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P00480

- OTC_HUMAN

UniProt

P00480 - OTC_HUMAN

Protein

Ornithine carbamoyltransferase, mitochondrial

Gene

OTC

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 182 (01 Oct 2014)
      Sequence version 3 (20 Dec 2005)
      Previous versions | rss
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    Functioni

    Catalytic activityi

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

    Enzyme regulationi

    Negatively regulated by lysine acetylation.1 Publication

    Pathwayi

    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

    1. amino acid binding Source: Ensembl
    2. ornithine carbamoyltransferase activity Source: BHF-UCL
    3. phosphate ion binding Source: Ensembl
    4. phospholipid binding Source: Ensembl

    GO - Biological processi

    1. ammonia homeostasis Source: BHF-UCL
    2. arginine biosynthetic process Source: UniProtKB-KW
    3. cellular nitrogen compound metabolic process Source: Reactome
    4. citrulline biosynthetic process Source: BHF-UCL
    5. liver development Source: Ensembl
    6. midgut development Source: Ensembl
    7. ornithine catabolic process Source: BHF-UCL
    8. protein homotrimerization Source: Ensembl
    9. response to biotin Source: Ensembl
    10. response to drug Source: Ensembl
    11. response to insulin Source: Ensembl
    12. response to zinc ion Source: Ensembl
    13. small molecule metabolic process Source: Reactome
    14. urea cycle Source: BHF-UCL

    Keywords - Molecular functioni

    Transferase

    Keywords - Biological processi

    Amino-acid biosynthesis, Arginine biosynthesis, Urea cycle

    Enzyme and pathway databases

    BioCyciMetaCyc:HS00516-MONOMER.
    ReactomeiREACT_847. 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
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:8512. OTC.

    Subcellular locationi

    GO - Cellular componenti

    1. mitochondrial inner membrane Source: Ensembl
    2. mitochondrial matrix Source: UniProtKB
    3. mitochondrion Source: BHF-UCL

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]: An X-linked disorder of the urea cycle which causes a form of hyperammonemia. Mutations with no residual enzyme activity are always expressed in hemizygote males by a very severe neonatal hyperammonemic coma that generally proves to be fatal. Heterozygous females are either asymptomatic or express orotic aciduria spontaneously or after protein intake. The disorder is treatable with supplemental dietary arginine and low protein diet. The arbitrary classification of patients into the 'neonatal' group (clinical hyperammonemia in the first few days of life) and 'late' onset (clinical presentation after the neonatal period) has been used to differentiate severe from mild forms.29 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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
    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. 2 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. 1 Publication
    VAR_004899
    Natural varianti196 – 1961D → V in OTCD; neonatal; 3.7% activity.
    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. 1 Publication
    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. 1 Publication
    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

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

    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 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

    Proteomic databases

    PaxDbiP00480.
    PRIDEiP00480.

    2D gel databases

    REPRODUCTION-2DPAGEP00480.

    PTM databases

    PhosphoSiteiP00480.

    Miscellaneous databases

    PMAP-CutDBP00480.

    Expressioni

    Tissue specificityi

    Mainly expressed in liver and intestinal mucosa.

    Gene expression databases

    BgeeiP00480.
    CleanExiHS_OTC.
    GenevestigatoriP00480.

    Organism-specific databases

    HPAiHPA000243.
    HPA000570.

    Interactioni

    Subunit structurei

    Homotrimer.2 Publications

    Protein-protein interaction databases

    BioGridi111050. 2 interactions.
    STRINGi9606.ENSP00000039007.

