HEXA (NM_000520) Human Untagged Clone

CAT#: SC119813

HEXA (untagged)-Human hexosaminidase A (alpha polypeptide) (HEXA)

Specifications

Product Data

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

  >OriGene ORF within SC119813 sequence for NM_000520 edited (data generated by NextGen Sequencing)
  ATGACAAGCTCCAGGCTTTGGTTTTCGCTGCTGCTGGCGGCAGCGTTCGCAGGACGGGCG
  ACGGCCCTCTGGCCCTGGCCTCAGAACTTCCAAACCTCCGACCAGCGCTACGTCCTTTAC
  CCGAACAACTTTCAATTCCAGTACGATGTCAGCTCGGCCGCGCAGCCCGGCTGCTCAGTC
  CTCGACGAGGCCTTCCAGCGCTATCGTGACCTGCTTTTCGGTTCCGGGTCTTGGCCCCGT
  CCTTACCTCACAGGGAAACGGCATACACTGGAGAAGAATGTGTTGGTTGTCTCTGTAGTC
  ACACCTGGATGTAACCAGCTTCCTACTTTGGAGTCAGTGGAGAATTATACCCTGACCATA
  AATGATGACCAGTGTTTACTCCTCTCTGAGACTGTCTGGGGAGCTCTCCGAGGTCTGGAG
  ACTTTTAGCCAGCTTGTTTGGAAATCTGCTGAGGGCACATTCTTTATCAACAAGACTGAG
  ATTGAGGACTTTCCCCGCTTTCCTCACCGGGGCTTGCTGTTGGATACATCTCGCCATTAC
  CTGCCACTCTCTAGCATCCTGGACACTCTGGATGTCATGGCGTACAATAAATTGAACGTG
  TTCCACTGGCATCTGGTAGATGATCCTTCCTTCCCATATGAGAGCTTCACTTTTCCAGAG
  CTCATGAGAAAGGGGTCCTACAACCCTGTCACCCACATCTACACAGCACAGGATGTGAAG
  GAGGTCATTGAATACGCACGGCTCCGGGGTATCCGTGTGCTTGCAGAGTTTGACACTCCT
  GGCCACACTTTGTCCTGGGGACCAGGTATCCCTGGATTACTGACTCCTTGCTACTCTGGG
  TCTGAGCCCTCTGGCACCTTTGGACCAGTGAATCCCAGTCTCAATAATACCTATGAGTTC
  ATGAGCACATTCTTCTTAGAAGTCAGCTCTGTCTTCCCAGATTTTTATCTTCATCTTGGA
  GGAGATGAGGTTGATTTCACCTGCTGGAAGTCCAACCCAGAGATCCAGGACTTTATGAGG
  AAGAAAGGCTTCGGTGAGGACTTCAAGCAGCTGGAGTCCTTCTACATCCAGACGCTGCTG
  GACATCGTCTCTTCTTATGGCAAGGGCTATGTGGTGTGGCAGGAGGTGTTTGATAATAAA
  GTAAAGATTCAGCCAGACACAATCATACAGGTGTGGCGAGAGGATATTCCAGTGAACTAT
  ATGAAGGAGCTGGAACTGGTCACCAAGGCCGGCTTCCGGGCCCTTCTCTCTGCCCCCTGG
  TACCTGAACCGTATATCCTATGGCCCTGACTGGAAGGATTTCTACGTAGTGGAACCCCTG
  GCATTTGAAGGTACCCCTGAGCAGAAGGCTCTGGTGATTGGTGGAGAGGCTTGTATGTGG
  GGAGAATATGTGGACAACACAAACCTGGTCCCCAGGCTCTGGCCCAGAGCAGGGGCTGTT
  GCCGAAAGGCTGTGGAGCAACAAGTTGACATCTGACCTGACATTTGCCTATGAACGTTTG
  TCACACTTCCGCTGTGAGTTGCTGAGGCGAGGTGTCCAGGCCCAACCCCTCAATGTAGGC
  TTCTGTGAGCAGGAGTTTGAACAGACCTGA
  
  Clone variation with respect to NM_000520.4
  1306 a=>g;1518 a=>g
  5' Read Nucleotide Sequence

