THAP1 cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	THAP1
Entrez Gene ID	55145
Full Name	THAP domain containing 1
Synonyms	DYT6
General protein information	Preferred Names THAP domain containing 1 Names THAP domain-containing protein 1 4833431A01Rik THAP domain containing, apoptosis associated protein 1 THAP domain protein 1 nuclear proapoptotic factor
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 8 Map Location: 8p11.21
Summary	The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008].
Disorder MIM:	609520
Disorder Html:	Dystonia 6, torsion, 602629 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_018105.3	NP_060575.1	THAP domain-containing protein 1 isoform 1
NM_018105.2	NP_060575.1	THAP domain-containing protein 1 isoform 1
NM_199003.1	NP_945354.1	THAP domain-containing protein 1 isoform 2

Pathways from BioSystems

Homologies

Homo sapiens (human)	THAP1	NP_060575.1
Gallus gallus (chicken)	THAP1	XP_004949398.1
Canis lupus familiaris (dog)	THAP1	XP_848435.1
Rattus norvegicus (Norway rat)	Thap1	NP_001008341.1
Xenopus tropicalis (tropical clawed frog)	thap1	NP_001006738.1
Mus musculus (house mouse)	Thap1	NP_950243.1
Pan troglodytes (chimpanzee)	THAP1	XP_528123.1
	THAP1	XP_001099355.1
Bos taurus (cattle)	THAP1	NP_001029820.1

Gene Ontology
Bibliography

Related articles in PubMed

Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression.
Hollstein R, Reiz B, K?tter L, Richter A, Schaake S, Lohmann K, Kaiser FJ
Human molecular genetics26(15)2975-2983(2017 Aug)

In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.
Richter A, Hollstein R, Hebert E, Vulinovic F, Eckhold J, Osmanovic A, Depping R, Kaiser FJ, Lohmann K
Journal of molecular neuroscience : MN62(1)11-16(2017 May)

Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.
Zech M, Boesch S, Jochim A, Weber S, Meindl T, Schormair B, Wieland T, Lunetta C, Sansone V, Messner M, Mueller J, Ceballos-Baumann A, Strom TM, Colombo R, Poewe W, Haslinger B, Winkelmann J
Movement disorders : official journal of the Movement Disorder Society32(4)549-559(2017 04)

Genetic screening of THAP1 in primary dystonia patients of India.
Giri S, Naiya T, Equbal Z, Sankhla CS, Das SK, Ray K, Ray J
Neuroscience letters63731-37(2017 01)

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

We functionally characterized for the first time three dystonia-causing missense variants (p.N136K, p.N136S and p.Y137C) within the HBM in the C-terminal region of THAP1. Dystonia-causing mutations affecting the residues N136 and Y137 in THAP1 significantly reduced HCFC1 recruitment to all four tested promoter regions.
Title: Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression.

This study demonstrated that whole-exome sequencing show reveled THAP1 mutation with early-onset generalized dystonia.
Title: Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.

A deleterious THAP1 mutation was identified in patients with idiopathic isolated dystonia.
Title: New THAP1 mutation and role of putative modifier in TOR1A.

that the THAP1 is likely to have a causative role in the pathogenesis of Indian primary pure dystonia patients
Title: Genetic screening of THAP1 in primary dystonia patients of India.

Genetic screening targeted at currently known disease-causing mutations in TOR1A, THAP1, and TUBB4 appears to have low diagnostic yield in sporadic spasmodic dysphonia. In our cohort, only 2 patients tested positive for novel/rare variants in THAP1.
Title: Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia.

The following THAP1 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the THAP1 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)
OHu25875	NM_018105.3 Latest version!	Homo sapiens THAP domain containing 1 (THAP1), transcript variant 1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00
OHu25749	NM_199003.1 Latest version!	Homo sapiens THAP domain containing 1 (THAP1), transcript variant 2, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	7-9	$69.30 $99.00
View Old Accession Versions >>
OHu25875	NM_018105.2	Homo sapiens THAP domain containing 1 (THAP1), transcript variant 1, 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 >>

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** 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)

THAP1 ( NM_018105.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_060575.1 Homo sapiens THAP domain containing 1 (THAP1), transcript variant 1, mRNA.

