Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
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)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei141 – 1411Carbamoyl phosphate
Binding sitei141 – 1411Ornithine
Binding sitei199 – 1991Ornithine
Active sitei303 – 3031By similarity
Binding sitei330 – 3301Carbamoyl phosphate
Binding sitei330 – 3301Ornithine

GO - Molecular functioni

GO - Biological processi

  • ammonia homeostasis Source: BHF-UCL
  • 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.
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti26 – 261R → Q in OTCD. 1 Publication
VAR_004843
Natural varianti39 – 391G → C in OTCD; late onset. 1 Publication
VAR_004844
Natural varianti40 – 401R → C in OTCD; late onset.
VAR_004845
Natural varianti40 – 401R → H in OTCD; late onset. 2 Publications
VAR_004846
Natural varianti44 – 441T → I in OTCD. 1 Publication
VAR_004848
Natural varianti45 – 451L → P in OTCD. 1 Publication
VAR_004849
Natural varianti45 – 451L → V in OTCD.
VAR_004850
Natural varianti47 – 471N → I in OTCD; neonatal.
VAR_004852
Natural varianti50 – 501G → R in OTCD; late onset.
VAR_004853
Natural varianti55 – 551Y → D in OTCD; late onset. 1 Publication
VAR_004854
Natural varianti56 – 561M → T in OTCD; late onset.
VAR_004855
Natural varianti60 – 601S → L in OTCD.
VAR_004856
Natural varianti63 – 631L → P in OTCD; late onset. 1 Publication
VAR_004857
Natural varianti79 – 791G → E in OTCD. 1 Publication
VAR_004858
Natural varianti82 – 821Missing in OTCD.
VAR_004859
Natural varianti83 – 831G → D in OTCD. 1 Publication
VAR_004860
Natural varianti83 – 831G → R in OTCD; neonatal.
VAR_004861
Natural varianti87 – 871E → K in OTCD.
VAR_004862
Natural varianti88 – 881K → N in OTCD; late onset. 2 Publications
VAR_004863
Natural varianti90 – 901S → R in OTCD.
VAR_004864
Natural varianti92 – 921R → Q in OTCD. 1 Publication
VAR_004865
Natural varianti93 – 931T → A in OTCD; late onset.
VAR_004866
Natural varianti94 – 941R → T in OTCD. 1 Publication
VAR_004867
Natural varianti100 – 1001G → D in OTCD; late onset. 1 Publication
VAR_004868
Natural varianti102 – 1021A → E in OTCD.
VAR_004870
Natural varianti117 – 1171H → L in OTCD. 1 Publication
VAR_004872
Natural varianti117 – 1171H → R in OTCD; late onset.
VAR_004873
Natural varianti125 – 1251T → M in OTCD; neonatal. 1 Publication
Corresponds to variant rs72554356 [ dbSNP | Ensembl ].
VAR_004874
Natural varianti126 – 1261D → G in OTCD; 0.9% of wild-type activity; early onset. 1 Publication
VAR_004875
Natural varianti129 – 1291R → H in OTCD; 2.1% of wild-type activity; early onset. 2 Publications
VAR_004876
Natural varianti139 – 1391L → S in OTCD.
VAR_004877
Natural varianti140 – 1401A → P in OTCD; late onset. 1 Publication
VAR_010605
Natural varianti141 – 1411R → P in OTCD.
VAR_004878
Natural varianti141 – 1411R → Q in OTCD; activity is 100-fold lower; most common point mutation. 3 Publications
VAR_004879
Natural varianti148 – 1481L → F in OTCD.
VAR_004880
Natural varianti159 – 1591I → T in OTCD. 1 Publication
VAR_004881
Natural varianti160 – 1601I → S in OTCD. 1 Publication
VAR_012651
Natural varianti161 – 1611N → S in OTCD.
VAR_004882
Natural varianti162 – 1621G → R in OTCD.
VAR_004883
Natural varianti168 – 1681H → Q in OTCD; late onset.
VAR_004884
Natural varianti168 – 1681H → R in OTCD; late onset.
VAR_004885
Natural varianti172 – 1721I → F in OTCD. 1 Publication
VAR_009233
Natural varianti172 – 1721I → M in OTCD; no activity; early onset. 1 Publication
VAR_004886
Natural varianti174 – 1741A → P in OTCD.
VAR_004887
Natural varianti175 – 1751D → V in OTCD.
VAR_004888
Natural varianti176 – 1761Y → C in OTCD; late onset. 1 Publication
VAR_004889
Natural varianti178 – 1792Missing in OTCD; neonatal.
VAR_004891
Natural varianti178 – 1781T → M in OTCD; neonatal.
VAR_004890
Natural varianti180 – 1801Q → H in OTCD. 1 Publication
VAR_004892
Natural varianti181 – 1811E → G in OTCD; neonatal.
VAR_004893
Natural varianti182 – 1821H → L in OTCD. 1 Publication
VAR_004894
Natural varianti183 – 1831Y → C in OTCD.
VAR_004895
Natural varianti183 – 1831Y → D in OTCD; late onset. 1 Publication
VAR_004896
Natural varianti188 – 1881G → R in OTCD; neonatal. 1 Publication
VAR_004897
