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Protein

Ornithine carbamoyltransferase, mitochondrial

Gene

OTC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalytic activityi

Carbamoyl phosphate + L-ornithine = phosphate + L-citrulline.

Enzyme regulationi

Negatively regulated by lysine acetylation.1 Publication

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
Binding sitei141Carbamoyl phosphate1
Binding sitei141Ornithine1
Binding sitei199Ornithine1
Active sitei303By similarity1
Binding sitei330Carbamoyl phosphate1
Binding sitei330Ornithine1

GO - Molecular functioni

GO - Biological processi

  • ammonia homeostasis Source: BHF-UCL
  • anion homeostasis Source: Ensembl
  • arginine biosynthetic process via ornithine Source: GO_Central
  • citrulline biosynthetic process Source: BHF-UCL
  • liver development Source: Ensembl
  • midgut development Source: Ensembl
  • ornithine catabolic process Source: BHF-UCL
  • protein homotrimerization Source: Ensembl
  • response to biotin Source: Ensembl
  • response to drug Source: Ensembl
  • response to insulin Source: Ensembl
  • response to zinc ion Source: Ensembl
  • urea cycle Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Transferase

Keywords - Biological processi

Amino-acid biosynthesis, Arginine biosynthesis, Urea cycle

Enzyme and pathway databases

BioCyciMetaCyc:HS00516-MONOMER.
ZFISH:HS00516-MONOMER.
BRENDAi2.1.3.3. 2681.
ReactomeiR-HSA-70635. Urea cycle.
SABIO-RKP00480.
UniPathwayiUPA00158; UER00271.

Names & Taxonomyi

Protein namesi
Recommended name:
Ornithine carbamoyltransferase, mitochondrial (EC:2.1.3.3)
Alternative name(s):
Ornithine transcarbamylase
Short name:
OTCase
Gene namesi
Name:OTC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:8512. OTC.

