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Protein

Ornithine carbamoyltransferase, mitochondrial

Gene

OTC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Negatively regulated by lysine acetylation.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: urea cycle

This protein is involved in step 1 of the subpathway that synthesizes L-citrulline from L-ornithine and carbamoyl phosphate.
Proteins known to be involved in this subpathway in this organism are:
  1. Ornithine carbamoyltransferase, mitochondrial (OTC)
This subpathway is part of the pathway urea cycle, which is itself part of Nitrogen metabolism.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes L-citrulline from L-ornithine and carbamoyl phosphate, the pathway urea cycle and in Nitrogen metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei141Carbamoyl phosphate1
Binding sitei141Ornithine1
Binding sitei199Ornithine1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei303By similarity1
Binding sitei330Carbamoyl phosphate1
Binding sitei330Ornithine1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionTransferase
Biological processAmino-acid biosynthesis, Arginine biosynthesis, Urea cycle

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS00516-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
2.1.3.3 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-1268020 Mitochondrial protein import
R-HSA-70635 Urea cycle

SABIO-RK: Biochemical Reaction Kinetics Database

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SABIO-RKi
P00480

SIGNOR Signaling Network Open Resource

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SIGNORi
P00480

UniPathway: a resource for the exploration and annotation of metabolic pathways

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UniPathwayi
UPA00158;UER00271

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Ornithine carbamoyltransferase, mitochondrial (EC:2.1.3.3)
Alternative name(s):
Ornithine transcarbamylase
Short name:
OTCase
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:OTC
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000036473.6

Human Gene Nomenclature Database

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HGNCi
HGNC:8512 OTC

Online Mendelian Inheritance in Man (OMIM)

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MIMi
300461 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P00480