Natural varianti188 – 1881G → V in OTCD. 1 Publication
VAR_009234
Natural varianti191 – 1911L → F in OTCD. 1 Publication
VAR_012652
Natural varianti192 – 1921S → R in OTCD; neonatal.
VAR_004898
Natural varianti195 – 1951G → R in OTCD; no activity. 2 Publications
VAR_004899
Natural varianti196 – 1961D → V in OTCD; neonatal; 3.7% activity. 1 Publication
VAR_004900
Natural varianti196 – 1961D → Y in OTCD; neonatal.
VAR_004901
Natural varianti197 – 1971G → E in OTCD.
VAR_004902
Natural varianti197 – 1971G → R in OTCD. 1 Publication
VAR_009235
Natural varianti198 – 1981N → K in OTCD. 1 Publication
VAR_010606
Natural varianti201 – 2011L → P in OTCD; neonatal. 1 Publication
VAR_004903
Natural varianti202 – 2021H → Y in OTCD. 1 Publication
VAR_004904
Natural varianti203 – 2031S → C in OTCD. 1 Publication
VAR_004905
Natural varianti206 – 2061M → I in OTCD. 1 Publication
VAR_012653
Natural varianti206 – 2061M → R in OTCD; neonatal.
VAR_004906
Natural varianti207 – 2071S → R in OTCD; neonatal. 1 Publication
VAR_004907
Natural varianti208 – 2081A → T in OTCD; late onset.
VAR_004908
Natural varianti209 – 2091A → V in OTCD; neonatal. 3 Publications
VAR_004909
Natural varianti213 – 2131M → K in OTCD; late onset. 1 Publication
VAR_004910
Natural varianti214 – 2141H → Y in OTCD; neonatal. 1 Publication
VAR_010607
Natural varianti216 – 2161Q → E in OTCD. 1 Publication
VAR_004911
Natural varianti220 – 2201P → A in OTCD; late onset. 1 Publication
VAR_004912
Natural varianti225 – 2251P → L in OTCD. 1 Publication
VAR_004913
Natural varianti225 – 2251P → R in OTCD; neonatal.
VAR_004914
Natural varianti225 – 2251P → T in OTCD; late onset. 1 Publication
VAR_004915
Natural varianti242 – 2421T → I in OTCD; late onset.
VAR_004916
Natural varianti244 – 2441L → Q in OTCD; late onset. 1 Publication
VAR_004917
Natural varianti247 – 2471T → K in OTCD; neonatal/late onset.
VAR_004918
Natural varianti255 – 2551H → P in OTCD.
VAR_004919
Natural varianti262 – 2621T → K in OTCD; mild. 1 Publication
VAR_010608
Natural varianti263 – 2631D → G in OTCD.
VAR_004920
Natural varianti263 – 2631D → N in OTCD. 1 Publication
VAR_004921
Natural varianti264 – 2641T → A in OTCD; late onset; 8.9% activity. 2 Publications
VAR_004922
Natural varianti264 – 2641T → I in OTCD; late onset. 1 Publication
VAR_004923
Natural varianti265 – 2651W → L in OTCD; mild. 1 Publication
VAR_010609
Natural varianti267 – 2671S → R in OTCD. 1 Publication
VAR_004924
Natural varianti268 – 2681M → T in OTCD; late onset.
VAR_004925
Natural varianti269 – 2691G → E in OTCD; neonatal. 1 Publication
VAR_004926
Natural varianti272 – 2721Missing in OTCD; late onset. 1 Publication
VAR_004928
Natural varianti277 – 2771R → Q in OTCD; late onset. 2 Publications
VAR_004929
Natural varianti277 – 2771R → W in OTCD; late onset. 2 Publications
VAR_004930
Natural varianti301 – 3011L → F in OTCD. 1 Publication
VAR_012654
Natural varianti302 – 3021H → L in OTCD; female; late onset. 1 Publication
VAR_004931
Natural varianti302 – 3021H → Q in OTCD; late onset.
VAR_004932
Natural varianti302 – 3021H → Y in OTCD; neonatal. 1 Publication
VAR_004933
Natural varianti303 – 3031C → R in OTCD; neonatal. 1 Publication
VAR_004934
Natural varianti303 – 3031C → Y in OTCD.
VAR_004935
Natural varianti304 – 3041L → F in OTCD. 1 Publication
VAR_004936
Natural varianti305 – 3051P → H in OTCD. 1 Publication
VAR_012655
Natural varianti309 – 3091Missing in OTCD; late onset. 1 Publication
VAR_004937
Natural varianti320 – 3201R → L in OTCD. 1 Publication
VAR_004938
Natural varianti326 – 3261E → K in OTCD. 1 Publication
VAR_010610
Natural varianti330 – 3301R → G in OTCD.
VAR_004939
Natural varianti336 – 3361A → S in OTCD; late onset.
VAR_004940
Natural varianti337 – 3371V → L in OTCD; late onset.
VAR_004941
Natural varianti339 – 3391V → L in OTCD; neonatal.
VAR_004942
Natural varianti340 – 3401S → P in OTCD; late onset. 1 Publication
VAR_004943
Natural varianti341 – 3411L → P in OTCD. 1 Publication
VAR_012657
Natural varianti343 – 3431T → K in OTCD; late onset. 1 Publication
VAR_004944
Natural varianti345 – 3451Y → C in OTCD; neonatal.
VAR_004946
Natural varianti345 – 3451Y → D in OTCD. 1 Publication
VAR_004947
Natural varianti354 – 3541F → C in OTCD; late onset.
VAR_004948

