GATA1 (NM_002049) Human Mutant ORF Clone

Specifications

Product Data
Product Name	GATA1 (NM_002049) Human Mutant ORF Clone
Mutation Description	D218Y
Affected Codon#	218
Affected NT#	652
Nucleotide Mutation	GATA1 Mutant (D218Y), Myc-DDK-tagged ORF clone of Homo sapiens GATA binding protein 1 (globin transcription factor 1) (GATA1) as transfection-ready DNA
Effect	Thromboyopeni 1
Synonyms	ERYF1; GATA-1; GF-1; GF1; NF-E1; NFE1; XLANP; XLTDA; XLTT
Vector	pCMV6-Entry
Tag	Myc-DDK
ACCN	NM_002049
ORF Size	1239 bp
Sequence Data	ORF Nucleotide Sequence (showhide) >RC402615 representing NM_002049 Red=Cloning site Blue=ORF Green=Tags(s) TTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTGGATCCGGTACCGAGGAGATCTGCC GCCGCGATCGCC ATGGAGTTCCCTGGCCTGGGGTCCCTGGGGACCTCAGAGCCCCTCCCCCAGTTTGTGGATCCTGCTCTGG TGTCCTCCACACCAGAATCAGGGGTTTTCTTCCCCTCTGGGCCTGAGGGCTTGGATGCAGCAGCTTCCTC CACTGCCCCGAGCACAGCCACCGCTGCAGCTGCGGCACTGGCCTACTACAGGGACGCTGAGGCCTACAGA CACTCCCCAGTCTTTCAGGTGTACCCATTGCTCAACTGTATGGAGGGGATCCCAGGGGGCTCACCATATG CCGGCTGGGCCTACGGCAAGACGGGGCTCTACCCTGCCTCAACTGTGTGTCCCACCCGCGAGGACTCTCC TCCCCAGGCCGTGGAAGATCTGGATGGAAAAGGCAGCACCAGCTTCCTGGAGACTTTGAAGACAGAGCGG CTGAGCCCAGACCTCCTGACCCTGGGACCTGCACTGCCTTCATCACTCCCTGTCCCCAATAGTGCTTATG GGGGCCCTGACTTTTCCAGTACCTTCTTTTCTCCCACCGGGAGCCCCCTCAATTCAGCAGCCTATTCCTC TCCCAAGCTTCGTGGAACTCTCCCCCTGCCTCCCTGTGAGGCCAGGGAGTGTGTGAACTGCGGAGCAACA GCCACTCCACTGTGGCGGAGGTACAGGACAGGCCACTACCTATGCAACGCCTGCGGCCTCTATCACAAGA TGAATGGGCAGAACAGGCCCCTCATCCGGCCCAAGAAGCGCCTGATTGTCAGTAAACGGGCAGGTACTCA GTGCACCAACTGCCAGACGACCACCACGACACTGTGGCGGAGAAATGCCAGTGGGGATCCCGTGTGCAAT GCCTGCGGCCTCTACTACAAGCTACACCAGGTGAACCGGCCACTGACCATGCGGAAGGATGGTATTCAGA CTCGAAACCGCAAGGCATCTGGAAAAGGGAAAAAGAAACGGGGCTCCAGTCTGGGAGGCACAGGAGCAGC CGAAGGACCAGCTGGTGGCTTTATGGTGGTGGCTGGGGGCAGCGGTAGCGGGAATTGTGGGGAGGTGGCT TCAGGCCTGACACTGGGCCCCCCAGGTACTGCCCATCTCTACCAAGGCCTGGGCCCTGTGGTGCTGTCAG GGCCTGTTAGCCACCTCATGCCTTTCCCTGGACCCCTACTGGGCTCACCCACGGGCTCCTTCCCCACAGG CCCCATGCCCCCCACCACCAGCACTACTGTGGTGGCTCCGCTCAGCTCA AGCGGACCGACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCC TGGATTACAAGGATGACGACGA TAAGGTTTAA Protein Sequence (showhide) >RC402615 representing NM_002049 Red=Cloning site Green=Tags(s) MEFPGLGSLGTSEPLPQFVDPALVSSTPESGVFFPSGPEGLDAAASSTAPSTATAAAAALAYYRDAEAYR HSPVFQVYPLLNCMEGIPGGSPYAGWAYGKTGLYPASTVCPTREDSPPQAVEDLDGKGSTSFLETLKTER LSPDLLTLGPALPSSLPVPNSAYGGPDFSSTFFSPTGSPLNSAAYSSPKLRGTLPLPPCEARECVNCGAT ATPLWRRYRTGHYLCNACGLYHKMNGQNRPLIRPKKRLIVSKRAGTQCTNCQTTTTTLWRRNASGDPVCN 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.
Reference Data
RefSeq	NP_002040
RefSeq Size	1239 bp
RefSeq ORF	1242 bp
Locus ID	2623
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]

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