Dysferlin (DYSF) (NM_001130986) Human Tagged ORF Clone

Specifications

Product Data
Type	Human Tagged ORF Clone
Tag	Myc-DDK
Synonyms	FER1L1; LGMD2B; LGMDR2; MMD1
Vector	pCMV6-Entry
E. coli Selection	Kanamycin (25 ug/mL)
Mammalian Cell Selection	Neomycin
Sequence Data	ORF Nucleotide Sequence (showhide) >RC226442 representing NM_001130986 Red=Cloning site Blue=ORF Green=Tags(s) TTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTGGATCCGGTACCGAGGAGATCTGCC GCCGCGATCGCC ATGCTGTGCTGCCTGCTGGTGAGGGCCAGCAACCTCCCCAGTGCGAAGAAGGACCGGCGCAGCGACCCTG TCGCAAGCCTGACTTTCCGAGGGGTGAAGAAGAGAACCAAAGTCATCAAGAACAGCGTGAACCCTGTATG GAATGAGGGATTTGAATGGGACCTCAAGGGCATCCCCCTGGACCAGGGCTCTGAGCTTCATGTGGTGGTC AAAGACCATGAGACGATGGGGAGGAACAGGTTCCTGGGGGAAGCCAAGGTCCCACTCCGAGAGGTCCTCG CCACCCCTAGTCTGTCCGCCAGCTTCAATGCCCCCCTGCTGGACACCAAGAAGCAGCCCACAGGGGCCTC GCTGGTCCTGCAGGTGTCCTACACACCGCTGCCTGGAGCTGTGCCCCTGTTCCCGCCCCCTACTCCTCTG GAGCCCTCCCCGACTCTGCCTGACCTGGATGTAGTGGCAGACACAGGAGGAGAGGAAGACACAGAGGACC AGGGACTCACTGGAGATGAGGCGGAGCCATTCCTGGATCAAAGCGGAGGCCCGGGGGCTCCCACCACCCC AAGGAAACTACCTTCACGTCCTCCGCCCCACTACCCCGGGATCAAAAGAAAGCGAAGTGCGCCTACATCT AGAAAGCTGCTGTCAGACAAACCGCAGGATTTCCAGATCAGGGTCCAGGTGATCGAGGGGCGCCAGCTGC CGGGGGTGAACATCAAGCCTGTGGTCAAGGTTACCGCTGCAGGGCAGACCAAGCGGACGCGGATCCACAA GGGAAACAGCCCACTCTTCAATGAGACTCTTTTCTTCAACTTGTTTGACTCTCCTGGGGAGCTGTTTGAT GAGCCCATCTTTATCACGGTGGTAGACTCTCGTTCTCTCAGGACAGATGCTCTCCTCGGGGAGTTCCGGA TGGACGTGGGCACCATTTACAGAGAGCCCCGGCACGCCTATCTCAGGAAGTGGCTGCTGCTCTCAGACCC TGATGACTTCTCTGCTGGGGCCAGAGGCTACCTGAAAACAAGCCTTTGTGTGCTGGGGCCTGGGGACGAA GCGCCTCTGGAGAGAAAAGACCCCTCTGAAGACAAGGAGGACATTGAAAGCAACCTGCTCCGGCCCACAG GCGTAGCCCTGCGAGGAGCCCACTTCTGCCTGAAGGTCTTCCGGGCCGAGGACTTGCCGCAGATGGACGA TGCCGTGATGGACAACGTGAAACAGATCTTTGGCTTCGAGAGTAACAAGAAGAACTTGGTGGACCCCTTT GTGGAGGTCAGCTTTGCGGGGAAAATGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGA ACCAGAACATCACACTGCCTGCCATGTTTCCCTCCATGTGCGAAAAAATGAGGATTCGTATCATAGACTG GGACCGCCTGACTCACAATGACATCGTGGCTACCACCTACCTGAGTATGTCGAAAATCTCTGCCCCTGGA GGAGAAATAGAAGTGGATGACTACCTGGGCTTCCTCCCCACTTTTGGGCCCTGCTACATCAACCTCTATG GCAGTCCCAGAGAGTTCACAGGCTTCCCAGACCCCTACACAGAGCTCAACACAGGCAAGGGGGAAGGTGT GGCTTATCGTGGCCGGCTTCTGCTCTCCCTGGAGACCAAGCTGGTGGAGCACAGTGAACAGAAGGTGGAG GACCTTCCTGCGGATGACATCCTCCGGGTGGAGAAGTACCTTAGGAGGCGCAAGTACTCCCTGTTTGCGG CCTTCTACTCAGCCACCATGCTGCAGGATGTGGATGATGCCATCCAGTTTGAGGTCAGCATCGGGAACTA CGGGAACAAGTTCGACATGACCTGCCTGCCGCTGGCCTCCACCACTCAGTACAGCCGTGCAGTCTTTGAC GGGTGCCACTACTACTACCTACCCTGGGGTAACGTGAAACCTGTGGTGGTGCTGTCATCCTACTGGGAGG ACATCAGCCATAGAATCGAGACTCAGAACCAGCTGCTTGGGATTGCTGACCGGCTGGAAGCTGGCCTGGA GCAGGTCCACCTGGCCCTGAAGGCGCAGTGCTCCACGGAGGACGTGGACTCGCTGGTGGCTCAGCTGACG GATGAGCTCATCGCAGGCTGCAGCCAGCCTCTGGGTGACATCCATGAGACACCCTCTGCCACCCACCTGG