Keywords - Diseasei

Disease mutation

Organism-specific databases

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

Chemistry

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

Polymorphism and mutation databases

BioMutaiOTC.
DMDMi84028235.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 3232MitochondrionAdd
BLAST
Chaini33 – 354322Ornithine carbamoyltransferase, mitochondrialPRO_0000020334Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei70 – 701N6-acetyllysine; alternateBy similarity
Modified residuei70 – 701N6-succinyllysine; alternateBy similarity
Modified residuei80 – 801N6-succinyllysineBy similarity
Modified residuei88 – 881N6-acetyllysine; alternate1 Publication
Modified residuei88 – 881N6-succinyllysine; alternateBy similarity
Modified residuei133 – 1331PhosphoserineCombined sources
Modified residuei144 – 1441N6-acetyllysine; alternateBy similarity
Modified residuei144 – 1441N6-succinyllysine; alternateBy similarity
Modified residuei221 – 2211N6-acetyllysine; alternateBy similarity
Modified residuei221 – 2211N6-succinyllysine; alternateBy similarity
Modified residuei231 – 2311N6-acetyllysine; alternateBy similarity
Modified residuei231 – 2311N6-succinyllysine; alternateBy similarity
Modified residuei238 – 2381N6-acetyllysine; alternateBy similarity
Modified residuei238 – 2381N6-succinyllysine; alternateBy similarity
Modified residuei243 – 2431N6-acetyllysineBy similarity
Modified residuei274 – 2741N6-succinyllysineBy similarity
Modified residuei289 – 2891N6-succinyllysineBy similarity
Modified residuei292 – 2921N6-acetyllysine; alternateBy similarity
Modified residuei292 – 2921N6-succinyllysine; alternateBy similarity
Modified residuei307 – 3071N6-acetyllysine; alternateBy similarity
Modified residuei307 – 3071N6-succinyllysine; alternateBy similarity

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.
PhosphoSiteiP00480.

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 interactions.
STRINGi9606.ENSP00000039007.

Chemistry

BindingDBiP00480.

