GATA1 (NM_002049) Human Mutant ORF Clone

CAT#: RC402612

GATA1 Mutant (R216Q), Myc-DDK-tagged ORF clone of Homo sapiens GATA binding protein 1 (globin transcription factor 1) (GATA1) as transfection-ready DNA

Specifications

Product Data

• Mutation Description: R216Q
• Affected Codon#: 216
• Affected NT#: 647
• Tag: Myc-DDK
• Effect: Thromboyopeni 1
• Symbol: GATA1
• Synonyms: ERYF1; GATA-1; GF-1; GF1; NF-E1; NFE1; XLANP; XLTDA; XLTT
• E. coli Selection: Kanamycin (25 ug/mL)
• Mammalian Cell Selection: Neomycin
• Vector: pCMV6-Entry
• ACCN: NM_002049
• ORF Size: 1239 bp
• Sequence Data:
  ORF Nucleotide Sequence

  >RC402612 representing NM_002049
  Red=Cloning site Blue=ORF Green=Tags(s)
  
  TTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTGGATCCGGTACCGAGGAGATCTGCC
  GCCGCGATCGCC
  
  ATGGAGTTCCCTGGCCTGGGGTCCCTGGGGACCTCAGAGCCCCTCCCCCAGTTTGTGGATCCTGCTCTGG
  TGTCCTCCACACCAGAATCAGGGGTTTTCTTCCCCTCTGGGCCTGAGGGCTTGGATGCAGCAGCTTCCTC
  CACTGCCCCGAGCACAGCCACCGCTGCAGCTGCGGCACTGGCCTACTACAGGGACGCTGAGGCCTACAGA
  CACTCCCCAGTCTTTCAGGTGTACCCATTGCTCAACTGTATGGAGGGGATCCCAGGGGGCTCACCATATG
  CCGGCTGGGCCTACGGCAAGACGGGGCTCTACCCTGCCTCAACTGTGTGTCCCACCCGCGAGGACTCTCC
  TCCCCAGGCCGTGGAAGATCTGGATGGAAAAGGCAGCACCAGCTTCCTGGAGACTTTGAAGACAGAGCGG
  CTGAGCCCAGACCTCCTGACCCTGGGACCTGCACTGCCTTCATCACTCCCTGTCCCCAATAGTGCTTATG
  GGGGCCCTGACTTTTCCAGTACCTTCTTTTCTCCCACCGGGAGCCCCCTCAATTCAGCAGCCTATTCCTC
  TCCCAAGCTTCGTGGAACTCTCCCCCTGCCTCCCTGTGAGGCCAGGGAGTGTGTGAACTGCGGAGCAACA
  GCCACTCCACTGTGGCAGAGGGACAGGACAGGCCACTACCTATGCAACGCCTGCGGCCTCTATCACAAGA
  TGAATGGGCAGAACAGGCCCCTCATCCGGCCCAAGAAGCGCCTGATTGTCAGTAAACGGGCAGGTACTCA
  GTGCACCAACTGCCAGACGACCACCACGACACTGTGGCGGAGAAATGCCAGTGGGGATCCCGTGTGCAAT
  GCCTGCGGCCTCTACTACAAGCTACACCAGGTGAACCGGCCACTGACCATGCGGAAGGATGGTATTCAGA
  CTCGAAACCGCAAGGCATCTGGAAAAGGGAAAAAGAAACGGGGCTCCAGTCTGGGAGGCACAGGAGCAGC
  CGAAGGACCAGCTGGTGGCTTTATGGTGGTGGCTGGGGGCAGCGGTAGCGGGAATTGTGGGGAGGTGGCT
  TCAGGCCTGACACTGGGCCCCCCAGGTACTGCCCATCTCTACCAAGGCCTGGGCCCTGTGGTGCTGTCAG
  GGCCTGTTAGCCACCTCATGCCTTTCCCTGGACCCCTACTGGGCTCACCCACGGGCTCCTTCCCCACAGG
  CCCCATGCCCCCCACCACCAGCACTACTGTGGTGGCTCCGCTCAGCTCA
  
  AGCGGACCGACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCC
  TGGATTACAAGGATGACGACGA TAAGGTTTAA
  Protein Sequence

  >RC402612 representing NM_002049
  Red=Cloning site Green=Tags(s)
  
  MEFPGLGSLGTSEPLPQFVDPALVSSTPESGVFFPSGPEGLDAAASSTAPSTATAAAAALAYYRDAEAYR
  HSPVFQVYPLLNCMEGIPGGSPYAGWAYGKTGLYPASTVCPTREDSPPQAVEDLDGKGSTSFLETLKTER
  LSPDLLTLGPALPSSLPVPNSAYGGPDFSSTFFSPTGSPLNSAAYSSPKLRGTLPLPPCEARECVNCGAT
  ATPLWQRDRTGHYLCNACGLYHKMNGQNRPLIRPKKRLIVSKRAGTQCTNCQTTTTTLWRRNASGDPVCN
  ACGLYYKLHQVNRPLTMRKDGIQTRNRKASGKGKKKRGSSLGGTGAAEGPAGGFMVVAGGSGSGNCGEVA
  SGLTLGPPGTAHLYQGLGPVVLSGPVSHLMPFPGPLLGSPTGSFPTGPMPPTTSTTVVAPLSS
  
  SGPTRTRRLEQKLISEEDLAANDILDYKDDDDKV
• Restriction Sites: SgfI-MluI Cloning Scheme for this gene
• 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, transfection-ready dried plasmid DNA, and shipped with 2 vector sequencing primers.

Reference Data

• RefSeq: NP_002040
• RefSeq Size: 1239 bp
• RefSeq ORF: 1242 bp
• Locus ID: 2623
• Cytogenetics: Xp11.23
• Domains: GATA
• Protein Families: Adult stem cells, Druggable Genome, ES Cell Differentiation/IPS, Transcription Factors
• MW: 45.4 kDa
• Gene Summary: 'This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008]'