Price & Availability↑

CloneID	OHu25875
Clone ID Related Accession (Same CDS sequence)	NM_018105.3 , NM_018105.2
Accession Version	NM_018105.3 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 642bp) 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	2019-08-21
Organism	Homo sapiens(human)
Product	THAP domain-containing protein 1 isoform 1
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC087533.7. This sequence is a reference standard in the RefSeqGene project. On Nov 23, 2018 this sequence version replaced NM_018105.2. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (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 :: AK001339.1, SRR1803612.181542.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01820691, SAMN03267764 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000254250.7/ ENSP00000254250.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## COMPLETENESS: full length.

ATGGTGCAGT CCTGCTCCGC CTACGGCTGC AAGAACCGCT ACGACAAGGA CAAGCCCGTT 
TCTTTCCACA AGTTTCCTCT TACTCGACCC AGTCTTTGTA AAGAATGGGA GGCAGCTGTC 
AGAAGAAAAA ACTTTAAACC CACCAAGTAT AGCAGTATTT GTTCAGAGCA CTTTACTCCA 
GACTGCTTTA AGAGAGAGTG CAACAACAAG TTACTGAAAG AGAATGCTGT GCCCACAATA 
TTTCTTTGTA CTGAGCCACA TGACAAGAAA GAAGATCTTC TGGAGCCACA GGAACAGCTT 
CCCCCACCTC CTTTACCGCC TCCTGTTTCC CAGGTTGATG CTGCTATTGG ATTACTAATG 
CCGCCTCTTC AGACCCCTGT TAATCTCTCA GTTTTCTGTG ACCACAACTA TACTGTGGAG 
GATACAATGC ACCAGCGGAA AAGGATTCAT CAGCTAGAAC AGCAAGTTGA AAAACTCAGA 
AAGAAGCTCA AGACCGCACA GCAGCGATGC AGAAGGCAAG AACGGCAGCT TGAAAAATTA 
AAGGAGGTTG TTCACTTCCA GAAAGAGAAA GACGACGTAT CAGAAAGAGG TTATGTGATT 
CTACCAAATG ACTACTTTGA AATAGTTGAA GTACCAGCAT AA

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

RefSeq	NP_060575.1
CDS	232..873
Translation	MVQSCSAYGCKNRYDKDKPVSFHKFPLTRPSLCKEWEAAVRRKNFKPTKYSSICSEHFTPDCFKRECNNKLLKENAVPTIFLCTEPHDKKEDLLEPQEQLPPPPLPPPVSQVDAAIGLLMPPLQTPVNLSVFCDHNYTVEDTMHQRKRIHQLEQQVEKLRKKLKTAQQRCRRQERQLEKLKEVVHFQKEKDDVSERGYVILPNDYFEIVEVPA

Target ORF information:

RefSeq Version	NM_018105.3
Organism	Homo sapiens(human)
Definition	Homo sapiens THAP domain containing 1 (THAP1), transcript variant 1, mRNA.

Target ORF information:

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

NM_018105.3

ORF Insert Sequence:

ATGGTGCAGT CCTGCTCCGC CTACGGCTGC AAGAACCGCT ACGACAAGGA CAAGCCCGTT 
TCTTTCCACA AGTTTCCTCT TACTCGACCC AGTCTTTGTA AAGAATGGGA GGCAGCTGTC 
AGAAGAAAAA ACTTTAAACC CACCAAGTAT AGCAGTATTT GTTCAGAGCA CTTTACTCCA 
GACTGCTTTA AGAGAGAGTG CAACAACAAG TTACTGAAAG AGAATGCTGT GCCCACAATA 
TTTCTTTGTA CTGAGCCACA TGACAAGAAA GAAGATCTTC TGGAGCCACA GGAACAGCTT 
CCCCCACCTC CTTTACCGCC TCCTGTTTCC CAGGTTGATG CTGCTATTGG ATTACTAATG 
CCGCCTCTTC AGACCCCTGT TAATCTCTCA GTTTTCTGTG ACCACAACTA TACTGTGGAG 
GATACAATGC ACCAGCGGAA AAGGATTCAT CAGCTAGAAC AGCAAGTTGA AAAACTCAGA 
AAGAAGCTCA AGACCGCACA GCAGCGATGC AGAAGGCAAG AACGGCAGCT TGAAAAATTA 
AAGGAGGTTG TTCACTTCCA GAAAGAGAAA GACGACGTAT CAGAAAGAGG TTATGTGATT 
CTACCAAATG ACTACTTTGA AATAGTTGAA GTACCAGCAT AA

