OriGene - DKC1 (NM_001142463) Human ORF cDNA Clone

Western Blot Validated

The same insert cloned in Lenti and other vectors is also available.

Cat. No.	Description	Vector	Price	Availability
RC226852L1	Lenti ORF clone of Human dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 2 , Myc-DDK-tagged	pLenti-C-Myc-DDK pLenti-C-mGFP pCMV6-AC-GFP	$990	2 Weeks
TR30022	Lenti-vpak packaging kit - packaging plasmids and transfection reagent (10 rxns)		$360	In Stock

TrueORF Data for RC226852

Vector:	pCMV6-Entry Change vector?	Tag: C-terminal Myc-DDK	Western validation with an anti-DDK antibody * L: Control HEK293 lysate R: Over-expression lysate
Sequence Data:	ORF Nucleotide Sequence CHROMATOGRAMS Protein Sequence	ORF Size: 1530 bp Predicted Protein MW: 56.9 kDa
Restriction Sites:	SgfI-MluI Cloning Scheme for this gene Plasmid Map
OTI Annotation:	This clone was engineered to express the complete ORF with an expression tag.
OTI Disclaimer:	The molecular sequence of this clone aligns with the gene accession number as a point of reference only. However, individual transcript sequences of the same gene can differ through naturally occurring variations (e.g. polymorphisms), each with its own valid existence. This clone is substantially in agreement with the reference, but a complete review of all prevailing variants is recommended prior to use. More info
Product Components:	The ORF clone is ion-exchange column purified, transfection-ready dried plasmid DNA, and shipped with 2 vector sequencing primers.
Protein Families:	Druggable Genome
Protein Pathways:

* The lysates used for this WB picture contain the overexpressed empty vector or the Myc-DDK tagged ORF clone.

Reference Data

RefSeq: NM_001142463.1, NP_001135935	RefSeq Size:	RefSeq ORF: 1530
Synonyms : CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
LocusID: 1736	Cytogenetic: Xq28
Summary: This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the NOLA1, 2 and 3 proteins. The protein encoded by this gene and the three NOLA proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The protein encoded by this gene is related to the Saccharomyces cerevisiae Cbf5p and Drosophila melanogaster Nop60B proteins. The gene lies in a tail-to-tail orientation with the palmitoylated erythrocyte membrane protein gene and is transcribed in a telomere to centromere direction. Both nucleotide substitutions and single trinucleotide repeat polymorphisms have been found in this gene. Mutations in this gene cause X-linked dyskeratosis congenita, a disease resulting in reticulate skin pigmentation, mucosal leukoplakia, nail dystrophy, and progressive bone marrow failure in most cases. Mutations in this gene also cause Hoyeraal-Hreidarsson syndrome, which is a more severe form of dyskeratosis congenita. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013].

ORF Clones Citations:

Intracellular Trafficking of the KV1.3 Potassium Channel Is Regulated by the Prodomain of a Matrix Metalloprotease, Hai M. Nguyen, Charles A. Galea, Galina Schmunk, Brian J. Smith, Robert A. Edwards, Raymond S. Norton, and K. George Chandy, J. Biol. Chem., Mar 2013; 288: 6451 - 6464. [KV1.3]

Renal Hypodysplasia Associates with a Wnt4 Variant that Causes Aberrant Canonical Wnt Signaling, Asaf Vivante, Michal Mark-Danieli, Miriam Davidovits, Orit Harari-Steinberg, Dorit Omer, Yehudit Gnatek, Roxana Cleper, Daniel Landau, Yael Kovalski, Irit Weissman, Israel Eisenstein, Michalle Soudack, Haike Reznik Wolf, Naomi Issler, Danny Lotan, Yair Anikster, and Benjamin Dekel, J. Am. Soc. Nephrol., Mar 2013; 24: 550 - 558. [WNT4]

Smad4-Irf6 genetic interaction and TGFß-mediated IRF6 signaling cascade are crucial for palatal fusion in mice, Jun-ichi Iwata, Akiko Suzuki, Richard C. Pelikan, Thach-Vu Ho, Pedro A. Sanchez-Lara, Mark Urata, Michael J. Dixon, and Yang Chai, Development, Mar 2013; 140: 1220 - 1230. [p21]

