Dysferlin (DYSF) (NM_001130979) 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) >RC226453 representing NM_001130979 Red=Cloning site Blue=ORF Green=Tags(s) TTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTGGATCCGGTACCGAGGAGATCTGCC GCCGCGATCGCC ATGCTGAGGGTCTTCATCCTCTATGCCGAGAACGTCCACACACCCGACACCGACATCAGCGATGCCTACT GCTCCGCGGTGTTTGCAGGGGTGAAGAAGAGAACCAAAGTCATCAAGAACAGCGTGAACCCTGTATGGAA TGAGGGATTTGAATGGGACCTCAAGGGCATCCCCCTGGACCAGGGCTCTGAGCTTCATGTGGTGGTCAAA GACCATGAGACGATGGGGAGGAACAGGTTCCTGGGGGAAGCCAAGGTCCCACTCCGAGAGGTCCTCGCCA CCCCTAGTCTGTCCGCCAGCTTCAATGCCCCCCTGCTGGACACCAAGAAGCAGCCCACAGGGGCCTCGCT GGTCCTGCAGGTGTCCTACACACCGCTGCCTGGAGCTGTGCCCCTGTTCCCGCCCCCTACTCCTCTGGAG CCCTCCCCGACTCTGCCTGACCTGGATGTAGTGGCAGGCGGGGGACAGAGCCGGGCCGAGACTTGGTCCC TGCTCAGTGACAGCACCATGGACACGAGATACTCTGGAAAGAAGTGGCCGGCCCCCACGGACACAGGAGG AGAGGAAGACACAGAGGACCAGGGACTCACTGGAGATGAGGCGGAGCCATTCCTGGATCAAAGCGGAGGC CCGGGGGCTCCCACCACCCCAAGGAAACTACCTTCACGTCCTCCGCCCCACTACCCCGGGATCAAAAGAA AGCGAAGTGCGCCTACATCTAGAAAGCTGCTGTCAGACAAACCGCAGGATTTCCAGATCAGGGTCCAGGT GATCGAGGGGCGCCAGCTGCCGGGGGTGAACATCAAGCCTGTGGTCAAGGTTACCGCTGCAGGGCAGACC AAGCGGACGCGGATCCACAAGGGAAACAGCCCACTCTTCAATGAGACTCTTTTCTTCAACTTGTTTGACT CTCCTGGGGAGCTGTTTGATGAGCCCATCTTTATCACGGTGGTAGACTCTCGTTCTCTCAGGACAGATGC TCTCCTCGGGGAGTTCCGGATGGACGTGGGCACCATTTACAGAGAGCCCCGGCACGCCTATCTCAGGAAG TGGCTGCTGCTCTCAGACCCTGATGACTTCTCTGCTGGGGCCAGAGGCTACCTGAAAACAAGCCTTTGTG TGCTGGGGCCTGGGGACGAAGCGCCTCTGGAGAGAAAAGACCCCTCTGAAGACAAGGAGGACATTGAAAG CAACCTGCTCCGGCCCACAGGCGTAGCCCTGCGAGGAGCCCACTTCTGCCTGAAGGTCTTCCGGGCCGAG GACTTGCCGCAGATGGACGATGCCGTGATGGACAACGTGAAACAGATCTTTGGCTTCGAGAGTAACAAGA AGAACTTGGTGGACCCCTTTGTGGAGGTCAGCTTTGCGGGGAAAATGCTGTGCAGCAAGATCTTGGAGAA GACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGTTTCCCTCCATGTGCGAAAAAATG AGGATTCGTATCATAGACTGGGACCGCCTGACTCACAATGACATCGTGGCTACCACCTACCTGAGTATGT CGAAAATCTCTGCCCCTGGAGGAGAAATAGAAGAGGAGCCTGCAGGTGCTGTCAAGCCTTCGAAAGCCTC AGACTTGGATGACTACCTGGGCTTCCTCCCCACTTTTGGGCCCTGCTACATCAACCTCTATGGCAGTCCC AGAGAGTTCACAGGCTTCCCAGACCCCTACACAGAGCTCAACACAGGCAAGGGGGAAGGTGTGGCTTATC GTGGCCGGCTTCTGCTCTCCCTGGAGACCAAGCTGGTGGAGCACAGTGAACAGAAGGTGGAGGACCTTCC TGCGGATGACATCCTCCGGGTGGAGAAGTACCTTAGGAGGCGCAAGTACTCCCTGTTTGCGGCCTTCTAC TCAGCCACCATGCTGCAGGATGTGGATGATGCCATCCAGTTTGAGGTCAGCATCGGGAACTACGGGAACA AGTTCGACATGACCTGCCTGCCGCTGGCCTCCACCACTCAGTACAGCCGTGCAGTCTTTGACGGGTGCCA