    Structurei

    Secondary structure

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

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    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

    eggNOGiCOG0078.
    HOGENOMiHOG000022686.
    HOVERGENiHBG007881.
    InParanoidiP00480.
    KOiK00611.
    OMAiSATVIRY.
    OrthoDBiEOG7D85XC.
    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

    MLFNLRILLN NAAFRNGHNF MVRNFRCGQP LQNKVQLKGR DLLTLKNFTG    50
    EEIKYMLWLS ADLKFRIKQK GEYLPLLQGK SLGMIFEKRS TRTRLSTETG 100
    FALLGGHPCF LTTQDIHLGV NESLTDTARV LSSMADAVLA RVYKQSDLDT 150
    LAKEASIPII NGLSDLYHPI QILADYLTLQ EHYSSLKGLT LSWIGDGNNI 200
    LHSIMMSAAK FGMHLQAATP KGYEPDASVT KLAEQYAKEN GTKLLLTNDP 250
    LEAAHGGNVL ITDTWISMGQ EEEKKKRLQA FQGYQVTMKT AKVAASDWTF 300
    LHCLPRKPEE VDDEVFYSPR SLVFPEAENR KWTIMAVMVS LLTDYSPQLQ 350
    KPKF 354
    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
    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. 2 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. 1 Publication
    VAR_004899
    Natural varianti196 – 1961D → V in OTCD; neonatal; 3.7% activity.
    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. 1 Publication
    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. 1 Publication
    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:
    EMBL
    GenBank
    DDBJ
    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.4. human.

    Polymorphism databases

    DMDMi84028235.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS14247.1.
    PIRi A41444. OWHU.
    RefSeqi NP_000522.3. NM_000531.5.
    UniGenei Hs.117050.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1C9Y X-ray 1.90 A 34-354 [» ]
    1EP9 X-ray 2.40 A 34-354 [» ]
    1FVO X-ray 2.60 A/B 34-354 [» ]
    1OTH X-ray 1.85 A 34-354 [» ]
    ProteinModelPortali P00480.
    SMRi P00480. Positions 34-354.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111050. 2 interactions.
    STRINGi 9606.ENSP00000039007.

    Chemistry

    BindingDBi P00480.
    ChEMBLi CHEMBL2222.
    DrugBanki DB00155. L-Citrulline.
    DB00129. L-Ornithine.

    PTM databases

    PhosphoSitei P00480.

    Polymorphism databases

    DMDMi 84028235.

    2D gel databases

    REPRODUCTION-2DPAGE P00480.

    Proteomic databases

    PaxDbi P00480.
    PRIDEi P00480.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000039007 ; ENSP00000039007 ; ENSG00000036473 .
    GeneIDi 5009.
    KEGGi hsa:5009.
    UCSCi uc004def.4. human.

    Organism-specific databases

    CTDi 5009.
    GeneCardsi GC0XP038211.
    GeneReviewsi OTC.
    HGNCi HGNC:8512. OTC.
    HPAi HPA000243.
    HPA000570.
    MIMi 300461. gene.
    311250. phenotype.
    neXtProti NX_P00480.
    Orphaneti 664. Ornithine transcarbamylase deficiency.
    PharmGKBi PA32840.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0078.
    HOGENOMi HOG000022686.
    HOVERGENi HBG007881.
    InParanoidi P00480.
    KOi K00611.
    OMAi SATVIRY.
    OrthoDBi EOG7D85XC.
    PhylomeDBi P00480.
    TreeFami TF352580.

    Enzyme and pathway databases

    UniPathwayi UPA00158 ; UER00271 .
    BioCyci MetaCyc:HS00516-MONOMER.
    Reactomei REACT_847. Urea cycle.
    SABIO-RK P00480.

    Miscellaneous databases

    EvolutionaryTracei P00480.
    GeneWikii Ornithine_transcarbamylase.
    GenomeRNAii 5009.
    NextBioi 19288.
    PMAP-CutDB P00480.
    PROi P00480.
    SOURCEi Search...

    Gene expression databases

    Bgeei P00480.
    CleanExi HS_OTC.
    Genevestigatori P00480.

