Dysferlin (DYSF) (NM_001130983) 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) >RC226452 representing NM_001130983 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 GGAGAAATAGAAGAGGAGCCTGCAGGTGCTGTCAAGCCTTCGAAAGCCTCAGACTTGGATGACTACCTGG GCTTCCTCCCCACTTTTGGGCCCTGCTACATCAACCTCTATGGCAGTCCCAGAGAGTTCACAGGCTTCCC AGACCCCTACACAGAGCTCAACACAGGCAAGGGGGAAGGTGTGGCTTATCGTGGCCGGCTTCTGCTCTCC CTGGAGACCAAGCTGGTGGAGCACAGTGAACAGAAGGTGGAGGACCTTCCTGCGGATGACATCCTCCGGG TGGAGAAGTACCTTAGGAGGCGCAAGTACTCCCTGTTTGCGGCCTTCTACTCAGCCACCATGCTGCAGGA TGTGGATGATGCCATCCAGTTTGAGGTCAGCATCGGGAACTACGGGAACAAGTTCGACATGACCTGCCTG CCGCTGGCCTCCACCACTCAGTACAGCCGTGCAGTCTTTGACGGGTGCCACTACTACTACCTACCCTGGG GTAACGTGAAACCTGTGGTGGTGCTGTCATCCTACTGGGAGGACATCAGCCATAGAATCGAGACTCAGAA CCAGCTGCTTGGGATTGCTGACCGGCTGGAAGCTGGCCTGGAGCAGGTCCACCTGGCCCTGAAGGCGCAG TGCTCCACGGAGGACGTGGACTCGCTGGTGGCTCAGCTGACGGATGAGCTCATCGCAGGCTGCAGCCAGC CTCTGGGTGACATCCATGAGACACCCTCTGCCACCCACCTGGACCAGTACCTGTACCAGCTGCGCACCCA TCACCTGAGCCAAATCACTGAGGCTGCCCTGGCCCTGAAGCTCGGCCACAGTGAGCTCCCTGCAGCTCTG GAGCAGGCGGAGGACTGGCTCCTGCGTCTGCGTGCCCTGGCAGAGGAGCCCCAGAACAGCCTGCCGGACA TCGTCATCTGGATGCTGCAGGGAGACAAGCGTGTGGCATACCAGCGGGTGCCCGCCCACCAAGTCCTCTT CTCCCGGCGGGGTGCCAACTACTGTGGCAAGAATTGTGGGAAGCTACAGACAATCTTTCTGAAATATCCG ATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGG ATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCTATGAGAACGAGAC TAAGTTGGCCCTTGTTGGGAACTGGGGCACAACGGGCCTCACCTACCCCAAGTTTTCTGACGTCACGGGC AAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGT GTCCGGAGAAGACTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAA CCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGAACGGGGAGAAG GTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACC TCAACCGGGCTGTCGATGAGCAAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCA CTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGAT CTCAGCCAAATGGAAGCACTGAAAAGGCACAGGCAGGCGGAGGCGGAGGGCGAGGGCTGGGAGTACGCCT CTCTTTTTGGCTGGAAGTTCCACCTCGAGTACCGCAAGACAGATGCCTTCCGCCGCCGCCGCTGGCGCCG TCGCATGGAGCCACTGGAGAAGACGGGGCCTGCAGCTGTGTTTGCCCTTGAGGGGGCCCTGGGCGGCGTG ATGGATGACAAGAGTGAAGATTCCATGTCCGTCTCCACCTTGAGCTTCGGTGTGAACAGACCCACGATTT CCTGCATATTCGACTATGGGAACCGCTACCATCTACGCTGCTACATGTACCAGGCCCGGGACCTGGCTGC GATGGACAAGGACTCTTTTTCTGATCCCTATGCCATCGTCTCCTTCCTGCACCAGAGCCAGAAGACGGTG GTGGTGAAGAACACCCTTAACCCCACCTGGGACCAGACGCTCATCTTCTACGAGATCGAGATCTTTGGCG AGCCGGCCACAGTTGCTGAGCAACCGCCCAGCATTGTGGTGGAGCTGTACGACCATGACACTTATGGTGC AGACGAGTTTATGGGTCGCTGCATCTGTCAACCGAGTCTGGAACGGATGCCACGGCTGGCCTGGTTCCCA CTGACGAGGGGCAGCCAGCCGTCGGGGGAGCTGCTGGCCTCTTTTGAGCTCATCCAGAGAGAGAAGCCGG CCATCCACCATATTCCTGGTTTTGAGGTGCAGGAGACATCAAGGATCCTGGATGAGTCTGAGGACACAGA