Subcellular locationi

GO - Cellular componenti

  • mitochondrial inner membrane Source: Ensembl
  • mitochondrial matrix Source: UniProtKB
  • mitochondrion Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Ornithine carbamoyltransferase deficiency (OTCD)29 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
Natural variantiVAR_00484326R → Q in OTCD. 1 PublicationCorresponds to variant rs68031618dbSNPEnsembl.1
Natural variantiVAR_00484439G → C in OTCD; late onset. 1 PublicationCorresponds to variant rs72554306dbSNPEnsembl.1
Natural variantiVAR_00484540R → C in OTCD; late onset. Corresponds to variant rs72554307dbSNPEnsembl.1
Natural variantiVAR_00484640R → H in OTCD; late onset. 2 PublicationsCorresponds to variant rs72554308dbSNPEnsembl.1
Natural variantiVAR_00484844T → I in OTCD. 1 PublicationCorresponds to variant rs72554310dbSNPEnsembl.1
Natural variantiVAR_00484945L → P in OTCD. 1 PublicationCorresponds to variant rs72554312dbSNPEnsembl.1
Natural variantiVAR_00485045L → V in OTCD. Corresponds to variant rs72554311dbSNPEnsembl.1
Natural variantiVAR_00485247N → I in OTCD; neonatal. Corresponds to variant rs67939655dbSNPEnsembl.1
Natural variantiVAR_00485350G → R in OTCD; late onset. Corresponds to variant rs67486158dbSNPEnsembl.1
Natural variantiVAR_00485455Y → D in OTCD; late onset. 1 PublicationCorresponds to variant rs72554319dbSNPEnsembl.1
Natural variantiVAR_00485556M → T in OTCD; late onset. Corresponds to variant rs72554320dbSNPEnsembl.1
Natural variantiVAR_00485660S → L in OTCD. Corresponds to variant rs72554323dbSNPEnsembl.1
Natural variantiVAR_00485763L → P in OTCD; late onset. 1 PublicationCorresponds to variant rs72554324dbSNPEnsembl.1
Natural variantiVAR_00485879G → E in OTCD. 1 PublicationCorresponds to variant rs72554331dbSNPEnsembl.1
Natural variantiVAR_00485982Missing in OTCD. 1
Natural variantiVAR_00486083G → D in OTCD. 1 PublicationCorresponds to variant rs72554337dbSNPEnsembl.1
Natural variantiVAR_00486183G → R in OTCD; neonatal. Corresponds to variant rs72554336dbSNPEnsembl.1
Natural variantiVAR_00486287E → K in OTCD. Corresponds to variant rs72554338dbSNPEnsembl.1
Natural variantiVAR_00486388K → N in OTCD; late onset. 2 PublicationsCorresponds to variant rs72554339dbSNPEnsembl.1
Natural variantiVAR_00486490S → R in OTCD. Corresponds to variant rs72554342dbSNPEnsembl.1
Natural variantiVAR_00486592R → Q in OTCD. 1 PublicationCorresponds to variant rs66550389dbSNPEnsembl.1
Natural variantiVAR_00486693T → A in OTCD; late onset. Corresponds to variant rs72554344dbSNPEnsembl.1
Natural variantiVAR_00486794R → T in OTCD. 1 PublicationCorresponds to variant rs72554345dbSNPEnsembl.1
Natural variantiVAR_004868100G → D in OTCD; late onset. 1 PublicationCorresponds to variant rs72554349dbSNPEnsembl.1
Natural variantiVAR_004870102A → E in OTCD. Corresponds to variant rs72554350dbSNPEnsembl.1
Natural variantiVAR_004872117H → L in OTCD. 1 PublicationCorresponds to variant rs66539573dbSNPEnsembl.1
Natural variantiVAR_004873117H → R in OTCD; late onset. Corresponds to variant rs66539573dbSNPEnsembl.1
Natural variantiVAR_004874125T → M in OTCD; neonatal. 1 PublicationCorresponds to variant rs72554356dbSNPEnsembl.1
Natural variantiVAR_004875126D → G in OTCD; 0.9% of wild-type activity; early onset. 1 PublicationCorresponds to variant rs72554358dbSNPEnsembl.1
Natural variantiVAR_004876129R → H in OTCD; 2.1% of wild-type activity; early onset. 2 PublicationsCorresponds to variant rs66656800dbSNPEnsembl.1
Natural variantiVAR_004877139L → S in OTCD. Corresponds to variant rs72556259dbSNPEnsembl.1
Natural variantiVAR_010605140A → P in OTCD; late onset. 1 PublicationCorresponds to variant rs72556260dbSNPEnsembl.1
Natural variantiVAR_004878141R → P in OTCD. Corresponds to variant rs68026851dbSNPEnsembl.1
Natural variantiVAR_004879141R → Q in OTCD; activity is 100-fold lower; most common point mutation. 3 PublicationsCorresponds to variant rs68026851dbSNPEnsembl.1
Natural variantiVAR_004880148L → F in OTCD. Corresponds to variant rs66741318dbSNPEnsembl.1
Natural variantiVAR_004881159I → T in OTCD. 1 PublicationCorresponds to variant rs72556269dbSNPEnsembl.1
Natural variantiVAR_012651160I → S in OTCD. 1 PublicationCorresponds to variant rs67954347dbSNPEnsembl.1
Natural variantiVAR_004882161N → S in OTCD. Corresponds to variant rs72556271dbSNPEnsembl.1
Natural variantiVAR_004883162G → R in OTCD. Corresponds to variant rs66626662dbSNPEnsembl.1
Natural variantiVAR_004884168H → Q in OTCD; late onset. Corresponds to variant rs72556276dbSNPEnsembl.1
Natural variantiVAR_004885168H → R in OTCD; late onset. Corresponds to variant rs66867430dbSNPEnsembl.1
Natural variantiVAR_009233172I → F in OTCD. 1 PublicationCorresponds to variant rs72556279dbSNPEnsembl.1
Natural variantiVAR_004886172I → M in OTCD; no activity; early onset. 1 PublicationCorresponds to variant rs72556280dbSNPEnsembl.1
Natural variantiVAR_004887174A → P in OTCD. Corresponds to variant rs72556281dbSNPEnsembl.1
Natural variantiVAR_004888175D → V in OTCD. Corresponds to variant rs68033093dbSNPEnsembl.1
Natural variantiVAR_004889176Y → C in OTCD; late onset. 1 PublicationCorresponds to variant rs72556283dbSNPEnsembl.1
Natural variantiVAR_004891178 – 179Missing in OTCD; neonatal. 2
Natural variantiVAR_004890178T → M in OTCD; neonatal. Corresponds to variant rs72556284dbSNPEnsembl.1
Natural variantiVAR_004892180Q → H in OTCD. 1 PublicationCorresponds to variant rs72556287dbSNPEnsembl.1
Natural variantiVAR_004893181E → G in OTCD; neonatal. Corresponds to variant rs72556290dbSNPEnsembl.1
Natural variantiVAR_004894182H → L in OTCD. 1 PublicationCorresponds to variant rs72556291dbSNPEnsembl.1
Natural variantiVAR_004895183Y → C in OTCD. Corresponds to variant rs72556293dbSNPEnsembl.1
Natural variantiVAR_004896183Y → D in OTCD; late onset. 1 PublicationCorresponds to variant rs72556292dbSNPEnsembl.1
Natural variantiVAR_004897188G → R in OTCD; neonatal. 1 PublicationCorresponds to variant rs72556294dbSNPEnsembl.1
Natural variantiVAR_009234188G → V in OTCD. 1 PublicationCorresponds to variant rs72556295dbSNPEnsembl.1
Natural variantiVAR_012652191L → F in OTCD. 1 PublicationCorresponds to variant rs72556296dbSNPEnsembl.1
Natural variantiVAR_004898192S → R in OTCD; neonatal. Corresponds to variant rs72556298dbSNPEnsembl.1
