Treacher Collins syndrome protein (TCOF1) (NM_001195141) Human Untagged Clone

Specifications

Product Data
Type	Human Untagged Clone
Tag	Tag Free
Synonyms	MFD1; TCS; TCS1; treacle
Vector	pCMV6-Entry
Sequence Data	Fully Sequenced ORF (showhide) >SC331179 representing NM_001195141. Blue=Insert sequence Red=Cloning site Green=Tag(s) ATGGCCGAGGCCAGGAAGCGGCGGGAGCTACTTCCCCTGATCTACCACCATCTGCTGCGGGCTGGCTAT GTGCGTGCGGCGCGGGAAGTGAAGGAGCAGAGCGGCCAGAAGTGTTTCCTGGCTCAGCCCGTAACCCTT CTGGACATCTATACACACTGGCAACAAACCTCAGAGCTTGGTCGGAAGCGGAAGGCAGAGGAAGATGCG GCACTGCAAGCTAAGAAAACCCGTGTGTCAGACCCCATCAGCACCTCGGAGAGCTCGGAAGAGGAGGAA GAAGCAGAAGCCGAAACCGCCAAAGCCACCCCAAGACTAGCATCTACCAACTCCTCAGTCCTGGGGGCG GACTTGCCATCAAGCATGAAAGAAAAAGCCAAGGCAGAGACAGAGAAAGCTGGCAAGACTGGGAATTCC ATGCCACACCCTGCCACTGGGAAGACGGTGGCCAACCTTCTTTCTGGGAAGTCTCCCAGGAAGTCAGCA GAGCCCTCAGCAAATACTACGTTGGTCTCAGAAACTGAGGAGGAGGGCAGCGTCCCGGCCTTTGGAGCT GCTGCCAAGCCTGGGATGGTGTCAGCGGGCCAGGCCGACAGCTCCAGCGAGGACACCTCCAGCTCCAGT GATGAGACAGACGTGGAGGGGAAACCCTCAGTAAAACCAGCCCAGGTCAAAGCCTCATCAGTTTCTACT AAGGAGTCTCCAGCAAGAAAGGCGGCCCCAGCCCCTGGGAAGGTGGGGGATGTGACACCCCAGGTCAAA GGAGGGGCCCTGCCCCCAGCCAAGAGGGCCAAGAAGCCAGAAGAGGAGTCAGAGAGTAGTGAGGAGGGA TCTGAAAGTGAGGAGGAGGCCCCTGCAGGGACACGAAGCCAGGTAAAGGCCTCTGAAAAAATTCTCCAG GTCAGAGCTGCCTCAGCCCCTGCCAAGGGGACCCCTGGGAAAGGGGCTACCCCAGCACCCCCTGGGAAG GCAGGGGCTGTAGCCTCCCAGACCAAGGCAGGGAAGCCAGAGGAGGACTCAGAGAGCAGCAGCGAGGAG TCATCTGACAGTGAGGAGGAGACGCCAGCTGCCAAGGCCCTGCTTCAGGCGAAGGCCTCAGGAAAAACC TCTCAGGTCGGAGCTGCCTCAGCCCCTGCCAAGGAGTCCCCCAGGAAAGGAGCTGCCCCAGCGCCCCCT GGGAAGACAGGGCCTGCAGTTGCCAAGGCCCAGGCGGGGAAGCGGGAGGAGGACTCGCAGAGCAGCAGC GAGGAATCGGACAGTGAGGAGGAGGCGCCTGCTCAGGCGAAGCCTTCAGGGAAGGCCCCCCAGGTCAGA GCCGCCTCGGCCCCTGCCAAGGAGTCCCCCAGGAAAGGGGCTGCCCCAGCACCTCCTAGGAAAACAGGG CCTGCAGCCGCCCAGGTCCAGGTGGGGAAGCAGGAGGAGGACTCAAGAAGCAGCAGCGAGGAGTCAGAC AGTGACAGAGAGGCACTGGCAGCCATGAATGCAGCTCAGGTGAAGCCCTTGGGGAAAAGCCCCCAGGTG AAACCTGCCTCTACCATGGGCATGGGGCCCTTGGGGAAAGGCGCCGGCCCAGTGCCACCCGGGAAGGTG GGGCCTGCAACCCCCTCAGCCCAGGTGGGGAAGTGGGAGGAGGACTCAGAGAGCAGTAGTGAGGAGTCA TCAGACAGCAGTGATGGAGAGGTGCCCACAGCTGTGGCCCCGGCTCAGGAAAAGTCCTTGGGGAACATC CTCCAGGCCAAACCCACCTCCAGTCCTGCCAAGGGGCCCCCTCAGAAGGCAGGGCCTGTAGCCGTCCAG GTCAAGGCTGAAAAGCCCATGGACAACTCGGAGAGCAGCGAGGAGTCATCGGACAGTGCGGACAGTGAG GAGGCACCAGCAGCCATGACTGCAGCTCAGGCAAAACCAGCTCTGAAAATTCCTCAGACCAAGGCCTGC CCAAAGAAAACCAATACCACTGCATCTGCCAAGGTCGCCCCTGTGCGAGTGGGCACCCAAGCCCCCCGG AAAGCAGGAACTGCGACTTCTCCAGCAGGCTCATCCCCAGCTGTGGCTGGGGGCACCCAGAGACCAGCA GAGGATTCTTCAAGCAGTGAGGAATCAGATAGTGAGGAAGAGAAGACAGGTCTTGCAGTAACCGTGGGA CAGGCAAAGTCTGTGGGGAAAGGCCTCCAGGTGAAAGCAGCCTCAGTGCCTGTCAAGGGGTCCTTGGGG CAAGGGACTGCTCCAGTACTCCCTGGGAAGACGGGGCCTACAGTCACCCAGGTGAAAGCTGAAAAGCAG GAAGACTCTGAGAGCAGTGAGGAGGAATCAGACAGTGAGGAAGCAGCTGCATCTCCAGCACAGGTGAAA