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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

Names

ornithine carbamoyltransferase, mitochondrial
OTCase
ornithine transcarbamylase

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

X

Xp11.4

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].
Disorder MIM:

300461

Disorder Html: Ornithine transcarbamylase deficiency, 311250 (3)

mRNA and Protein(s)

mRNA Protein Name
XM_017029556.1 XP_016885045.1 ornithine carbamoyltransferase, mitochondrial isoform X1
NM_000531.5 NP_000522.3 ornithine carbamoyltransferase, mitochondrial precursor



Canis lupus familiaris (dog) OTC XP_537995.1
Gallus gallus (chicken) OTC NP_990241.1
Schizosaccharomyces pombe (fission yeast) arg3 NP_593692.1
Neurospora crassa NCU01667 XP_956873.2
Danio rerio (zebrafish) otc XP_001334671.1
Saccharomyces cerevisiae (baker's yeast) ARG3 NP_012447.1
Xenopus tropicalis (tropical clawed frog) otc NP_001005795.1
Homo sapiens (human) OTC NP_000522.3
Kluyveromyces lactis KLLA0F14366g XP_455725.1
Magnaporthe oryzae (rice blast fungus) MGG_01102 XP_003717832.1
Rattus norvegicus (Norway rat) Otc NP_037210.1
Bos taurus (cattle) OTC NP_803453.1
Mus musculus (house mouse) Otc NP_032795.1
Eremothecium gossypii AGOS_AFR098W NP_985645.1
Arabidopsis thaliana (thale cress) OTC NP_177667.1


Related articles in PubMed

A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia.
Mohamed S, Hamad MH, Kondkar AA, Abu-Amero KK
Saudi medical journal36(10)1229-32(2015 Oct)

Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
Choi JH, Lee BH, Kim JH, Kim GH, Kim YM, Cho J, Cheon CK, Ko JM, Lee JH, Yoo HW
Journal of human genetics60(9)501-7(2015 Sep)

Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.
Caldovic L, Abdikarim I, Narain S, Tuchman M, Morizono H
Journal of genetics and genomics = Yi chuan xue bao42(5)181-94(2015 May)

Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.
Rivera-Barahona A, Sánchez-Alcudia R, Viecelli HM, Rüfenacht V, Pérez B, Ugarte M, Häberle J, Thöny B, Desviat LR
PloS one10(4)e0122966(2015)

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

Sanger sequencing of the ornithine transcarbamylase (OTC) gene revealed a novel hemizygous deletion at the fourth nucleotide of intron 4 (c.386+4delT) in a child with hyperammonemia and his asymptomatic mother.
Title: A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia.

In Korean patients with OTC deficiency, mutations in OTC are genetically heterogeneous.
Title: Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.

OTC mutation and phenotype in ornithine transcarbamylase deficiency
Title: Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.

The corresponding OTC tissue enzyme activities were between 3-6% of normal control in mouse and human liver. The use of the cryptic splice sites was reproduced in minigenes carrying murine or human mutant sequences
Title: Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.

Data indicate that all of the three patients have carried ornithine transcarbamylase gene mutations, patients 1 and 2 were both hemizygous for mutation c.586G> A(p.D196N).
Title: [Analysis of ornithine transcarbamylase gene mutations in three boys affected with late-onset ornithine transcarbamylase deficiency].

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.

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***CloneID RefSeq Accession Definition **Vector *Turnaround time Price (USD) Select
OHu24757 NM_000531.5
Latest version!
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
OHu99325 XM_017029556.1
Latest version!
Homo sapiens ornithine carbamoyltransferase (OTC), transcript variant X1, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 9-11 $139.30
$199.00

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2-4 Clone 40% OFF
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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 OHu24757
Clone ID Related Accession (Same CDS sequence) NM_000531.5
Accession Version NM_000531.5 Latest version! 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
Insert Structure linear
Update Date 2017-05-07
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 NM_000531.4. 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 :: BC107153.1, SRR1660803.257899.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-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)335..757
Misc Feature(4)422..424
Misc Feature(5)422..424
Misc Feature(6)452..454
Misc Feature(7)476..478
Misc Feature(8)476..478
Misc Feature(9)482..496
Misc Feature(10)611..613
Misc Feature(11)644..646
Misc Feature(12)644..646
Misc Feature(13)716..727
Misc Feature(14)776..1237
Misc Feature(15)875..877
Misc Feature(16)875..877
Misc Feature(17)905..907
Misc Feature(18)905..907
Misc Feature(19)926..928
Misc Feature(20)926..928
Misc Feature(21)941..943
Misc Feature(22)1001..1015
Misc Feature(23)1034..1036
Misc Feature(24)1079..1081
Misc Feature(25)1088..1090
Misc Feature(26)1088..1090
Misc Feature(27)1118..1129
Misc Feature(28)1133..1135
Misc Feature(29)1133..1135
Exon (1)1..291
Exon (2)292..430
Exon (3)431..512
Exon (4)513..600
Exon (5)601..754
Exon (6)755..877
Exon (7)878..931
Exon (8)932..1081
Exon (9)1082..1219
Exon (10)1220..1647
Translation

Target ORF information:

RefSeq Version NM_000531.5
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_000531.5

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.

CloneID OHu99325
Clone ID Related Accession (Same CDS sequence) XM_017029556.1
Accession Version XM_017029556.1 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 936bp)
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 2016-06-06
Organism Homo sapiens(Human)
Product ornithine carbamoyltransferase, mitochondrial isoform X1
Comment MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NC_000023.11) annotated using gene prediction method: Gnomon, supported by EST evidence. Also see: Documentation of NCBI's Annotation Process ##Genome-Annotation-Data-START## Annotation Provider :: NCBI Annotation Status :: Full annotation Annotation Version :: Homo sapiens Annotation Release 108 Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline Annotation Software Version :: 7.0 Annotation Method :: Best-placed RefSeq; Gnomon Features Annotated :: Gene; mRNA; CDS; ncRNA ##Genome-Annotation-Data-END##

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
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 AATGAAGATA CTGAAGAAAA CAAATATGAC TGCCACATAT
AATAGTCAAA AAGTGGTCTT ATCCCCATCT CTTTAG

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

RefSeq XP_016885045.1
CDS170..1105
Translation

Target ORF information:

RefSeq Version XM_017029556.1
Organism Homo sapiens(Human)
Definition Homo sapiens ornithine carbamoyltransferase (OTC), transcript variant X1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
XM_017029556.1

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
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 AATGAAGATA CTGAAGAAAA CAAATATGAC TGCCACATAT
AATAGTCAAA AAGTGGTCTT ATCCCCATCT CTTTAG

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

book

A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia.
Saudi medical journal36(10)1229-32(2015 Oct)
Mohamed S,Hamad MH,Kondkar AA,Abu-Amero KK


book

Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
Journal of human genetics60(9)501-7(2015 Sep)
Choi JH,Lee BH,Kim JH,Kim GH,Kim YM,Cho J,Cheon CK,Ko JM,Lee JH,Yoo HW


book

Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.
Journal of genetics and genomics = Yi chuan xue bao42(5)181-94(2015 May)
Caldovic L,Abdikarim I,Narain S,Tuchman M,Morizono H


book

Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.
PloS one10(4)e0122966(2015)
Rivera-Barahona A,Sánchez-Alcudia R,Viecelli HM,Rüfenacht V,Pérez B,Ugarte M,Häberle J,Thöny B,Desviat LR


 
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