Natural variantiVAR_004899195G → R in OTCD; no activity. 2 PublicationsCorresponds to variant rs67294955dbSNPEnsembl.1
Natural variantiVAR_004900196D → V in OTCD; neonatal; 3.7% activity. 1 PublicationCorresponds to variant rs72556300dbSNPEnsembl.1
Natural variantiVAR_004901196D → Y in OTCD; neonatal. Corresponds to variant rs66642398dbSNPEnsembl.1
Natural variantiVAR_004902197G → E in OTCD. Corresponds to variant rs72556302dbSNPEnsembl.1
Natural variantiVAR_009235197G → R in OTCD. 1 PublicationCorresponds to variant rs72556301dbSNPEnsembl.1
Natural variantiVAR_010606198N → K in OTCD. 1 PublicationCorresponds to variant rs72558404dbSNPEnsembl.1
Natural variantiVAR_004903201L → P in OTCD; neonatal. 1 PublicationCorresponds to variant rs72558407dbSNPEnsembl.1
Natural variantiVAR_004904202H → Y in OTCD. 1 PublicationCorresponds to variant rs72558408dbSNPEnsembl.1
Natural variantiVAR_004905203S → C in OTCD. 1 PublicationCorresponds to variant rs72558410dbSNPEnsembl.1
Natural variantiVAR_012653206M → I in OTCD. 1 PublicationCorresponds to variant rs72558413dbSNPEnsembl.1
Natural variantiVAR_004906206M → R in OTCD; neonatal. Corresponds to variant rs72558412dbSNPEnsembl.1
Natural variantiVAR_004907207S → R in OTCD; neonatal. 1 PublicationCorresponds to variant rs72558415dbSNPEnsembl.1
Natural variantiVAR_004908208A → T in OTCD; late onset. Corresponds to variant rs72558416dbSNPEnsembl.1
Natural variantiVAR_004909209A → V in OTCD; neonatal. 3 PublicationsCorresponds to variant rs72558417dbSNPEnsembl.1
Natural variantiVAR_004910213M → K in OTCD; late onset. 1 Publication1
Natural variantiVAR_010607214H → Y in OTCD; neonatal. 1 PublicationCorresponds to variant rs72558420dbSNPEnsembl.1
Natural variantiVAR_004911216Q → E in OTCD. 1 PublicationCorresponds to variant rs72558423dbSNPEnsembl.1
Natural variantiVAR_004912220P → A in OTCD; late onset. 1 PublicationCorresponds to variant rs72558425dbSNPEnsembl.1
Natural variantiVAR_004913225P → L in OTCD. 1 PublicationCorresponds to variant rs67120076dbSNPEnsembl.1
Natural variantiVAR_004914225P → R in OTCD; neonatal. Corresponds to variant rs67120076dbSNPEnsembl.1
Natural variantiVAR_004915225P → T in OTCD; late onset. 1 PublicationCorresponds to variant rs72558428dbSNPEnsembl.1
Natural variantiVAR_004916242T → I in OTCD; late onset. Corresponds to variant rs72558435dbSNPEnsembl.1
Natural variantiVAR_004917244L → Q in OTCD; late onset. 1 PublicationCorresponds to variant rs72558436dbSNPEnsembl.1
Natural variantiVAR_004918247T → K in OTCD; neonatal/late onset. Corresponds to variant rs72558437dbSNPEnsembl.1
Natural variantiVAR_004919255H → P in OTCD. Corresponds to variant rs72558440dbSNPEnsembl.1
Natural variantiVAR_010608262T → K in OTCD; mild. 1 PublicationCorresponds to variant rs67333670dbSNPEnsembl.1
Natural variantiVAR_004920263D → G in OTCD. Corresponds to variant rs72558443dbSNPEnsembl.1
Natural variantiVAR_004921263D → N in OTCD. 1 PublicationCorresponds to variant rs72558442dbSNPEnsembl.1
Natural variantiVAR_004922264T → A in OTCD; late onset; 8.9% activity. 2 PublicationsCorresponds to variant rs72558444dbSNPEnsembl.1
Natural variantiVAR_004923264T → I in OTCD; late onset. 1 PublicationCorresponds to variant rs67156896dbSNPEnsembl.1
Natural variantiVAR_010609265W → L in OTCD; mild. 1 PublicationCorresponds to variant rs72558446dbSNPEnsembl.1
Natural variantiVAR_004924267S → R in OTCD. 1 PublicationCorresponds to variant rs72558448dbSNPEnsembl.1
Natural variantiVAR_004925268M → T in OTCD; late onset. Corresponds to variant rs72558449dbSNPEnsembl.1
Natural variantiVAR_004926269G → E in OTCD; neonatal. 1 PublicationCorresponds to variant rs72558450dbSNPEnsembl.1
Natural variantiVAR_004928272Missing in OTCD; late onset. 1 Publication1
Natural variantiVAR_004929277R → Q in OTCD; late onset. 2 PublicationsCorresponds to variant rs66724222dbSNPEnsembl.1
Natural variantiVAR_004930277R → W in OTCD; late onset. 2 PublicationsCorresponds to variant rs72558454dbSNPEnsembl.1
Natural variantiVAR_012654301L → F in OTCD. 1 PublicationCorresponds to variant rs72558462dbSNPEnsembl.1
Natural variantiVAR_004931302H → L in OTCD; female; late onset. 1 PublicationCorresponds to variant rs67993095dbSNPEnsembl.1
Natural variantiVAR_004932302H → Q in OTCD; late onset. Corresponds to variant rs67870244dbSNPEnsembl.1
Natural variantiVAR_004933302H → Y in OTCD; neonatal. 1 PublicationCorresponds to variant rs72558463dbSNPEnsembl.1
Natural variantiVAR_004934303C → R in OTCD; neonatal. 1 PublicationCorresponds to variant rs67468335dbSNPEnsembl.1
Natural variantiVAR_004935303C → Y in OTCD. Corresponds to variant rs72558464dbSNPEnsembl.1
Natural variantiVAR_004936304L → F in OTCD. 1 PublicationCorresponds to variant rs72558465dbSNPEnsembl.1
Natural variantiVAR_012655305P → H in OTCD. 1 PublicationCorresponds to variant rs67501347dbSNPEnsembl.1
Natural variantiVAR_004937309Missing in OTCD; late onset. 1 Publication1
Natural variantiVAR_004938320R → L in OTCD. 1 PublicationCorresponds to variant rs72558474dbSNPEnsembl.1
Natural variantiVAR_010610326E → K in OTCD. 1 PublicationCorresponds to variant rs72558476dbSNPEnsembl.1
Natural variantiVAR_004939330R → G in OTCD. Corresponds to variant rs72558478dbSNPEnsembl.1
Natural variantiVAR_004940336A → S in OTCD; late onset. Corresponds to variant rs72558486dbSNPEnsembl.1
Natural variantiVAR_004941337V → L in OTCD; late onset. Corresponds to variant rs72558487dbSNPEnsembl.1
Natural variantiVAR_004942339V → L in OTCD; neonatal. Corresponds to variant rs72558488dbSNPEnsembl.1
Natural variantiVAR_004943340S → P in OTCD; late onset. 1 PublicationCorresponds to variant rs72558489dbSNPEnsembl.1
Natural variantiVAR_012657341L → P in OTCD. 1 PublicationCorresponds to variant rs72558490dbSNPEnsembl.1
Natural variantiVAR_004944343T → K in OTCD; late onset. 1 PublicationCorresponds to variant rs72558491dbSNPEnsembl.1
Natural variantiVAR_004946345Y → C in OTCD; neonatal. Corresponds to variant rs72558492dbSNPEnsembl.1
Natural variantiVAR_004947345Y → D in OTCD. 1 PublicationCorresponds to variant rs66469337dbSNPEnsembl.1
Natural variantiVAR_004948354F → C in OTCD; late onset. Corresponds to variant rs72558495dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi5009.
MalaCardsiOTC.
MIMi311250. phenotype.
OpenTargetsiENSG00000036473.
Orphaneti664. Ornithine transcarbamylase deficiency.
PharmGKBiPA32840.