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Ornithine carbamoyltransferase deficiency (OTCD)32 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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 forms.
See also OMIM:311250
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00484326R → Q in OTCD. 1 PublicationCorresponds to variant dbSNP:rs68031618EnsemblClinVar.1
Natural variantiVAR_00484439G → C in OTCD; late onset. 1 PublicationCorresponds to variant dbSNP:rs72554306EnsemblClinVar.1
Natural variantiVAR_00484540R → C in OTCD; late onset. Corresponds to variant dbSNP:rs72554307EnsemblClinVar.1
Natural variantiVAR_00484640R → H in OTCD; late onset. 2 PublicationsCorresponds to variant dbSNP:rs72554308EnsemblClinVar.1
Natural variantiVAR_00484844T → I in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72554310EnsemblClinVar.1
Natural variantiVAR_00484945L → P in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72554312EnsemblClinVar.1
Natural variantiVAR_00485045L → V in OTCD. Corresponds to variant dbSNP:rs72554311EnsemblClinVar.1
Natural variantiVAR_00485247N → I in OTCD; neonatal. Corresponds to variant dbSNP:rs67939655EnsemblClinVar.1
Natural variantiVAR_00485350G → R in OTCD; late onset. Corresponds to variant dbSNP:rs67486158EnsemblClinVar.1
Natural variantiVAR_00485455Y → D in OTCD; late onset. 1 PublicationCorresponds to variant dbSNP:rs72554319EnsemblClinVar.1
Natural variantiVAR_00485556M → T in OTCD; late onset. Corresponds to variant dbSNP:rs72554320EnsemblClinVar.1
Natural variantiVAR_00485660S → L in OTCD. Corresponds to variant dbSNP:rs72554323EnsemblClinVar.1
Natural variantiVAR_00485763L → P in OTCD; late onset. 1 PublicationCorresponds to variant dbSNP:rs72554324EnsemblClinVar.1
Natural variantiVAR_00485879G → E in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72554331EnsemblClinVar.1
Natural variantiVAR_00485982Missing in OTCD. 1
Natural variantiVAR_00486083G → D in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72554337EnsemblClinVar.1
Natural variantiVAR_00486183G → R in OTCD; neonatal. Corresponds to variant dbSNP:rs72554336EnsemblClinVar.1
Natural variantiVAR_00486287E → K in OTCD. Corresponds to variant dbSNP:rs72554338EnsemblClinVar.1
Natural variantiVAR_00486388K → N in OTCD; late onset. 2 PublicationsCorresponds to variant dbSNP:rs72554339EnsemblClinVar.1
Natural variantiVAR_00486490S → R in OTCD. Corresponds to variant dbSNP:rs72554342EnsemblClinVar.1
Natural variantiVAR_00486592R → Q in OTCD. 1 PublicationCorresponds to variant dbSNP:rs66550389EnsemblClinVar.1
Natural variantiVAR_00486693T → A in OTCD; late onset. Corresponds to variant dbSNP:rs72554344EnsemblClinVar.1
Natural variantiVAR_00486794R → T in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72554345EnsemblClinVar.1
Natural variantiVAR_004868100G → D in OTCD; late onset. 1 PublicationCorresponds to variant dbSNP:rs72554349EnsemblClinVar.1
Natural variantiVAR_004870102A → E in OTCD. Corresponds to variant dbSNP:rs72554350EnsemblClinVar.1
Natural variantiVAR_004872117H → L in OTCD. 1 PublicationCorresponds to variant dbSNP:rs66539573EnsemblClinVar.1
Natural variantiVAR_004873117H → R in OTCD; late onset. Corresponds to variant dbSNP:rs66539573EnsemblClinVar.1
Natural variantiVAR_004874125T → M in OTCD; neonatal. 1 PublicationCorresponds to variant dbSNP:rs72554356EnsemblClinVar.1
Natural variantiVAR_004875126D → G in OTCD; 0.9% of wild-type activity; early onset. 1 PublicationCorresponds to variant dbSNP:rs72554358EnsemblClinVar.1
Natural variantiVAR_004876129R → H in OTCD; 2.1% of wild-type activity; early onset. 2 PublicationsCorresponds to variant dbSNP:rs66656800EnsemblClinVar.1
Natural variantiVAR_004877139L → S in OTCD. Corresponds to variant dbSNP:rs72556259EnsemblClinVar.1
Natural variantiVAR_010605140A → P in OTCD; late onset. 1 PublicationCorresponds to variant dbSNP:rs72556260EnsemblClinVar.1
Natural variantiVAR_004878141R → P in OTCD. Corresponds to variant dbSNP:rs68026851EnsemblClinVar.1
Natural variantiVAR_004879141R → Q in OTCD; activity is 100-fold lower; most common point mutation. 3 PublicationsCorresponds to variant dbSNP:rs68026851EnsemblClinVar.1
Natural variantiVAR_004880148L → F in OTCD. Corresponds to variant dbSNP:rs66741318EnsemblClinVar.1
Natural variantiVAR_004881159I → T in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72556269EnsemblClinVar.1
Natural variantiVAR_012651160I → S in OTCD. 1 PublicationCorresponds to variant dbSNP:rs67954347EnsemblClinVar.1
Natural variantiVAR_004882161N → S in OTCD. Corresponds to variant dbSNP:rs72556271EnsemblClinVar.1
Natural variantiVAR_004883162G → R in OTCD. Corresponds to variant dbSNP:rs66626662EnsemblClinVar.1
Natural variantiVAR_004884168H → Q in OTCD; late onset. Corresponds to variant dbSNP:rs72556276EnsemblClinVar.1
Natural variantiVAR_004885168H → R in OTCD; late onset. Corresponds to variant dbSNP:rs66867430EnsemblClinVar.1
Natural variantiVAR_009233172I → F in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72556279EnsemblClinVar.1
Natural variantiVAR_004886172I → M in OTCD; no activity; early onset. 1 PublicationCorresponds to variant dbSNP:rs72556280EnsemblClinVar.1
Natural variantiVAR_004887174A → P in OTCD. Corresponds to variant dbSNP:rs72556281EnsemblClinVar.1
Natural variantiVAR_004888175D → V in OTCD. Corresponds to variant dbSNP:rs68033093EnsemblClinVar.1
Natural variantiVAR_004889176Y → C in OTCD; late onset. 1 PublicationCorresponds to variant dbSNP:rs72556283EnsemblClinVar.1
Natural variantiVAR_004891178 – 179Missing in OTCD; neonatal. 2
Natural variantiVAR_004890178T → M in OTCD; neonatal. Corresponds to variant dbSNP:rs72556284EnsemblClinVar.1
Natural variantiVAR_004892180Q → H in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72556287EnsemblClinVar.1
Natural variantiVAR_004893181E → G in OTCD; neonatal. Corresponds to variant dbSNP:rs72556290EnsemblClinVar.1
Natural variantiVAR_004894182H → L in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72556291EnsemblClinVar.1
Natural variantiVAR_004895183Y → C in OTCD. Corresponds to variant dbSNP:rs72556293EnsemblClinVar.1
Natural variantiVAR_004896183Y → D in OTCD; late onset. 1 PublicationCorresponds to variant dbSNP:rs72556292EnsemblClinVar.1
Natural variantiVAR_004897188G → R in OTCD; neonatal. 1 PublicationCorresponds to variant dbSNP:rs72556294EnsemblClinVar.1
Natural variantiVAR_009234188G → V in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72556295EnsemblClinVar.1
Natural variantiVAR_012652191L → F in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72556296EnsemblClinVar.1
Natural variantiVAR_004898192S → R in OTCD; neonatal. Corresponds to variant dbSNP:rs72556298EnsemblClinVar.1
