Ataxin 1 (ATXN1) (NM_001128164) Human Untagged Clone

CAT#: SC323209

ATXN1 (untagged)-Human ataxin 1 (ATXN1), transcript variant 2

Specifications

Product Data

• Type: Human Untagged Clone
• Tag: Tag Free
• Symbol: ATXN1
• Synonyms: ATX1; D6S504E; SCA1
• Vector: pCMV6-Entry
• E. coli Selection: Kanamycin (25 ug/mL)
• Mammalian Cell Selection: Neomycin
• Sequence Data:
  Fully Sequenced ORF

  >NCBI ORF sequence for NM_001128164, the custom clone sequence may differ by one or more nucleotides
  
  
  ATGAAATCCAACCAAGAGCGGAGCAACGAATGCCTGCCTCCCAAGAAGCGCGAGATCCCCGCCACCAGCC
  GGTCCTCCGAGGAGAAGGCCCCTACCCTGCCCAGCGACAACCACCGGGTGGAGGGCACAGCATGGCTCCC
  GGGCAACCCTGGTGGCCGGGGCCACGGGGGCGGGAGGCATGGGCCGGCAGGGACCTCGGTGGAGCTTGGT
  TTACAACAGGGAATAGGTTTACACAAAGCATTGTCCACAGGGCTGGACTACTCCCCGCCCAGCGCTCCCA
  GGTCTGTCCCCGTGGCCACCACGCTGCCTGCCGCGTACGCCACCCCGCAGCCAGGGACCCCGGTGTCCCC
  CGTGCAGTACGCTCACCTGCCGCACACCTTCCAGTTCATTGGGTCCTCCCAATACAGTGGAACCTATGCC
  AGCTTCATCCCATCACAGCTGATCCCCCCAACCGCCAACCCCGTCACCAGTGCAGTGGCCTCGGCCGCAG
  GGGCCACCACTCCATCCCAGCGCTCCCAGCTGGAGGCCTATTCCACTCTGCTGGCCAACATGGGCAGTCT
  GAGCCAGACGCCGGGACACAAGGCTGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCATCAG
  CATCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCACCTCAGCAGGGCTCCGGGGCTCA
  TCACCCCGGGGTCCCCCCCACCAGCCCAGCAGAACCAGTACGTCCACATTTCCAGTTCTCCGCAGAACAC
  CGGCCGCACCGCCTCTCCTCCGGCCATCCCCGTCCACCTCCACCCCCACCAGACGATGATCCCACACACG
  CTCACCCTGGGGCCCCCCTCCCAGGTCGTCATGCAATACGCCGACTCCGGCAGCCACTTTGTCCCTCGGG
  AGGCCACCAAGAAAGCTGAGAGCAGCCGGCTGCAGCAGGCCATCCAGGCCAAGGAGGTCCTGAACGGTGA
  GATGGAGAAGAGCCGGCGGTACGGGGCCCCGTCCTCAGCCGACCTGGGCCTGGGCAAGGCAGGCGGCAAG
  TCGGTTCCTCACCCGTACGAGTCCAGGCACGTGGTGGTCCACCCGAGCCCCTCAGACTACAGCAGTCGTG
  ATCCTTCGGGGGTCCGGGCCTCTGTGATGGTCCTGCCCAACAGCAACACGCCCGCAGCTGACCTGGAGGT
  GCAACAGGCCACTCATCGTGAAGCCTCCCCTTCTACCCTCAACGACAAAAGTGGCCTGCATTTAGGGAAG
  CCTGGCCACCGGTCCTACGCGCTCTCACCCCACACGGTCATTCAGACCACACACAGTGCTTCAGAGCCAC
  TCCCGGTGGGACTGCCAGCCACGGCCTTCTACGCAGGGACTCAACCCCCTGTCATCGGCTACCTGAGCGG
  CCAGCAGCAAGCAATCACCTACGCCGGCAGCCTGCCCCAGCACCTGGTGATCCCCGGCACACAGCCCCTG
  CTCATCCCGGTCGGCAGCACTGACATGGAAGCGTCGGGGGCAGCCCCGGCCATAGTCACGTCATCCCCCC
  AGTTTGCTGCAGTGCCTCACACGTTCGTCACCACCGCCCTTCCCAAGAGCGAGAACTTCAACCCTGAGGC
  CCTGGTCACCCAGGCCGCCTACCCAGCCATGGTGCAGGCCCAGATCCACCTGCCTGTGGTGCAGTCCGTG
  GCCTCCCCGGCGGCGGCTCCCCCTACGCTGCCTCCCTACTTCATGAAAGGCTCCATCATCCAGTTGGCCA
  ACGGGGAGCTAAAGAAGGTGGAAGACTTAAAAACAGAAGATTTCATCCAGAGTGCAGAGATAAGCAACGA
  CCTGAAGATCGACTCCAGCACCGTAGAGAGGATTGAAGACAGCCATAGCCCGGGCGTGGCCGTGATACAG
  TTCGCCGTCGGGGAGCACCGAGCCCAGGTCAGCGTTGAAGTTTTGGTAGAGTATCCTTTTTTTGTGTTTG
  GACAGGGCTGGTCATCCTGCTGTCCGGAGAGAACCAGCCAGCTCTTTGATTTGCCGTGTTCCAAACTCTC
  AGTTGGGGATGTCTGCATCTCGCTTACCCTCAAGAACCTGAAGAACGGCTCTGTTAAAAAGGGCCAGCCC
  GTGGATCCCGCCAGCGTCCTGCTGAAGCACTCAAAGGCCGACGGCCTGGCGGGCAGCAGACACAGGTATG
  CCGAGCAGGAAAACGGAATCAACCAGGGGAGTGCCCAGATGCTCTCTGAGAATGGCGAACTGAAGTTTCC
  AGAGAAAATGGGATTGCCTGCAGCGCCCTTCCTCACCAAAATAGAACCCAGCAAGCCCGCGGCAACGAGG
  AAGAGGAGGTGGTCGGCGCCAGAGAGCCGCAAACTGGAGAAGTCAGAAGACGAACCACCTTTGACTCTTC
  CTAAGCCTTCTCTAATTCCTCAGGAGGTTAAGATTTGCATTGAAGGCCGGTCTAATGTAGGCAAGTAG
  
  
• Restriction Sites: SgfI-MluI
• ACCN: NM_001128164
• 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).
• OTI Annotation: This TrueClone is provided through our Custom Cloning Process that includes sub-cloning into OriGene's pCMV6 vector and full sequencing to provide a non-variant match to the expected reference without frameshifts, and is delivered as lyophilized plasmid DNA.
• Product Components: The cDNA clone is shipped in a 2-D bar-coded Matrix tube as dried plasmid DNA. The package also includes 100 pmols of both the corresponding 5' and 3' vector primers in separate vials. Every lot of primer is tested to provide clean sequencing of OriGene TrueClones.
• 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_001128164.1, NP_001121636.1
• RefSeq Size: 10587 bp
• RefSeq ORF: 2448 bp
• Locus ID: 6310
• Cytogenetics: 6p22.3
• Gene Summary: 'The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 40-83 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). Alternative splicing results in multiple transcript variants, with one variant encoding multiple distinct proteins, ATXN1 and Alt-ATXN1, due to the use of overlapping alternate reading frames. [provided by RefSeq, Nov 2017]'
  Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. This variant encodes the same protein represented by the longer protein encoded by variant 1, ATXN1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments.