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OTC cDNA ORF clone, Homo sapiens (human)

Gene Symbol OTC
Entrez Gene ID 5009
Full Name ornithine carbamoyltransferase
Synonyms OCTD
General protein information
Preferred Names
ornithine carbamoyltransferase, mitochondrial
Names
ornithine carbamoyltransferase, mitochondrial
OTCase
ornithine transcarbamylase
NP_000522.3
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xp21.1

Summary This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. [provided by RefSeq, Jul 2008]. lac of sum
Disorder MIM:

300461

Disorder Html: Ornithine transcarbamylase deficiency, 311250 (3)

mRNA and Protein(s)

mRNA Protein Name
NM_000531 NP_000522 ornithine carbamoyltransferase, mitochondrial precursor



Homo sapiens (human) OTC NP_000522.3
Canis lupus familiaris (dog) OTC XP_537995.1
Bos taurus (cattle) OTC NP_803453.1
Mus musculus (house mouse) Otc NP_032795.1
Rattus norvegicus (Norway rat) Otc NP_037210.1
Gallus gallus (chicken) OTC NP_990241.1
Danio rerio (zebrafish) otc XP_001334671.1
Arabidopsis thaliana (thale cress) OTC NP_177667.1
Xenopus (Silurana) tropicalis (western clawed frog) otc NP_001005795.1


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

The following OTC gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the OTC 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 RefSeq Accession Definition **Vector *Turnaround time Price Select
OHu24757
NM_000531 Homo sapiens ornithine carbamoyltransferase (OTC), mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$189.50-$265.30
$379.00
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
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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.


CloneID OHu24757
Clone ID Related Accession (Same CDS sequence) NM_000531
Accession Version NM_000531.5 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1065bp)
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 COA
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product ornithine carbamoyltransferase, mitochondrial precursor
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC107153.1, AK292757.1 and AI247721.1. This sequence is a reference standard in the RefSeqGene project. On Aug 21, 2008 this sequence version replaced gi:156631003. 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. ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## ##Evidence-Data-START## Transcript exon combination :: BC107153.1, K02100.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2142348 [ECO:0000348] ##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
961
1021
ATGCTGTTTA ATCTGAGGAT CCTGTTAAAC AATGCAGCTT TTAGAAATGG TCACAACTTC 
ATGGTTCGAA ATTTTCGGTG TGGACAACCA CTACAAAATA AAGTGCAGCT GAAGGGCCGT
GACCTTCTCA CTCTAAAAAA CTTTACCGGA GAAGAAATTA AATATATGCT ATGGCTATCA
GCAGATCTGA AATTTAGGAT AAAACAGAAA GGAGAGTATT TGCCTTTATT GCAAGGGAAG
TCCTTAGGCA TGATTTTTGA GAAAAGAAGT ACTCGAACAA GATTGTCTAC AGAAACAGGC
TTTGCACTTC TGGGAGGACA TCCTTGTTTT CTTACCACAC AAGATATTCA TTTGGGTGTG
AATGAAAGTC TCACGGACAC GGCCCGTGTA TTGTCTAGCA TGGCAGATGC AGTATTGGCT
CGAGTGTATA AACAATCAGA TTTGGACACC CTGGCTAAAG AAGCATCCAT CCCAATTATC
AATGGGCTGT CAGATTTGTA CCATCCTATC CAGATCCTGG CTGATTACCT CACGCTCCAG
GAACACTATA GCTCTCTGAA AGGTCTTACC CTCAGCTGGA TCGGGGATGG GAACAATATC
CTGCACTCCA TCATGATGAG CGCAGCGAAA TTCGGAATGC ACCTTCAGGC AGCTACTCCA
AAGGGTTATG AGCCGGATGC TAGTGTAACC AAGTTGGCAG AGCAGTATGC CAAAGAGAAT
GGTACCAAGC TGTTGCTGAC AAATGATCCA TTGGAAGCAG CGCATGGAGG CAATGTATTA
ATTACAGACA CTTGGATAAG CATGGGACAA GAAGAGGAGA AGAAAAAGCG GCTCCAGGCT
TTCCAAGGTT ACCAGGTTAC AATGAAGACT GCTAAAGTTG CTGCCTCTGA CTGGACATTT
TTACACTGCT TGCCCAGAAA GCCAGAAGAA GTGGATGATG AAGTCTTTTA TTCTCCTCGA
TCACTAGTGT TCCCAGAGGC AGAAAACAGA AAGTGGACAA TCATGGCTGT CATGGTGTCC
CTGCTGACAG ATTACTCACC TCAGCTCCAG AAGCCTAAAT TTTGA

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

RefSeq NP_000522.3
CDS215..1279
Misc Feature(1)206..208(+)
Misc Feature(2)320..1240(+)
Misc Feature(3)332..760(+)
Misc Feature(4)476..478(+)
Misc Feature(5)482..496(+)
Misc Feature(6)716..727(+)
Misc Feature(7)773..1237(+)
Misc Feature(8)1001..1015(+)
Misc Feature(9)1118..1129(+)
Exon (1)1..291
Gene:OTC
Gene Synonym:
Exon (2)292..430
Gene:OTC
Gene Synonym:
Exon (3)431..512
Gene:OTC
Gene Synonym:
Exon (4)513..600
Gene:OTC
Gene Synonym:
Exon (5)601..754
Gene:OTC
Gene Synonym:
Exon (6)755..877
Gene:OTC
Gene Synonym:
Exon (7)878..931
Gene:OTC
Gene Synonym:
Exon (8)932..1081
Gene:OTC
Gene Synonym:
Exon (9)1082..1219
Gene:OTC
Gene Synonym:
Exon (10)1220..1647
Gene:OTC
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_000531
Organism Homo sapiens (human)
Definition Homo sapiens ornithine carbamoyltransferase (OTC), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_000531