Natural variantiVAR_004899195G → R in OTCD; no activity. 2 PublicationsCorresponds to variant dbSNP:rs67294955EnsemblClinVar.1
Natural variantiVAR_004900196D → V in OTCD; neonatal; 3.7% activity. 1 PublicationCorresponds to variant dbSNP:rs72556300EnsemblClinVar.1
Natural variantiVAR_004901196D → Y in OTCD; neonatal. Corresponds to variant dbSNP:rs66642398EnsemblClinVar.1
Natural variantiVAR_004902197G → E in OTCD. Corresponds to variant dbSNP:rs72556302EnsemblClinVar.1
Natural variantiVAR_009235197G → R in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72556301EnsemblClinVar.1
Natural variantiVAR_010606198N → K in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72558404EnsemblClinVar.1
Natural variantiVAR_004903201L → P in OTCD; neonatal. 1 PublicationCorresponds to variant dbSNP:rs72558407EnsemblClinVar.1
Natural variantiVAR_004904202H → Y in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72558408EnsemblClinVar.1
Natural variantiVAR_004905203S → C in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72558410EnsemblClinVar.1
Natural variantiVAR_012653206M → I in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72558413EnsemblClinVar.1
Natural variantiVAR_004906206M → R in OTCD; neonatal. Corresponds to variant dbSNP:rs72558412EnsemblClinVar.1
Natural variantiVAR_004907207S → R in OTCD; neonatal. 1 PublicationCorresponds to variant dbSNP:rs72558415EnsemblClinVar.1
Natural variantiVAR_004908208A → T in OTCD; late onset. Corresponds to variant dbSNP:rs72558416EnsemblClinVar.1
Natural variantiVAR_004909209A → V in OTCD; neonatal. 3 PublicationsCorresponds to variant dbSNP:rs72558417EnsemblClinVar.1
Natural variantiVAR_004910213M → K in OTCD; late onset. 1 Publication1
Natural variantiVAR_010607214H → Y in OTCD; neonatal. 1 PublicationCorresponds to variant dbSNP:rs72558420EnsemblClinVar.1
Natural variantiVAR_004911216Q → E in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72558423EnsemblClinVar.1
Natural variantiVAR_004912220P → A in OTCD; late onset. 1 PublicationCorresponds to variant dbSNP:rs72558425EnsemblClinVar.1
Natural variantiVAR_004913225P → L in OTCD. 1 PublicationCorresponds to variant dbSNP:rs67120076EnsemblClinVar.1
Natural variantiVAR_004914225P → R in OTCD; neonatal. Corresponds to variant dbSNP:rs67120076EnsemblClinVar.1
Natural variantiVAR_004915225P → T in OTCD; late onset. 1 PublicationCorresponds to variant dbSNP:rs72558428EnsemblClinVar.1
Natural variantiVAR_004916242T → I in OTCD; late onset. Corresponds to variant dbSNP:rs72558435EnsemblClinVar.1
Natural variantiVAR_004917244L → Q in OTCD; late onset. 1 PublicationCorresponds to variant dbSNP:rs72558436EnsemblClinVar.1
Natural variantiVAR_004918247T → K in OTCD; neonatal/late onset. Corresponds to variant dbSNP:rs72558437EnsemblClinVar.1
Natural variantiVAR_004919255H → P in OTCD. Corresponds to variant dbSNP:rs72558440EnsemblClinVar.1
Natural variantiVAR_010608262T → K in OTCD; mild. 1 PublicationCorresponds to variant dbSNP:rs67333670EnsemblClinVar.1
Natural variantiVAR_004920263D → G in OTCD. Corresponds to variant dbSNP:rs72558443EnsemblClinVar.1
Natural variantiVAR_004921263D → N in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72558442EnsemblClinVar.1
Natural variantiVAR_004922264T → A in OTCD; late onset; 8.9% activity. 2 PublicationsCorresponds to variant dbSNP:rs72558444EnsemblClinVar.1
Natural variantiVAR_004923264T → I in OTCD; late onset. 1 PublicationCorresponds to variant dbSNP:rs67156896EnsemblClinVar.1
Natural variantiVAR_010609265W → L in OTCD; mild. 1 PublicationCorresponds to variant dbSNP:rs72558446EnsemblClinVar.1
Natural variantiVAR_004924267S → R in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72558448EnsemblClinVar.1
Natural variantiVAR_004925268M → T in OTCD; late onset. Corresponds to variant dbSNP:rs72558449EnsemblClinVar.1
Natural variantiVAR_004926269G → E in OTCD; neonatal. 1 PublicationCorresponds to variant dbSNP:rs72558450EnsemblClinVar.1
Natural variantiVAR_004928272Missing in OTCD; late onset. 1 Publication1
Natural variantiVAR_004929277R → Q in OTCD; late onset. 2 PublicationsCorresponds to variant dbSNP:rs66724222EnsemblClinVar.1
Natural variantiVAR_004930277R → W in OTCD; late onset. 2 PublicationsCorresponds to variant dbSNP:rs72558454EnsemblClinVar.1
Natural variantiVAR_012654301L → F in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72558462EnsemblClinVar.1
Natural variantiVAR_004931302H → L in OTCD; female; late onset. 1 PublicationCorresponds to variant dbSNP:rs67993095EnsemblClinVar.1
Natural variantiVAR_004932302H → Q in OTCD; late onset. Corresponds to variant dbSNP:rs67870244EnsemblClinVar.1
Natural variantiVAR_004933302H → Y in OTCD; neonatal. 1 PublicationCorresponds to variant dbSNP:rs72558463EnsemblClinVar.1
Natural variantiVAR_004934303C → R in OTCD; neonatal. 1 PublicationCorresponds to variant dbSNP:rs67468335EnsemblClinVar.1
Natural variantiVAR_004935303C → Y in OTCD. Corresponds to variant dbSNP:rs72558464EnsemblClinVar.1
Natural variantiVAR_004936304L → F in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72558465EnsemblClinVar.1
Natural variantiVAR_012655305P → H in OTCD. 1 PublicationCorresponds to variant dbSNP:rs67501347EnsemblClinVar.1
Natural variantiVAR_004937309Missing in OTCD; late onset. 1 Publication1
Natural variantiVAR_004938320R → L in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72558474EnsemblClinVar.1
Natural variantiVAR_010610326E → K in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72558476EnsemblClinVar.1
Natural variantiVAR_004939330R → G in OTCD. Corresponds to variant dbSNP:rs72558478EnsemblClinVar.1
Natural variantiVAR_004940336A → S in OTCD; late onset. Corresponds to variant dbSNP:rs72558486EnsemblClinVar.1
Natural variantiVAR_004941337V → L in OTCD; late onset. Corresponds to variant dbSNP:rs72558487EnsemblClinVar.1
Natural variantiVAR_004942339V → L in OTCD; neonatal. Corresponds to variant dbSNP:rs72558488EnsemblClinVar.1
Natural variantiVAR_004943340S → P in OTCD; late onset. 1 PublicationCorresponds to variant dbSNP:rs72558489EnsemblClinVar.1
Natural variantiVAR_012657341L → P in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72558490EnsemblClinVar.1
Natural variantiVAR_004944343T → K in OTCD; late onset. 1 PublicationCorresponds to variant dbSNP:rs72558491EnsemblClinVar.1
Natural variantiVAR_004946345Y → C in OTCD; neonatal. Corresponds to variant dbSNP:rs72558492EnsemblClinVar.1
Natural variantiVAR_004947345Y → D in OTCD. 1 PublicationCorresponds to variant dbSNP:rs66469337EnsemblClinVar.1
Natural variantiVAR_004948354F → C in OTCD; late onset. Corresponds to variant dbSNP:rs72558495EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
5009

