CBL (NM_005188) Human Mutant ORF Clone

Specifications

Product Data
Product Name	CBL (NM_005188) Human Mutant ORF Clone
Mutation Description	C416Y
Affected Codon#	416
Affected NT#	c.1247
Nucleotide Mutation	CBL Mutant (C416Y), Myc-DDK-tagged ORF clone of Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL) as transfection-ready DNA
Effect	Missense
Synonyms	C-CBL; CBL2; FRA11B; NSLL; RNF55
Vector	pCMV6-Entry
Tag	Myc-DDK
ACCN	NM_005188
ORF Size	2718 bp
Sequence Data	ORF Nucleotide Sequence (showhide) >RC400486 representing NM_005188 Red=Cloning site Blue=ORF Green=Tags(s) TTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTGGATCCGGTACCGAGGAGATCTGCC GCCGCGATCGCC ATGGCCGGCAACGTGAAGAAGAGCTCTGGGGCCGGGGGCGGCAGCGGCTCCGGGGGCTCGGGTTCGGGTG GCCTGATTGGGCTCATGAAGGACGCCTTCCAGCCGCACCACCACCACCACCACCACCTCAGCCCCCACCC GCCGGGGACGGTGGACAAGAAGATGGTGGAGAAGTGCTGGAAGCTCATGGACAAGGTGGTGCGGTTGTGT CAGAACCCAAAGCTGGCGCTAAAGAATAGCCCACCTTATATCTTAGACCTGCTACCAGATACCTACCAGC ATCTCCGTACTATCTTGTCAAGATATGAGGGGAAGATGGAGACACTTGGAGAAAATGAGTATTTTAGGGT GTTTATGGAGAATTTGATGAAGAAAACTAAGCAAACCATAAGCCTCTTCAAGGAGGGAAAAGAAAGAATG TATGAGGAGAATTCTCAGCCTAGGCGAAACCTAACCAAACTGTCCCTCATCTTCAGCCACATGCTGGCAG AACTAAAAGGAATCTTTCCAAGTGGACTCTTTCAGGGAGACACATTTCGGATTACTAAAGCAGATGCTGC GGAATTTTGGAGAAAAGCTTTTGGGGAAAAGACAATAGTCCCTTGGAAGAGCTTTCGACAGGCTCTACAT GAAGTGCATCCCATCAGTTCTGGGCTGGAGGCCATGGCTCTGAAATCCACTATTGATCTGACCTGCAATG ATTATATTTCGGTTTTTGAATTTGACATCTTTACCCGACTCTTTCAGCCCTGGTCCTCTTTGCTCAGGAA TTGGAACAGCCTTGCTGTAACTCATCCTGGCTACATGGCTTTTTTGACGTATGACGAAGTGAAAGCTCGG CTCCAGAAATTCATTCACAAACCTGGCAGTTATATCTTCCGGCTGAGCTGTACTCGTCTGGGTCAGTGGG CTATTGGGTATGTTACTGCTGATGGGAACATTCTCCAGACAATCCCTCACAATAAACCTCTCTTCCAAGC ACTGATTGATGGCTTCAGGGAAGGCTTCTATTTGTTTCCTGATGGACGAAATCAGAATCCTGATCTGACT GGCTTATGTGAACCAACTCCCCAAGACCATATCAAAGTGACCCAGGAACAATATGAATTATACTGTGAGA TGGGCTCCACATTCCAACTATGTAAAATATGTGCTGAAAATGATAAGGATGTAAAGATTGAGCCCTGTGG ACACCTCATGTGCACATCCTGTCTTACATCCTGGCAGGAATCAGAAGGTCAGGGCTATCCTTTCTGCCGA TGTGAAATTAAAGGTACTGAACCCATCGTGGTAGATCCGTTTGATCCTAGAGGGAGTGGCAGCCTGTTGA GGCAAGGAGCAGAGGGAGCTCCCTCCCCAAATTATGATGATGATGATGATGAACGAGCTGATGATACTCT CTTCATGATGAAGGAATTGGCTGGTGCCAAGGTGGAACGGCCGCCTTCTCCATTCTCCATGGCCCCACAA GCTTCCCTTCCCCCGGTGCCACCACGACTTGACCTTCTGCCGCAGCGAGTATGTGTTCCCTCAAGTGCTT CTGCTCTTGGAACTGCTTCTAAGGCTGCTTCTGGCTCCCTTCATAAAGACAAACCATTGCCAGTACCTCC CACACTTCGAGATCTTCCACCACCACCGCCTCCAGACCGGCCATATTCTGTTGGAGCAGAATCCCGACCT CAAAGACGCCCCTTGCCTTGTACACCAGGCGACTGTCCCTCCAGAGACAAACTGCCCCCTGTCCCCTCTA GCCGCCTTGGAGACTCATGGCTGCCCCGGCCAATCCCCAAAGTACCAGTATCTGCCCCAAGTTCCAGTGA TCCCTGGACAGGAAGAGAATTAACCAACCGGCACTCACTTCCATTTTCATTGCCCTCACAAATGGAGCCC AGACCAGATGTGCCTAGGCTCGGAAGCACGTTCAGTCTGGATACCTCCATGAGTATGAATAGCAGCCCAT TAGTAGGTCCAGAGTGTGACCACCCCAAAATCAAACCTTCCTCATCTGCCAATGCCATTTATTCTCTGGC TGCCAGACCTCTTCCTGTGCCAAAACTGCCACCTGGGGAGCAATGTGAGGGTGAAGAGGACACAGAGTAC ATGACTCCCTCTTCCAGGCCTCTACGGCCTTTGGATACATCCCAGAGTTCACGAGCATGTGATTGCGACC AGCAGATTGATAGCTGTACGTATGAAGCAATGTATAATATTCAGTCCCAGGCGCCATCTATCACCGAGAG