TOR1A cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	TOR1A
Entrez Gene ID	1861
Full Name	torsin family 1 member A
Synonyms	DQ2,DYT1
General protein information	Preferred Names torsin family 1 member A Names torsin-1A dystonia 1 protein dystonia 1, torsion (autosomal dominant; torsin A) torsin A torsin ATPase 1 torsin ATPase-1A
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 9 Map Location: 9q34.11
Summary	The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008].
Disorder MIM:	605204
Disorder Html:	Dystonia-1, torsion, 128100 (3); {Dystonia-1, modifier of} (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_000113.3	NP_000104.1	torsin-1A precursor
NM_000113.2	NP_000104.1	torsin-1A precursor

Pathways from BioSystems

Homologies

Mus musculus (house mouse)	Tor1a	NP_659133.1
Drosophila melanogaster (fruit fly)	Torsin	NP_572178.1
Xenopus tropicalis (tropical clawed frog)	tor1b	NP_001016237.1
Homo sapiens (human)	TOR1A	NP_000104.1
Pan troglodytes (chimpanzee)	TOR1A	XP_001164380.2
Canis lupus familiaris (dog)	TOR1A	XP_548417.3
Bos taurus (cattle)	TOR1A	NP_001092528.1
Rattus norvegicus (Norway rat)	Tor1a	NP_695215.2
Gallus gallus (chicken)	TOR1A	NP_001025858.1
Anopheles gambiae (African malaria mosquito)	AgaP_AGAP009547	XP_310142.4

Gene Ontology
Bibliography

Related articles in PubMed

Exploring the Interaction Between eIF2? Dysregulation, Acute Endoplasmic Reticulum Stress and DYT1 Dystonia in the Mammalian Brain.
Beauvais G, Rodriguez-Losada N, Ying L, Zakirova Z, Watson JL, Readhead B, Gadue P, French DL, Ehrlich ME, Gonzalez-Alegre P
Neuroscience371455-468(2017 Dec)

Phosphodiesterase-10A Inverse Changes in Striatopallidal and Striatoentopeduncular Pathways of a Transgenic Mouse Model of
D'Angelo V, Castelli V, Giorgi M, Cardarelli S, Saverioni I, Palumbo F, Bonsi P, Pisani A, Giamp? C, Sorge R, Biagioni S, Fusco FR, Sancesario G
The Journal of neuroscience : the official journal of the Society for Neuroscience37(8)2112-2124(2017 Feb)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

This study demonstrated that whole-exome sequencing show reveled TOR1A mutation with early-onset generalized dystonia.
Title: Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.

This study showed that the Phosphodiesterase-10A Inverse Changes in Striatopallidal and Striatoentopeduncular Pathways of a Transgenic Mouse Model of DYT1 Dystonia.
Title: Phosphodiesterase-10A Inverse Changes in Striatopallidal and Striatoentopeduncular Pathways of a Transgenic Mouse Model of

The significant association of rs1182 and rs1801968 TOR1A variants was found in the development of focal dystonia and writer's cramp respectively.
Title: The Role of TOR1A Polymorphisms in Dystonia: A Systematic Review and Meta-Analysis.

This study show both MDYT1 and without clinical symptoms showed an abnormally enhanced Abnormal blink reflex recovery curve compared with the healthy controls. Moreover, the lack of a statistical difference between manifesting and nonmanifesting carriers suggests that their brainstem circuits are equivalently affected by the DYT1. gene
Title: Abnormal blink reflex recovery cycle in manifesting and nonmanifesting carriers of the DYT1 gene mutation.

A comparison of these structures shows, in atomic detail, the subtle differences in TorsinADeltaE-LULL1 activator interactions that separate the healthy from the diseased state.
Title: Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia.

The following TOR1A gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the TOR1A cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1⁺/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

***CloneID	Accession No.	Definition	**Vector	*Turnaround time	Price (USD)
OHu28404	NM_000113.3 Latest version!	Homo sapiens torsin family 1 member A (TOR1A), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00
View Old Accession Versions >>
OHu28404	NM_000113.2	Homo sapiens torsin family 1 member A (TOR1A), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00
Hide Old Accession Versions >>

ORF Online Only Promotion

Next-day Shipping ORF Clones ( in default vector with tag)
1 Clone	30% OFF
2-4 Clone	40% OFF
5 or more Clone	50% OFF
All Other ORF Clones
30% OFF

*Business Day

** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.

Reference Sequences (Refseq)

TOR1A ( NM_000113.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_000104.1 Homo sapiens torsin family 1 member A (TOR1A), mRNA.

