagagccag aagacggtgg tggtgaagaa cacccttaac cccacctggg accagacgct
1921 catcttctac gagatcgaga tctttggcga gccggccaca gttgctgagc aaccgcccag
1981 cattgtggtg gagctgtacg accatgacac ttatggtgca gacgagttta tgggtcgctg
2041 catctgtcaa ccgagtctgg aacggatgcc acggctggcc tggttcccac tgacgagggg
2101 cagccagccg tcgggggagc tgctggcctc ttttgagctc atccagagag agaagccggc
2161 catccaccat attcctggtt ttgaggtgca ggagacatca aggatcctgg atgagtctga
2221 ggacacagac ctgccctacc caccacccca gagggaggcc aacatctaca tggttcctca
2281 gaacatcaag ccagcgctcc agcgtaccgc catcgagata ctggcatggg gcctgcggaa
2341 catgaagagt taccagctgg ccaacatctc ctcccccagc ctcgtggtag agtgtggggg
2401 ccagacggtg cagtcctgtg tcatcaggaa cctccggaag aaccccaact ttgacatctg
2461 caccctcttc atggaagtga tgctgcccag ggaggagctc tactgccccc ccatcaccgt
2521 caaggtcatc gataaccgcc agtttggccg ccggcctgtg gtgggccagt gtaccatccg
2581 ctccctggag agcttcctgt gtgaccccta ctcggcggag agtccatccc cacagggtgg
2641 cccagacgat gtgagcctac tcagtcctgg ggaagacgtg ctcatcgaca ttgatgacaa
2701 ggagcccctc atccccatcc aggaggaaga gttcatcgat tggtggagca aattctttgc
2761 ctccataggg gagagggaaa agtgcggctc ctacctggag aaggattttg acaccctgaa
2821 ggtctatgac acacagctgg agaatgtgga ggcctttgag ggcctgtctg acttttgtaa
2881 caccttcaag ctgtaccggg gcaagacgca ggaggagaca gaagatccat ctgtgattgg
2941 tgaatttaag ggcctcttca aaatttatcc cctcccagaa gacccagcca tccccatgcc
3001 cccaagacag ttccaccagc tggccgccca gggaccccag gagtgcttgg tccgtatcta
3061 cattgtccga gcatttggcc tgcagcccaa ggaccccaat ggaaagtgtg atccttacat
3121 caagatctcc atagggaaga aatcagtgag tgaccaggat aactacatcc cctgcacgct
3181 ggagcccgta tttggaaaga tgttcgagct gacctgcact ctgcctctgg agaaggacct
3241 aaagatcact ctctatgact atgacctcct ctccaaggac gaaaagatcg gtgagacggt
3301 cgtcgacctg gagaacaggc tgctgtccaa gtttggggct cgctgtggac tcccacagac
3361 ctactgtgtc tctggaccga accagtggcg ggaccagctc cgcccctccc agctcctcca
3421 cctcttctgc cagcagcata gagtcaaggc acctgtgtac cggacagacc gtgtaatgtt
3481 tcaggataaa gaatattcca ttgaagagat agaggctggc aggatcccaa acccacacct
3541 gggcccagtg gaggagcgtc tggctctgca tgtgcttcag cagcagggcc tggtcccgga
3601 gcacgtggag tcacggcccc tstacagccc cstgcagcca gacatcgagc aggggaagct
3661 gcagatgtgg gtcgacctat ttccgaaggc cctggggcgg cctggacctc ccttcaacat
3721 caccccacgg agagccagaa ggtttttcct gcgttgtatt atctggaata ccagagatgt
3781 gatcctggat gacctgagcc tcacggggga gaagatgagc gacatttatg tgaaaggttg
3841 gatgattggc tttgaagaac acaagcaaaa gacagacgtg cattatcgtt ccctgggagg
3901 tgaaggcaac ttcaactgga ggttcatttt ccccttcgac tacctgccag ctgagcaagt
3961 ctgtaccatt gccaagaagg atgccttctg gaggctggac aagactgaga gcaaaatccc
4021 agcacgagtg gtgttccaga tctgggacaa tgacaagttc tcctttgatg attttctggg
4081 ctccctgcag ctcgatctca accgcatgcc caagccagcc aagacagcca agaagtgctc
4141 cttggaccag ctggatgatg ctttccaccc agaatggttt gtgtcccttt ttgagcagaa
4201 aacagtgaag ggctggtggc cctgttgtag cagaagaggg tgagaagaaa atactggcgg
4261 gcaagctgga aatgaccttg gagattgtag cagagagtga gcatgaggag cggcctgctg
4321 gccagggccg ggatgagccc aacatgaacc ctaagcttga ggacccaagg cgccccgaca
4381 cctccttcct gtggtttacc tccccataca agaccatgaa gttcatcctg tggcggcgtt
4441 tccggtgggc catcatcctc ttcatcatcc tcttcatcct gctgctgttc ctggccatct
4501 tcatctacgc cttcccgaac tatgctgcca tgaagctggt gaagcccttc agctgaggac
4561 tctcctgccc tgtagaaggg gccgtggggt cccctccagc atgggactgg cctgcctcct
4621 ccgcccagct cggcgagctc ctccagacct cctaggcctg attgtcctgc cagggtgggc
4681 agacagacag atggaccggc ccacactccc agagttgcta acatggagct ctgagatcac
4741 cccacttcca tcatttcctt ctcccccaac ccaacgcttt tttggatcag ctcagacata
4801 tttcagtata aaacagttgg aaccacaaaa aaaaaaaaaa aaaactcgac ggccaagtcg
4861 gcctcccttt agtgagggtt aatttgtgat cccgggtggc atccctgtga cccctcccca
4921 gtgcctctcc tggccctgga agttgccact ccagtgccca ccagccttgt cctaataaaa
4981 ttaagttgca tcattttgtc tgactaggtg tccttctata atattatggg gtggaggggg
5041 gtggtatgga gcaaggggca agttgggaag acaacctgta gggcctgcgg ggtctattgg
5101 gaaccaagct ggagtgcagt ggcacaatct tggctcactg caatctccgc ctnctgggtt
5161 caagcgattc tcctgcctca gcctcccgag ttgttgggat tccaggcatg catgaccagg
5221 ctcagctaat ttttgttttt ttggtagana cggggtttca ccatattggc caggctggtc
5281 tccaactcct aatctcaggt gatctaccca ccttggcctc ccaaattgct gggtattaca
5341 ggcgtgaaac cactgnttcc cttcctgntc ttctgatttt aaaataactt tttccancng
5401 ggaggacgtc cngacncaag cntaaggcta ccctggccat gcccaaccng nnggaacatt
5461 ttganttggc ttgcttnggc actgtncctn tttatgccnt nggggtccnc ttcacttana
5521 tgccntnntg gaaattnggg ntcccccggc ncacntttgg nttnngggaa tgtngtgntn
5581 nanttttngg tngttggaaa agatncccca tgnttctcca aaaatgccnn aaattttntc
5641 acancg
//