Ataxin 1 (ATXN1) (NM_000332) Human Untagged Clone

CAT#: SC314762

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

Specifications

Product Data

• Type: Human Untagged Clone
• Tag: Tag Free
• Symbol: ATXN1
• Synonyms: ATX1; D6S504E; SCA1
• Vector: pCMV6-XL5
• E. coli Selection: Ampicillin (100 ug/mL)
• Mammalian Cell Selection: None
• Sequence Data:
  Fully Sequenced ORF

  >OriGene ORF sequence for NM_000332 edited
  GAAACAGTCACCGTGGAGGGGGGACGGCGAAAAATGAAATCCAACCAAGAGCGGAGCAAC
  GAATGCCTGCCTCCCAAGAAGCGCGAGATCCCCGCCACCAGCCGGTCCTCCGAGGAGAAG
  GCCCCTACCCTGCCCAGCGACAACCACCGGGTGGAGGGCACAGCATGGCTCCCGGGCAAC
  CCTGGTGGCCGGGGCCACGGGGGCGGGAGGCATGGGCCGGCAGGGACCTCGGTGGAGCTT
  GGTTTACAACAGGGAATAGGTTTACACAAAGCATTGTCCACAGGGCTGGACTACTCCCCG
  CCCAGCGCTCCCAGGTCTGTCCCCGTGGCCACCACGCTGCCTGCCGCGTACGCCACCCCG
  CAGCCAGGGACCCCGGTGTCCCCCGTGCAGTACGCTCACCTGCCGCACACCTTCCAGTTC
  ATTGGGTCCTCCCAATACAGTGGAACCTATGCCAGCTTCATCCCATCACAGCTGATCCCC
  CCAACCGCCAACCCCGTCACCAGTGCAGTGGCCTCGGCCGCAGGGGCCACCACTCCATCC
  CAGCGCTCCCAGCTGGAGGCCTATTCCACTCTGCTGGCCAACATGGGCAGTCTGAGCCAG
  ACGCCGGGACACAAGGCTGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAT
  CAGCATCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCACCTCAGCAGG
  GCTCCGGGGCTCATCACCCCGGGGTCCCCCCCACCAGCCCAGCAGAACCAGTACGTCCAC
  ATTTCCAGTTCTCCGCAGAACACCGGCCGCACCGCCTCTCCTCCGGCCATCCCCGTCCAC
  CTCCACCCCCACCAGACGATGATCCCACACACGCTCACCCTGGGGCCCCCCTCCCAGGTC
  GTCATGCAATACGCCGACTCCGGCAGCCACTTTGTCCCTCGGGAGGCCACCAAGAAAGCT
  GAGAGCAGCCGGCTGCAGCAGGCCATCCAGGCCAAGGAGGTCCTGAACGGTGAGATGGAG
  AAGAGCCGGCGGTACGGGGCCCCGTCCTCAGCCGACCTGGGCCTGGGCAAGGCAGGCGGC
  AAGTCGGTTCCTCACCCGTACGAGTCCAGGCACGTGGTGGTCCACCCGAGCCCCTCAGAC
  TACAGCAGTCGTGATCCTTCGGGGGTCCGGGCCTCTGTGATGGTCCTGCCCAACAGCAAC
  ACGCCCGCAGCTGACCTGGAGGTGCAACAGGCCACTCATCGTGAAGCCTCCCCTTCTACC
  CTCAACGACAAAAGTGGCCTGCATTTAGGGAAGCCTGGCCACCGGTCCTACGCGCTCTCA
  CCCCACACGGTCATTCAGACCACACACAGTGCTTCAGAGCCACTCCCGGTGGGACTGCCA
  GCCACGGCCTTCTACGCAGGGACTCAACCCCCTGTCATCGGCTACCTGAGCGGCCAGCAG
  CAAGCAATCACCTACGCCGGCAGCCTGCCCCAGCACCTGGTGATCCCCGGCACACAGCCC
  CTGCTCATCCCGGTCGGCAGCACTGACATGGAAGCGTCGGGGGCAGCCCCGGCCATAGTC
  ACGTCATCCCCCCAGTTTGCTGCAGTGCCTCACACGTTCGTCACCACCGCCCTTCCCAAG
  AGCGAGAACTTCAACCCTGAGGCCCTGGTCACCCAGGCCGCCTACCCAGCCATGGTGCAG
  GCCCAGATCCACCTGCCTGTGGTGCAGTCCGTGGCCTCCCCGGCGGCGGCTCCCCCTACG
  CTGCCTCCCTACTTCATGAAAGGCTCCATCATCCAGTTGGCCAACGGGGAGCTAAAGAAG
  GTGGAAGACTTAAAAACAGAAGATTTCATCCAGAGTGCAGAGATAAGCAACGACCTGAAG
  ATCGACTCCAGCACCGTAGAGAGGATTGAAGACAGCCATAGCCCGGGCGTGGCCGTGATA
  CAGTTCGCCGTCGGGGAGCACCGAGCCCAGGTCAGCGTTGAAGTTTTGGTAGAGTATCCT
  TTTTTTGTGTTTGGACAGGGCTGGTCATCCTGCTGTCCGGAGAGAACCAGCCAGCTCTTT
  GATTTGCCGTGTTCCAAACTCTCAGTTGGGGATGTCTGCATCTCGCTTACCCTCAAGAAC
  CTGAAGAACGGCTCTGTTAAAAAGGGCCAGCCCGTGGATCCCGCCAGCGTCCTGCTGAAG
  CACTCAAAGGCCGACGGCCTGGCGGGCAGCAGACACAGGTATGCCGAGCAGGAAAACGGA
  ATCAACCAGGGGAGTGCCCAGATGCTCTCTGAGAATGGCGAACTGAAGTTTCCAGAGAAA
  ATGGGATTGCCTGCAGCGCCCTTCCTCACCAAAATAGAACCCAGCAAGCCCGCGGCAACG
  AGGAAGAGGAGGTGGTCGGCGCCAGAGAGCCGCAAACTGGAGAAGTCAGAAGACGAACCA
  CCTTTGACTCTTCCTAAGCCTTCTCTAATTCCTCAGGAGGTTAAGATTTGCATTGAAGGC
  CGGTCTAATGTAGGCAAGTAGAGGCAGCGTGGGGGAAAGGAAACGTG
  
• Restriction Sites: Please inquire
• ACCN: NM_000332
• Insert Size: 2500 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).
• OTI Annotation: The ORF of this clone has been fully sequenced and found to be a perfect match to NM_000332.2.
• 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_000332.2, NP_000323.2
• RefSeq Size: 10692 bp
• RefSeq ORF: 2448 bp
• Locus ID: 6310
• Cytogenetics: 6p22.3
• Domains: AXH
• 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 (1) encodes multiple distinct proteins due to the use of alternative translation initiation codons. The longer 815 aa protein (ATXN1, PMID:23705062) represents the canonical protein, while a shorter protein (Alt-ATXN1, PMID:23705062) that uses a different reading frame has also been described. This RefSeq represents the longer protein, ATXN1. Variant 2 also encodes 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.