CAGCACCTTTGGTGAAGGGAATTTGGCCGCAGCCCATGCCAACACTGGTCCCGAGGAGTCAGAAAATGAG GATGATGGGTATGATGTCCCAAAGCCACCTGTGCCGGCCGTGCTGGCCCGCCGAACTCTCTCAGATATCT CTAATGCCAGCTCCTCCTTTGGCTGGTTGTCTCTGGATGGTGATCCTACAACAAATGTCACTGAAGGTTC CCAAGTTCCCGAGAGGCCTCCAAAACCATTCCCGCGGAGAATCAACTCTGAACGGAAAGCTGGCAGCTGT CAGCAAGGTAGTGGTCCTGCCGCCTCTGCTGCCACCGCCTCACCTCAGCTCTCCAGTGAGATCGAGAACC TCATGAGTCAGGGGTACTCCTACCAGGACATCCAGAAAGCTTTGGTCATTGCCCAGAACAACATCGAGAT GGCCAAAAACATCCTCCGGGAATTTGTTTCCATTTCTTCTCCTGCCCATGTAGCTACC ACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCCTGGATT ACAAGGATGACGACGATAAGGTTTAA Protein Sequence (showhide) >RC400486 representing NM_005188 Red=Cloning site Green=Tags(s) MAGNVKKSSGAGGGSGSGGSGSGGLIGLMKDAFQPHHHHHHHLSPHPPGTVDKKMVEKCWKLMDKVVRLC QNPKLALKNSPPYILDLLPDTYQHLRTILSRYEGKMETLGENEYFRVFMENLMKKTKQTISLFKEGKERM YEENSQPRRNLTKLSLIFSHMLAELKGIFPSGLFQGDTFRITKADAAEFWRKAFGEKTIVPWKSFRQALH EVHPISSGLEAMALKSTIDLTCNDYISVFEFDIFTRLFQPWSSLLRNWNSLAVTHPGYMAFLTYDEVKAR LQKFIHKPGSYIFRLSCTRLGQWAIGYVTADGNILQTIPHNKPLFQALIDGFREGFYLFPDGRNQNPDLT GLCEPTPQDHIKVTQEQYELYCEMGSTFQLCKICAENDKDVKIEPCGHLMCTSCLTSWQESEGQGYPFCR CEIKGTEPIVVDPFDPRGSGSLLRQGAEGAPSPNYDDDDDERADDTLFMMKELAGAKVERPPSPFSMAPQ ASLPPVPPRLDLLPQRVCVPSSASALGTASKAASGSLHKDKPLPVPPTLRDLPPPPPPDRPYSVGAESRP QRRPLPCTPGDCPSRDKLPPVPSSRLGDSWLPRPIPKVPVSAPSSSDPWTGRELTNRHSLPFSLPSQMEP RPDVPRLGSTFSLDTSMSMNSSPLVGPECDHPKIKPSSSANAIYSLAARPLPVPKLPPGEQCEGEEDTEY MTPSSRPLRPLDTSQSSRACDCDQQIDSCTYEAMYNIQSQAPSITESSTFGEGNLAAAHANTGPEESENE DDGYDVPKPPVPAVLARRTLSDISNASSSFGWLSLDGDPTTNVTEGSQVPERPPKPFPRRINSERKAGSC QQGSGPAASAATASPQLSSEIENLMSQGYSYQDIQKALVIAQNNIEMAKNILREFVSISSPAHVAT TRTRPLEQKLISEEDLAANDILDYKDDDDKV
Restriction Sites	SgfI-MluI      Cloning Scheme for this gene
OTI Disclaimer	Due to the inherent nature of this plasmid, standard methods to replicate additional amounts of DNA in E. coli are highly likely to result in mutations and/or rearrangements. Therefore, OriGene does not guarantee the capability to replicate this plasmid DNA. Additional amounts of DNA can be purchased from OriGene with batch-specific, full-sequence verification at a reduced cost. Please contact our customer care team at custsupport@origene.com or by calling 301.340.3188 option 3 for pricing and delivery. 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.
Reference Data
RefSeq	NP_005179
RefSeq Size	11241 bp
RefSeq ORF	2721 bp
Locus ID	867
Domains	UBA, RING, Cbl_N
Protein Families	Druggable Genome, Transcription Factors
Protein Pathways	Chronic myeloid leukemia, Endocytosis, ErbB signaling pathway, Insulin signaling pathway, Jak-STAT signaling pathway, Pathways in cancer, T cell receptor signaling pathway, Ubiquitin mediated proteolysis
MW	99 kDa
Gene Summary	This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia, and expansion of CGG repeats in the 5' UTR has been associated with Jacobsen syndrome. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Jul 2016]

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