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
OTC

MalaCards human disease database

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MalaCardsi
OTC
MIMi311250 phenotype

Open Targets

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OpenTargetsi
ENSG00000036473

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
664 Ornithine transcarbamylase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA32840

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL2222

Drug and drug target database

More...
DrugBanki
DB03519 2-Amino-Pentanoic Acid
DB00155 L-Citrulline
DB00129 L-Ornithine
DB02011 N-(Phosphonoacetyl)-L-Ornithine
DB04185 Norvaline

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
OTC

Domain mapping of disease mutations (DMDM)

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DMDMi
84028235

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 32MitochondrionAdd BLAST32
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002033433 – 354Ornithine carbamoyltransferase, mitochondrialAdd BLAST322

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei70N6-acetyllysine; alternateBy similarity1
Modified residuei70N6-succinyllysine; alternateBy similarity1
Modified residuei80N6-succinyllysineBy similarity1
Modified residuei88N6-acetyllysine; alternate1 Publication1
Modified residuei88N6-succinyllysine; alternateBy similarity1
Modified residuei133PhosphoserineCombined sources1
Modified residuei144N6-acetyllysine; alternateBy similarity1
Modified residuei144N6-succinyllysine; alternateBy similarity1
Modified residuei221N6-acetyllysine; alternateBy similarity1
Modified residuei221N6-succinyllysine; alternateBy similarity1
Modified residuei231N6-acetyllysine; alternateBy similarity1
Modified residuei231N6-succinyllysine; alternateBy similarity1
Modified residuei238N6-acetyllysine; alternateBy similarity1
Modified residuei238N6-succinyllysine; alternateBy similarity1
Modified residuei243N6-acetyllysineBy similarity1
Modified residuei274N6-succinyllysineBy similarity1
Modified residuei289N6-succinyllysineBy similarity1
Modified residuei292N6-acetyllysine; alternateBy similarity1
Modified residuei292N6-succinyllysine; alternateBy similarity1
Modified residuei307N6-acetyllysine; alternateBy similarity1
Modified residuei307N6-succinyllysine; alternateBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Acetylation at Lys-88 negatively regulates ornithine carbamoyltransferase activity in response to nutrient signals.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P00480

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P00480

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P00480

PeptideAtlas

More...
PeptideAtlasi
P00480

PRoteomics IDEntifications database

More...
PRIDEi
P00480

ProteomicsDB human proteome resource

More...
ProteomicsDBi
51254

2D gel databases

REPRODUCTION-2DPAGE

More...
REPRODUCTION-2DPAGEi
P00480

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P00480

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P00480

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
P00480

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Mainly expressed in liver and intestinal mucosa.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000036473 Expressed in 77 organ(s), highest expression level in right lobe of liver

CleanEx database of gene expression profiles

More...
CleanExi
HS_OTC

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P00480 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA000243
HPA000570

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homotrimer.2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
111050, 14 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
P00480

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000039007

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P00480

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1354
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1C9YX-ray1.90A34-354[»]
1EP9X-ray2.40A34-354[»]
1FVOX-ray2.60A/B34-354[»]
1OTHX-ray1.85A34-354[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P00480

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
P00480

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P00480

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni90 – 94Ornithine and carbamoyl phosphate binding5
Regioni168 – 171Ornithine and carbamoyl phosphate binding4
Regioni263 – 267Ornithine binding5
Regioni302 – 305Ornithine bindingBy similarity4

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the ATCase/OTCase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1504 Eukaryota
COG0078 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00510000047417

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000022686

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG007881

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P00480

KEGG Orthology (KO)

More...
KOi
K00611

Identification of Orthologs from Complete Genome Data

More...
OMAi
DGNNVCN

Database of Orthologous Groups

More...
OrthoDBi
1404554at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P00480

TreeFam database of animal gene trees

More...
TreeFami
TF352580

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.50.1370, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR006132 Asp/Orn_carbamoyltranf_P-bd
IPR006130 Asp/Orn_carbamoylTrfase
IPR036901 Asp/Orn_carbamoylTrfase_sf
IPR006131 Asp_carbamoyltransf_Asp/Orn-bd
IPR002292 Orn/put_carbamltrans

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00185 OTCace, 1 hit
PF02729 OTCace_N, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00100 AOTCASE
PR00102 OTCASE

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53671 SSF53671, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00658 orni_carb_tr, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00097 CARBAMOYLTRANSFERASE, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P00480-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLFNLRILLN NAAFRNGHNF MVRNFRCGQP LQNKVQLKGR DLLTLKNFTG
60 70 80 90 100
EEIKYMLWLS ADLKFRIKQK GEYLPLLQGK SLGMIFEKRS TRTRLSTETG
110 120 130 140 150
FALLGGHPCF LTTQDIHLGV NESLTDTARV LSSMADAVLA RVYKQSDLDT
160 170 180 190 200
LAKEASIPII NGLSDLYHPI QILADYLTLQ EHYSSLKGLT LSWIGDGNNI
210 220 230 240 250
LHSIMMSAAK FGMHLQAATP KGYEPDASVT KLAEQYAKEN GTKLLLTNDP
260 270 280 290 300
LEAAHGGNVL ITDTWISMGQ EEEKKKRLQA FQGYQVTMKT AKVAASDWTF
310 320 330 340 350
LHCLPRKPEE VDDEVFYSPR SLVFPEAENR KWTIMAVMVS LLTDYSPQLQ

