GTF2IRD1 (NM_005685) Human Untagged Clone

CAT#: SC110071

GTF2IRD1 (untagged)-Human GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 2

Specifications

Product Data

• Type: Human Untagged Clone
• Tag: Tag Free
• Symbol: GTF2IRD1
• Synonyms: BEN; CREAM1; GTF3; hMusTRD1alpha1; MUSTRD1; RBAP2; WBS; WBSCR11; WBSCR12
• Vector: pCMV6-XL5
• E. coli Selection: Ampicillin (100 ug/mL)
• Mammalian Cell Selection: None
• Sequence Data:
  Fully Sequenced ORF

  >OriGene ORF within SC110071 sequence for NM_005685 edited (data generated by NextGen Sequencing)
  ATGGCCTTGCTGGGTAAGCGCTGTGACGTCCCCACCAACGGCTGCGGACCCGACCGCTGG
  AACTCCGCGTTCACCCGCAAAGACGAGATCATCACCAGCCTCGTGTCTGCCTTAGACTCC
  ATGTGCTCAGCGCTGTCCAAACTGAACGCCGAGGTGGCCTGTGTCGCCGTGCACGATGAG
  AGCGCCTTTGTGGTGGGCACAGAGAAGGGGAGAATGTTCCTGAATGCCCGGAAGGAGCTA
  CAGTCAGACTTCCTCAGGTTCTGCCGAGGGCCCCCGTGGAAGGATCCGGAGGCAGAGCAC
  CCCAAGAAGGTGCAGCGGGGCGAGGGTGGAGGCCGTAGCCTCCCTCGGTCCTCCCTGGAA
  CATGGCTCAGATGTGTACCTTCTGCGGAAGATGGTAGAGGAGGTGTTTGATGTTCTTTAT
  AGCGAGGCCCTGGGAAGGGCCAGTGTGGTGCCACTGCCCTATGAGAGGCTGCTCAGGGAG
  CCAGGGCTGCTGGCCGTGCAGGGGCTGCCCGAAGGCCTGGCCTTCCGAAGGCCAGCCGAG
  TATGACCCCAAGGCCCTCATGGCCATCCTGGAACACAGCCACCGCATCCGCTTCAAGCTC
  AAGAGGCCACTTGAGGATGGCGGGCGGGACTCGAAGGCCCTGGTGGAGCTGAACGGTGTC
  TCCCTGATTCCCAAGGGGTCACGGGACTGTGGCCTGCATGGCCAGGCCCCCAAGGTGCCA
  CCCCAGGACCTGCCCCCAACCGCCACCTCCTCCTCCATGGCCAGCTTCCTGTACAGCACG
  GCGCTCCCCAACCACGCCATTCGAGAGCTCAAGCAGGAAGCACCTTCCTGCCCCCTTGCC
  CCCAGCGACCTGGGCCTGAGTCGGCCCATGCCAGAGCCCAAGGCCACCGGTGCCCAAGAC
  TTCTCCGACTGTTGTGGACAGAAGCCCACTGGGCCTGGTGGGCCTCTCATCCAGAACGTC
  CATGCCTCCAAGCGCATTCTCTTCTCCATCGTCCATGACAAGTCAGAGAAGTGGGACGCC
  TTCATAAAGGAAACCGAGGACATCAACACGCTCCGGGAGTGTGTGCAGATCCTGTTTAAC
  AGCAGATATGCGGAAGCCCTGGGCCTGGACCACATGGTCCCCGTGCCCTACCGGAAGATT