Chemistry databases

ChEMBLiCHEMBL2222.
DrugBankiDB00155. L-Citrulline.
DB00129. L-Ornithine.

Polymorphism and mutation databases

BioMutaiOTC.
DMDMi84028235.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 32MitochondrionAdd BLAST32
ChainiPRO_000002033433 – 354Ornithine carbamoyltransferase, mitochondrialAdd BLAST322

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

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

EPDiP00480.
MaxQBiP00480.
PaxDbiP00480.
PeptideAtlasiP00480.
PRIDEiP00480.

2D gel databases

REPRODUCTION-2DPAGEP00480.

PTM databases

iPTMnetiP00480.
PhosphoSitePlusiP00480.

Miscellaneous databases

PMAP-CutDBP00480.

Expressioni

Tissue specificityi

Mainly expressed in liver and intestinal mucosa.

Gene expression databases

BgeeiENSG00000036473.
CleanExiHS_OTC.
GenevisibleiP00480. HS.

Organism-specific databases

HPAiHPA000243.
HPA000570.

Interactioni

Subunit structurei

Homotrimer.2 Publications

Protein-protein interaction databases

BioGridi111050. 12 interactors.
STRINGi9606.ENSP00000039007.

Chemistry databases

BindingDBiP00480.

Structurei

Secondary structure

1354
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi45 – 47Combined sources3
Helixi50 – 68Combined sources19
Turni76 – 79Combined sources4
Beta strandi81 – 88Combined sources8
Helixi92 – 103Combined sources12
Beta strandi107 – 112Combined sources6
Turni113 – 115Combined sources3
Turni119 – 121Combined sources3
Helixi124 – 134Combined sources11
Beta strandi136 – 141Combined sources6
Helixi145 – 154Combined sources10
Beta strandi159 – 162Combined sources4
Helixi169 – 183Combined sources15
Beta strandi190 – 195Combined sources6
Helixi199 – 205Combined sources7
Turni206 – 208Combined sources3
Helixi209 – 211Combined sources3
Beta strandi214 – 218Combined sources5
Helixi227 – 240Combined sources14
Beta strandi244 – 248Combined sources5
Helixi250 – 254Combined sources5
Beta strandi258 – 262Combined sources5
Helixi271 – 273Combined sources3
Helixi274 – 280Combined sources7
Turni281 – 283Combined sources3
Helixi288 – 292Combined sources5
Beta strandi299 – 302Combined sources4
Turni308 – 310Combined sources3
Helixi313 – 316Combined sources4
Helixi323 – 342Combined sources20

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...

Miscellaneous databases

EvolutionaryTraceiP00480.

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni90 – 94Ornithine and carbamoyl phosphate binding5
Regioni168 – 171Ornithine and carbamoyl phosphate binding4
Regioni263 – 267Ornithine binding5
Regioni302 – 305Ornithine bindingBy similarity4

Sequence similaritiesi

Belongs to the ATCase/OTCase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG1504. Eukaryota.
COG0078. LUCA.
GeneTreeiENSGT00510000047417.
HOGENOMiHOG000022686.
HOVERGENiHBG007881.
InParanoidiP00480.
KOiK00611.
OMAiEHPCQIL.
OrthoDBiEOG091G0QB1.
PhylomeDBiP00480.
TreeFamiTF352580.