Structurei

Secondary structure

1
354
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi45 – 473Combined sources
Helixi50 – 6819Combined sources
Turni76 – 794Combined sources
Beta strandi81 – 888Combined sources
Helixi92 – 10312Combined sources
Beta strandi107 – 1126Combined sources
Turni113 – 1153Combined sources
Turni119 – 1213Combined sources
Helixi124 – 13411Combined sources
Beta strandi136 – 1416Combined sources
Helixi145 – 15410Combined sources
Beta strandi159 – 1624Combined sources
Helixi169 – 18315Combined sources
Beta strandi190 – 1956Combined sources
Helixi199 – 2057Combined sources
Turni206 – 2083Combined sources
Helixi209 – 2113Combined sources
Beta strandi214 – 2185Combined sources
Helixi227 – 24014Combined sources
Beta strandi244 – 2485Combined sources
Helixi250 – 2545Combined sources
Beta strandi258 – 2625Combined sources
Helixi271 – 2733Combined sources
Helixi274 – 2807Combined sources
Turni281 – 2833Combined sources
Helixi288 – 2925Combined sources
Beta strandi299 – 3024Combined sources
Turni308 – 3103Combined sources
Helixi313 – 3164Combined sources
Helixi323 – 34220Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1C9YX-ray1.90A34-354[»]
1EP9X-ray2.40A34-354[»]
1FVOX-ray2.60A/B34-354[»]
1OTHX-ray1.85A34-354[»]
ProteinModelPortaliP00480.
SMRiP00480. Positions 34-354.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP00480.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni90 – 945Ornithine and carbamoyl phosphate binding
Regioni168 – 1714Ornithine and carbamoyl phosphate binding
Regioni263 – 2675Ornithine binding
Regioni302 – 3054Ornithine bindingBy similarity