    Family and domain databases

    Gene3Di 3.40.50.1370. 2 hits.
    InterProi IPR006132. Asp/Orn_carbamoyltranf_P-bd.
    IPR006130. Asp/Orn_carbamoylTrfase.
    IPR006131. Asp_carbamoyltransf_Asp/Orn-bd.
    IPR002292. Orn/put_carbamltrans.
    [Graphical view ]
    Pfami PF00185. OTCace. 1 hit.
    PF02729. OTCace_N. 1 hit.
    [Graphical view ]
    PRINTSi PR00100. AOTCASE.
    PR00102. OTCASE.
    SUPFAMi SSF53671. SSF53671. 1 hit.
    TIGRFAMsi TIGR00658. orni_carb_tr. 1 hit.
    PROSITEi PS00097. CARBAMOYLTRANSFERASE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase."
      Horwich A.L., Fenton W.A., Williams K.R., Kalousek F., Kraus J.P., Doolittle R.F., Konigsberg W., Rosenberg L.E.
      Science 224:1068-1074(1984) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS PRO-111 AND ARG-270.
      Tissue: Liver.
    2. "Structure of the human ornithine transcarbamylase gene."
      Hata A., Tsuzuki T., Shimada K., Takiguchi M., Mori M., Matsuda I.
      J. Biochem. 103:302-308(1988) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT LEU-101.
      Tissue: Liver.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Liver.
    4. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ARG-46.
      Tissue: Brain.
    7. "Arginine in the leader peptide is required for both import and proteolytic cleavage of a mitochondrial precursor."
      Horwich A.L., Kalousek F., Rosenberg L.E.
      Proc. Natl. Acad. Sci. U.S.A. 82:4930-4933(1985) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-36.
    8. "Isolation and characterization of the human ornithine transcarbamylase gene: structure of the 5'-end region."
      Hata A., Tsuzuki T., Shimada K., Takiguchi M., Mori M., Matsuda I.
      J. Biochem. 100:717-725(1986) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-26.
    9. "A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern."
      Gilbert-Dussardier B., Rabier D., Strautnieks S., Segues B., Bonnefont J.-P., Munnich A.
      Hum. Mol. Genet. 3:831-832(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 269-289, VARIANT OTCD GLN-277.
    10. "Lysine 88 acetylation negatively regulates ornithine carbamoyltransferase activity in response to nutrient signals."
      Yu W., Lin Y., Yao J., Huang W., Lei Q., Xiong Y., Zhao S., Guan K.L.
      J. Biol. Chem. 284:13669-13675(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION AT LYS-88, ENZYME REGULATION.
    11. "1.85-A resolution crystal structure of human ornithine transcarbamoylase complexed with N-phosphonacetyl-L-ornithine. Catalytic mechanism and correlation with inherited deficiency."
      Shi D., Morizono H., Ha Y., Aoyagi M., Tuchman M., Allewell N.M.
      J. Biol. Chem. 273:34247-34254(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.85 ANGSTROMS) IN COMPLEX WITH SUBSTRATE ANALOG.
    12. "Crystal structure of human ornithine transcarbamylase complexed with carbamoyl phosphate and L-norvaline at 1.9 A resolution."
      Shi D., Morizono H., Aoyagi M., Tuchman M., Allewell N.M.
      Proteins 39:271-277(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) IN COMPLEX WITH SUBSTRATE.
    13. "Mutations and polymorphisms in the human ornithine transcarbamylase gene."
      Tuchman M.
      Hum. Mutat. 2:174-178(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON VARIANTS.
    14. "Mutations and polymorphisms in the human ornithine transcarbamylase gene: mutation update addendum."
      Tuchman M., Plante R.J.
      Hum. Mutat. 5:293-295(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON VARIANTS.
    15. "The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations."
      Tuchman M., Morizono H., Reish O., Yuan X., Allewell N.M.
      J. Med. Genet. 32:680-688(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON VARIANTS, 3D-STRUCTURE MODELING.
    16. "Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency."
      Maddalena A., Spence J.E., O'Brien W.E., Nussbaum R.L.