Family and domain databases

Gene3Di3.40.50.1370. 2 hits.
InterProiIPR006132. Asp/Orn_carbamoyltranf_P-bd.
IPR006130. Asp/Orn_carbamoylTrfase.
IPR006131. Asp_carbamoyltransf_Asp/Orn-bd.
IPR002292. Orn/put_carbamltrans.
[Graphical view]
PfamiPF00185. OTCace. 1 hit.
PF02729. OTCace_N. 1 hit.
[Graphical view]
PRINTSiPR00100. AOTCASE.
PR00102. OTCASE.
SUPFAMiSSF53671. SSF53671. 1 hit.
TIGRFAMsiTIGR00658. orni_carb_tr. 1 hit.
PROSITEiPS00097. CARBAMOYLTRANSFERASE. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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
Checksum:iAE15B734F6E27A3B
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 rs68031618dbSNPEnsembl.1
Natural variantiVAR_00484439G → C in OTCD; late onset. 1 PublicationCorresponds to variant rs72554306dbSNPEnsembl.1
Natural variantiVAR_00484540R → C in OTCD; late onset. Corresponds to variant rs72554307dbSNPEnsembl.1
Natural variantiVAR_00484640R → H in OTCD; late onset. 2 PublicationsCorresponds to variant rs72554308dbSNPEnsembl.1
Natural variantiVAR_00484743L → F.1 PublicationCorresponds to variant rs72554309dbSNPEnsembl.1
Natural variantiVAR_00484844T → I in OTCD. 1 PublicationCorresponds to variant rs72554310dbSNPEnsembl.1
Natural variantiVAR_00484945L → P in OTCD. 1 PublicationCorresponds to variant rs72554312dbSNPEnsembl.1
Natural variantiVAR_00485045L → V in OTCD. Corresponds to variant rs72554311dbSNPEnsembl.1
Natural variantiVAR_00485146K → R.2 PublicationsCorresponds to variant rs1800321dbSNPEnsembl.1
Natural variantiVAR_00485247N → I in OTCD; neonatal. Corresponds to variant rs67939655dbSNPEnsembl.1
Natural variantiVAR_00485350G → R in OTCD; late onset. Corresponds to variant rs67486158dbSNPEnsembl.1
Natural variantiVAR_00485455Y → D in OTCD; late onset. 1 PublicationCorresponds to variant rs72554319dbSNPEnsembl.1
Natural variantiVAR_00485556M → T in OTCD; late onset. Corresponds to variant rs72554320dbSNPEnsembl.1
Natural variantiVAR_00485660S → L in OTCD. Corresponds to variant rs72554323dbSNPEnsembl.1
Natural variantiVAR_00485763L → P in OTCD; late onset. 1 PublicationCorresponds to variant rs72554324dbSNPEnsembl.1
Natural variantiVAR_00485879G → E in OTCD. 1 PublicationCorresponds to variant rs72554331dbSNPEnsembl.1
Natural variantiVAR_00485982Missing in OTCD. 1
Natural variantiVAR_00486083G → D in OTCD. 1 PublicationCorresponds to variant rs72554337dbSNPEnsembl.1
Natural variantiVAR_00486183G → R in OTCD; neonatal. Corresponds to variant rs72554336dbSNPEnsembl.1
Natural variantiVAR_00486287E → K in OTCD. Corresponds to variant rs72554338dbSNPEnsembl.1
Natural variantiVAR_00486388K → N in OTCD; late onset. 2 PublicationsCorresponds to variant rs72554339dbSNPEnsembl.1
Natural variantiVAR_00486490S → R in OTCD. Corresponds to variant rs72554342dbSNPEnsembl.1
Natural variantiVAR_00486592R → Q in OTCD. 1 PublicationCorresponds to variant rs66550389dbSNPEnsembl.1
Natural variantiVAR_00486693T → A in OTCD; late onset. Corresponds to variant rs72554344dbSNPEnsembl.1
Natural variantiVAR_00486794R → T in OTCD. 1 PublicationCorresponds to variant rs72554345dbSNPEnsembl.1
Natural variantiVAR_004868100G → D in OTCD; late onset. 1 PublicationCorresponds to variant rs72554349dbSNPEnsembl.1
Natural variantiVAR_004869101F → L.2 PublicationsCorresponds to variant rs1133135dbSNPEnsembl.1
Natural variantiVAR_004870102A → E in OTCD. Corresponds to variant rs72554350dbSNPEnsembl.1
Natural variantiVAR_004871111L → P.2 PublicationsCorresponds to variant rs1800324dbSNPEnsembl.1
Natural variantiVAR_004872117H → L in OTCD. 1 PublicationCorresponds to variant rs66539573dbSNPEnsembl.1
Natural variantiVAR_004873117H → R in OTCD; late onset. Corresponds to variant rs66539573dbSNPEnsembl.1
Natural variantiVAR_004874125T → M in OTCD; neonatal. 1 PublicationCorresponds to variant rs72554356dbSNPEnsembl.1
Natural variantiVAR_004875126D → G in OTCD; 0.9% of wild-type activity; early onset. 1 PublicationCorresponds to variant rs72554358dbSNPEnsembl.1
Natural variantiVAR_004876129R → H in OTCD; 2.1% of wild-type activity; early onset. 2 PublicationsCorresponds to variant rs66656800dbSNPEnsembl.1
Natural variantiVAR_004877139L → S in OTCD. Corresponds to variant rs72556259dbSNPEnsembl.1
Natural variantiVAR_010605140A → P in OTCD; late onset. 1 PublicationCorresponds to variant rs72556260dbSNPEnsembl.1
Natural variantiVAR_004878141R → P in OTCD. Corresponds to variant rs68026851dbSNPEnsembl.1
