Human cDNA
Basic Informations | Advanced Informations |
Clone information |
Clone ID | hMU004863 |
Korean Unigene Clone | IRAT-52-F03 | |
Original Clone | IRAK-68-E02 | |
Vector | pCMV-SPORT6 | |
Gene | ATXN3 | |
Gene Description | ataxin 3 | |
Clone sequence size | 1373 (bp) | |
Fullness | F | |
Mutation | Insertion | |
Amino acid - mutation | ||
Price | \77,000 (부가세 포함가) |
Clone information |
5' end sequenced Length | 1373 |
Sequence | CCACGCGTCCGCATGGAGTCCATCTTCCACGAGAAACAAGAAGGC TCACTTTGTGCTCAACATTGCCTGAATAACTTATTGCAAGGAGAA TATTTTAGCCCCGTGGAATTATCCTCAATTGCACATCAGCTGGAT GAGGAGGAGAGGATGAGAATGGCAGAAGGAGGAGTTACTAGTGAA GATTATCGCACGTTTTTACAGCAGCCTTCTGGAAATATGGATGAC AGTGGTTTTTTCTCTATTCAGGTTATAAGCAATGCCTTGAAAGTT TGGGGTTTAGAACTAATCCTGTTCAACAGTCCAGAGTATCAGAGG CTCAGGATCGATCCTATAAATGAAAGATCATTTATATGCAATTAT AAGGAACACTGGTTTACAGTTAGAAAATTAGGAAAACAGTGGTTT AACTTGAATTCTCTCTTGACGGGTCCAGAATTAATATCAGATACA TATCTTGCACTTTTCTTGGCTCAATTACAACAGGAAGGTTATTCT ATATTTGTCGTTAAGGGTGATCTGCCAGATTGCGAAGCTGACCAA CTCCTGCAGATGATTAGGGTCCAACAGATGCATCGACCAAAACTT ATTGGAGAAGAATTAGCACAACTAAAAGAGCAAAGAGTCCATAAA ACAGACCTGGAACGAGTGTTAGAAGCAAATGATGGCTCAGGAATG TTAGACGAAGATGAGGAGGATTTGCAGAGGGCTCTGGCACTAAGT CGCCAAGAAATTGACATGGAAGATGAGGAAGCAGATCTCCGCAGG GCTATTCAGCTAAGTATGCAAGGTAGTTCCAGAAACATATCTCAA GATATGACACAGACATCAGGTACAAATCTTACTTCAGAAGAGCTT CGGAAGAGACGAGAAGCCTACTTTGAAAAACAGCAGCAAAAGCAG CAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CAGCAGCAGGGGGACCTATCAGGACAGAGTTCACATCCATGTGAA AGGCCAGCCACCAGTTCAGGAGCACTTGGGAGTGATCTAGGTGAT GCTATGAGTGAAGAAGACATGCTTCAGGCAGCTGTGACCATGTCT TTAGAAACTGTCAGAAATGATTTGAAAACAGAAGGAAAAAAATAA TACCTTTAAAAAATAATTTAGATATTCATACTTTCCAACATTATC CTGTGTGATTACAGCATAGGGTCCACTTTGGTAATGTGTCAAAGA GATGAGGAAATAAGACTTTTAGCGGTTTGCAAACAAAATGATGGG AAAGTGGAACAATGCGTCGGTTGTAGGACTAAATAATGATCTTCC AAATATTAGCCAAAGAGGCATTCAGCAATTAAAGACATTTAAAAT AGTTTTCTAAAAAAAAAAAAAAA |
vector name | |
vector source | |
enzyme site(DNA insert) | |
sequencing primer | |
vector sequence | |
Gene Location | Chromosome | 14 | |||||||||||
Location | 14q21 | ||||||||||||
Strand |
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Database links | RefSeq | NM_004993 | |||||||||||
KEGG Genes | 4287 | ||||||||||||
GeneCard | ATXN3 |
sequence | sequence of CDS | ATGGAGTCCATCTTCCACGAGAAACAAGAAGGCTCACTTTGTGCTCAACATTGCCTGAATAACTTATTGCAAGGAGAATATTTTAGCCCTGTGGAATTATCCTCAATTGCACATCAGCTGGATGAGGAGGAGAGGATGAGAATGGCAGAAGGAGGAGTTACTAGTGAAGATTATCGCACGTTTTTACAGCAGCCTTCTGGAAATATGGATGACAGTGGTTTTTTCTCTATTCAGGTTATAAGCAATGCCTTGAAAGTTTGGGGTTTAGAACTAATCCTGTTCAACAGTCCAGAGTATCAGAGGCTCAGGATCGATCCTATAAATGAAAGATCATTTATATGCAATTATAAGGAACACTGGTTTACAGTTAGAAAATTAGGAAAACAGTGGTTTAACTTGAATTCTCTCTTGACGGGTCCAGAATTAATATCAGATACATATCTTGCACTTTTCTTGGCTCAATTACAACAGGAAGGTTATTCTATATTTGTCGTTAAGGGTGATCTGCCAGATTGCGAAGCTGACCAACTCCTGCAGATGATTAGGGTCCAACAGATGCATCGACCAAAACTTATTGGAGAAGAATTAGCACAACTAAAAGAGCAAAGAGTCCATAAAACAGACCTGGAACGAGTGTTAGAAGCAAATGATGGCTCAGGAATGTTAGACGAAGATGAGGAGGATTTGCAGAGGGCTCTGGCACTAAGTCGCCAAGAAATTGACATGGAAGATGAGGAAGCAGATCTCCGCAGGGCTATTCAGCTAAGTATGCAAGGTAGTTCCAGAAACATATCTCAAGATATGACACAGACATCAGGTACAAATCTTACTTCAGAAGAGCTTCGGAAGAGACGAGAAGCCTACTTTGAAAAACAGCAGCAAAAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGGGGGACCTATCAGGACAGAGTTCACATCCATGTGAAAGGCCAGCCACCAGTTCAGGAGCACTTGGGAGTGATCTAGGTGATGCTATGAGTGAAGAAGACATGCTTCAGGCAGCTGTGACCATGTCTTTAGAAACTGTCAGAAATGATTTGAAAACAGAAGGAAAAAAATAA |
sequence of protein | MESIFHEKQEGSLCAQHCLNNLLQGEYFSPVELSSIAHQLDEEERMRMAEGGVTSEDYRTFLQQPSGNMDDSGFFSIQVISNALKVWGLELILFNSPEYQRLRIDPINERSFICNYKEHWFTVRKLGKQWFNLNSLLTGPELISDTYLALFLAQLQQEGYSIFVVKGDLPDCEADQLLQMIRVQQMHRPKLIGEELAQLKEQRVHKTDLERVLEANDGSGMLDEDEEDLQRALALSRQEIDMEDEEADLRRAIQLSMQGSSRNISQDMTQTSGTNLTSEELRKRREAYFEKQQQKQQQQQQQQQQGDLSGQSSHPCERPATSSGALGSDLGDAMSEEDMLQAAVTMSLETVRNDLKTEGKK | |
Database link | RefSeq | NM_004993 |
UniProt | ||
CCDS |
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Gene Ontology Provided by GOA (www.ebi.ac.uk/GOA)
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Disease | Summary |
Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2009] |
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