Price & Availability↑

CloneID	OHu28404
Clone ID Related Accession (Same CDS sequence)	NM_000113.3 , NM_000113.2
Accession Version	NM_000113.3 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 999bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-12-30
Organism	Homo sapiens(human)
Product	torsin-1A precursor
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AU098588.1, BC014484.1, BC000674.2, AK075343.1, AF007871.1, AK056062.1 and BU790507.1. This sequence is a reference standard in the RefSeqGene project. On Nov 23, 2018 this sequence version replaced NM_000113.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.312261.1, SRR1660807.193372.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000351698.5/ ENSP00000345719.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: full length.

ATGAAGCTGG GCCGGGCCGT GCTGGGCCTG CTGCTGCTGG CGCCGTCCGT GGTGCAGGCG 
GTGGAGCCCA TCAGCCTGGG ACTGGCCCTG GCCGGCGTCC TCACCGGCTA CATCTACCCG 
CGTCTCTACT GCCTCTTCGC CGAGTGCTGC GGGCAGAAGC GGAGCCTTAG CCGGGAGGCA 
CTGCAGAAGG ATCTGGACGA CAACCTCTTT GGACAGCATC TTGCAAAGAA AATCATCTTA 
AATGCCGTGT TTGGTTTCAT AAACAACCCA AAGCCCAAGA AACCTCTCAC GCTCTCCCTG 
CACGGGTGGA CAGGCACCGG CAAAAATTTC GTCAGCAAGA TCATCGCAGA GAATATTTAC 
GAGGGTGGTC TGAACAGTGA CTATGTCCAC CTGTTTGTGG CCACATTGCA CTTTCCACAT 
GCTTCAAACA TCACCTTGTA CAAGGATCAG TTACAGTTGT GGATTCGAGG CAACGTGAGT 
GCCTGTGCGA GGTCCATCTT CATATTTGAT GAAATGGATA AGATGCATGC AGGCCTCATA 
GATGCCATCA AGCCTTTCCT CGACTATTAT GACCTGGTGG ATGGGGTCTC CTACCAGAAA 
GCCATGTTCA TATTTCTCAG CAATGCTGGA GCAGAAAGGA TCACAGATGT GGCTTTGGAT 
TTCTGGAGGA GTGGAAAGCA GAGGGAAGAC ATCAAGCTCA AAGACATTGA ACACGCGTTG 
TCTGTGTCGG TTTTCAATAA CAAGAACAGT GGCTTCTGGC ACAGCAGCTT AATTGACCGG 
AACCTCATTG ATTATTTTGT TCCCTTCCTC CCCCTGGAAT ACAAACACCT AAAAATGTGT 
ATCCGAGTGG AAATGCAGTC CCGAGGCTAT GAAATTGATG AAGACATTGT AAGCAGAGTG 
GCTGAGGAGA TGACATTTTT CCCCAAAGAG GAGAGAGTTT TCTCAGATAA AGGCTGCAAA 
ACGGTGTTCA CCAAGTTAGA TTATTACTAC GATGATTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_000104.1
CDS	52..1050
Translation	MKLGRAVLGLLLLAPSVVQAVEPISLGLALAGVLTGYIYPRLYCLFAECCGQKRSLSREALQKDLDDNLFGQHLAKKIILNAVFGFINNPKPKKPLTLSLHGWTGTGKNFVSKIIAENIYEGGLNSDYVHLFVATLHFPHASNITLYKDQLQLWIRGNVSACARSIFIFDEMDKMHAGLIDAIKPFLDYYDLVDGVSYQKAMFIFLSNAGAERITDVALDFWRSGKQREDIKLKDIEHALSVSVFNNKNSGFWHSSLIDRNLIDYFVPFLPLEYKHLKMCIRVEMQSRGYEIDEDIVSRVAEEMTFFPKEERVFSDKGCKTVFTKLDYYYDD

Target ORF information:

RefSeq Version	NM_000113.3
Organism	Homo sapiens(human)
Definition	Homo sapiens torsin family 1 member A (TOR1A), mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_000113.3

ORF Insert Sequence:

ATGAAGCTGG GCCGGGCCGT GCTGGGCCTG CTGCTGCTGG CGCCGTCCGT GGTGCAGGCG 
GTGGAGCCCA TCAGCCTGGG ACTGGCCCTG GCCGGCGTCC TCACCGGCTA CATCTACCCG 
CGTCTCTACT GCCTCTTCGC CGAGTGCTGC GGGCAGAAGC GGAGCCTTAG CCGGGAGGCA 
CTGCAGAAGG ATCTGGACGA CAACCTCTTT GGACAGCATC TTGCAAAGAA AATCATCTTA 
AATGCCGTGT TTGGTTTCAT AAACAACCCA AAGCCCAAGA AACCTCTCAC GCTCTCCCTG 
CACGGGTGGA CAGGCACCGG CAAAAATTTC GTCAGCAAGA TCATCGCAGA GAATATTTAC 
GAGGGTGGTC TGAACAGTGA CTATGTCCAC CTGTTTGTGG CCACATTGCA CTTTCCACAT 
GCTTCAAACA TCACCTTGTA CAAGGATCAG TTACAGTTGT GGATTCGAGG CAACGTGAGT 
GCCTGTGCGA GGTCCATCTT CATATTTGAT GAAATGGATA AGATGCATGC AGGCCTCATA 
GATGCCATCA AGCCTTTCCT CGACTATTAT GACCTGGTGG ATGGGGTCTC CTACCAGAAA 
GCCATGTTCA TATTTCTCAG CAATGCTGGA GCAGAAAGGA TCACAGATGT GGCTTTGGAT 
TTCTGGAGGA GTGGAAAGCA GAGGGAAGAC ATCAAGCTCA AAGACATTGA ACACGCGTTG 
TCTGTGTCGG TTTTCAATAA CAAGAACAGT GGCTTCTGGC ACAGCAGCTT AATTGACCGG 
AACCTCATTG ATTATTTTGT TCCCTTCCTC CCCCTGGAAT ACAAACACCT AAAAATGTGT 
ATCCGAGTGG AAATGCAGTC CCGAGGCTAT GAAATTGATG AAGACATTGT AAGCAGAGTG 
GCTGAGGAGA TGACATTTTT CCCCAAAGAG GAGAGAGTTT TCTCAGATAA AGGCTGCAAA 
ACGGTGTTCA CCAAGTTAGA TTATTACTAC GATGATTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

TOR1A ( NM_000113.2 ) cDNA ORF clone, Homo sapiens(human) -> NP_000104.1 Homo sapiens torsin family 1 member A (TOR1A), mRNA.

Price & Availability↑

CloneID	OHu28404
Clone ID Related Accession (Same CDS sequence)	NM_000113.3 , NM_000113.2
Accession Version	NM_000113.2	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 999bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2017-11-11
Organism	Homo sapiens(human)
Product	torsin-1A precursor
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AU098588.1, BC014484.1, BC000674.2, AK075343.1, AF007871.1, AK056062.1 and BU790507.1. This sequence is a reference standard in the RefSeqGene project. On Dec 10, 2004 this sequence version replaced NM_000113.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.495769.1, SRR1660807.193372.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: full length.

ATGAAGCTGG GCCGGGCCGT GCTGGGCCTG CTGCTGCTGG CGCCGTCCGT GGTGCAGGCG 
GTGGAGCCCA TCAGCCTGGG ACTGGCCCTG GCCGGCGTCC TCACCGGCTA CATCTACCCG 
CGTCTCTACT GCCTCTTCGC CGAGTGCTGC GGGCAGAAGC GGAGCCTTAG CCGGGAGGCA 
CTGCAGAAGG ATCTGGACGA CAACCTCTTT GGACAGCATC TTGCAAAGAA AATCATCTTA 
AATGCCGTGT TTGGTTTCAT AAACAACCCA AAGCCCAAGA AACCTCTCAC GCTCTCCCTG 
CACGGGTGGA CAGGCACCGG CAAAAATTTC GTCAGCAAGA TCATCGCAGA GAATATTTAC 
GAGGGTGGTC TGAACAGTGA CTATGTCCAC CTGTTTGTGG CCACATTGCA CTTTCCACAT 
GCTTCAAACA TCACCTTGTA CAAGGATCAG TTACAGTTGT GGATTCGAGG CAACGTGAGT 
GCCTGTGCGA GGTCCATCTT CATATTTGAT GAAATGGATA AGATGCATGC AGGCCTCATA 
GATGCCATCA AGCCTTTCCT CGACTATTAT GACCTGGTGG ATGGGGTCTC CTACCAGAAA 
GCCATGTTCA TATTTCTCAG CAATGCTGGA GCAGAAAGGA TCACAGATGT GGCTTTGGAT 
TTCTGGAGGA GTGGAAAGCA GAGGGAAGAC ATCAAGCTCA AAGACATTGA ACACGCGTTG 
TCTGTGTCGG TTTTCAATAA CAAGAACAGT GGCTTCTGGC ACAGCAGCTT AATTGACCGG 
AACCTCATTG ATTATTTTGT TCCCTTCCTC CCCCTGGAAT ACAAACACCT AAAAATGTGT 
ATCCGAGTGG AAATGCAGTC CCGAGGCTAT GAAATTGATG AAGACATTGT AAGCAGAGTG 
GCTGAGGAGA TGACATTTTT CCCCAAAGAG GAGAGAGTTT TCTCAGATAA AGGCTGCAAA 
ACGGTGTTCA CCAAGTTAGA TTATTACTAC GATGATTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_000104.1
CDS	78..1076
Translation	MKLGRAVLGLLLLAPSVVQAVEPISLGLALAGVLTGYIYPRLYCLFAECCGQKRSLSREALQKDLDDNLFGQHLAKKIILNAVFGFINNPKPKKPLTLSLHGWTGTGKNFVSKIIAENIYEGGLNSDYVHLFVATLHFPHASNITLYKDQLQLWIRGNVSACARSIFIFDEMDKMHAGLIDAIKPFLDYYDLVDGVSYQKAMFIFLSNAGAERITDVALDFWRSGKQREDIKLKDIEHALSVSVFNNKNSGFWHSSLIDRNLIDYFVPFLPLEYKHLKMCIRVEMQSRGYEIDEDIVSRVAEEMTFFPKEERVFSDKGCKTVFTKLDYYYDD