ACCTCAGTAAAGAAAACCCAGGCCAAAGCCAACCCAGCTGCCGCCAGAGCACCTTCAGCAAAAGGGACA ATTTCAGCCCCTGGAAAAGTTGTCACTGCAGCTGCTCAAGCCAAGCAGAGGTCTCCATCCAAGGTGAAG CCACCAGTGAGAAACCCCCAGAACAGTACCGTCTTGGCGAGGGGCCCAGCATCTGTGCCATCTGTGGGG AAGGCCGTGGCTACAGCAGCTCAGGCCCAGACAGGGCCAGAGGAGGACTCAGGGAGCAGTGAGGAGGAG TCAGACAGTGAGGAGGAGGCGGAGACGCTGGCTCAGGTGAAGCCTTCAGGGAAGACCCACCAGATCAGA GCTGCCTTGGCTCCTGCCAAGGAGTCCCCCAGGAAAGGGGCTGCCCCAACACCTCCTGGGAAGACAGGG CCTTCGGCTGCCCAGGCAGGGAAGCAGGATGACTCAGGGAGCAGCAGCGAGGAATCAGACAGTGATGGG GAGGCACCGGCAGCTGTGACCTCTGCCCAGGTGATTAAACCCCCTCTGATTTTTGTCGACCCTAATCGT AGTCCAGCTGGCCCAGCTGCTACACCCGCACAAGCCCAGGCTGCAAGCACCCCGAGGAAGGCCCGAGCC TCGGAGAGCACAGCCAGGAGCTCCTCCTCCGAGAGCGAGGATGAGGACGTGATCCCCGCTACACAGTGC TTGACTCCTGGCATCAGAACCAATGTGGTGACCATGCCCACTGCCCACCCAAGAATAGCCCCCAAAGCC AGCATGGCTGGGGCCAGCAGCAGCAAGGAGTCCAGTCGGATATCAGATGGCAAGAAACAGGAGGGACCA GCCACTCAGGTTGACAGTGCTGTGGGAACACTCCCTGCAACAAGTCCCCAGAGCACCTCCGTCCAGGCC AAAGGGACCAACAAGCTCAGAAAACCTAAGCTTCCTGAGGTCCAGCAGGCCACCAAAGCCCCTGAGAGC TCAGATGACAGTGAGGACAGCAGCGACAGTTCTTCAGGGAGTGAGGAAGATGGTGAAGGGCCCCAGGGG GCCAAGTCAGCCCACACGCTGGGTCCCACCCCCTCCAGGACAGAGACCCTGGTGGAGGAGACCGCAGCA GAGTCCAGCGAGGATGATGTGGTGGCGCCATCCCAGTCTCTCCTCTCAGGTTATATGACCCCTGGACTA ACCCCAGCCAATTCCCAGGCCTCAAAAGCCACTCCCAAGCTAGACTCCAGCCCCTCAGTTTCCTCTACT CTGGCCGCCAAAGATGACCCAGATGGCAAGCAGGAGGCAAAGCCCCAACAGGCAGCAGGCATGTTGTCC CCTAAAACAGGTGGAAAAGAGGCTGCTTCAGGCACCACACCTCAGAAGTCCCGGAAGCCCAAGAAAGGG GCTGGGAACCCCCAAGCCTCAACCCTGGCGCTGCAAAGCAACATCACCCAGTGCCTCCTGGGCCAACCC TGGCCCCTGAATGAGGCCCAGGTGCAGGCCTCAGTGGTGAAGGTCCTGACTGAGCTGCTGGAACAGGAA AGAAAGAAGGTGGTGGACACCACCAAGGAGAGCAGCAGGAAGGGCTGGGAGAGCCGCAAGCGGAAGCTA TCGGGAGACCAGCCAGCTGCCAGGACCCCCAGGAGCAAGAAGAAGAAGAAGCTGGGGGCCGGGGAAGGT GGGGAGGCCTCTGTTTCCCCAGAAAAGACCTCCACGACTTCCAAGGGGAAAGCAAAGAGAGACAAAGCA AGTGGTGATGTCAAGGAGAAGAAAGGGAAGGGGTCTCTTGGCTCCCAAGGGGCCAAGGACGAGCCAGAA GAGGAGCTTCAGAAGGGGATGGGGACGGTTGAAGGTGGAGATCAAAGCAACCCAAAGAGCAAGAAGGAG AAGAAGAAATCCGACAAGAGAAAAAAAGACAAAGAAAAAAAAGAAAAGAAGAAGAAAGCAAAAAAGGCC TCAACCAAAGATTCTGAGTCACCGTCCCAGAAGAAAAAGAAGAAAAAGAAGAAGACAGCAGAGCAGACT GTATGA
Restriction Sites	SgfI-MluI
ACCN	NM_001195141
Insert Size	4353 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.
Reference Data
RefSeq	NM_001195141.1
RefSeq Size	4999 bp
RefSeq ORF	4353 bp
Locus ID	6949
UniProt ID	Q13428
Protein Families	Druggable Genome, Stem cell - Pluripotency
MW	148.3 kDa
Gene Summary	This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] Transcript Variant: This variant (7) lacks an alternate in-frame exon in the 3' coding region, compared to variant 4. This results in a shorter protein (isoform g), compared to isoform d.

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