ACCAGTACCTGTACCAGCTGCGCACCCATCACCTGAGCCAAATCACTGAGGCTGCCCTGGCCCTGAAGCT CGGCCACAGTGAGCTCCCTGCAGCTCTGGAGCAGGCGGAGGACTGGCTCCTGCGTCTGCGTGCCCTGGCA GAGGAGCCCCAGAACAGCCTGCCGGACATCGTCATCTGGATGCTGCAGGGAGACAAGCGTGTGGCATACC AGCGGGTGCCCGCCCACCAAGTCCTCTTCTCCCGGCGGGGTGCCAACTACTGTGGCAAGAATTGTGGGAA GCTACAGACAATCTTTCTGAAATATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGG GTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTG TCTTTGCTGAAACCTATGAGAACGAGACTAAGTTGGCCCTTGTTGGGAACTGGGGCACAACGGGCCTCAC CTACCCCAAGTTTTCTGACGTCACGGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGC TGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACTCTGCTCCATGACATGGACGCCGGTCACC TGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGA CAACTACACCGATGTGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAG TGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGCTGGGAGTATAGCATCA CCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCG GCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGCACAGGCAGGCGGAG GCGGAGGGCGAGGGCTGGGAGTACGCCTCTCTTTTTGGCTGGAAGTTCCACCTCGAGTACCGCAAGACAG ATGCCTTCCGCCGCCGCCGCTGGCGCCGTCGCATGGAGCCACTGGAGAAGACGGGGCCTGCAGCTGTGTT TGCCCTTGAGGGGGCCCTGGGCGGCGTGATGGATGACAAGAGTGAAGATTCCATGTCCGTCTCCACCTTG AGCTTCGGTGTGAACAGACCCACGATTTCCTGCATATTCGACTATGGGAACCGCTACCATCTACGCTGCT ACATGTACCAGGCCCGGGACCTGGCTGCGATGGACAAGGACTCTTTTTCTGATCCCTATGCCATCGTCTC CTTCCTGCACCAGAGCCAGAAGACGGTGGTGGTGAAGAACACCCTTAACCCCACCTGGGACCAGACGCTC ATCTTCTACGAGATCGAGATCTTTGGCGAGCCGGCCACAGTTGCTGAGCAACCGCCCAGCATTGTGGTGG AGCTGTACGACCATGACACTTATGGTGCAGACGAGTTTATGGGTCGCTGCATCTGTCAACCGAGTCTGGA ACGGATGCCACGGCTGGCCTGGTTCCCACTGACGAGGGGCAGCCAGCCGTCGGGGGAGCTGCTGGCCTCT TTTGAGCTCATCCAGAGAGAGAAGCCGGCCATCCACCATATTCCTGGTTTTGAGGTGCAGGAGACATCAA GGATCCTGGATGAGTCTGAGGACACAGACCTGCCCTACCCACCACCCCAGAGGGAGGCCAACATCTACAT GGTTCCTCAGAACATCAAGCCAGCGCTCCAGCGTACCGCCATCGAGATCCTGGCATGGGGCCTGCGGAAC ATGAAGAGTTACCAGCTGGCCAACATCTCCTCCCCCAGCCTCGTGGTAGAGTGTGGGGGCCAGACGGTGC AGTCCTGTGTCATCAGGAACCTCCGGAAGAACCCCAACTTTGACATCTGCACCCTCTTCATGGAAGTGAT GCTGCCCAGGGAGGAGCTCTACTGCCCCCCCATCACCGTCAAGGTCATCGATAACCGCCAGTTTGGCCGC CGGCCTGTGGTGGGCCAGTGTACCATCCGCTCCCTGGAGAGCTTCCTGTGTGACCCCTACTCGGCGGAGA GTCCATCCCCACAGGGTGGCCCAGACGATGTGAGCCTACTCAGTCCTGGGGAAGACGTGCTCATCGACAT TGATGACAAGGAGCCCCTCATCCCCATCCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCC TCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTCTATGACA CACAGCTGGAGAATGTGGAGGCCTTTGAGGGCCTGTCTGACTTTTGTAACACCTTCAAGCTGTACCGGGG CAAGACGCAGGAGGAGACAGAAGATCCATCTGTGATTGGTGAATTTAAGGGCCTCTTCAAAATTTATCCC CTCCCAGAAGACCCAGCCATCCCCATGCCCCCAAGACAGTTCCACCAGCTGGCCGCCCAGGGACCCCAGG AGTGCTTGGTCCGTATCTACATTGTCCGAGCATTTGGCCTGCAGCCCAAGGACCCCAATGGAAAGTGTGA