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy, Nikhita Ajit Bolar, Arnaud Vincent Vanlander, Claudia Wilbrecht, Nathalie Van der Aa, Joél Smet, Boel De Paepe, Geert Vandeweyer, Frank Kooy, François Eyskens, Elien De Latter, Gwenda Delanghe, Paul Govaert, Jules Gerard Leroy, Bart Loeys, Roland Lill, Lut Van Laer, and Rudy Van Coster, Hum. Mol. Genet., Mar 2013; 10.1093/hmg/ddt107. [IBA57]

Mutations in Critical Domains Confer the Human mTOR Gene Strong Tumorigenicity, Avaniyapuram Kannan Murugan, Ali Alzahrani, and Mingzhao Xing, J. Biol. Chem., Mar 2013; 288: 6511 - 6521. [mTOR]

Specificity Profiling of Dual Specificity Phosphatase Vaccinia VH1-related (VHR) Reveals Two Distinct Substrate Binding Modes, Rinrada Luechapanichkul, Xianwen Chen, Hashem A. Taha, Shubham Vyas, Xiaoyan Guan, Michael A. Freitas, Christopher M. Hadad, and Dehua Pei, J. Biol. Chem., Mar 2013; 288: 6498 - 6510. [ROBO1]

Dissecting the Role of COPI Complexes in Influenza Virus Infection, Eileen Sun, Jiang He, and Xiaowei Zhuang, J. Virol., Mar 2013; 87: 2673 - 2685. [COPE]

ATF4 Protects Against Neuronal Death in Cellular Parkinson's Disease Models by Maintaining Levels of Parkin, Xiaotian Sun, Jin Liu, John F. Crary, Cristina Malagelada, David Sulzer, Lloyd A. Greene, and Oren A. Levy, J. Neurosci., Feb 2013; 33: 2398 - 2407. [Myc-tagged rat parkin]

Functional analysis of sucrase–isomaltase mutations from chronic lymphocytic leukemia patients, David Rodríguez, Andrew J. Ramsay, Víctor Quesada, Cecilia Garabaya, Elías Campo, José M. P. Freije, and Carlos López-Otín, Hum. Mol. Genet., Feb 2013; 10.1093/hmg/ddt078. [SI]

Mutation of the ATP-gated P2X2 receptor leads to progressive hearing loss and increased susceptibility to noise, Denise Yan, Yan Zhu, Tom Walsh, Dinghua Xie, Huijun Yuan, Asli Sirmaci, Taro Fujikawa, Ann Chi Yan Wong, Tze L. Loh, Lilin Du, M’hamed Grati, Srdjan M. Vlajkovic, Susan Blanton, Allen F. Ryan, Zheng-Yi Chen, Peter R. Thorne, Bechara Kachar, Mustafa Tekin, Hong-Bo Zhao, Gary D. Housley, Mary-Claire King, and Xue Z. Liu, PNAS, Feb 2013; 110: 2228 - 2233. [P2RX2 ]

More TrueClone Citations >>

DKC1 Mouse Clones

SKU	Description	Amount	Price	Shipping
MC217214	Mus musculus dyskeratosis congenita 1, dyskerin homolog (human) (Dkc1) as transfection-ready DNA	10 ug	$610	4 weeks
MR208185	Myc-DDK-tagged ORF clone of Mus musculus dyskeratosis congenita 1, dyskerin homolog (human) (Dkc1) as transfection-ready DNA	10 ug	$610	4 weeks
MG208185	GFP-tagged ORF clone of Mus musculus dyskeratosis congenita 1, dyskerin homolog (human) (Dkc1) in a GFP expression vector	10 ug	$670	3 weeks

DKC1 Rat Clones

SKU	Description	Amount	Price	Shipping
RN200986	NativeORF clone of Rattus norvegicus dyskeratosis congenita 1, dyskerin (Dkc1) as transfection-ready DNA	10 ug	$612	4 weeks
RR200986	Myc-DDK-tagged ORF clone of Rattus norvegicus dyskeratosis congenita 1, dyskerin (Dkc1) as transfection-ready DNA	10 ug	$612	4 weeks

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DKC1 (NM_001142463) Human cDNA ORF Clone

Western Blot Validated

ORF Clones Citations:

DKC1 Mouse Clones

DKC1 Rat Clones

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