Target ORF information:

RefSeq Version	NM_000113.2
Organism	Homo sapiens(human)
Definition	Homo sapiens torsin family 1 member A (TOR1A), mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_000113.2

ORF Insert Sequence:

ATGAAGCTGG GCCGGGCCGT GCTGGGCCTG CTGCTGCTGG CGCCGTCCGT GGTGCAGGCG 
GTGGAGCCCA TCAGCCTGGG ACTGGCCCTG GCCGGCGTCC TCACCGGCTA CATCTACCCG 
CGTCTCTACT GCCTCTTCGC CGAGTGCTGC GGGCAGAAGC GGAGCCTTAG CCGGGAGGCA 
CTGCAGAAGG ATCTGGACGA CAACCTCTTT GGACAGCATC TTGCAAAGAA AATCATCTTA 
AATGCCGTGT TTGGTTTCAT AAACAACCCA AAGCCCAAGA AACCTCTCAC GCTCTCCCTG 
CACGGGTGGA CAGGCACCGG CAAAAATTTC GTCAGCAAGA TCATCGCAGA GAATATTTAC 
GAGGGTGGTC TGAACAGTGA CTATGTCCAC CTGTTTGTGG CCACATTGCA CTTTCCACAT 
GCTTCAAACA TCACCTTGTA CAAGGATCAG TTACAGTTGT GGATTCGAGG CAACGTGAGT 
GCCTGTGCGA GGTCCATCTT CATATTTGAT GAAATGGATA AGATGCATGC AGGCCTCATA 
GATGCCATCA AGCCTTTCCT CGACTATTAT GACCTGGTGG ATGGGGTCTC CTACCAGAAA 
GCCATGTTCA TATTTCTCAG CAATGCTGGA GCAGAAAGGA TCACAGATGT GGCTTTGGAT 
TTCTGGAGGA GTGGAAAGCA GAGGGAAGAC ATCAAGCTCA AAGACATTGA ACACGCGTTG 
TCTGTGTCGG TTTTCAATAA CAAGAACAGT GGCTTCTGGC ACAGCAGCTT AATTGACCGG 
AACCTCATTG ATTATTTTGT TCCCTTCCTC CCCCTGGAAT ACAAACACCT AAAAATGTGT 
ATCCGAGTGG AAATGCAGTC CCGAGGCTAT GAAATTGATG AAGACATTGT AAGCAGAGTG 
GCTGAGGAGA TGACATTTTT CCCCAAAGAG GAGAGAGTTT TCTCAGATAA AGGCTGCAAA 
ACGGTGTTCA CCAAGTTAGA TTATTACTAC GATGATTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

PubMed

Exploring the Interaction Between eIF2? Dysregulation, Acute Endoplasmic Reticulum Stress and DYT1 Dystonia in the Mammalian Brain.
Neuroscience371455-468(2017 Dec)
Beauvais G,Rodriguez-Losada N,Ying L,Zakirova Z,Watson JL,Readhead B,Gadue P,French DL,Ehrlich ME,Gonzalez-Alegre P

Phosphodiesterase-10A Inverse Changes in Striatopallidal and Striatoentopeduncular Pathways of a Transgenic Mouse Model of
The Journal of neuroscience : the official journal of the Society for Neuroscience37(8)2112-2124(2017 Feb)
D'Angelo V,Castelli V,Giorgi M,Cardarelli S,Saverioni I,Palumbo F,Bonsi P,Pisani A,Giamp? C,Sorge R,Biagioni S,Fusco FR,Sancesario G

見積依頼

Eメール

japanmarket@genscript.com

電話

03-6811-6572

FAX

03-6811-6573
050-3174-7589(受注専用)

オンラインフォーム

オンライン注文

TOR1A cDNA ORF clone, Homo sapiens(human)

Gene

Clones

gRNAs

Related articles in PubMed

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

見積依頼

Eメール

電話

FAX

オンラインフォーム

サポート

会社情報

サポート

会社情報