GTF2IRD1 (NM_001199207) Human Untagged Clone

Specifications

Product Data
Type	Human Untagged Clone
Tag	Tag Free
Synonyms	BEN; CREAM1; GTF3; hMusTRD1alpha1; MUSTRD1; RBAP2; WBS; WBSCR11; WBSCR12
Vector	pCMV6-Entry
Sequence Data	Fully Sequenced ORF (showhide) >SC331265 representing NM_001199207. Blue=Insert sequence Red=Cloning site Green=Tag(s) ATGGCCTTGCTGGGTAAGCGCTGTGACGTCCCCACCAACGGCTGCGGACCCGACCGCTGGAACTCCGCG TTCACCCGCAAAGACGAGATCATCACCAGCCTCGTGTCTGCCTTAGACTCCATGTGCTCAGCGCTGTCC AAACTGAACGCCGAGGTGGCCTGTGTCGCCGTGCACGATGAGAGCGCCTTTGTGGTGGGCACAGAGAAG GGGAGAATGTTCCTGAATGCCCGGAAGGAGCTACAGTCAGACTTCCTCAGGTTCTGCCTCTCCGCAGCT CAGCACAGGGCAGCGACATCCCAGCTCGAAGGCCGGGTGGTGAGACGGGTGCTCACTGTGGCCTCGCGT GCTCTGTGTCCCACAGGAGGGCCCCCGTGGAAGGATCCGGAGGCAGAGCACCCCAAGAAGGTGCAGCGG GGCGAGGGTGGAGGCCGTAGCCTCCCTCGGTCCTCCCTGGAACATGGCTCAGATGTGTACCTTCTGCGG AAGATGGTAGAGGAGGTGTTTGATGTTCTTTATAGCGAGGCCCTGGGAAGGGCCAGTGTGGTGCCACTG CCCTATGAGAGGCTGCTCAGGGAGCCAGGGCTGCTGGCCGTGCAGGGGCTGCCCGAAGGCCTGGCCTTC CGAAGGCCAGCCGAGTATGACCCCAAGGCCCTCATGGCCATCCTGGAACACAGCCACCGCATCCGCTTC AAGCTCAAGAGGCCACTTGAGGATGGCGGGCGGGACTCGAAGGCCCTGGTGGAGCTGAACGGTGTCTCC CTGATTCCCAAGGGGTCACGGGACTGTGGCCTGCATGGCCAGGCCCCCAAGGTGCCACCCCAGGACCTG CCCCCAACCGCCACCTCCTCCTCCATGGCCAGCTTCCTGTACAGCACGGCGCTCCCCAACCACGCCATC CGAGAGCTCAAGCAGGAAGCACCTTCCTGCCCCCTTGCCCCCAGCGACCTGGGCCTGAGTCGGCCCATG CCAGAGCCCAAGGCCACCGGTGCCCAAGACTTCTCCGACTGTTGTGGACAGAAGCCCACTGGGCCTGGT GGGCCTCTCATCCAGAACGTCCATGCCTCCAAGCGCATTCTCTTCTCCATCGTCCATGACAAGTCAGAG AAGTGGGACGCCTTCATAAAGGAAACCGAGGACATCAACACGCTCCGGGAGTGTGTGCAGATCCTGTTT AACAGCAGATATGCGGAAGCCCTGGGCCTGGACCACATGGTCCCCGTGCCCTACCGGAAGATTGCCTGT GACCCGGAGGCTGTGGAGATCGTGGGCATCCCGGACAAGATCCCCTTCAAGCGCCCCTGCACTTATGGA GTCCCCAAGCTGAAGCGGATCCTGGAGGAGCGCCATAGTATCCACTTCATCATTAAGAGGATGTTTGAT GAGCGAATTTTCACAGGGAACAAGTTTACCAAAGACACCACGAAGCTGGAGCCAGCCAGCCCGCCAGAG GACACCTCTGCAGAGGTCTCTAGGGCCACCGTCCTTGACCTTGCTGGGAATGCTCGGTCAGACAAGGGC AGCATGTCTGAAGACTGTGGGCCAGGAACCTCCGGGGAGCTGGGCGGGCTGAGGCCGATCAAAATTGAG CCAGAGGATCTGGACATCATTCAGGTCACCGTCCCAGACCCCTCGCCAACCTCTGAGGAAATGACAGAC TCGATGCCTGGGCACCTGCCATCGGAGGATTCTGGTTATGGGATGGAGATGCTGACAGACAAAGGTCTG AGTGAGGACGCGCGGCCCGAGGAGAGGCCCGTGGAGGACAGCCACGGTGACGTGATCCGGCCCCTGCGG