KPKF
Length:354
Mass (Da):39,935
Last modified:December 20, 2005 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iAE15B734F6E27A3B
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y829A0A2R8Y829_HUMAN
Ornithine carbamoyltransferase, mit...
OTC
130Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti193 – 194WI → CF in AAA59975 (PubMed:6372096).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00484326R → Q in OTCD. 1 PublicationCorresponds to variant dbSNP:rs68031618EnsemblClinVar.1
Natural variantiVAR_00484439G → C in OTCD; late onset. 1 PublicationCorresponds to variant dbSNP:rs72554306EnsemblClinVar.1
Natural variantiVAR_00484540R → C in OTCD; late onset. Corresponds to variant dbSNP:rs72554307EnsemblClinVar.1
Natural variantiVAR_00484640R → H in OTCD; late onset. 2 PublicationsCorresponds to variant dbSNP:rs72554308EnsemblClinVar.1
Natural variantiVAR_00484743L → F1 PublicationCorresponds to variant dbSNP:rs72554309EnsemblClinVar.1
Natural variantiVAR_00484844T → I in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72554310EnsemblClinVar.1
Natural variantiVAR_00484945L → P in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72554312EnsemblClinVar.1
Natural variantiVAR_00485045L → V in OTCD. Corresponds to variant dbSNP:rs72554311EnsemblClinVar.1
Natural variantiVAR_00485146K → R2 PublicationsCorresponds to variant dbSNP:rs1800321EnsemblClinVar.1
Natural variantiVAR_00485247N → I in OTCD; neonatal. Corresponds to variant dbSNP:rs67939655EnsemblClinVar.1
Natural variantiVAR_00485350G → R in OTCD; late onset. Corresponds to variant dbSNP:rs67486158EnsemblClinVar.1
Natural variantiVAR_00485455Y → D in OTCD; late onset. 1 PublicationCorresponds to variant dbSNP:rs72554319EnsemblClinVar.1
Natural variantiVAR_00485556M → T in OTCD; late onset. Corresponds to variant dbSNP:rs72554320EnsemblClinVar.1
Natural variantiVAR_00485660S → L in OTCD. Corresponds to variant dbSNP:rs72554323EnsemblClinVar.1
Natural variantiVAR_00485763L → P in OTCD; late onset. 1 PublicationCorresponds to variant dbSNP:rs72554324EnsemblClinVar.1
Natural variantiVAR_00485879G → E in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72554331EnsemblClinVar.1
Natural variantiVAR_00485982Missing in OTCD. 1
Natural variantiVAR_00486083G → D in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72554337EnsemblClinVar.1
Natural variantiVAR_00486183G → R in OTCD; neonatal. Corresponds to variant dbSNP:rs72554336EnsemblClinVar.1
Natural variantiVAR_00486287E → K in OTCD. Corresponds to variant dbSNP:rs72554338EnsemblClinVar.1
Natural variantiVAR_00486388K → N in OTCD; late onset. 2 PublicationsCorresponds to variant dbSNP:rs72554339EnsemblClinVar.1
Natural variantiVAR_00486490S → R in OTCD. Corresponds to variant dbSNP:rs72554342EnsemblClinVar.1
Natural variantiVAR_00486592R → Q in OTCD. 1 PublicationCorresponds to variant dbSNP:rs66550389EnsemblClinVar.1
Natural variantiVAR_00486693T → A in OTCD; late onset. Corresponds to variant dbSNP:rs72554344EnsemblClinVar.1
Natural variantiVAR_00486794R → T in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72554345EnsemblClinVar.1
Natural variantiVAR_004868100G → D in OTCD; late onset. 1 PublicationCorresponds to variant dbSNP:rs72554349EnsemblClinVar.1
Natural variantiVAR_004869101F → L2 PublicationsCorresponds to variant dbSNP:rs1133135Ensembl.1
Natural variantiVAR_004870102A → E in OTCD. Corresponds to variant dbSNP:rs72554350EnsemblClinVar.1
Natural variantiVAR_004871111L → P2 PublicationsCorresponds to variant dbSNP:rs1800324EnsemblClinVar.1
Natural variantiVAR_004872117H → L in OTCD. 1 PublicationCorresponds to variant dbSNP:rs66539573EnsemblClinVar.1
Natural variantiVAR_004873117H → R in OTCD; late onset. Corresponds to variant dbSNP:rs66539573EnsemblClinVar.1
Natural variantiVAR_004874125T → M in OTCD; neonatal. 1 PublicationCorresponds to variant dbSNP:rs72554356EnsemblClinVar.1
Natural variantiVAR_004875126D → G in OTCD; 0.9% of wild-type activity; early onset. 1 PublicationCorresponds to variant dbSNP:rs72554358EnsemblClinVar.1
Natural variantiVAR_004876129R → H in OTCD; 2.1% of wild-type activity; early onset. 2 PublicationsCorresponds to variant dbSNP:rs66656800EnsemblClinVar.1
Natural variantiVAR_004877139L → S in OTCD. Corresponds to variant dbSNP:rs72556259EnsemblClinVar.1
Natural variantiVAR_010605140A → P in OTCD; late onset. 1 PublicationCorresponds to variant dbSNP:rs72556260EnsemblClinVar.1
Natural variantiVAR_004878141R → P in OTCD. Corresponds to variant dbSNP:rs68026851EnsemblClinVar.1
Natural variantiVAR_004879141R → Q in OTCD; activity is 100-fold lower; most common point mutation. 3 PublicationsCorresponds to variant dbSNP:rs68026851EnsemblClinVar.1
Natural variantiVAR_004880148L → F in OTCD. Corresponds to variant dbSNP:rs66741318EnsemblClinVar.1
Natural variantiVAR_004881159I → T in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72556269EnsemblClinVar.1