      J. Clin. Invest. 82:1353-1358(1988) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT OTCD GLN-141.
    17. "Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage."
      Grompe M., Muzny D.M., Caskey C.T.
      Proc. Natl. Acad. Sci. U.S.A. 86:5888-5892(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OTCD GLN-26; PRO-45 AND GLU-216, VARIANT ARG-46.
    18. "Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency."
      Finkelstein J.E., Francomano C.A., Brusilow S.W., Traystman M.D.
      Genomics 7:167-172(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT OTCD TRP-277.
    19. "Improved molecular diagnostics for ornithine transcarbamylase deficiency."
      Grompe M., Caskey C.T., Fenwick R.G. Jr.
      Am. J. Hum. Genet. 48:212-222(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OTCD GLN-92 AND LEU-320, VARIANT PRO-111.
    20. "Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene."
      Hentzen D., Pelet A., Feldman D., Rabier D., Berthelot J., Munnich A.
      Hum. Genet. 88:153-156(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT OTCD LEU-225.
    21. "Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism."
      Tuchman M., Holzknecht R.A., Gueron A.B., Berry S.A., Tsai M.Y.
      Pediatr. Res. 32:600-604(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OTCD GLU-79; THR-94; PHE-304 AND ASP-345.
    22. "Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency."
      Tsai M.Y., Holzknecht R.A., Tuchman M.
      Hum. Genet. 91:321-325(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT OTCD PRO-140.
    23. "The ornithine transcarbamylase gene: new 'private' mutations in four patients and study of a polymorphism."
      Tuchman M., Plante R.J., Giguere Y., Lemieux B.
      Hum. Mutat. 3:318-320(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OTCD LEU-117; LEU-182 AND CYS-203.
    24. "Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency."
      Matsuura T., Hoshide R., Kiwaki K., Komaki S., Koike E., Endo F., Oyanagi K., Suzuki Y., Kato I., Ishikawa K., Yoda H., Kamitani S., Sakaki Y., Matsuda I.
      Hum. Mutat. 3:402-406(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OTCD GLY-126; HIS-129 AND MET-172.
    25. "Seven new mutations in the human ornithine transcarbamylase gene."
      Tuchman M., Plante R.J., McCann M.T., Qureshi A.A.
      Hum. Mutat. 4:57-60(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OTCD HIS-40; HIS-129; ARG-195; THR-225; GLN-277 AND GLU-309 DEL.
    26. "A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency."
      Garcia-Perez M.A., Sanjurjo P., Briones P., Garcia-Munoz M.J., Rubio V.
      Hum. Genet. 96:549-551(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OTCD THR-159 AND VAL-209.
    27. "A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency."
      Zimmer K.P., Matsuura T., Colombo J.-P., Koch H.G., Ullrich K., Deufel T., Harms E., Matsuda I.
      J. Inherit. Metab. Dis. 18:356-357(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT OTCD GLU-269.
    28. "Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia."
      Gilbert-Dussardier B., Segues B., Rozet J.-M., Rabier D., Calvas P., de Lumley L., Bonnefont J.-P., Munnich A.
      Hum. Mutat. 8:74-76(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OTCD MET-125; ARG-188; VAL-209 AND LEU-302.
    29. "Genotype-phenotype correlations in ornithine transcarbamylase deficiency."
      Guardamagna O., Gatti E., Parini R., Plante R.J., Tuchman M.
      Enzyme Protein 49:191-191(1996)
      Cited for: VARIANTS OTCD HIS-40; ASN-88; TYR-202 AND ASN-263.
    30. "Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms."
      Leibundgut E.O., Wermuth B., Colombo J.-P., Liechti-Gallati S.
      Hum. Mutat. 8:333-339(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OTCD ASN-88; CYS-176; ALA-220; TYR-302 AND LYS-343.
    31. "A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma."
      Segues B., Saugier Veber P., Rabier D., Calvas P., Saudubray J.-M., Gilbert-Dussardier B., Bonnefont J.-P., Munnich A.
