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PITX3 cDNA ORF clone, Homo sapiens(Human)

Gene Symbol PITX3
Entrez Gene ID 5309
Full Name paired like homeodomain 3
Synonyms ASGD1,ASMD,ASOD,CTPP4,CTRCT11,PTX3
General protein information
Preferred Names

paired like homeodomain 3

Names

pituitary homeobox 3
homeobox protein PITX3

Gene Type protein-coding
Organism Homo sapiens(Human)
Genome

10

10q24.32

Summary This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008].
Disorder MIM:

602669

Disorder Html: Anterior segment mesenchymal dysgenesis, 107250 (3); Cataract,

mRNA and Protein(s)

mRNA Protein Name
NM_005029.3 NP_005020.1 pituitary homeobox 3



Bos taurus (cattle) PITX3 NP_001179234.1
Homo sapiens (human) PITX3 NP_005020.1
Mus musculus (house mouse) Pitx3 NP_032878.1
Danio rerio (zebrafish) pitx3 NP_991238.1
Xenopus tropicalis (tropical clawed frog) pitx3 XP_002935807.2
Pan troglodytes (chimpanzee) PITX3 XP_521591.2
Gallus gallus (chicken) PITX3 XP_421631.2
Canis lupus familiaris (dog) PITX3 XP_005637719.1
Rattus norvegicus (Norway rat) Pitx3 NP_062120.1


Related articles in PubMed

Genetic analysis of PITX3 variants in patients with essential tremor.
Chen H, Song Z, Yuan L, Xiong W, Yang Z, Gong L, Deng H
Acta neurologica Scandinavica135(3)373-376(2017 Mar)

Whole Exome Sequencing Identifies a Novel Mutation in the
Liu H, Liu H, Tang J, Lin Q, Sun Y, Wang C, Yang H, Khan MR, Peerbux MW, Ahmad S, Bukhari I, Zhu J
Annals of clinical and laboratory science47(1)92-95(2017 Jan)


Holmes EE, Goltz D, Sailer V, Jung M, Meller S, Uhl B, Dietrich J, Röhler M, Ellinger J, Kristiansen G, Dietrich D
Clinical epigenetics8104(2016)

Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.
Verdin H, Sorokina EA, Meire F, Casteels I, de Ravel T, Semina EV, De Baere E
Orphanet journal of rare diseases926(2014 Feb)

PITX3 and risk for Parkinson's disease: a systematic review and meta-analysis.
Jiménez-Jiménez FJ, García-Martín E, Alonso-Navarro H, Agúndez JA
European neurology71(1-2)49-56(2014)

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

PITX3 variants rs3758549 and rs4919621 are not associated with ET in Chinese Han population.
Title: Genetic analysis of PITX3 variants in patients with essential tremor.

These findings suggest that p.A203fs in PITX3 is the cause of cataracts in the recruited family.
Title: Whole Exome Sequencing Identifies a Novel Mutation in the

Study showed that PITX3 and PITX2 were hypermethylated in prostate carcinomas (PCa) and significantly associated with established clinicopathologic parameters characteristic of PCa.

novel PITX3 mutation c.573del, p.(Ser192Alafs*117), was identified in heterozygous state in a Belgo-Romanian family with a similar phenotype
Title: Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.

Meta-analysis suggests that rs3758549, rs2281983, and rs4919621 single nucleotide polymorphisms are not major determinants of the risk for Parkinson's disease
Title: PITX3 and risk for Parkinson's disease: a systematic review and meta-analysis.

The following PITX3 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the PITX3 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.

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***CloneID RefSeq Accession Definition **Vector *Turnaround time Price (USD) Select
OHu18059 NM_005029.3
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Homo sapiens paired like homeodomain 3 (PITX3), mRNA. pcDNA3.1+/C-(K)DYK or customized vector TBD $216.30
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** 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.


CloneID OHu18059
Clone ID Related Accession (Same CDS sequence) NM_005029.3
Accession Version NM_005029.3 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 909bp)
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 2017-05-06
Organism Homo sapiens(Human)
Product pituitary homeobox 3
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC011642.2. This sequence is a reference standard in the RefSeqGene project. On Oct 22, 2002 this sequence version replaced NM_005029.2. 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 :: BC011642.2, BF308662.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA2148874, SAMEA2151119 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
ATGGAGTTCG GCCTGCTCAG CGAGGCAGAG GCCCGGAGCC CTGCCCTGTC GCTGTCAGAC 
GCTGGCACTC CGCACCCCCA GCTCCCAGAG CACGGCTGCA AGGGCCAGGA GCACAGCGAC
TCAGAAAAGG CCTCGGCTTC GCTGCCCGGC GGCTCCCCAG AGGACGGTTC GCTGAAAAAG
AAGCAGCGGC GGCAGCGCAC GCACTTCACC AGCCAGCAGC TACAGGAGCT AGAGGCGACC
TTCCAGAGGA ACCGCTACCC CGACATGAGC ACGCGCGAGG AGATCGCCGT GTGGACCAAC
CTCACCGAGG CCCGCGTGCG GGTGTGGTTC AAGAACCGGC GCGCCAAATG GCGGAAGCGC
GAGCGCAGCC AGCAGGCCGA GCTATGCAAA GGCAGCTTCG CGGCGCCGCT CGGGGGGCTG
GTGCCGCCCT ACGAGGAGGT GTACCCCGGC TACTCGTACG GCAACTGGCC GCCCAAGGCT
CTTGCCCCGC CGCTCGCCGC CAAGACCTTT CCATTCGCCT TCAACTCGGT CAACGTGGGG
CCTCTGGCTT CGCAGCCCGT CTTCTCGCCA CCCAGCTCCA TCGCCGCCTC CATGGTGCCC
TCCGCCGCGG CTGCCCCGGG CACCGTGCCA GGGCCTGGGG CCCTGCAGGG CCTGGGCGGG
GGCCCCCCCG GGCTGGCTCC GGCCGCCGTG TCCTCCGGGG CCGTGTCCTG CCCTTATGCC
TCGGCCGCCG CCGCCGCCGC GGCTGCCGCC TCTTCCCCCT ACGTCTATCG GGACCCGTGT
AACTCGAGCC TGGCCAGCCT GCGGCTCAAA GCCAAACAGC ACGCCTCCTT CAGCTACCCC
GCTGTGCACG GGCCGCCCCC GGCAGCCAAC CTTAGTCCGT GCCAGTACGC CGTGGAAAGG
CCCGTATGA