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
ATGCTGTTTA ATCTGAGGAT CCTGTTAAAC AATGCAGCTT TTAGAAATGG TCACAACTTC 
ATGGTTCGAA ATTTTCGGTG TGGACAACCA CTACAAAATA AAGTGCAGCT GAAGGGCCGT
GACCTTCTCA CTCTAAAAAA CTTTACCGGA GAAGAAATTA AATATATGCT ATGGCTATCA
GCAGATCTGA AATTTAGGAT AAAACAGAAA GGAGAGTATT TGCCTTTATT GCAAGGGAAG
TCCTTAGGCA TGATTTTTGA GAAAAGAAGT ACTCGAACAA GATTGTCTAC AGAAACAGGC
TTTGCACTTC TGGGAGGACA TCCTTGTTTT CTTACCACAC AAGATATTCA TTTGGGTGTG
AATGAAAGTC TCACGGACAC GGCCCGTGTA TTGTCTAGCA TGGCAGATGC AGTATTGGCT
CGAGTGTATA AACAATCAGA TTTGGACACC CTGGCTAAAG AAGCATCCAT CCCAATTATC
AATGGGCTGT CAGATTTGTA CCATCCTATC CAGATCCTGG CTGATTACCT CACGCTCCAG
GAACACTATA GCTCTCTGAA AGGTCTTACC CTCAGCTGGA TCGGGGATGG GAACAATATC
CTGCACTCCA TCATGATGAG CGCAGCGAAA TTCGGAATGC ACCTTCAGGC AGCTACTCCA
AAGGGTTATG AGCCGGATGC TAGTGTAACC AAGTTGGCAG AGCAGTATGC CAAAGAGAAT
GGTACCAAGC TGTTGCTGAC AAATGATCCA TTGGAAGCAG CGCATGGAGG CAATGTATTA
ATTACAGACA CTTGGATAAG CATGGGACAA GAAGAGGAGA AGAAAAAGCG GCTCCAGGCT
TTCCAAGGTT ACCAGGTTAC AATGAAGACT GCTAAAGTTG CTGCCTCTGA CTGGACATTT
TTACACTGCT TGCCCAGAAA GCCAGAAGAA GTGGATGATG AAGTCTTTTA TTCTCCTCGA
TCACTAGTGT TCCCAGAGGC AGAAAACAGA AAGTGGACAA TCATGGCTGT CATGGTGTCC
CTGCTGACAG ATTACTCACC TCAGCTCCAG AAGCCTAAAT TTTGA

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

book

Hyperammonemic coma in an ornithine transcarbamylase mutation carrier following antepartum corticosteroids
J Perinatol 31 (10), 682-684 (2011)
Lipskind S, Loanzon S, Simi E and Ouyang DW.


book

An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiency
Mol. Genet. Metab. 101 (4), 413-416 (2010)
Quintero-Rivera F, Deignan JL, Peredo J, Grody WW, Crandall B, Sims M and Cederbaum SD.


book

Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency
Hum. Mutat. 31 (4), E1294-E1303 (2010)
Luksan O, Jirsa M, Eberova J, Minks J, Treslova H, Bouckova M, Storkanova G, Vlaskova H, Hrebicek M and Dvorakova L.


book

Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations
J. Hum. Genet. 55 (1), 18-22 (2010)
Numata S, Koda Y, Ihara K, Sawada T, Okano Y, Matsuura T, Endo F, Yoo HW, Arranz JA, Rubio V, Wermuth B, Ah Mew N, Tuchman M, Pinner JR, Kirk EP and Yoshino M.


book

Ornithine Transcarbamylase Deficiency
(in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Lichter-Konecki,U., Caldovic,L., Morizono,H. and Simpson,K.


book

Urea Cycle Disorders Overview
(in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Lanpher,B.C., Gropman,A., Chapman,K.A., Lichter-Konecki,U., Urea Cycle Disorders,Consortium. and Summar,M.L.


book

Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism
Pediatr. Res. 32 (5), 600-604 (1992)
Tuchman M, Holzknecht RA, Gueron AB, Berry SA and Tsai MY.


book

Site specific screening for point mutations in ornithine transcarbamylase deficiency
J. Med. Genet. 29 (7), 471-475 (1992)
Feldmann D, Rozet JM, Pelet A, Hentzen D, Briand P, Hubert P, Largilliere C, Rabier D, Farriaux JP and Munnich A.


book

Screening for gene deletions and known mutations in 13 patients with ornithine transcarbamylase deficiency
Biochem. Med. Metab. Biol. 47 (3), 250-259 (1992)
Suess PJ, Tsai MY, Holzknecht RA, Horowitz M and Tuchman M.


book

Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin
J. Infect. 24 (3), 317-320 (1992)
Dawson SJ and White LA.


 
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