Natural variantiVAR_004879141R → Q in OTCD; activity is 100-fold lower; most common point mutation. 3 PublicationsCorresponds to variant rs68026851dbSNPEnsembl.1
Natural variantiVAR_004880148L → F in OTCD. Corresponds to variant rs66741318dbSNPEnsembl.1
Natural variantiVAR_004881159I → T in OTCD. 1 PublicationCorresponds to variant rs72556269dbSNPEnsembl.1
Natural variantiVAR_012651160I → S in OTCD. 1 PublicationCorresponds to variant rs67954347dbSNPEnsembl.1
Natural variantiVAR_004882161N → S in OTCD. Corresponds to variant rs72556271dbSNPEnsembl.1
Natural variantiVAR_004883162G → R in OTCD. Corresponds to variant rs66626662dbSNPEnsembl.1
Natural variantiVAR_004884168H → Q in OTCD; late onset. Corresponds to variant rs72556276dbSNPEnsembl.1
Natural variantiVAR_004885168H → R in OTCD; late onset. Corresponds to variant rs66867430dbSNPEnsembl.1
Natural variantiVAR_009233172I → F in OTCD. 1 PublicationCorresponds to variant rs72556279dbSNPEnsembl.1
Natural variantiVAR_004886172I → M in OTCD; no activity; early onset. 1 PublicationCorresponds to variant rs72556280dbSNPEnsembl.1
Natural variantiVAR_004887174A → P in OTCD. Corresponds to variant rs72556281dbSNPEnsembl.1
Natural variantiVAR_004888175D → V in OTCD. Corresponds to variant rs68033093dbSNPEnsembl.1
Natural variantiVAR_004889176Y → C in OTCD; late onset. 1 PublicationCorresponds to variant rs72556283dbSNPEnsembl.1
Natural variantiVAR_004891178 – 179Missing in OTCD; neonatal. 2
Natural variantiVAR_004890178T → M in OTCD; neonatal. Corresponds to variant rs72556284dbSNPEnsembl.1
Natural variantiVAR_004892180Q → H in OTCD. 1 PublicationCorresponds to variant rs72556287dbSNPEnsembl.1
Natural variantiVAR_004893181E → G in OTCD; neonatal. Corresponds to variant rs72556290dbSNPEnsembl.1
Natural variantiVAR_004894182H → L in OTCD. 1 PublicationCorresponds to variant rs72556291dbSNPEnsembl.1
Natural variantiVAR_004895183Y → C in OTCD. Corresponds to variant rs72556293dbSNPEnsembl.1
Natural variantiVAR_004896183Y → D in OTCD; late onset. 1 PublicationCorresponds to variant rs72556292dbSNPEnsembl.1
Natural variantiVAR_004897188G → R in OTCD; neonatal. 1 PublicationCorresponds to variant rs72556294dbSNPEnsembl.1
Natural variantiVAR_009234188G → V in OTCD. 1 PublicationCorresponds to variant rs72556295dbSNPEnsembl.1
Natural variantiVAR_012652191L → F in OTCD. 1 PublicationCorresponds to variant rs72556296dbSNPEnsembl.1
Natural variantiVAR_004898192S → R in OTCD; neonatal. Corresponds to variant rs72556298dbSNPEnsembl.1
Natural variantiVAR_004899195G → R in OTCD; no activity. 2 PublicationsCorresponds to variant rs67294955dbSNPEnsembl.1
Natural variantiVAR_004900196D → V in OTCD; neonatal; 3.7% activity. 1 PublicationCorresponds to variant rs72556300dbSNPEnsembl.1
Natural variantiVAR_004901196D → Y in OTCD; neonatal. Corresponds to variant rs66642398dbSNPEnsembl.1
Natural variantiVAR_004902197G → E in OTCD. Corresponds to variant rs72556302dbSNPEnsembl.1
Natural variantiVAR_009235197G → R in OTCD. 1 PublicationCorresponds to variant rs72556301dbSNPEnsembl.1
Natural variantiVAR_010606198N → K in OTCD. 1 PublicationCorresponds to variant rs72558404dbSNPEnsembl.1
Natural variantiVAR_004903201L → P in OTCD; neonatal. 1 PublicationCorresponds to variant rs72558407dbSNPEnsembl.1
Natural variantiVAR_004904202H → Y in OTCD. 1 PublicationCorresponds to variant rs72558408dbSNPEnsembl.1
Natural variantiVAR_004905203S → C in OTCD. 1 PublicationCorresponds to variant rs72558410dbSNPEnsembl.1
Natural variantiVAR_012653206M → I in OTCD. 1 PublicationCorresponds to variant rs72558413dbSNPEnsembl.1
Natural variantiVAR_004906206M → R in OTCD; neonatal. Corresponds to variant rs72558412dbSNPEnsembl.1
Natural variantiVAR_004907207S → R in OTCD; neonatal. 1 PublicationCorresponds to variant rs72558415dbSNPEnsembl.1
Natural variantiVAR_004908208A → T in OTCD; late onset. Corresponds to variant rs72558416dbSNPEnsembl.1
Natural variantiVAR_004909209A → V in OTCD; neonatal. 3 PublicationsCorresponds to variant rs72558417dbSNPEnsembl.1
Natural variantiVAR_004910213M → K in OTCD; late onset. 1 Publication1
Natural variantiVAR_010607214H → Y in OTCD; neonatal. 1 PublicationCorresponds to variant rs72558420dbSNPEnsembl.1
Natural variantiVAR_004911216Q → E in OTCD. 1 PublicationCorresponds to variant rs72558423dbSNPEnsembl.1
Natural variantiVAR_004912220P → A in OTCD; late onset. 1 PublicationCorresponds to variant rs72558425dbSNPEnsembl.1