  GCCTGTGACCCGGAGGCTGTGGAGATCGTGGGCATCCCGGACAAGATCCCCTTCAAGCGC
  CCCTGCACTTATGGAGTCCCCAAGCTGAAGCGGATCCTGGAGGAGCGCCATAGTATCCAC
  TTCATCATTAAGAGGATGTTTGATGAGCGAATTTTCACAGGGAACAAGTTTACCAAAGAC
  ACCACGAAGCTGGAGCCAGCCAGCCCGCCAGAGGACACCTCTGCAGAGGTCTCTAGGGCC
  ACCGTCCTTGACCTTGCTGGGAATGCTCGGTCAGACAAGGGCAGCATGTCTGAAGACTGT
  GGGCCAGGAACCTCCGGGGAGCTGGGCGGGCTGAGGCCGATCAAAATTGAGCCAGAGGAT
  CTGGACATCATTCAGGTCACCGTCCCAGACCCCTCGCCAACCTCTGAGGAAATGACAGAC
  TCGATGCCTGGGCACCTGCCATCGGAGGATTCTGGTTATGGGATGGAGATGCTGACAGAC
  AAAGGTCTGAGTGAGGACGCGCGGCCCGAGGAGAGGCCCGTGGAGGACAGCCACGGTGAC
  GTGATCCGGCCCCTGCGGAAGCAGGTGGAGCTGCTCTTCAACACACGATACGCCAAGGCC
  ATTGGCATCTCGGAGCCCGTCAAGGTGCCGTACTCCAAGTTTCTGATGCACCCGGAGGAG
  CTGTTTGTGGTGGGACTGCCTGAAGGCATCTCCCTCCGCAGGCCCAACTGCTTCGGGATC
  GCCAAGCTCCGGAAGATTCTGGAGGCCAGCAACAGCATCCAGTTTGTCATCAAGAGGCCC
  GAGCTGCTCACTGAGGGAGTCAAAGAGCCCATCATGGATAGTCAAGAGAGGGATTCCGGG
  GACCCTCTGGTGGACGAGAGCCTGAAGAGACAGGGCTTTCAAGAAAATTATGACGCGAGG
  CTCTCACGGATCGACATCGCCAACACACTAAGGGAGCAGGTCCAGGACCTTTTCAATAAG
  AAATACGGGGAAGCCTTGGGCATCAAGTACCCGGTCCAGGTCCCCTACAAGCGGATCAAG
  AGTAACCCCGGCTCCGTGATCATCGAGGGGCTGCCCCCAGGAATCCCGTTCCGAAAGCCC
  TGTACCTTCGGCTCCCAGAACCTGGAGAGGATTCTTGCTGTGGCTGACAAGATCAAGTTC
  ACAGTCACCAGGCCTTTCCAAGGACTCATCCCAAAGCCTGATGAAGATGACGCCAACAGA
  CTCGGGGAGAAGGTGATCCTGCGGGAGCAGGTGAAGGAACTCTTCAACGAGAAATACGGT
  GAGGCCCTGGGCCTGAACCGGCCGGTGCTGGTCCCTTATAAACTAATCCGGGACAGCCCA
  GACGCCGTGGAGGTCACGGGTCTGCCTGATGACATCCCCTTCCGGAACCCCAACACGTAC
  GACATCCACCGGCTGGAGAAGATCCTGAAGGCCCGAGAGCATGTCCGCATGGTCATCATT
  AACCAGCTCCAACCCTTTGCAGAAATCTGCAATGATGCCAAGGTGCCAGCCAAAGACAGC
  AGCATTCCCAAGCGCAAGAGAAAGCGGGTCTCGGAAGGAAATTCCGTCTCCTCTTCCTCC
  TCGTCTTCCTCTTCCTCGTCCTCTAACCCGGATTCAGTGGCATCGGCCAACCAGATCTCA
  CTCGTGCAATGGCCAATGTACATGGTGGACTATGCCGGCCTGAACGTGCAGCTCCCGGGA
  CCTCTTAATTACTAG
  