Natural variantiVAR_012651160I → S in OTCD. 1 PublicationCorresponds to variant dbSNP:rs67954347EnsemblClinVar.1
Natural variantiVAR_004882161N → S in OTCD. Corresponds to variant dbSNP:rs72556271EnsemblClinVar.1
Natural variantiVAR_004883162G → R in OTCD. Corresponds to variant dbSNP:rs66626662EnsemblClinVar.1
Natural variantiVAR_004884168H → Q in OTCD; late onset. Corresponds to variant dbSNP:rs72556276EnsemblClinVar.1
Natural variantiVAR_004885168H → R in OTCD; late onset. Corresponds to variant dbSNP:rs66867430EnsemblClinVar.1
Natural variantiVAR_009233172I → F in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72556279EnsemblClinVar.1
Natural variantiVAR_004886172I → M in OTCD; no activity; early onset. 1 PublicationCorresponds to variant dbSNP:rs72556280EnsemblClinVar.1
Natural variantiVAR_004887174A → P in OTCD. Corresponds to variant dbSNP:rs72556281EnsemblClinVar.1
Natural variantiVAR_004888175D → V in OTCD. Corresponds to variant dbSNP:rs68033093EnsemblClinVar.1
Natural variantiVAR_004889176Y → C in OTCD; late onset. 1 PublicationCorresponds to variant dbSNP:rs72556283EnsemblClinVar.1
Natural variantiVAR_004891178 – 179Missing in OTCD; neonatal. 2
Natural variantiVAR_004890178T → M in OTCD; neonatal. Corresponds to variant dbSNP:rs72556284EnsemblClinVar.1
Natural variantiVAR_004892180Q → H in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72556287EnsemblClinVar.1
Natural variantiVAR_004893181E → G in OTCD; neonatal. Corresponds to variant dbSNP:rs72556290EnsemblClinVar.1
Natural variantiVAR_004894182H → L in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72556291EnsemblClinVar.1
Natural variantiVAR_004895183Y → C in OTCD. Corresponds to variant dbSNP:rs72556293EnsemblClinVar.1
Natural variantiVAR_004896183Y → D in OTCD; late onset. 1 PublicationCorresponds to variant dbSNP:rs72556292EnsemblClinVar.1
Natural variantiVAR_004897188G → R in OTCD; neonatal. 1 PublicationCorresponds to variant dbSNP:rs72556294EnsemblClinVar.1
Natural variantiVAR_009234188G → V in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72556295EnsemblClinVar.1
Natural variantiVAR_012652191L → F in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72556296EnsemblClinVar.1
Natural variantiVAR_004898192S → R in OTCD; neonatal. Corresponds to variant dbSNP:rs72556298EnsemblClinVar.1
Natural variantiVAR_004899195G → R in OTCD; no activity. 2 PublicationsCorresponds to variant dbSNP:rs67294955EnsemblClinVar.1
Natural variantiVAR_004900196D → V in OTCD; neonatal; 3.7% activity. 1 PublicationCorresponds to variant dbSNP:rs72556300EnsemblClinVar.1
Natural variantiVAR_004901196D → Y in OTCD; neonatal. Corresponds to variant dbSNP:rs66642398EnsemblClinVar.1
Natural variantiVAR_004902197G → E in OTCD. Corresponds to variant dbSNP:rs72556302EnsemblClinVar.1
Natural variantiVAR_009235197G → R in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72556301EnsemblClinVar.1
Natural variantiVAR_010606198N → K in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72558404EnsemblClinVar.1
Natural variantiVAR_004903201L → P in OTCD; neonatal. 1 PublicationCorresponds to variant dbSNP:rs72558407EnsemblClinVar.1
Natural variantiVAR_004904202H → Y in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72558408EnsemblClinVar.1
Natural variantiVAR_004905203S → C in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72558410EnsemblClinVar.1
Natural variantiVAR_012653206M → I in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72558413EnsemblClinVar.1
Natural variantiVAR_004906206M → R in OTCD; neonatal. Corresponds to variant dbSNP:rs72558412EnsemblClinVar.1
Natural variantiVAR_004907207S → R in OTCD; neonatal. 1 PublicationCorresponds to variant dbSNP:rs72558415EnsemblClinVar.1
Natural variantiVAR_004908208A → T in OTCD; late onset. Corresponds to variant dbSNP:rs72558416EnsemblClinVar.1
Natural variantiVAR_004909209A → V in OTCD; neonatal. 3 PublicationsCorresponds to variant dbSNP:rs72558417EnsemblClinVar.1
Natural variantiVAR_004910213M → K in OTCD; late onset. 1 Publication1
Natural variantiVAR_010607214H → Y in OTCD; neonatal. 1 PublicationCorresponds to variant dbSNP:rs72558420EnsemblClinVar.1
Natural variantiVAR_004911216Q → E in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72558423EnsemblClinVar.1
Natural variantiVAR_004912220P → A in OTCD; late onset. 1 PublicationCorresponds to variant dbSNP:rs72558425EnsemblClinVar.1
Natural variantiVAR_004913225P → L in OTCD. 1 PublicationCorresponds to variant dbSNP:rs67120076EnsemblClinVar.1
Natural variantiVAR_004914225P → R in OTCD; neonatal. Corresponds to variant dbSNP:rs67120076EnsemblClinVar.1
Natural variantiVAR_004915225P → T in OTCD; late onset. 1 PublicationCorresponds to variant dbSNP:rs72558428EnsemblClinVar.1
Natural variantiVAR_004916242T → I in OTCD; late onset. Corresponds to variant dbSNP:rs72558435EnsemblClinVar.1
Natural variantiVAR_004917244L → Q in OTCD; late onset. 1 PublicationCorresponds to variant dbSNP:rs72558436EnsemblClinVar.1
