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Aliases & Descriptions for OTC
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| EC 2.1.3.3 3 | | MGC129967 2 | | MGC129968 2 | | MGC138856 2 | | OCTD 2 | | OTCase 3 | | OTTHUMP00000024343 2 |
| | | Descriptions |
|---|
| Ornithine transcarbamylase 2, 3 | | ornithine carbamoyltransferase 2 |
|
| | Search outside databases for aliases for OTC genePrevious GC identifers: GC0XP036316 GC0XP036498 GC0XP037053 GC0XP037242 GC0XP037967 |
Summaries for OTC(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for OTC: 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] Gene Wiki entry for OTC (Ornithine_transcarbamylase) |
Genomic Location for OTC
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the OTC gene 
Entrez Gene cytogenetic band: Xp21.1 Ensembl cytogenetic band: Xp11.4 HGNC cytogenetic band: Xp21.1OTC Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome X GeneLoc Exon Structure GeneLoc location for GC0XP038096:
(about GC identifiers)
Start:
|
38,096,680 bp from pter |
End:
|
38,165,650 bp from pter |
Size:
|
68,971 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000023.9 NT_079573.3
| Proteins for OTC
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: OTC_HUMAN, P00480 (See
protein sequence)Recommended Name: Ornithine carbamoyltransferase, mitochondrial precursor Size: 354 amino acids; 39935 Da
Subunit: Homotrimer
Subcellular location: Mitochondrion matrix
PDB structures from and Proteopedia :1C9Y (3D)
 1EP9 (3D)
 1FVO (3D)
 1OTH (3D)
 
Secondary accessions: Q3KNR1 Q6B0I1 Q9NYJ5Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_000522.3
ENSEMBL proteins: ENSP00000039007
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
4 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for OTC: Assays for OTC: | Protein
Domains/ Families for OTC(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P00480
ProtoNet protein and cluster: P00480 1 Blocks protein family: IPB002292 Ornithine carbamoyltransferase signature
UniProtKB/Swiss-Prot: OTC_HUMAN, P00480Similarity: Belongs to the ATCase/OTCase family | Gene Function for OTC
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000531
Applied Biosystems Silencer® siRNAs for OTC
Sigma-Aldrich siRNA and siRNA Panels for OTC  Sigma-Aldrich shRNA for OTC  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000531                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000531                                  untagged cDNA clone in CMV expression vector: NM_000531 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000531
UniProtKB/Swiss-Prot: OTC_HUMAN, P00480Catalytic activity: Carbamoyl phosphate + L-ornithine = phosphate + L-citrullineEnzyme Number (IUBMB): EC 2.1.3.3 Genatlas biochemistry entry for OTC:ornithine carbamoyltransferase,ornithine metabolism,urea cycle,mitochondrial matrix7 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Otc):
5 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for OTC
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 2 Sigma-Aldrich "Your Favorite Gene" Pathways for OTC (Your Favorite Gene powered by Ingenuity) 
UniProtKB/Swiss-Prot: OTC_HUMAN, P00480Pathway: Nitrogen metabolism; urea cycle; L-citrulline from L-ornithine and carbamoyl phosphate: step 1/1 5/22 Interacting proteins for OTC (ENSP000000390073) via UniProtKB, MINT, and/or STRING (see all 22
)About this table
4 Gene Ontology (GO) biological process terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000050 | urea cycle |
NAS | -- | | GO:0006526 | arginine biosynthetic process |
NAS | -- | | GO:0008652 | amino acid biosynthetic process |
IEA | -- | | GO:0051259 | protein oligomerization |
IEA | -- | About this table
|
Drugs & Compounds for OTC(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for OTC 10/33 Novoseek chemical compound relationships for OTC gene (see all 33
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| ornithine |
97.54 |
977 |
1549234 (6), 2342523 (6), 14607061 (5), 7499756 (5) (see all 99) |
| carbamoyl phosphate |
90.90 |
77 |
10813810 (3), 11388595 (3), 9540805 (2), 1720458 (2) (see all 42) |
| orotidine |
85.23 |
5 |
2342523 (2), 10388475 (2), 11117427 (1) |
| urea |
76.11 |
83 |
17098461 (3), 15050979 (2), 10946359 (2), 11276280 (2) (see all 46) |
| norvaline |
69.72 |
7 |
10813810 (2), 18062991 (1), 11237854 (1) |
| n-acetylglutamate |
68.40 |
6 |
2342831 (1), 2208834 (1), 15164414 (1), 1313366 (1) (see all 5) |
| phaseolotoxin |
65.90 |
2 |
8407821 (1), 10357851 (1) |
| n-acetylornithine |
59.84 |
2 |
15731101 (2) |
| mspi |
56.30 |
5 |
1353535 (1), 9427144 (1), 7860064 (1), 1806371 (1) (see all 5) |
| ammonium |
45.58 |
4 |
8464164 (1), 19318352 (1), 16774619 (1) |
About this table
|
Transcripts for OTC(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000531
Sigma-Aldrich siRNA and siRNA Panels for OTC  Sigma-Aldrich shRNA for OTC  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000531 REFSEQ mRNAs for OTC gene: NM_000531.5
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000531               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000531                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000531                                  untagged cDNA clone in CMV expression vector: NM_000531  Additional cDNA sequence: AK292757.1 BC074745.2 BC107153.1 BC107154.1 BC114496.1 K02100.1 2 DOTS entries: DT.410164 DT.91668489 13 AceView cDNA sequences:BX118743 AA677307 AI032960 BX494966 CB158478 NM_000531 BC074745 AV682105 AA463601 BX496295 K02100 AA677326 AI023397