TCCTTACATCAAGATCTCCATAGGGAAGAAATCAGTGAGTGACCAGGATAACTACATCCCCTGCACGCTG GAGCCCGTATTTGGAAAGATGTTCGAGCTGACCTGCACTCTGCCTCTGGAGAAGGACCTAAAGATCACTC TCTATGACTATGACCTCCTCTCCAAGGACGAAAAGATCGGTGAGACGGTCGTCGACCTGGAGAACAGGCT GCTGTCCAAGTTTGGGGCTCGCTGTGGACTCCCACAGACCTACTGTGTCTCTGGACCGAACCAGTGGCGG GACCAGCTCCGCCCCTCCCAGCTCCTCCACCTCTTCTGCCAGCAGCATAGAGTCAAGGCACCTGTGTACC GGACAGACCGTGTAATGTTTCAGGATAAAGAATATTCCATTGAAGAGATAGAGGCTGGCAGGATCCCAAA CCCACACCTGGGCCCAGTGGAGGAGCGTCTGGCTCTGCATGTGCTTCAGCAGCAGGGCCTGGTCCCGGAG CACGTGGAGTCACGGCCCCTCTACAGCCCCCTGCAGCCAGACATCGAGCAGGGGAAGCTGCAGATGTGGG TCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAG GTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAG AAGATGAGCGACATTTATGTGAAAGGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGC ATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGC TGAGCAAGTCTGTACCATTGCCAAGAAGGATGCCTTCTGGAGGCTGGACAAGACTGAGAGCAAAATCCCA GCACGAGTGGTGTTCCAGATCTGGGACAATGACAAGTTCTCCTTTGATGATTTTCTGGGCTCCCTGCAGC TCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGGACCAGCTGGATGATGC TTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCA GAAGAGGGTGAGAAGAAAATACTGGCGGGCAAGCTGGAAATGACCTTGGAGATTGTAGCAGAGAGTGAGC ATGAGGAGCGGCCTGCTGGCCAGGGCCGGGATGAGCCCAACATGAACCCTAAGCTTGAGGACCCAAGGCG CCCCGACACCTCCTTCCTGTGGTTTACCTCCCCATACAAGACCATGAAGTTCATCCTGTGGCGGCGTTTC CGGTGGGCCATCATCCTCTTCATCATCCTCTTCATCCTGCTGCTGTTCCTGGCCATCTTCATCTACGCCT TCCCGAACTATGCTGCCATGAAGCTGGTGAAGCCCTTCAGC ACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCCTGGATT ACAAGGATGACGACGATAAGGTTTAA Protein Sequence (showhide) >RC226442 representing NM_001130986 Red=Cloning site Green=Tags(s) MLCCLLVRASNLPSAKKDRRSDPVASLTFRGVKKRTKVIKNSVNPVWNEGFEWDLKGIPLDQGSELHVVV KDHETMGRNRFLGEAKVPLREVLATPSLSASFNAPLLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPL EPSPTLPDLDVVADTGGEEDTEDQGLTGDEAEPFLDQSGGPGAPTTPRKLPSRPPPHYPGIKRKRSAPTS RKLLSDKPQDFQIRVQVIEGRQLPGVNIKPVVKVTAAGQTKRTRIHKGNSPLFNETLFFNLFDSPGELFD EPIFITVVDSRSLRTDALLGEFRMDVGTIYREPRHAYLRKWLLLSDPDDFSAGARGYLKTSLCVLGPGDE APLERKDPSEDKEDIESNLLRPTGVALRGAHFCLKVFRAEDLPQMDDAVMDNVKQIFGFESNKKNLVDPF VEVSFAGKMLCSKILEKTANPQWNQNITLPAMFPSMCEKMRIRIIDWDRLTHNDIVATTYLSMSKISAPG GEIEVDDYLGFLPTFGPCYINLYGSPREFTGFPDPYTELNTGKGEGVAYRGRLLLSLETKLVEHSEQKVE DLPADDILRVEKYLRRRKYSLFAAFYSATMLQDVDDAIQFEVSIGNYGNKFDMTCLPLASTTQYSRAVFD GCHYYYLPWGNVKPVVVLSSYWEDISHRIETQNQLLGIADRLEAGLEQVHLALKAQCSTEDVDSLVAQLT DELIAGCSQPLGDIHETPSATHLDQYLYQLRTHHLSQITEAALALKLGHSELPAALEQAEDWLLRLRALA EEPQNSLPDIVIWMLQGDKRVAYQRVPAHQVLFSRRGANYCGKNCGKLQTIFLKYPMEKVPGARMPVQIR VKLWFGLSVDEKEFNQFAEGKLSVFAETYENETKLALVGNWGTTGLTYPKFSDVTGKIKLPKDSFRPSAG WTWAGDWFVCPEKTLLHDMDAGHLSFVEEVFENQTRLPGGQWIYMSDNYTDVNGEKVLPKDDIECPLGWK WEDEEWSTDLNRAVDEQGWEYSITIPPERKPKHWVPAEKMYYTHRRRRWVRLRRRDLSQMEALKRHRQAE