  Clone variation with respect to NM_005685.3
  801 c=>t
  5' Read Nucleotide Sequence

  >OriGene 5' read for NM_005685 unedited
  GGTACANNATTTATGTATACGACTTACTTATAGGGCGGNCGCAGAATCGGNACGAGGCGG
  NAGGAGGCTGAGTCCTGGCCGCGGGCCGGGGCCGGGGCGCCGCTGGCAGGAGCGCTTGGG
  GATCCTCCAAGGCGACCATGGCCTTGCTGGGTAAGCGCTGTGACGTCCCCACCAACGGCT
  GCGGACCCGACCGCTGGAACTCCGCGTTCACCCGCAAAGACGAGATCATCACCAGCCTCG
  TGTCTGCCTTAGACTCCATGTGCTCAGCGCTGTCCAAACTGAACGCCGAGGTGGCCTGTG
  TCGCCGTGCACGATGAGAGCGCCTTTGTGGTGGGCACAGAGAAGGGGAGAATGTTCCTGA
  ATGCCCGGAAGGAGCTACAGTCAGACTTCCTCAGGTTCTGCCGAGGGCCCCCGTGGAAGG
  ATCCGGAGGCAGAGCACCCCAAGAAGGTGCAGCGGGGCGAGGGTGGAGGCCGTAGCCTCC
  CTCGGTCCTCCCTGGAACATGGCTCAGATGTGTACCTTCTGCGGAAGATGGCAGAGGAGG
  TGTTTGATGTCTTTCTATAGCGAGGCCCTGGGAAAGGCCAGTGTGGTGCCCACTGCCCTA
  TGAAAGGCTGCTCAGGGAGCCCAGCGCTGTTGGCCGTGCAGGGGCCTGCCCGAAAGCCCT
  GGCCTCTTCGAACGCCACCCCGAGTATGACCCCAAGGGCCTCATGGCCCTCCTGGAACAC
  ACCCCCCCGATCCCGCTCAAGCTCCAGAAGCCACTTGAGGATCGCGGCCGGACTTCCAAG
  GCCTGGTGGAGCTGAACGTTGCCTCCCTGATCCCAAGGGTCCAGGGACTGTGGCCTGCTT
  GCCAGGCCTCCCAAGGGCCCCCCCAGACCTGCCCCACCGCCACTTCTTCTCCAGGGCCCC
  TTCCTGTCCACCCGGCCCTCCCAACCCCCCTTCAGACCCCACCCGAAC
  
  3' Read Nucleotide Sequence

  >OriGene 3' read for NM_005685 unedited
  CAATCTAGTGTCGAGTTTTTTTTTTTTTTTTTTACTTATTTAAAAAGGCCTTGGTGGCAG
  GAATATAGTGTAAAAATCATTGGAAAAACTAAAAGGCATCGATACATATCCGAATATACA
  TTTTGTACATAAATTACATTTCCTTTAGTCTTTCTGAGTGAGGTCCTGATTCAGTACTGA
  GGTCTAGTAATTAAGAGGTCCCGGGAGCTGCACGTTCAGGCCGGCATAGTCCACCATGTA
  CATTGGCCATTGCACGAGTGAGATCTGGTTGGCCGATGCCACTGAATCCGGGTTAGAGGA
  CGAGGAAGAGGAAGACGAGGAGGAAGAGGAGACGGAATTTCCTTCCGAGACCCGCTTTCT
  CTTGCGCTTGGGAATGCTGCTGTCTTTGGCTGGCACCTTGGCATCATTGCAGATTTCTGC
  AAAGGGTTGGAGCTGGTTAATGATGACCATGCGGACATGCTCTCGGGCCTTCAGGATCTT
  CTCCAGCCGGTGGATGTCGTACGTGTTGGGGTTCCGGAAGGGGATGTCATCATGCAGACC
  CGTGACCTCCACGGCGTCTGGGCTGTCCCGGATTAGTTTATAAGGGACCAGCACCGGCCG
  GTTCATGCCCAGGGCCTCACCGTATTTCTCGNTGAAGAGTTCCCTCACCTGCTCCCGCAG
  GATCACCTTTCTTCCCGAGTCTGTTGGCGTCATCCTCATCAAGGCTTTGAGATGAGTCCT
  TGGAAAAGCCTGGAGACTGTGAACTTGATCATGTCAGCCCCAGCAAGAATCCTCTCCAGG
  TTCTGGGACCCGAAGGTCAAGGCTTTCGGAACGGGATTCCTGGGGGCAGCCCCTCGATAT
  TACGAAGCCGGGTTACTCTTGATTCCCTTGTAGGGACCTGTACAGTTCCTTGTTGCCAAG
  CTTCCCGTATCTCTATGAAAGCCCCTGACTGCCCCTTATGGGTGGGAAGCGATCCGAGAA
  CCCCGGCATATTTTTGAAACCGGCTTTTAGTCTTGCACAG
  
• Restriction Sites: NotI-NotI
• ACCN: NM_005685
• ORF Size: 2835 bp
• Insert Size: 3000
• 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).

Reference Data

• RefSeq: NM_005685.2, NP_005676.2
• RefSeq Size: 3078
• RefSeq ORF: 2835
• Locus ID: 9569
• Domains: GTF2I
• Protein Families: Druggable Genome, Transcription Factors
• Protein Pathways: Basal transcription factors
• 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 (2) uses an alternate splice site in the coding region, compared to variant 3. The encoded isoform (2) is shorter compared to isoform 3.