Natural variantiVAR_004913225P → L in OTCD. 1 PublicationCorresponds to variant rs67120076dbSNPEnsembl.1
Natural variantiVAR_004914225P → R in OTCD; neonatal. Corresponds to variant rs67120076dbSNPEnsembl.1
Natural variantiVAR_004915225P → T in OTCD; late onset. 1 PublicationCorresponds to variant rs72558428dbSNPEnsembl.1
Natural variantiVAR_004916242T → I in OTCD; late onset. Corresponds to variant rs72558435dbSNPEnsembl.1
Natural variantiVAR_004917244L → Q in OTCD; late onset. 1 PublicationCorresponds to variant rs72558436dbSNPEnsembl.1
Natural variantiVAR_004918247T → K in OTCD; neonatal/late onset. Corresponds to variant rs72558437dbSNPEnsembl.1
Natural variantiVAR_004919255H → P in OTCD. Corresponds to variant rs72558440dbSNPEnsembl.1
Natural variantiVAR_010608262T → K in OTCD; mild. 1 PublicationCorresponds to variant rs67333670dbSNPEnsembl.1
Natural variantiVAR_004920263D → G in OTCD. Corresponds to variant rs72558443dbSNPEnsembl.1
Natural variantiVAR_004921263D → N in OTCD. 1 PublicationCorresponds to variant rs72558442dbSNPEnsembl.1
Natural variantiVAR_004922264T → A in OTCD; late onset; 8.9% activity. 2 PublicationsCorresponds to variant rs72558444dbSNPEnsembl.1
Natural variantiVAR_004923264T → I in OTCD; late onset. 1 PublicationCorresponds to variant rs67156896dbSNPEnsembl.1
Natural variantiVAR_010609265W → L in OTCD; mild. 1 PublicationCorresponds to variant rs72558446dbSNPEnsembl.1
Natural variantiVAR_004924267S → R in OTCD. 1 PublicationCorresponds to variant rs72558448dbSNPEnsembl.1
Natural variantiVAR_004925268M → T in OTCD; late onset. Corresponds to variant rs72558449dbSNPEnsembl.1
Natural variantiVAR_004926269G → E in OTCD; neonatal. 1 PublicationCorresponds to variant rs72558450dbSNPEnsembl.1
Natural variantiVAR_004927270Q → R in about 5% of population. 3 PublicationsCorresponds to variant rs1800328dbSNPEnsembl.1
Natural variantiVAR_004928272Missing in OTCD; late onset. 1 Publication1
Natural variantiVAR_004929277R → Q in OTCD; late onset. 2 PublicationsCorresponds to variant rs66724222dbSNPEnsembl.1
Natural variantiVAR_004930277R → W in OTCD; late onset. 2 PublicationsCorresponds to variant rs72558454dbSNPEnsembl.1
Natural variantiVAR_012654301L → F in OTCD. 1 PublicationCorresponds to variant rs72558462dbSNPEnsembl.1
Natural variantiVAR_004931302H → L in OTCD; female; late onset. 1 PublicationCorresponds to variant rs67993095dbSNPEnsembl.1
Natural variantiVAR_004932302H → Q in OTCD; late onset. Corresponds to variant rs67870244dbSNPEnsembl.1
Natural variantiVAR_004933302H → Y in OTCD; neonatal. 1 PublicationCorresponds to variant rs72558463dbSNPEnsembl.1
Natural variantiVAR_004934303C → R in OTCD; neonatal. 1 PublicationCorresponds to variant rs67468335dbSNPEnsembl.1
Natural variantiVAR_004935303C → Y in OTCD. Corresponds to variant rs72558464dbSNPEnsembl.1
Natural variantiVAR_004936304L → F in OTCD. 1 PublicationCorresponds to variant rs72558465dbSNPEnsembl.1
Natural variantiVAR_012655305P → H in OTCD. 1 PublicationCorresponds to variant rs67501347dbSNPEnsembl.1
Natural variantiVAR_004937309Missing in OTCD; late onset. 1 Publication1
Natural variantiVAR_004938320R → L in OTCD. 1 PublicationCorresponds to variant rs72558474dbSNPEnsembl.1
Natural variantiVAR_010610326E → K in OTCD. 1 PublicationCorresponds to variant rs72558476dbSNPEnsembl.1
Natural variantiVAR_004939330R → G in OTCD. Corresponds to variant rs72558478dbSNPEnsembl.1
Natural variantiVAR_012656333T → A.1 Publication1
Natural variantiVAR_004940336A → S in OTCD; late onset. Corresponds to variant rs72558486dbSNPEnsembl.1
Natural variantiVAR_004941337V → L in OTCD; late onset. Corresponds to variant rs72558487dbSNPEnsembl.1
Natural variantiVAR_004942339V → L in OTCD; neonatal. Corresponds to variant rs72558488dbSNPEnsembl.1
Natural variantiVAR_004943340S → P in OTCD; late onset. 1 PublicationCorresponds to variant rs72558489dbSNPEnsembl.1
Natural variantiVAR_012657341L → P in OTCD. 1 PublicationCorresponds to variant rs72558490dbSNPEnsembl.1
Natural variantiVAR_004944343T → K in OTCD; late onset. 1 PublicationCorresponds to variant rs72558491dbSNPEnsembl.1
Natural variantiVAR_004946345Y → C in OTCD; neonatal. Corresponds to variant rs72558492dbSNPEnsembl.1
Natural variantiVAR_004947345Y → D in OTCD. 1 PublicationCorresponds to variant rs66469337dbSNPEnsembl.1
Natural variantiVAR_004948354F → C in OTCD; late onset. Corresponds to variant rs72558495dbSNPEnsembl.1