AEGEGWEYASLFGWKFHLEYRKTDAFRRRRWRRRMEPLEKTGPAAVFALEGALGGVMDDKSEDSMSVSTL SFGVNRPTISCIFDYGNRYHLRCYMYQARDLAAMDKDSFSDPYAIVSFLHQSQKTVVVKNTLNPTWDQTL IFYEIEIFGEPATVAEQPPSIVVELYDHDTYGADEFMGRCICQPSLERMPRLAWFPLTRGSQPSGELLAS FELIQREKPAIHHIPGFEVQETSRILDESEDTDLPYPPPQREANIYMVPQNIKPALQRTAIEILAWGLRN MKSYQLANISSPSLVVECGGQTVQSCVIRNLRKNPNFDICTLFMEVMLPREELYCPPITVKVIDNRQFGR RPVVGQCTIRSLESFLCDPYSAESPSPQGGPDDVSLLSPGEDVLIDIDDKEPLIPIQEEEFIDWWSKFFA SIGEREKCGSYLEKDFDTLKVYDTQLENVEAFEGLSDFCNTFKLYRGKTQEETEDPSVIGEFKGLFKIYP LPEDPAIPMPPRQFHQLAAQGPQECLVRIYIVRAFGLQPKDPNGKCDPYIKISIGKKSVSDQDNYIPCTL EPVFGKMFELTCTLPLEKDLKITLYDYDLLSKDEKIGETVVDLENRLLSKFGARCGLPQTYCVSGPNQWR DQLRPSQLLHLFCQQHRVKAPVYRTDRVMFQDKEYSIEEIEAGRIPNPHLGPVEERLALHVLQQQGLVPE HVESRPLYSPLQPDIEQGKLQMWVDLFPKALGRPGPPFNITPRRARRFFLRCIIWNTRDVILDDLSLTGE KMSDIYVKGWMIGFEEHKQKTDVHYRSLGGEGNFNWRFIFPFDYLPAEQVCTIAKKDAFWRLDKTESKIP ARVVFQIWDNDKFSFDDFLGSLQLDLNRMPKPAKTAKKCSLDQLDDAFHPEWFVSLFEQKTVKGWWPCVA EEGEKKILAGKLEMTLEIVAESEHEERPAGQGRDEPNMNPKLEDPRRPDTSFLWFTSPYKTMKFILWRRF RWAIILFIILFILLLFLAIFIYAFPNYAAMKLVKPFS TRTRPLEQKLISEEDLAANDILDYKDDDDKV
Restriction Sites	SgfI-MluI      Cloning Scheme for this gene      Plasmid Map
ACCN	NM_001130986
ORF Size	6201 bp
OTI Disclaimer	The molecular sequence of this clone aligns with the gene accession number as a point of reference only. However, individual transcript sequences of the same gene can differ through naturally occurring variations (e.g. polymorphisms), each with its own valid existence. This clone is substantially in agreement with the reference, but a complete review of all prevailing variants is recommended prior to use. More info
OTI Annotation	This clone was engineered to express the complete ORF with an expression tag. Expression varies depending on the nature of the gene.
Product Components	The ORF clone is ion-exchange column purified and shipped in a 2D barcoded Matrix tube containing 10ug of transfection-ready, dried plasmid DNA (reconstitute with 100 ul of water).
Reconstitution	1. Centrifuge at 5,000xg for 5min. 2. Carefully open the tube and add 100ul of sterile water to dissolve the DNA. 3. Close the tube and incubate for 10 minutes at room temperature. 4. Briefly vortex the tube and then do a quick spin (less than 5000xg) to concentrate the liquid at the bottom. 5. Store the suspended plasmid at -20°C. The DNA is stable for at least one year from date of shipping when stored at -20°C.
Reference Data
RefSeq	NM_001130986.2
RefSeq ORF	6204 bp
Locus ID	8291
UniProt ID	O75923
Protein Families	Transmembrane
MW	235.8 kDa
Gene Summary	The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]

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