Sacsin (SACS) (NM_014363) Human 3' UTR Clone

Specifications

Product Data
Product Name	Sacsin (SACS) (NM_014363) Human 3' UTR Clone
Vector	pMirTarget
Synonyms	ARSACS; DNAJC29; PPP1R138; SPAX6
ACCN	NM_014363
Insert Size	1336 bp
Sequence Data	Insert Sequence (showhide) >SC213858 3’UTR clone of NM_014363 The sequence shown below is from the reference sequence of NM_014363. The complete sequence of this clone may contain minor differences, such as SNPs. Blue=Stop Codon Red=Cloning site GGCAAGTTGGACGCCCGCAAGATCCGCGAGATTCTCATTAAGGCCAAGAAGGGCGGAAAGATCGCCGTG TAACAATTGGCAGAGCTCAGAATTCAAGCGATCGCC CTTGAAAATTTTATGCAACAAAAAGTGTGAAGATATTTAACGAAAAAAAAGGTAGATCTTGAATGTGTT GTAGCACGAATAAATTGCTGTACTTCATTAAGCTTCATTGCCAATTAGCTAGGAATTGTTAAGCACATT GCAGATTGTTCTTGGAGAATTCTGGAGTTGTTATGAACATGAATACCAACGGAAAACCTTAACTGAATC TAAAAGAAAACTATTTTGAAGATGGTGGTGAGCTGCAAAATAGCTGGATGGATTTGAATGATTGGGATG ATACATCATTGAACTGCACTTTATATAACCAAAGCTTAGCAGTTTGTTAGATAAGAGTCTATGTATGTC TCTGGTTAGGATGAAGTTAATTTTATGTTTTTAACATGGTATTTTTGAAGGAGCTAATGAAACACTGGA CATATAATTGGTTTAAACATAAGGGGAATTAAGTCTTTGTAGTCTGTCATTTTTTTAAGTGGATCCTCT TGGATGCGTTATTTTCTCATCAGCTGGCTCTGATCATGAATTTGTTGTAATTTTATGTTGTACTCAGTG CATTTAAGAAATGGTAGAGTATTTTAATCCTATTACTTGACTAAGAGTGTGAAGGTAGTACTTTTTAGA GTGCACTGAGTGCACTTTACATCTTTATTTAAATTTTTTTTTAACATCTTATGTTTACAGGCTTCCTGT TTGATGAAGATAGCAACGGAAAACTCAAAATGGTGGCAGTTCTTATTACCAGTTGTTAGTATTGTTTCT GGAAACTGCTTGCCAAGACAACATTTATTAACTGTTAGAACACTTGCTTTATGTTTGTGTGTACATATT TTCCACAAATGTTATAATTTATATAGTGTGGTTGAACAGGATGCAATCTTTTGTTGTCTAAAGGTGCTG CAGTTAAAAAAAAAACAACCTTTTCTTTCAATATGGCATGTAGTGGAGTTTTTTTAACTTTAAAAACAT CAAAAATTGTTAAAATCATTGTGTTATCTAGTAGTTTATAATTATCGGCTTATATTTCCCCATGAATGA TCAGAACTGACATTTAATTCATGTTTGTCTCGCCATGCTTCTTTACTTTAACATATTTCTTTTGCAGAA TGTAAAAGGTAATGATAATTAGTTTATATAAGTGTACTGGCTGTAAATGATGCTAAATATACTTTATGC AATTAAGGGCTTACAGAACATGTTGAAACTTTTTTTACTTTTATTGGGAATAAGGAATGTTTGCACCTC CACATTTTATTGCTTCTGGATGTGAAATCATGTAATTATTTCTGCTGTTATATAAAGTGCCATACTTTT AATAAAGGAAAATGTACATATGAAA ACGCGTAAGCGGCCGCGGCATCTAGATTCGAAGAAAATGACCGACCAAGCGACGCCCAACCTGCCATCA CGAGATTTCGATTCCACCGCCGCCTTCTATGAAAGG
Restriction Sites	SgfI-MluI
OTI Disclaimer	Our molecular clone sequence data has been matched to the sequence identifier above as a point of reference. Note that the complete sequence of this clone is largely the same as the reference sequence but may contain minor differences , e.g., single nucleotide polymorphisms (SNPs).
Reference Data
RefSeq	NM_014363.6
Synonyms	ARSACS; DNAJC29; PPP1R138; SPAX6
Summary	This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that "the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins" (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
Locus ID	26278
MW	52

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