CTACTACTACCTACCCTGGGGTAACGTGAAACCTGTGGTGGTGCTGTCATCCTACTGGGAGGACATCAGC CATAGAATCGAGACTCAGAACCAGCTGCTTGGGATTGCTGACCGGCTGGAAGCTGGCCTGGAGCAGGTCC ACCTGGCCCTGAAGGCGCAGTGCTCCACGGAGGACGTGGACTCGCTGGTGGCTCAGCTGACGGATGAGCT CATCGCAGGCTGCAGCCAGCCTCTGGGTGACATCCATGAGACACCCTCTGCCACCCACCTGGACCAGTAC CTGTACCAGCTGCGCACCCATCACCTGAGCCAAATCACTGAGGCTGCCCTGGCCCTGAAGCTCGGCCACA GTGAGCTCCCTGCAGCTCTGGAGCAGGCGGAGGACTGGCTCCTGCGTCTGCGTGCCCTGGCAGAGGAGCC CCAGAACAGCCTGCCGGACATCGTCATCTGGATGCTGCAGGGAGACAAGCGTGTGGCATACCAGCGGGTG CCCGCCCACCAAGTCCTCTTCTCCCGGCGGGGTGCCAACTACTGTGGCAAGAATTGTGGGAAGCTACAGA CAATCTTTCTGAAATATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCT GTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCT GAAACCTATGAGAACGAGACTAAGTTGGCCCTTGTTGGGAACTGGGGCACAACGGGCCTCACCTACCCCA AGTTTTCTGACGTCACGGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTG GGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTC GTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACA CCGATGTGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGA TGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGCTGGGAGTATAGCATCACCATCCCC CCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGG TGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGCACAGGCAGGCGGAGGCGGAGGG CGAGGGCTGGGAGTACGCCTCTCTTTTTGGCTGGAAGTTCCACCTCGAGTACCGCAAGACAGATGCCTTC CGCCGCCGCCGCTGGCGCCGTCGCATGGAGCCACTGGAGAAGACGGGGCCTGCAGCTGTGTTTGCCCTTG AGGGGGCCCTGGGCGGCGTGATGGATGACAAGAGTGAAGATTCCATGTCCGTCTCCACCTTGAGCTTCGG TGTGAACAGACCCACGATTTCCTGCATATTCGACTATGGGAACCGCTACCATCTACGCTGCTACATGTAC CAGGCCCGGGACCTGGCTGCGATGGACAAGGACTCTTTTTCTGATCCCTATGCCATCGTCTCCTTCCTGC ACCAGAGCCAGAAGACGGTGGTGGTGAAGAACACCCTTAACCCCACCTGGGACCAGACGCTCATCTTCTA CGAGATCGAGATCTTTGGCGAGCCGGCCACAGTTGCTGAGCAACCGCCCAGCATTGTGGTGGAGCTGTAC GACCATGACACTTATGGTGCAGACGAGTTTATGGGTCGCTGCATCTGTCAACCGAGTCTGGAACGGATGC CACGGCTGGCCTGGTTCCCACTGACGAGGGGCAGCCAGCCGTCGGGGGAGCTGCTGGCCTCTTTTGAGCT CATCCAGAGAGAGAAGCCGGCCATCCACCATATTCCTGGTTTTGAGGTGCAGGAGACATCAAGGATCCTG GATGAGTCTGAGGACACAGACCTGCCCTACCCACCACCCCAGAGGGAGGCCAACATCTACATGGTTCCTC AGAACATCAAGCCAGCGCTCCAGCGTACCGCCATCGAGATCCTGGCATGGGGCCTGCGGAACATGAAGAG TTACCAGCTGGCCAACATCTCCTCCCCCAGCCTCGTGGTAGAGTGTGGGGGCCAGACGGTGCAGTCCTGT GTCATCAGGAACCTCCGGAAGAACCCCAACTTTGACATCTGCACCCTCTTCATGGAAGTGATGCTGCCCA GGGAGGAGCTCTACTGCCCCCCCATCACCGTCAAGGTCATCGATAACCGCCAGTTTGGCCGCCGGCCTGT GGTGGGCCAGTGTACCATCCGCTCCCTGGAGAGCTTCCTGTGTGACCCCTACTCGGCGGAGAGTCCATCC