  >OriGene 5' read for NM_000520 unedited
  NNNNNTTGTCAGAAATTGTATACGACTCACTATAGGCGGCCGCGAATCGGCACGAGGGAC
  CAGCGGGCCATGACAAGCTCCAGGCTTTGGTTTTCGCTGCTGCTGGCGGCAGCGTTCGCA
  GGACGGGCGACGGCCCTCTGGCCCTGGCCTCAGAACTTCCAAACCTCCGACCAGCGCTAC
  GTCCTTTACCCGAACAACTTTCAATTCCAGTACGATGTCAGCTCGGCCGCGCAGCCCGGC
  TGCTCAGTCCTCGACGAGGCCTTCCAGCGCTATCGTGACCTGCTTTTCGGTTCCGGGTCT
  TGGCCCCGTCCTTACCTCACAGGGAAACGGCATACACTGGAGAAGAATGTGTTGGTTGTC
  TCTGTAGTCACACCTGGATGTAACCAGCTTCCTACTTTGGAGTCAGTGGAGAATTATACC
  CTGACCATAAATGATGACCAGTGTTTACTCCTCTCTGAGACTGTCTGGGGAGCTCTCCGA
  GGTCTGGAGACTTTTAGCCAGCTTGTTTGGAAATCTGCTGAGGGCACATTCTTTATCAAC
  AAGACTGAGATTGAGGACTTTCCCCGCTTTCCTCACCGGGGGCTTGCTGTTGGATACATC
  TCGCCATTACCTGCCACTCTCTAGCATCCTGGACACTCTGGATGTCATGGCGTACAAAAA
  TTGGAACGTGTTCCACTGGCATCTGGGTAGATGATCCTTCCTTCCCATATGAGAGCTTCA
  CTNTTCCAGAGCTATGAGAAAAAGGGGTCCTACACCCTGTCACCCACATCTACACAGACA
  GGATGGGAAAGGGAGGTCATTTGATACGCACGCTNCCGGGGAATCCCGGGTGCTTGGCAA
  AGTTTGACACTCCTGGCCCACTTTGTCCTGGGGACCAGNATCCCTGGATACTGACTCCTG
  CTACTCGGGGTCGGAA
  
  3' Read Nucleotide Sequence

  >OriGene 3' read for NM_000520 unedited
  GCCTACGTGNACCGAGCCGCNATCNAGGATCGAGTAATATATTCTTTTTTTTTTATATAG
  AAAATGCCACATTACTCTTTATTGAATGCGAGCGCCAGCACCGGCCCCTTTCTCTCCAAG
  CACAGGGGCACGCAGGCAAGGGGCACGAAGGCAAGGGGCTCCGTCCCCTGGCCAGGATGC
  AGTGGAAGCCTGGCTCCACTACCATTCACCTACAGTCAGCTCCCTCCTCGGTGCCTGGGG
  CTCAGGTCTGTTCAAACTCCTGCTCACAGAAGCCTACATTGAGGGGTTGGGCCTGGACAC
  CTCGCCTCAGCAACTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAG
  ATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCAGAGCCTGG
  GGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCA
  GAGCCTTCTGCTCAGGGGTACCTTCAAATGCCAGGGGTTCCACTACGTAGAAATCCTTCC
  AGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAATGGCCCGGGAGC
  CGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCCCCCCC
  CCCTGTTGATTGTGTCTGGCTGAATCTTTACTTTTTTATCAAACACCTTCTGCCCNCCCC
  ATAGCCCTTGGCTTCCGCATAGACTATGTCCCTCTGCGTCCGGTTGTTGTAGGCCCTCCC
  CTTTCTTGGAGTCCTCCCCGAAGCCCTTTCTTCCTTTTCAAGTCTCTGGTCCTTGGGTTG
  GCGCTTCCCGCGGGGGGTTCCCACCCTTTTTTTCCCCGCTCGCNCTCTTTCTCTTGGGCC
  TCTCCTCTTCCTTCTCCGAATAAAGCTATATAAAAATAAAAGAAAA
  
• Restriction Sites: NotI-NotI
• ACCN: NM_000520
• Insert Size: 1880 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).
• Product Components: The ORF clone is ion-exchange column purified and shipped in a 2D barcoded Matrix tube containing 10ug of transfection-ready, dried plasmid DNA (reconstitute with 100 ul of water).
• 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_000520.2, NP_000511.1
• RefSeq Size: 2255 bp
• RefSeq ORF: 1590 bp
• Locus ID: 3073
• UniProt ID: P06865
• Cytogenetics: 15q23
• Domains: Glyco_hydro_20
• Protein Families: Druggable Genome
• Protein Pathways: Amino sugar and nucleotide sugar metabolism, Glycosaminoglycan degradation, Glycosphingolipid biosynthesis - ganglio series, Glycosphingolipid biosynthesis - globo series, Lysosome, Metabolic pathways, Other glycan degradation
• Gene Summary: This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
  Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.