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

RefSeq NP_005020.1
CDS155..1063
Misc Feature(1)89..91
Misc Feature(2)308..310
Misc Feature(3)323..325
Misc Feature(4)order(341..355,359..361,410..412,428..430,467..469,473..478,485..490,494..502,506..511)
Misc Feature(5)order(347..349,356..358,476..478,485..490,497..499)
Misc Feature(6)350..508
Misc Feature(7)926..979
Misc Feature(8)938..979
Misc Feature(9)956..970
Exon (1)1..142
Exon (2)143..272
Exon (3)273..475
Exon (4)476..1388
Translation

Target ORF information:

RefSeq Version NM_005029.3
Organism Homo sapiens(Human)
Definition Homo sapiens paired like homeodomain 3 (PITX3), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_005029.3

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
ATGGAGTTCG GCCTGCTCAG CGAGGCAGAG GCCCGGAGCC CTGCCCTGTC GCTGTCAGAC 
GCTGGCACTC CGCACCCCCA GCTCCCAGAG CACGGCTGCA AGGGCCAGGA GCACAGCGAC
TCAGAAAAGG CCTCGGCTTC GCTGCCCGGC GGCTCCCCAG AGGACGGTTC GCTGAAAAAG
AAGCAGCGGC GGCAGCGCAC GCACTTCACC AGCCAGCAGC TACAGGAGCT AGAGGCGACC
TTCCAGAGGA ACCGCTACCC CGACATGAGC ACGCGCGAGG AGATCGCCGT GTGGACCAAC
CTCACCGAGG CCCGCGTGCG GGTGTGGTTC AAGAACCGGC GCGCCAAATG GCGGAAGCGC
GAGCGCAGCC AGCAGGCCGA GCTATGCAAA GGCAGCTTCG CGGCGCCGCT CGGGGGGCTG
GTGCCGCCCT ACGAGGAGGT GTACCCCGGC TACTCGTACG GCAACTGGCC GCCCAAGGCT
CTTGCCCCGC CGCTCGCCGC CAAGACCTTT CCATTCGCCT TCAACTCGGT CAACGTGGGG
CCTCTGGCTT CGCAGCCCGT CTTCTCGCCA CCCAGCTCCA TCGCCGCCTC CATGGTGCCC
TCCGCCGCGG CTGCCCCGGG CACCGTGCCA GGGCCTGGGG CCCTGCAGGG CCTGGGCGGG
GGCCCCCCCG GGCTGGCTCC GGCCGCCGTG TCCTCCGGGG CCGTGTCCTG CCCTTATGCC
TCGGCCGCCG CCGCCGCCGC GGCTGCCGCC TCTTCCCCCT ACGTCTATCG GGACCCGTGT
AACTCGAGCC TGGCCAGCCT GCGGCTCAAA GCCAAACAGC ACGCCTCCTT CAGCTACCCC
GCTGTGCACG GGCCGCCCCC GGCAGCCAAC CTTAGTCCGT GCCAGTACGC CGTGGAAAGG
CCCGTATGA

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

book

Genetic analysis of PITX3 variants in patients with essential tremor.
Acta neurologica Scandinavica135(3)373-376(2017 Mar)
Chen H,Song Z,Yuan L,Xiong W,Yang Z,Gong L,Deng H


book

Whole Exome Sequencing Identifies a Novel Mutation in the
Annals of clinical and laboratory science47(1)92-95(2017 Jan)
Liu H,Liu H,Tang J,Lin Q,Sun Y,Wang C,Yang H,Khan MR,Peerbux MW,Ahmad S,Bukhari I,Zhu J


book


Clinical epigenetics8104(2016)
Holmes EE,Goltz D,Sailer V,Jung M,Meller S,Uhl B,Dietrich J,Röhler M,Ellinger J,Kristiansen G,Dietrich D


book

Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.
Orphanet journal of rare diseases926(2014 Feb)
Verdin H,Sorokina EA,Meire F,Casteels I,de Ravel T,Semina EV,De Baere E


book

PITX3 and risk for Parkinson's disease: a systematic review and meta-analysis.
European neurology71(1-2)49-56(2014)
Jiménez-Jiménez FJ,García-Martín E,Alonso-Navarro H,Agúndez JA


 
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