CCACAGGGTGGCCCAGACGATGTGAGCCTACTCAGTCCTGGGGAAGACGTGCTCATCGACATTGATGACA AGGAGCCCCTCATCCCCATCCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGG GGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTCTATGACACACAGCTG GAGAATGTGGAGGCCTTTGAGGGCCTGTCTGACTTTTGTAACACCTTCAAGCTGTACCGGGGCAAGACGC AGGAGGAGACAGAAGATCCATCTGTGATTGGTGAATTTAAGGGCCTCTTCAAAATTTATCCCCTCCCAGA AGACCCAGCCATCCCCATGCCCCCAAGACAGTTCCACCAGCTGGCCGCCCAGGGACCCCAGGAGTGCTTG GTCCGTATCTACATTGTCCGAGCATTTGGCCTGCAGCCCAAGGACCCCAATGGAAAGTGTGATCCTTACA TCAAGATCTCCATAGGGAAGAAATCAGTGAGTGACCAGGATAACTACATCCCCTGCACGCTGGAGCCCGT ATTTGGAAAGATGTTCGAGCTGACCTGCACTCTGCCTCTGGAGAAGGACCTAAAGATCACTCTCTATGAC TATGACCTCCTCTCCAAGGACGAAAAGATCGGTGAGACGGTCGTCGACCTGGAGAACAGGCTGCTGTCCA AGTTTGGGGCTCGCTGTGGACTCCCACAGACCTACTGTGTCTCTGGACCGAACCAGTGGCGGGACCAGCT CCGCCCCTCCCAGCTCCTCCACCTCTTCTGCCAGCAGCATAGAGTCAAGGCACCTGTGTACCGGACAGAC CGTGTAATGTTTCAGGATAAAGAATATTCCATTGAAGAGATAGAGGCTGGCAGGATCCCAAACCCACACC TGGGCCCAGTGGAGGAGCGTCTGGCTCTGCATGTGCTTCAGCAGCAGGGCCTGGTCCCGGAGCACGTGGA GTCACGGCCCCTCTACAGCCCCCTGCAGCCAGACATCGAGCAGGGGAAGCTGCAGATGTGGGTCGACCTA TTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTTTTTCC TGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAG CGACATTTATGTGAAAGGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGT TCCCTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAG TCTGTACCATTGCCAAGAAGGATGCCTTCTGGAGGCTGGACAAGACTGAGAGCAAAATCCCAGCACGAGT GGTGTTCCAGATCTGGGACAATGACAAGTTCTCCTTTGATGATTTTCTGGGCTCCCTGCAGCTCGATCTC AACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGGACCAGCTGGATGATGCTTTCCACC CAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGG TGAGAAGAAAATACTGGCGGGCAAGCTGGAAATGACCTTGGAGATTGTAGCAGAGAGTGAGCATGAGGAG CGGCCTGCTGGCCAGGGCCGGGATGAGCCCAACATGAACCCTAAGCTTGAGGACCCAAGGCGCCCCGACA CCTCCTTCCTGTGGTTTACCTCCCCATACAAGACCATGAAGTTCATCCTGTGGCGGCGTTTCCGGTGGGC CATCATCCTCTTCATCATCCTCTTCATCCTGCTGCTGTTCCTGGCCATCTTCATCTACGCCTTCCCGAAC TATGCTGCCATGAAGCTGGTGAAGCCCTTCAGC ACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCCTGGATT ACAAGGATGACGACGATAAGGTTTAA Protein Sequence (showhide) >RC226453 representing NM_001130979 Red=Cloning site Green=Tags(s) MLRVFILYAENVHTPDTDISDAYCSAVFAGVKKRTKVIKNSVNPVWNEGFEWDLKGIPLDQGSELHVVVK DHETMGRNRFLGEAKVPLREVLATPSLSASFNAPLLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLE PSPTLPDLDVVAGGGQSRAETWSLLSDSTMDTRYSGKKWPAPTDTGGEEDTEDQGLTGDEAEPFLDQSGG