CCTGCCCTACCCACCACCCCAGAGGGAGGCCAACATCTACATGGTTCCTCAGAACATCAAGCCAGCGCTC CAGCGTACCGCCATCGAGATCCTGGCATGGGGCCTGCGGAACATGAAGAGTTACCAGCTGGCCAACATCT CCTCCCCCAGCCTCGTGGTAGAGTGTGGGGGCCAGACGGTGCAGTCCTGTGTCATCAGGAACCTCCGGAA GAACCCCAACTTTGACATCTGCACCCTCTTCATGGAAGTGATGCTGCCCAGGGAGGAGCTCTACTGCCCC CCCATCACCGTCAAGGTCATCGATAACCGCCAGTTTGGCCGCCGGCCTGTGGTGGGCCAGTGTACCATCC GCTCCCTGGAGAGCTTCCTGTGTGACCCCTACTCGGCGGAGAGTCCATCCCCACAGGGTGGCCCAGACGA TGTGAGCCTACTCAGTCCTGGGGAAGACGTGCTCATCGACATTGATGACAAGGAGCCCCTCATCCCCATC CAGCTTGCAGACGGTCTGTCGAGCTTGGCCCCCACTAACACGGCTTCTCCTCCATCCAGTCCTCATGAGG AAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCT GGAGAAGGATTTTGACACCCTGAAGGTCTATGACACACAGCTGGAGAATGTGGAGGCCTTTGAGGGCCTG TCTGACTTTTGTAACACCTTCAAGCTGTACCGGGGCAAGACGCAGGAGGAGACAGAAGATCCATCTGTGA TTGGTGAATTTAAGGGCCTCTTCAAAATTTATCCCCTCCCAGAAGACCCAGCCATCCCCATGCCCCCAAG ACAGTTCCACCAGCTGGCCGCCCAGGGACCCCAGGAGTGCTTGGTCCGTATCTACATTGTCCGAGCATTT GGCCTGCAGCCCAAGGACCCCAATGGAAAGTGTGATCCTTACATCAAGATCTCCATAGGGAAGAAATCAG TGAGTGACCAGGATAACTACATCCCCTGCACGCTGGAGCCCGTATTTGGAAAGATGTTCGAGCTGACCTG CACTCTGCCTCTGGAGAAGGACCTAAAGATCACTCTCTATGACTATGACCTCCTCTCCAAGGACGAAAAG ATCGGTGAGACGGTCGTCGACCTGGAGAACAGGCTGCTGTCCAAGTTTGGGGCTCGCTGTGGACTCCCAC AGACCTACTGTGTCTCTGGACCGAACCAGTGGCGGGACCAGCTCCGCCCCTCCCAGCTCCTCCACCTCTT CTGCCAGCAGCATAGAGTCAAGGCACCTGTGTACCGGACAGACCGTGTAATGTTTCAGGATAAAGAATAT TCCATTGAAGAGATAGAGGCTGGCAGGATCCCAAACCCACACCTGGGCCCAGTGGAGGAGCGTCTGGCTC TGCATGTGCTTCAGCAGCAGGGCCTGGTCCCGGAGCACGTGGAGTCACGGCCCCTCTACAGCCCCCTGCA GCCAGACATCGAGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGA CCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAG ATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGTTGGATGAT TGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAAC TGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGATGCCT TCTGGAGGCTGGACAAGACTGAGAGCAAAATCCCAGCACGAGTGGTGTTCCAGATCTGGGACAATGACAA GTTCTCCTTTGATGATTTTCTGGGCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACA GCCAAGAAGTGCTCCTTGGACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGC AGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATACTGGCGGGCAAGCT GGAAATGACCTTGGAGATTGTAGCAGAGAGTGAGCATGAGGAGCGGCCTGCTGGCCAGGGCCGGGATGAG CCCAACATGAACCCTAAGCTTGAGGACCCAAGGCGCCCCGACACCTCCTTCCTGTGGTTTACCTCCCCAT ACAAGACCATGAAGTTCATCCTGTGGCGGCGTTTCCGGTGGGCCATCATCCTCTTCATCATCCTCTTCAT CCTGCTGCTGTTCCTGGCCATCTTCATCTACGCCTTCCCGAACTATGCTGCCATGAAGCTGGTGAAGCCC TTCAGC ACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCCTGGATT ACAAGGATGACGACGATAAGGTTTAA Protein Sequence (showhide) >RC226452 representing NM_001130983 Red=Cloning