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti193 – 1942WI → CF in AAA59975 (PubMed:6372096).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti26 – 261R → Q in OTCD. 1 Publication
VAR_004843
Natural varianti39 – 391G → C in OTCD; late onset. 1 Publication
VAR_004844
Natural varianti40 – 401R → C in OTCD; late onset.
VAR_004845
Natural varianti40 – 401R → H in OTCD; late onset. 2 Publications
VAR_004846
Natural varianti43 – 431L → F.1 Publication
VAR_004847
Natural varianti44 – 441T → I in OTCD. 1 Publication
VAR_004848
Natural varianti45 – 451L → P in OTCD. 1 Publication
VAR_004849
Natural varianti45 – 451L → V in OTCD.
VAR_004850
Natural varianti46 – 461K → R.2 Publications
Corresponds to variant rs1800321 [ dbSNP | Ensembl ].
VAR_004851
Natural varianti47 – 471N → I in OTCD; neonatal.
VAR_004852
Natural varianti50 – 501G → R in OTCD; late onset.
VAR_004853
Natural varianti55 – 551Y → D in OTCD; late onset. 1 Publication
VAR_004854
Natural varianti56 – 561M → T in OTCD; late onset.
VAR_004855
Natural varianti60 – 601S → L in OTCD.
VAR_004856
Natural varianti63 – 631L → P in OTCD; late onset. 1 Publication
VAR_004857
Natural varianti79 – 791G → E in OTCD. 1 Publication
VAR_004858
Natural varianti82 – 821Missing in OTCD.
VAR_004859
Natural varianti83 – 831G → D in OTCD. 1 Publication
VAR_004860
Natural varianti83 – 831G → R in OTCD; neonatal.
VAR_004861
Natural varianti87 – 871E → K in OTCD.
VAR_004862
Natural varianti88 – 881K → N in OTCD; late onset. 2 Publications
VAR_004863
Natural varianti90 – 901S → R in OTCD.
VAR_004864
Natural varianti92 – 921R → Q in OTCD. 1 Publication
VAR_004865
Natural varianti93 – 931T → A in OTCD; late onset.
VAR_004866
Natural varianti94 – 941R → T in OTCD. 1 Publication
VAR_004867
Natural varianti100 – 1001G → D in OTCD; late onset. 1 Publication
VAR_004868
Natural varianti101 – 1011F → L.2 Publications
VAR_004869
Natural varianti102 – 1021A → E in OTCD.
VAR_004870
Natural varianti111 – 1111L → P.2 Publications
Corresponds to variant rs1800324 [ dbSNP | Ensembl ].
VAR_004871
Natural varianti117 – 1171H → L in OTCD. 1 Publication
VAR_004872
Natural varianti117 – 1171H → R in OTCD; late onset.
VAR_004873
Natural varianti125 – 1251T → M in OTCD; neonatal. 1 Publication
Corresponds to variant rs72554356 [ dbSNP | Ensembl ].
VAR_004874
Natural varianti126 – 1261D → G in OTCD; 0.9% of wild-type activity; early onset. 1 Publication
VAR_004875
Natural varianti129 – 1291R → H in OTCD; 2.1% of wild-type activity; early onset. 2 Publications
VAR_004876
Natural varianti139 – 1391L → S in OTCD.
VAR_004877
Natural varianti140 – 1401A → P in OTCD; late onset. 1 Publication
VAR_010605
Natural varianti141 – 1411R → P in OTCD.
VAR_004878
Natural varianti141 – 1411R → Q in OTCD; activity is 100-fold lower; most common point mutation. 3 Publications
VAR_004879
Natural varianti148 – 1481L → F in OTCD.
VAR_004880
Natural varianti159 – 1591I → T in OTCD. 1 Publication
VAR_004881
Natural varianti160 – 1601I → S in OTCD. 1 Publication
VAR_012651
Natural varianti161 – 1611N → S in OTCD.
VAR_004882
Natural varianti162 – 1621G → R in OTCD.
VAR_004883
Natural varianti168 – 1681H → Q in OTCD; late onset.
VAR_004884
Natural varianti168 – 1681H → R in OTCD; late onset.
VAR_004885
Natural varianti172 – 1721I → F in OTCD. 1 Publication
VAR_009233
Natural varianti172 – 1721I → M in OTCD; no activity; early onset. 1 Publication
VAR_004886
Natural varianti174 – 1741A → P in OTCD.
VAR_004887
Natural varianti175 – 1751D → V in OTCD.
VAR_004888
Natural varianti176 – 1761Y → C in OTCD; late onset. 1 Publication
VAR_004889
Natural varianti178 – 1792Missing in OTCD; neonatal.
VAR_004891
Natural varianti178 – 1781T → M in OTCD; neonatal.
VAR_004890
Natural varianti180 – 1801Q → H in OTCD. 1 Publication
VAR_004892
Natural varianti181 – 1811E → G in OTCD; neonatal.
VAR_004893
Natural varianti182 – 1821H → L in OTCD. 1 Publication
VAR_004894
Natural varianti183 – 1831Y → C in OTCD.
VAR_004895
Natural varianti183 – 1831Y → D in OTCD; late onset. 1 Publication
VAR_004896
Natural varianti188 – 1881G → R in OTCD; neonatal. 1 Publication
VAR_004897
Natural varianti188 – 1881G → V in OTCD. 1 Publication
VAR_009234
Natural varianti191 – 1911L → F in OTCD. 1 Publication
VAR_012652
Natural varianti192 – 1921S → R in OTCD; neonatal.
VAR_004898
Natural varianti195 – 1951G → R in OTCD; no activity. 2 Publications
VAR_004899
Natural varianti196 – 1961D → V in OTCD; neonatal; 3.7% activity. 1 Publication
VAR_004900
Natural varianti196 – 1961D → Y in OTCD; neonatal.
VAR_004901
Natural varianti197 – 1971G → E in OTCD.
VAR_004902
Natural varianti197 – 1971G → R in OTCD. 1 Publication
VAR_009235
Natural varianti198 – 1981N → K in OTCD. 1 Publication