PGAPTTPRKLPSRPPPHYPGIKRKRSAPTSRKLLSDKPQDFQIRVQVIEGRQLPGVNIKPVVKVTAAGQT KRTRIHKGNSPLFNETLFFNLFDSPGELFDEPIFITVVDSRSLRTDALLGEFRMDVGTIYREPRHAYLRK WLLLSDPDDFSAGARGYLKTSLCVLGPGDEAPLERKDPSEDKEDIESNLLRPTGVALRGAHFCLKVFRAE DLPQMDDAVMDNVKQIFGFESNKKNLVDPFVEVSFAGKMLCSKILEKTANPQWNQNITLPAMFPSMCEKM RIRIIDWDRLTHNDIVATTYLSMSKISAPGGEIEEEPAGAVKPSKASDLDDYLGFLPTFGPCYINLYGSP REFTGFPDPYTELNTGKGEGVAYRGRLLLSLETKLVEHSEQKVEDLPADDILRVEKYLRRRKYSLFAAFY SATMLQDVDDAIQFEVSIGNYGNKFDMTCLPLASTTQYSRAVFDGCHYYYLPWGNVKPVVVLSSYWEDIS HRIETQNQLLGIADRLEAGLEQVHLALKAQCSTEDVDSLVAQLTDELIAGCSQPLGDIHETPSATHLDQY LYQLRTHHLSQITEAALALKLGHSELPAALEQAEDWLLRLRALAEEPQNSLPDIVIWMLQGDKRVAYQRV PAHQVLFSRRGANYCGKNCGKLQTIFLKYPMEKVPGARMPVQIRVKLWFGLSVDEKEFNQFAEGKLSVFA ETYENETKLALVGNWGTTGLTYPKFSDVTGKIKLPKDSFRPSAGWTWAGDWFVCPEKTLLHDMDAGHLSF VEEVFENQTRLPGGQWIYMSDNYTDVNGEKVLPKDDIECPLGWKWEDEEWSTDLNRAVDEQGWEYSITIP PERKPKHWVPAEKMYYTHRRRRWVRLRRRDLSQMEALKRHRQAEAEGEGWEYASLFGWKFHLEYRKTDAF RRRRWRRRMEPLEKTGPAAVFALEGALGGVMDDKSEDSMSVSTLSFGVNRPTISCIFDYGNRYHLRCYMY QARDLAAMDKDSFSDPYAIVSFLHQSQKTVVVKNTLNPTWDQTLIFYEIEIFGEPATVAEQPPSIVVELY DHDTYGADEFMGRCICQPSLERMPRLAWFPLTRGSQPSGELLASFELIQREKPAIHHIPGFEVQETSRIL DESEDTDLPYPPPQREANIYMVPQNIKPALQRTAIEILAWGLRNMKSYQLANISSPSLVVECGGQTVQSC VIRNLRKNPNFDICTLFMEVMLPREELYCPPITVKVIDNRQFGRRPVVGQCTIRSLESFLCDPYSAESPS PQGGPDDVSLLSPGEDVLIDIDDKEPLIPIQEEEFIDWWSKFFASIGEREKCGSYLEKDFDTLKVYDTQL ENVEAFEGLSDFCNTFKLYRGKTQEETEDPSVIGEFKGLFKIYPLPEDPAIPMPPRQFHQLAAQGPQECL VRIYIVRAFGLQPKDPNGKCDPYIKISIGKKSVSDQDNYIPCTLEPVFGKMFELTCTLPLEKDLKITLYD YDLLSKDEKIGETVVDLENRLLSKFGARCGLPQTYCVSGPNQWRDQLRPSQLLHLFCQQHRVKAPVYRTD RVMFQDKEYSIEEIEAGRIPNPHLGPVEERLALHVLQQQGLVPEHVESRPLYSPLQPDIEQGKLQMWVDL FPKALGRPGPPFNITPRRARRFFLRCIIWNTRDVILDDLSLTGEKMSDIYVKGWMIGFEEHKQKTDVHYR SLGGEGNFNWRFIFPFDYLPAEQVCTIAKKDAFWRLDKTESKIPARVVFQIWDNDKFSFDDFLGSLQLDL NRMPKPAKTAKKCSLDQLDDAFHPEWFVSLFEQKTVKGWWPCVAEEGEKKILAGKLEMTLEIVAESEHEE RPAGQGRDEPNMNPKLEDPRRPDTSFLWFTSPYKTMKFILWRRFRWAIILFIILFILLLFLAIFIYAFPN YAAMKLVKPFS TRTRPLEQKLISEEDLAANDILDYKDDDDKV
Restriction Sites	SgfI-MluI      Cloning Scheme for this gene      Plasmid Map
ACCN	NM_001130979
ORF Size	6333 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_001130979.2
RefSeq ORF	6336 bp
Locus ID	8291
UniProt ID	O75923
Protein Families	Transmembrane
MW	240.5 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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