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.
AL607040, AF241726, AL606748 Genomic DNA. Translation: CAI95193.1.
AL606748, AL607040, AF241726 Genomic DNA. Translation: CAI95408.1.
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.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

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.
AL607040, AF241726, AL606748 Genomic DNA. Translation: CAI95193.1.
AL606748, AL607040, AF241726 Genomic DNA. Translation: CAI95408.1.
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. 12 interactors.
STRINGi9606.ENSP00000039007.

Chemistry databases

BindingDBiP00480.
ChEMBLiCHEMBL2222.
DrugBankiDB00155. L-Citrulline.
DB00129. L-Ornithine.

PTM databases

iPTMnetiP00480.
PhosphoSitePlusiP00480.

Polymorphism and mutation databases

BioMutaiOTC.
DMDMi84028235.

2D gel databases

REPRODUCTION-2DPAGEP00480.

Proteomic databases

EPDiP00480.
MaxQBiP00480.
PaxDbiP00480.
PeptideAtlasiP00480.
PRIDEiP00480.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi5009.
DisGeNETi5009.
GeneCardsiOTC.
GeneReviewsiOTC.
HGNCiHGNC:8512. OTC.
HPAiHPA000243.
HPA000570.
MalaCardsiOTC.
MIMi300461. gene.
311250. phenotype.
neXtProtiNX_P00480.
OpenTargetsiENSG00000036473.
Orphaneti664. Ornithine transcarbamylase deficiency.
PharmGKBiPA32840.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1504. Eukaryota.
COG0078. LUCA.
GeneTreeiENSGT00510000047417.
HOGENOMiHOG000022686.
HOVERGENiHBG007881.
InParanoidiP00480.
KOiK00611.
OMAiEHPCQIL.
OrthoDBiEOG091G0QB1.
PhylomeDBiP00480.
TreeFamiTF352580.

Enzyme and pathway databases

UniPathwayiUPA00158; UER00271.
BioCyciMetaCyc:HS00516-MONOMER.
ZFISH:HS00516-MONOMER.
BRENDAi2.1.3.3. 2681.
ReactomeiR-HSA-70635. Urea cycle.
SABIO-RKP00480.

Miscellaneous databases

EvolutionaryTraceiP00480.
GeneWikiiOrnithine_transcarbamylase.
GenomeRNAii5009.
PMAP-CutDBP00480.
PROiP00480.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000036473.
CleanExiHS_OTC.
GenevisibleiP00480. HS.

Family and domain databases

Gene3Di3.40.50.1370. 2 hits.
InterProiIPR006132. Asp/Orn_carbamoyltranf_P-bd.
IPR006130. Asp/Orn_carbamoylTrfase.
IPR006131. Asp_carbamoyltransf_Asp/Orn-bd.
IPR002292. Orn/put_carbamltrans.
[Graphical view]
PfamiPF00185. OTCace. 1 hit.
PF02729. OTCace_N. 1 hit.
[Graphical view]
PRINTSiPR00100. AOTCASE.
PR00102. OTCASE.
SUPFAMiSSF53671. SSF53671. 1 hit.
TIGRFAMsiTIGR00658. orni_carb_tr. 1 hit.
PROSITEiPS00097. CARBAMOYLTRANSFERASE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiOTC_HUMAN
AccessioniPrimary (citable) accession number: P00480
Secondary accession number(s): A8K9P2
, D3DWB0, Q3KNR1, Q6B0I1, Q9NYJ5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: December 20, 2005
Last modified: November 2, 2016
This is version 203 of the entry and version 3 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.