VAR_010606
Natural varianti201 – 2011L → P in OTCD; neonatal. 1 Publication
VAR_004903
Natural varianti202 – 2021H → Y in OTCD. 1 Publication
VAR_004904
Natural varianti203 – 2031S → C in OTCD. 1 Publication
VAR_004905
Natural varianti206 – 2061M → I in OTCD. 1 Publication
VAR_012653
Natural varianti206 – 2061M → R in OTCD; neonatal.
VAR_004906
Natural varianti207 – 2071S → R in OTCD; neonatal. 1 Publication
VAR_004907
Natural varianti208 – 2081A → T in OTCD; late onset.
VAR_004908
Natural varianti209 – 2091A → V in OTCD; neonatal. 3 Publications
VAR_004909
Natural varianti213 – 2131M → K in OTCD; late onset. 1 Publication
VAR_004910
Natural varianti214 – 2141H → Y in OTCD; neonatal. 1 Publication
VAR_010607
Natural varianti216 – 2161Q → E in OTCD. 1 Publication
VAR_004911
Natural varianti220 – 2201P → A in OTCD; late onset. 1 Publication
VAR_004912
Natural varianti225 – 2251P → L in OTCD. 1 Publication
VAR_004913
Natural varianti225 – 2251P → R in OTCD; neonatal.
VAR_004914
Natural varianti225 – 2251P → T in OTCD; late onset. 1 Publication
VAR_004915
Natural varianti242 – 2421T → I in OTCD; late onset.
VAR_004916
Natural varianti244 – 2441L → Q in OTCD; late onset. 1 Publication
VAR_004917
Natural varianti247 – 2471T → K in OTCD; neonatal/late onset.
VAR_004918
Natural varianti255 – 2551H → P in OTCD.
VAR_004919
Natural varianti262 – 2621T → K in OTCD; mild. 1 Publication
VAR_010608
Natural varianti263 – 2631D → G in OTCD.
VAR_004920
Natural varianti263 – 2631D → N in OTCD. 1 Publication
VAR_004921
Natural varianti264 – 2641T → A in OTCD; late onset; 8.9% activity. 2 Publications
VAR_004922
Natural varianti264 – 2641T → I in OTCD; late onset. 1 Publication
VAR_004923
Natural varianti265 – 2651W → L in OTCD; mild. 1 Publication
VAR_010609
Natural varianti267 – 2671S → R in OTCD. 1 Publication
VAR_004924
Natural varianti268 – 2681M → T in OTCD; late onset.
VAR_004925
Natural varianti269 – 2691G → E in OTCD; neonatal. 1 Publication
VAR_004926
Natural varianti270 – 2701Q → R in about 5% of population. 3 Publications
Corresponds to variant rs1800328 [ dbSNP | Ensembl ].
VAR_004927
Natural varianti272 – 2721Missing in OTCD; late onset. 1 Publication
VAR_004928
Natural varianti277 – 2771R → Q in OTCD; late onset. 2 Publications
VAR_004929
Natural varianti277 – 2771R → W in OTCD; late onset. 2 Publications
VAR_004930
Natural varianti301 – 3011L → F in OTCD. 1 Publication
VAR_012654
Natural varianti302 – 3021H → L in OTCD; female; late onset. 1 Publication
VAR_004931
Natural varianti302 – 3021H → Q in OTCD; late onset.
VAR_004932
Natural varianti302 – 3021H → Y in OTCD; neonatal. 1 Publication
VAR_004933
Natural varianti303 – 3031C → R in OTCD; neonatal. 1 Publication
VAR_004934
Natural varianti303 – 3031C → Y in OTCD.
VAR_004935
Natural varianti304 – 3041L → F in OTCD. 1 Publication
VAR_004936
Natural varianti305 – 3051P → H in OTCD. 1 Publication
VAR_012655
Natural varianti309 – 3091Missing in OTCD; late onset. 1 Publication
VAR_004937
Natural varianti320 – 3201R → L in OTCD. 1 Publication
VAR_004938
Natural varianti326 – 3261E → K in OTCD. 1 Publication
VAR_010610
Natural varianti330 – 3301R → G in OTCD.
VAR_004939
Natural varianti333 – 3331T → A.1 Publication
VAR_012656
Natural varianti336 – 3361A → S in OTCD; late onset.
VAR_004940
Natural varianti337 – 3371V → L in OTCD; late onset.
VAR_004941
Natural varianti339 – 3391V → L in OTCD; neonatal.
VAR_004942
Natural varianti340 – 3401S → P in OTCD; late onset. 1 Publication
VAR_004943
Natural varianti341 – 3411L → P in OTCD. 1 Publication
VAR_012657
Natural varianti343 – 3431T → K in OTCD; late onset. 1 Publication
VAR_004944
Natural varianti345 – 3451Y → C in OTCD; neonatal.
VAR_004946
Natural varianti345 – 3451Y → D in OTCD. 1 Publication
VAR_004947
Natural varianti354 – 3541F → C in OTCD; late onset.
VAR_004948

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
EntryMethodResolution (Å)ChainPositionsPDBsum
1C9YX-ray1.90A34-354[»]
1EP9X-ray2.40A34-354[»]
1FVOX-ray2.60A/B34-354[»]
1OTHX-ray1.85A34-354[»]
ProteinModelPortaliP00480.
SMRiP00480. Positions 34-354.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111050. 12 interactions.
STRINGi9606.ENSP00000039007.

Chemistry

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

PTM databases

iPTMnetiP00480.
PhosphoSiteiP00480.

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.
GeneCardsiOTC.
GeneReviewsiOTC.
HGNCiHGNC:8512. OTC.
HPAiHPA000243.
HPA000570.
MalaCardsiOTC.
MIMi300461. gene.
311250. phenotype.
neXtProtiNX_P00480.
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.
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: September 7, 2016
This is version 201 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.