Natural variantiVAR_004918247T → K in OTCD; neonatal/late onset. Corresponds to variant dbSNP:rs72558437EnsemblClinVar.1
Natural variantiVAR_004919255H → P in OTCD. Corresponds to variant dbSNP:rs72558440EnsemblClinVar.1
Natural variantiVAR_010608262T → K in OTCD; mild. 1 PublicationCorresponds to variant dbSNP:rs67333670EnsemblClinVar.1
Natural variantiVAR_004920263D → G in OTCD. Corresponds to variant dbSNP:rs72558443EnsemblClinVar.1
Natural variantiVAR_004921263D → N in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72558442EnsemblClinVar.1
Natural variantiVAR_004922264T → A in OTCD; late onset; 8.9% activity. 2 PublicationsCorresponds to variant dbSNP:rs72558444EnsemblClinVar.1
Natural variantiVAR_004923264T → I in OTCD; late onset. 1 PublicationCorresponds to variant dbSNP:rs67156896EnsemblClinVar.1
Natural variantiVAR_010609265W → L in OTCD; mild. 1 PublicationCorresponds to variant dbSNP:rs72558446EnsemblClinVar.1
Natural variantiVAR_004924267S → R in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72558448EnsemblClinVar.1
Natural variantiVAR_004925268M → T in OTCD; late onset. Corresponds to variant dbSNP:rs72558449EnsemblClinVar.1
Natural variantiVAR_004926269G → E in OTCD; neonatal. 1 PublicationCorresponds to variant dbSNP:rs72558450EnsemblClinVar.1
Natural variantiVAR_004927270Q → R in about 5% of population. 3 PublicationsCorresponds to variant dbSNP:rs1800328EnsemblClinVar.1
Natural variantiVAR_004928272Missing in OTCD; late onset. 1 Publication1
Natural variantiVAR_004929277R → Q in OTCD; late onset. 2 PublicationsCorresponds to variant dbSNP:rs66724222EnsemblClinVar.1
Natural variantiVAR_004930277R → W in OTCD; late onset. 2 PublicationsCorresponds to variant dbSNP:rs72558454EnsemblClinVar.1
Natural variantiVAR_012654301L → F in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72558462EnsemblClinVar.1
Natural variantiVAR_004931302H → L in OTCD; female; late onset. 1 PublicationCorresponds to variant dbSNP:rs67993095EnsemblClinVar.1
Natural variantiVAR_004932302H → Q in OTCD; late onset. Corresponds to variant dbSNP:rs67870244EnsemblClinVar.1
Natural variantiVAR_004933302H → Y in OTCD; neonatal. 1 PublicationCorresponds to variant dbSNP:rs72558463EnsemblClinVar.1
Natural variantiVAR_004934303C → R in OTCD; neonatal. 1 PublicationCorresponds to variant dbSNP:rs67468335EnsemblClinVar.1
Natural variantiVAR_004935303C → Y in OTCD. Corresponds to variant dbSNP:rs72558464EnsemblClinVar.1
Natural variantiVAR_004936304L → F in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72558465EnsemblClinVar.1
Natural variantiVAR_012655305P → H in OTCD. 1 PublicationCorresponds to variant dbSNP:rs67501347EnsemblClinVar.1
Natural variantiVAR_004937309Missing in OTCD; late onset. 1 Publication1
Natural variantiVAR_004938320R → L in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72558474EnsemblClinVar.1
Natural variantiVAR_010610326E → K in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72558476EnsemblClinVar.1
Natural variantiVAR_004939330R → G in OTCD. Corresponds to variant dbSNP:rs72558478EnsemblClinVar.1
Natural variantiVAR_012656333T → A1 Publication1
Natural variantiVAR_004940336A → S in OTCD; late onset. Corresponds to variant dbSNP:rs72558486EnsemblClinVar.1
Natural variantiVAR_004941337V → L in OTCD; late onset. Corresponds to variant dbSNP:rs72558487EnsemblClinVar.1
Natural variantiVAR_004942339V → L in OTCD; neonatal. Corresponds to variant dbSNP:rs72558488EnsemblClinVar.1
Natural variantiVAR_004943340S → P in OTCD; late onset. 1 PublicationCorresponds to variant dbSNP:rs72558489EnsemblClinVar.1
Natural variantiVAR_012657341L → P in OTCD. 1 PublicationCorresponds to variant dbSNP:rs72558490EnsemblClinVar.1
Natural variantiVAR_004944343T → K in OTCD; late onset. 1 PublicationCorresponds to variant dbSNP:rs72558491EnsemblClinVar.1
Natural variantiVAR_004946345Y → C in OTCD; neonatal. Corresponds to variant dbSNP:rs72558492EnsemblClinVar.1
Natural variantiVAR_004947345Y → D in OTCD. 1 PublicationCorresponds to variant dbSNP:rs66469337EnsemblClinVar.1
Natural variantiVAR_004948354F → C in OTCD; late onset. Corresponds to variant dbSNP:rs72558495EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
K02100 mRNA Translation: AAA59975.1
D00230 Genomic DNA Translation: BAA00161.1
AK292757 mRNA Translation: BAF85446.1
AF241726 Genomic DNA No translation available.
AL606748 Genomic DNA No translation available.
AL607040 Genomic DNA No translation available.
CH471141 Genomic DNA Translation: EAW59439.1
CH471141 Genomic DNA Translation: EAW59440.1
BC074745 mRNA Translation: AAH74745.1
BC107153 mRNA Translation: AAI07154.1
BC107154 mRNA Translation: AAI07155.1
BC114496 mRNA Translation: AAI14497.1
M11235 Genomic DNA Translation: AAA59976.1
D00095 Genomic DNA Translation: BAA00058.1
X04443 Genomic DNA Translation: CAA28039.1
S73640 Genomic DNA Translation: AAB31859.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS14247.1