AAGCAGGTGGAGCTGCTCTTCAACACACGATACGCCAAGGCCATTGGCATCTCGGAGCCCGTCAAGGTG CCGTACTCCAAGTTTCTGATGCACCCGGAGGAGCTGTTTGTGGTGGGACTGCCTGAAGGCATCTCCCTC CGCAGGCCCAACTGCTTCGGGATCGCCAAGCTCCGGAAGATTCTGGAGGCCAGCAACAGCATCCAGTTT GTCATCAAGAGGCCCGAGCTGCTCACTGAGGGAGTCAAAGAGCCCATCATGGATAGTCAAGAGAGGGAT TCCGGGGACCCTCTGGTGGACGAGAGCCTGAAGAGACAGGGCTTTCAAGAAAATTATGACGCGAGGCTC TCACGGATCGACATCGCCAACACACTAAGGGAGCAGGTCCAGGACCTTTTCAATAAGAAATACGGGGAA GCCTTGGGCATCAAGTACCCGGTCCAGGTCCCCTACAAGCGGATCAAGAGTAACCCCGGCTCCGTGATC ATCGAGGGGCTGCCCCCAGGAATCCCGTTCCGAAAGCCCTGTACCTTCGGCTCCCAGAACCTGGAGAGG ATTCTTGCTGTGGCTGACAAGATCAAGTTCACAGTCACCAGGCCTTTCCAAGGACTCATCCCAAAGCCT GATGAAGATGACGCCAACAGACTCGGGGAGAAGGTGATCCTGCGGGAGCAGGTGAAGGAACTCTTCAAC GAGAAATACGGTGAGGCCCTGGGCCTGAACCGGCCGGTGCTGGTCCCTTATAAACTAATCCGGGACAGC CCAGACGCCGTGGAGGTCACGGGTCTGCCTGATGACATCCCCTTCCGGAACCCCAACACGTACGACATC CACCGGCTGGAGAAGATCCTGAAGGCCCGAGAGCATGTCCGCATGGTCATCATTAACCAGCTCCAACCC TTTGCAGAAATCTGCAATGATGCCAAGGTGCCAGCCAAAGACAGCAGCATTCCCAAGCGCAAGAGAAAG CGGGTCTCGGAAGGAAATTCCGTCTCCTCTTCCTCCTCGTCTTCCTCTTCCTCGTCCTCTAACCCGGAT TCAGTGGCATCGGCCAACCAGATCTCACTCGTGCAATGGCCAATGTACATGGTGGACTATGCCGGCCTG AACGTGCAGCTCCCGGGACCTCTTAATTACTAG
Restriction Sites	SgfI-MluI
ACCN	NM_001199207
Insert Size	2931 bp
OTI Disclaimer	Our molecular clone sequence data has been matched to the reference identifier above as a point of reference. Note that the complete sequence of our molecular clones may differ from the sequence published for this corresponding reference, e.g., by representing an alternative RNA splicing form or single nucleotide polymorphism (SNP).
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.
Note	Plasmids are not sterile.  For experiments where strict sterility is required, filtration with 0.22um filter is required.
Reference Data
RefSeq	NM_001199207.1
RefSeq Size	3522 bp
RefSeq ORF	2931 bp
Locus ID	9569
UniProt ID	Q9UHL9
Protein Families	Druggable Genome, Transcription Factors
Protein Pathways	Basal transcription factors
MW	108 kDa
Gene Summary	The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010] Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).

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