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

THAP1 ( NM_018105.2 ) cDNA ORF clone, Homo sapiens(human) -> NP_060575.1 Homo sapiens THAP domain containing 1 (THAP1), transcript variant 1, mRNA.

Price & Availability↑

CloneID	OHu25875
Clone ID Related Accession (Same CDS sequence)	NM_018105.3 , NM_018105.2
Accession Version	NM_018105.2	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 642bp) 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	2017-12-26
Organism	Homo sapiens(human)
Product	THAP domain-containing protein 1 isoform 1
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from CD709111.1, AK001339.1, AL832077.1 and AI475984.1. This sequence is a reference standard in the RefSeqGene project. On Dec 18, 2003 this sequence version replaced NM_018105.1. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (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 :: SRR1163655.14469.1, AK001339.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01820691, SAMN03267764 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

ATGGTGCAGT CCTGCTCCGC CTACGGCTGC AAGAACCGCT ACGACAAGGA CAAGCCCGTT 
TCTTTCCACA AGTTTCCTCT TACTCGACCC AGTCTTTGTA AAGAATGGGA GGCAGCTGTC 
AGAAGAAAAA ACTTTAAACC CACCAAGTAT AGCAGTATTT GTTCAGAGCA CTTTACTCCA 
GACTGCTTTA AGAGAGAGTG CAACAACAAG TTACTGAAAG AGAATGCTGT GCCCACAATA 
TTTCTTTGTA CTGAGCCACA TGACAAGAAA GAAGATCTTC TGGAGCCACA GGAACAGCTT 
CCCCCACCTC CTTTACCGCC TCCTGTTTCC CAGGTTGATG CTGCTATTGG ATTACTAATG 
CCGCCTCTTC AGACCCCTGT TAATCTCTCA GTTTTCTGTG ACCACAACTA TACTGTGGAG 
GATACAATGC ACCAGCGGAA AAGGATTCAT CAGCTAGAAC AGCAAGTTGA AAAACTCAGA 
AAGAAGCTCA AGACCGCACA GCAGCGATGC AGAAGGCAAG AACGGCAGCT TGAAAAATTA 
AAGGAGGTTG TTCACTTCCA GAAAGAGAAA GACGACGTAT CAGAAAGAGG TTATGTGATT 
CTACCAAATG ACTACTTTGA AATAGTTGAA GTACCAGCAT AA

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

RefSeq	NP_060575.1
CDS	238..879
Translation	MVQSCSAYGCKNRYDKDKPVSFHKFPLTRPSLCKEWEAAVRRKNFKPTKYSSICSEHFTPDCFKRECNNKLLKENAVPTIFLCTEPHDKKEDLLEPQEQLPPPPLPPPVSQVDAAIGLLMPPLQTPVNLSVFCDHNYTVEDTMHQRKRIHQLEQQVEKLRKKLKTAQQRCRRQERQLEKLKEVVHFQKEKDDVSERGYVILPNDYFEIVEVPA

Target ORF information:

RefSeq Version	NM_018105.2
Organism	Homo sapiens(human)
Definition	Homo sapiens THAP domain containing 1 (THAP1), transcript variant 1, mRNA.