highest scoring ESTs for OTC:K02100 AA677307 AA677326 AI023397 AI032960 AI247721 BX494966 BC074745 BG197188 BG198056 Unigene Cluster for OTC: Ornithine carbamoyltransferase Hs.117050 [show with all ESTs]Unigene Representative Sequence: NM_000531
GeneLoc Exon Structure
1 Ensembl transcript including schematic representation: ENST00000039007
|
Expression for OTC
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| OTC expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for OTC
1 / 2 / 3 4 probe-sets matching OTC gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: GTGTCCCTGC
SOURCE GeneReport for Unigene cluster: Hs.117050
Expression variation in blood from EXPOLDB for OTC UniProtKB/Swiss-Prot: OTC_HUMAN, P00480Tissue specificity: Mainly in liver and intestinal mucosa |
Orthologs for OTC
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for OTC gene from 5/16 species (see all 16
)
About this table Species with no ortholog for OTC
ENSEMBL Gene Tree for OTC | Paralogs for OTC(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for OTC(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for OTC (up to first 250kb)
|
Disorders & Mutations for OTC
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 300461 disorders: 311250 UniProtKB/Swiss-Prot: OTC_HUMAN, P00480
Defects in OTC are the cause of ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]. OTCD is an X-linked disorder of the urea cycle which causes a form of hyperammonemia. Mutations with no residual enzyme activity are always expressed in hemizygote males by a very severe neonatal hyperammonemic coma that generally proves to be fatal. Heterozygous females are either asymptomatic or express orotic aciduria spontaneously or after protein intake. The disorder is treatable with supplemental dietary arginine and low protein diet. The arbitrary classification of patients into the "neonatal" group (clinical hyperammonemia in the first few days of life) and "late" onset (clinical presentation after the neonatal period) has been used to differentiate severe from mild forms10/65 Novoseek disease relationships for OTC gene (see all 65
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| ornithine transcarbamylase deficiency |
99.47 |
361 |
14607061 (5), 7797025 (4), 7499756 (4), 2208834 (4) (see all 99) |
| hyperammonemia |
95.36 |
93 |
1549234 (4), 1742044 (2), 16575347 (2), 12777539 (2) (see all 64) |
| orotic aciduria |
95.00 |
13 |
18440262 (1), 1456259 (1), 7499756 (1), 8938172 (1) (see all 11) |
| ornithine carbamoyltransferase deficiency disease |
90.13 |
4 |
12974275 (1), 2298453 (1), 12974280 (1), 12974271 (1) |
| citrullinemia |
84.56 |
18 |
18562231 (2), 10869432 (1), 11337324 (1), 19217439 (1) (see all 8) |
| argininosuccinate lyase deficiency |
83.60 |
10 |
18616627 (2), 10869432 (1), 19217439 (1), 15164414 (1) |
| carbamoyl phosphate synthetase deficiency |
80.65 |
3 |
1863104 (1), 1720458 (1), 15863597 (1) |
| aciduria argininosuccinic |
75.55 |
5 |
18562231 (2), 11148551 (1), 7717428 (1) |
| enzyme deficiency |
75.36 |
6 |
8464164 (1), 16774619 (1), 8099056 (1), 8677801 (1) (see all 5) |
| hyperargininemia |
75.19 |
5 |
15798789 (1), 18033025 (1), 1404883 (1), 15164414 (1) (see all 5) |
About this table
Genatlas disease: OTC neonatal distress and hyperammonemia,including late-onset hyperammonemic coma Human Gene Mutation Database: OTC Human Genome Epidemiology Navigator: OTC (3 documents)
|
Medical News for OTC(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for OTC (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/376 PubMed articles for OTC gene (see all 376
):- Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency. (PubMed id 10502831)1, 3, 4 Climent C.... Rubio V. (1999)
- The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency. (PubMed id 9286441)1, 3, 4 Matsuda I. and Tanase S. (1997)
- Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families. (PubMed id 8830175)1, 3, 4 Yoo H.-W.... Lee D.-H. (1996)
- Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency. (PubMed id 11793483)1, 3, 4 Climent C. and Rubio V. (2002)
- Improved molecular diagnostics for ornithine transcarbamylase deficiency. (PubMed id 1671317)1, 3, 4 Grompe M.... Fenwick R.G. Jr. (1991)
- Expression, purification and kinetic characterization of wild-type human ornithine transcarbamylase and a recurrent mutant that produces 'late onset' hyperammonaemia. (PubMed id 9065786)1, 3, 4 Morizono H.... Allewell N.M. (1997)
- Crystal structure of human ornithine transcarbamylase complexed with carbamoyl phosphate and L-norvaline at 1.9 A resolution. (PubMed id 10813810)1, 3, 4 Shi D.... Allewell N.M. (2000)
- Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency. (PubMed id 9266388)1, 3, 4 Tuchman M.... Allewell N.M. (1997)
- Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms. (PubMed id 8956038)1, 3, 4 Leibundgut E.O.... Liechti-Gallati S. (1996)
- A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency. (PubMed id 8530002)1, 3, 4 Garcia-Perez M.A....Rubio V. (1995)
|
Search for OTC
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing OTC
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing OTC
(According to HUGE)
About This Section
| -- |
Specialized Databases showing OTC(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| OTC | http://63.75.201.100/otc/index.asp | | GeneReviews | http://www.genetests.org/query?gene=OTC |
|
| | | About This Section
| --
| Services for OTC(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for OTC:

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