Protein sequence database of the Protein Information Resource

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PIRi
A41444 OWHU

NCBI Reference Sequences

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RefSeqi
NP_000522.3, NM_000531.5

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.117050

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000039007; ENSP00000039007; ENSG00000036473

Database of genes from NCBI RefSeq genomes

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GeneIDi
5009

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:5009

UCSC genome browser

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UCSCi
uc004def.5 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
K02100 mRNA Translation: AAA59975.1
D00230 Genomic DNA Translation: BAA00161.1
AK292757 mRNA Translation: BAF85446.1
AF241726 Genomic DNA No translation available.
AL606748 Genomic DNA No translation available.
AL607040 Genomic DNA No translation available.
CH471141 Genomic DNA Translation: EAW59439.1
CH471141 Genomic DNA Translation: EAW59440.1
BC074745 mRNA Translation: AAH74745.1
BC107153 mRNA Translation: AAI07154.1
BC107154 mRNA Translation: AAI07155.1
BC114496 mRNA Translation: AAI14497.1
M11235 Genomic DNA Translation: AAA59976.1
D00095 Genomic DNA Translation: BAA00058.1
X04443 Genomic DNA Translation: CAA28039.1
S73640 Genomic DNA Translation: AAB31859.1
CCDSiCCDS14247.1
PIRiA41444 OWHU
RefSeqiNP_000522.3, NM_000531.5
UniGeneiHs.117050

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1C9YX-ray1.90A34-354[»]
1EP9X-ray2.40A34-354[»]
1FVOX-ray2.60A/B34-354[»]
1OTHX-ray1.85A34-354[»]
ProteinModelPortaliP00480
SMRiP00480
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111050, 14 interactors
CORUMiP00480
STRINGi9606.ENSP00000039007

Chemistry databases

BindingDBiP00480
ChEMBLiCHEMBL2222
DrugBankiDB03519 2-Amino-Pentanoic Acid
DB00155 L-Citrulline
DB00129 L-Ornithine
DB02011 N-(Phosphonoacetyl)-L-Ornithine
DB04185 Norvaline

PTM databases

iPTMnetiP00480
PhosphoSitePlusiP00480

Polymorphism and mutation databases

BioMutaiOTC
DMDMi84028235

2D gel databases

REPRODUCTION-2DPAGEiP00480

Proteomic databases

jPOSTiP00480
MaxQBiP00480
PaxDbiP00480
PeptideAtlasiP00480
PRIDEiP00480
ProteomicsDBi51254

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000039007; ENSP00000039007; ENSG00000036473
GeneIDi5009
KEGGihsa:5009
UCSCiuc004def.5 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
5009
DisGeNETi5009
EuPathDBiHostDB:ENSG00000036473.6

GeneCards: human genes, protein and diseases

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GeneCardsi
OTC
GeneReviewsiOTC
HGNCiHGNC:8512 OTC
HPAiHPA000243
HPA000570
MalaCardsiOTC
MIMi300461 gene
311250 phenotype
neXtProtiNX_P00480
OpenTargetsiENSG00000036473
Orphaneti664 Ornithine transcarbamylase deficiency
PharmGKBiPA32840

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1504 Eukaryota
COG0078 LUCA
GeneTreeiENSGT00510000047417
HOGENOMiHOG000022686
HOVERGENiHBG007881
InParanoidiP00480
KOiK00611
OMAiDGNNVCN
OrthoDBi1404554at2759
PhylomeDBiP00480
TreeFamiTF352580

Enzyme and pathway databases

UniPathwayi
UPA00158;UER00271

BioCyciMetaCyc:HS00516-MONOMER
BRENDAi2.1.3.3 2681
ReactomeiR-HSA-1268020 Mitochondrial protein import
R-HSA-70635 Urea cycle
SABIO-RKiP00480
SIGNORiP00480

Miscellaneous databases

EvolutionaryTraceiP00480

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Ornithine_transcarbamylase

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
5009
PMAP-CutDBiP00480

Protein Ontology

More...
PROi
PR:P00480

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000036473 Expressed in 77 organ(s), highest expression level in right lobe of liver
CleanExiHS_OTC
GenevisibleiP00480 HS

Family and domain databases

Gene3Di3.40.50.1370, 2 hits
InterProiView protein in InterPro
IPR006132 Asp/Orn_carbamoyltranf_P-bd
IPR006130 Asp/Orn_carbamoylTrfase
IPR036901 Asp/Orn_carbamoylTrfase_sf
IPR006131 Asp_carbamoyltransf_Asp/Orn-bd
IPR002292 Orn/put_carbamltrans
PfamiView protein in Pfam
PF00185 OTCace, 1 hit
PF02729 OTCace_N, 1 hit
PRINTSiPR00100 AOTCASE
PR00102 OTCASE
SUPFAMiSSF53671 SSF53671, 1 hit
TIGRFAMsiTIGR00658 orni_carb_tr, 1 hit
PROSITEiView protein in PROSITE
PS00097 CARBAMOYLTRANSFERASE, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiOTC_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P00480
Secondary accession number(s): A8K9P2
, D3DWB0, Q3KNR1, Q6B0I1, Q9NYJ5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: December 20, 2005
Last modified: January 16, 2019
This is version 220 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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