Target ORF information:

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

NM_018105.2

ORF Insert Sequence:

ATGGTGCAGT CCTGCTCCGC CTACGGCTGC AAGAACCGCT ACGACAAGGA CAAGCCCGTT 
TCTTTCCACA AGTTTCCTCT TACTCGACCC AGTCTTTGTA AAGAATGGGA GGCAGCTGTC 
AGAAGAAAAA ACTTTAAACC CACCAAGTAT AGCAGTATTT GTTCAGAGCA CTTTACTCCA 
GACTGCTTTA AGAGAGAGTG CAACAACAAG TTACTGAAAG AGAATGCTGT GCCCACAATA 
TTTCTTTGTA CTGAGCCACA TGACAAGAAA GAAGATCTTC TGGAGCCACA GGAACAGCTT 
CCCCCACCTC CTTTACCGCC TCCTGTTTCC CAGGTTGATG CTGCTATTGG ATTACTAATG 
CCGCCTCTTC AGACCCCTGT TAATCTCTCA GTTTTCTGTG ACCACAACTA TACTGTGGAG 
GATACAATGC ACCAGCGGAA AAGGATTCAT CAGCTAGAAC AGCAAGTTGA AAAACTCAGA 
AAGAAGCTCA AGACCGCACA GCAGCGATGC AGAAGGCAAG AACGGCAGCT TGAAAAATTA 
AAGGAGGTTG TTCACTTCCA GAAAGAGAAA GACGACGTAT CAGAAAGAGG TTATGTGATT 
CTACCAAATG ACTACTTTGA AATAGTTGAA GTACCAGCAT AA

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

THAP1 ( NM_199003.1 ) cDNA ORF clone, Homo sapiens(human) -> NP_945354.1 Homo sapiens THAP domain containing 1 (THAP1), transcript variant 2, mRNA.

Price & Availability↑

CloneID	OHu25749
Clone ID Related Accession (Same CDS sequence)	NM_199003.1
Accession Version	NM_199003.1 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 162bp) 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	2019-08-03
Organism	Homo sapiens(human)
Product	THAP domain-containing protein 1 isoform 2
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BG497522.1, CD639319.1, AL832077.1 and AI475984.1. Transcript Variant: This variant (2) lacks a coding exon compared to variant 1, which causes a frameshift. The resulting isoform (2) has a distinct and shorter C-terminus, as compared to isoform 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 :: ERR279826.2704.1, AL832077.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121

ATGGTGCAGT CCTGCTCCGC CTACGGCTGC AAGAACCGCT ACGACAAGGA CAAGCCCGTT 
TCTTTCCACA AAAAGAAGAT CTTCTGGAGC CACAGGAACA GCTTCCCCCA CCTCCTTTAC 
CGCCTCCTGT TTCCCAGGTT GATGCTGCTA TTGGATTACT AA

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

RefSeq	NP_945354.1
CDS	238..399
Translation	MVQSCSAYGCKNRYDKDKPVSFHKKKIFWSHRNSFPHLLYRLLFPRLMLLLDY

Target ORF information:

RefSeq Version	NM_199003.1
Organism	Homo sapiens(human)
Definition	Homo sapiens THAP domain containing 1 (THAP1), transcript variant 2, mRNA.

Target ORF information:

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

NM_199003.1

ORF Insert Sequence:

1
61
121

ATGGTGCAGT CCTGCTCCGC CTACGGCTGC AAGAACCGCT ACGACAAGGA CAAGCCCGTT 
TCTTTCCACA AAAAGAAGAT CTTCTGGAGC CACAGGAACA GCTTCCCCCA CCTCCTTTAC 
CGCCTCCTGT TTCCCAGGTT GATGCTGCTA TTGGATTACT AA

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

PubMed

Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression.
Human molecular genetics26(15)2975-2983(2017 Aug)
Hollstein R,Reiz B,K?tter L,Richter A,Schaake S,Lohmann K,Kaiser FJ

In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.
Journal of molecular neuroscience : MN62(1)11-16(2017 May)
Richter A,Hollstein R,Hebert E,Vulinovic F,Eckhold J,Osmanovic A,Depping R,Kaiser FJ,Lohmann K

Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.
Movement disorders : official journal of the Movement Disorder Society32(4)549-559(2017 04)
Zech M,Boesch S,Jochim A,Weber S,Meindl T,Schormair B,Wieland T,Lunetta C,Sansone V,Messner M,Mueller J,Ceballos-Baumann A,Strom TM,Colombo R,Poewe W,Haslinger B,Winkelmann J

Genetic screening of THAP1 in primary dystonia patients of India.
Neuroscience letters63731-37(2017 01)
Giri S,Naiya T,Equbal Z,Sankhla CS,Das SK,Ray K,Ray J

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THAP1 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:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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