      Hum. Mutat. 8:373-374(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT OTCD GLU-272 DEL.
    32. "Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families."
      Yoo H.-W., Kim G.-H., Lee D.-H.
      J. Inherit. Metab. Dis. 19:31-42(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OTCD ILE-44; GLN-141 AND TYR-214, VARIANT LEU-101.
    33. "The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency."
      Matsuda I., Tanase S.
      Am. J. Med. Genet. 71:378-383(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OTCD.
    34. "Expression, purification and kinetic characterization of wild-type human ornithine transcarbamylase and a recurrent mutant that produces 'late onset' hyperammonaemia."
      Morizono H., Tuchman M., Rajagopal B.S., McCann M.T., Listrom C.D., Yuan X., Venugopal D., Barany G., Allewell N.M.
      Biochem. J. 322:625-631(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANT OTCD TRP-277.
    35. "Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females."
      Oppliger Leibundgut E., Liechti-Gallati S., Colombo J.-P., Wermuth B.
      Hum. Mutat. 9:409-411(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OTCD PRO-63; ASP-100; ASP-183; LYS-213 AND PRO-340, VARIANT PHE-43.
    36. "Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency."
      Tuchman M., Morizono H., Rajagopal B.S., Plante R.J., Allewell N.M.
      J. Inherit. Metab. Dis. 20:525-527(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OTCD.
    37. "Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency."
      Shimadzu M., Matsumoto H., Matsuura T., Kobayashi K., Komaki S., Kiwaki K., Hoshide R., Endo F., Saheki T., Matsuda I.
      Hum. Mutat. Suppl. 1:S5-S7(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OTCD 178-THE-LEU-179 DEL; HIS-180; PRO-201; ARG-207; ILE-264 AND ARG-267.
    38. "Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia."
      Calvas P., Seques B., Rozet J.-M., Rabier D., Bonnefont J.-P., Munnich A.
      Hum. Mutat. Suppl. 1:S81-S84(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OTCD CYS-39; GLN-244 AND ARG-303.
    39. "Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male."
      Nishiyori A., Yoshino M., Tananari Y., Matsuura T., Hoshide R., Matsuda I., Mori M., Kato H.
      Hum. Mutat. Suppl. 1:S131-S133(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT OTCD ASP-55.
    40. "A novel missense mutation in the human ornithine transcarbamylase gene."
      Bartholomew D.W., McClellan J.
      Hum. Mutat. 12:220-220(1998)
      Cited for: VARIANT OTCD ASP-83.
    41. "Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency."
      Climent C., Garcia-Perez M.A., Sanjurjo P., Ruiz-Sanz J.-I., Vilaseca M.A., Pineda M., Campistol J., Rubio V.
      Hum. Mutat. 14:352-353(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OTCD PHE-172; VAL-188 AND ARG-197.
    42. "Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patients."
      Popowska E., Ciara E., Rokicki D., Pronicka E.
      J. Inherit. Metab. Dis. 22:92-93(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OTCD LYS-198; VAL-209 AND LYS-326, VARIANT ARG-270.
    43. "Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutations."
      Giorgi M., Morrone A., Donati M.A., Ciani F., Bardelli T., Biasucci G., Zammarchi E.
      Hum. Mutat. 15:380-381(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OTCD LYS-262; ALA-264 AND LEU-265.
    44. "Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency."
      Climent C., Rubio V.
      Hum. Mutat. 19:185-186(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OTCD SER-160; PHE-191; ILE-206; PHE-301; HIS-305 AND PRO-341, VARIANT ALA-333.
    45. Cited for: VARIANT [LARGE SCALE ANALYSIS] ARG-270.

    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: October 1, 2014
    This is version 182 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

    External Data

    Dasty 3