site Green=Tags(s) MLCCLLVRASNLPSAKKDRRSDPVASLTFRGVKKRTKVIKNSVNPVWNEGFEWDLKGIPLDQGSELHVVV KDHETMGRNRFLGEAKVPLREVLATPSLSASFNAPLLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPL EPSPTLPDLDVVADTGGEEDTEDQGLTGDEAEPFLDQSGGPGAPTTPRKLPSRPPPHYPGIKRKRSAPTS RKLLSDKPQDFQIRVQVIEGRQLPGVNIKPVVKVTAAGQTKRTRIHKGNSPLFNETLFFNLFDSPGELFD EPIFITVVDSRSLRTDALLGEFRMDVGTIYREPRHAYLRKWLLLSDPDDFSAGARGYLKTSLCVLGPGDE APLERKDPSEDKEDIESNLLRPTGVALRGAHFCLKVFRAEDLPQMDDAVMDNVKQIFGFESNKKNLVDPF VEVSFAGKMLCSKILEKTANPQWNQNITLPAMFPSMCEKMRIRIIDWDRLTHNDIVATTYLSMSKISAPG GEIEEEPAGAVKPSKASDLDDYLGFLPTFGPCYINLYGSPREFTGFPDPYTELNTGKGEGVAYRGRLLLS LETKLVEHSEQKVEDLPADDILRVEKYLRRRKYSLFAAFYSATMLQDVDDAIQFEVSIGNYGNKFDMTCL PLASTTQYSRAVFDGCHYYYLPWGNVKPVVVLSSYWEDISHRIETQNQLLGIADRLEAGLEQVHLALKAQ CSTEDVDSLVAQLTDELIAGCSQPLGDIHETPSATHLDQYLYQLRTHHLSQITEAALALKLGHSELPAAL EQAEDWLLRLRALAEEPQNSLPDIVIWMLQGDKRVAYQRVPAHQVLFSRRGANYCGKNCGKLQTIFLKYP MEKVPGARMPVQIRVKLWFGLSVDEKEFNQFAEGKLSVFAETYENETKLALVGNWGTTGLTYPKFSDVTG KIKLPKDSFRPSAGWTWAGDWFVCPEKTLLHDMDAGHLSFVEEVFENQTRLPGGQWIYMSDNYTDVNGEK VLPKDDIECPLGWKWEDEEWSTDLNRAVDEQGWEYSITIPPERKPKHWVPAEKMYYTHRRRRWVRLRRRD LSQMEALKRHRQAEAEGEGWEYASLFGWKFHLEYRKTDAFRRRRWRRRMEPLEKTGPAAVFALEGALGGV MDDKSEDSMSVSTLSFGVNRPTISCIFDYGNRYHLRCYMYQARDLAAMDKDSFSDPYAIVSFLHQSQKTV VVKNTLNPTWDQTLIFYEIEIFGEPATVAEQPPSIVVELYDHDTYGADEFMGRCICQPSLERMPRLAWFP LTRGSQPSGELLASFELIQREKPAIHHIPGFEVQETSRILDESEDTDLPYPPPQREANIYMVPQNIKPAL QRTAIEILAWGLRNMKSYQLANISSPSLVVECGGQTVQSCVIRNLRKNPNFDICTLFMEVMLPREELYCP PITVKVIDNRQFGRRPVVGQCTIRSLESFLCDPYSAESPSPQGGPDDVSLLSPGEDVLIDIDDKEPLIPI QLADGLSSLAPTNTASPPSSPHEEEFIDWWSKFFASIGEREKCGSYLEKDFDTLKVYDTQLENVEAFEGL SDFCNTFKLYRGKTQEETEDPSVIGEFKGLFKIYPLPEDPAIPMPPRQFHQLAAQGPQECLVRIYIVRAF GLQPKDPNGKCDPYIKISIGKKSVSDQDNYIPCTLEPVFGKMFELTCTLPLEKDLKITLYDYDLLSKDEK IGETVVDLENRLLSKFGARCGLPQTYCVSGPNQWRDQLRPSQLLHLFCQQHRVKAPVYRTDRVMFQDKEY SIEEIEAGRIPNPHLGPVEERLALHVLQQQGLVPEHVESRPLYSPLQPDIEQGKLQMWVDLFPKALGRPG PPFNITPRRARRFFLRCIIWNTRDVILDDLSLTGEKMSDIYVKGWMIGFEEHKQKTDVHYRSLGGEGNFN WRFIFPFDYLPAEQVCTIAKKDAFWRLDKTESKIPARVVFQIWDNDKFSFDDFLGSLQLDLNRMPKPAKT AKKCSLDQLDDAFHPEWFVSLFEQKTVKGWWPCVAEEGEKKILAGKLEMTLEIVAESEHEERPAGQGRDE PNMNPKLEDPRRPDTSFLWFTSPYKTMKFILWRRFRWAIILFIILFILLLFLAIFIYAFPNYAAMKLVKP FS TRTRPLEQKLISEEDLAANDILDYKDDDDKV
Restriction Sites	SgfI-MluI      Cloning Scheme for this gene      Plasmid Map
ACCN	NM_001130983
ORF Size	6306 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_001130983.2
RefSeq ORF	6309 bp
Locus ID	8291
UniProt ID	O75923
Protein Families	Transmembrane
MW	239.2 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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