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OTC Gene

protein-coding   GIFtS: 65
GCID: GC0XP038211

Ornithine Carbamoyltransferase

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ornithine Carbamoyltransferase1 2     OCTD2
Ornithine Transcarbamylase2 3     Ornithine Carbamoyltransferase, Mitochondrial2
OTCase2 3     EC 2.1.38
EC 2.1.3.33 8     

External Ids:    HGNC: 85121   Entrez Gene: 50092   Ensembl: ENSG000000364737   OMIM: 3004615   UniProtKB: P004803   

Export aliases for OTC gene to outside databases

Previous GC identifers: GC0XP036316 GC0XP036498 GC0XP037053 GC0XP037242 GC0XP037967 GC0XP038096 GC0XP035956


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for OTC Gene:
This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this
enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme
maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. (provided by RefSeq,
Jul 2008)

GeneCards Summary for OTC Gene:
OTC (ornithine carbamoyltransferase) is a protein-coding gene. Diseases associated with OTC include urea cycle disorder, and diaper rash. GO annotations related to this gene include phospholipid binding and phosphate ion binding.

Gene Wiki entry for OTC (Ornithine transcarbamylase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NC_018934.2  NT_079573.5  
Regulatory elements:
   Regulatory transcription factor binding sites in the OTC gene promoter:
         COUP-TF1   GR   AP-1   ATF-2   COUP   HNF-4alpha2   HNF-4alpha1   COUP-TF   c-Jun   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOTC promoter sequence
   Search Chromatin IP Primers for OTC

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OTC


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp21.1   Ensembl cytogenetic band:  Xp11.4   HGNC cytogenetic band: Xp21.1

OTC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OTC gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP038211:  view genomic region     (about GC identifiers)

Start:
38,211,736 bp from pter      End:
38,280,703 bp from pter
Size:
68,968 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: OTC_HUMAN, P00480 (See protein sequence)
Recommended Name: Ornithine carbamoyltransferase, mitochondrial precursor  
Size: 354 amino acids; 39935 Da
Subunit: Homotrimer
4 PDB 3D structures from and Proteopedia for OTC:
1C9Y (3D)        1EP9 (3D)        1FVO (3D)        1OTH (3D)    
Secondary accessions: A8K9P2 D3DWB0 Q3KNR1 Q6B0I1 Q9NYJ5

Explore the universe of human proteins at neXtProt for OTC: NX_P00480

Explore proteomics data for OTC at MOPED

Post-translational modifications: 

  • Acetylation at Lys-88 negatively regulates ornithine carbamoyltransferase activity in response to nutrient signals1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for OTC (P00480) (see all 15)
     TNDPLEA  TDTWISM  KRSTRTR  WIGDGNN 


    See OTC Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000522.3  
    ENSEMBL proteins: 
     ENSP00000039007  
    Reactome Protein details: P00480

    OTC Human Recombinant Protein Products:

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    Novus Biologicals OTC Proteins
    Novus Biologicals OTC Lysate
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    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for OTC
    Browse Proteins at Cloud-Clone Corp.

    OTC Antibody Products:

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    OTC Assay Products:

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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR006132 Asp/Orn_carbamoyltranf_P-bd
     IPR006131 Asp_carbamoyltransf_Asp/Orn-bd
     IPR002292 Orn/put_carbamltrans
     IPR006130 Asp/Orn_carbamoylTrfase

    Graphical View of Domain Structure for InterPro Entry P00480

    ProtoNet protein and cluster: P00480

    1 Blocks protein domain: IPB002292 Ornithine carbamoyltransferase signature

    UniProtKB/Swiss-Prot: OTC_HUMAN, P00480
    Similarity: Belongs to the ATCase/OTCase family


    OTC for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: OTC_HUMAN, P00480
    Catalytic activity: Carbamoyl phosphate + L-ornithine = phosphate + L-citrulline
    Enzyme regulation: Negatively regulated by lysine acetylation

         Genatlas biochemistry entry for OTC:
    ornithine carbamoyltransferase,ornithine metabolism,urea cycle,mitochondrial matrix

         Enzyme Numbers (IUBMB): EC 2.1.3.31 2 EC 2.1.32

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004585ornithine carbamoyltransferase activity IDA2556444
    GO:0005543phospholipid binding IEA--
    GO:0016597amino acid binding IEA--
    GO:0016743carboxyl- or carbamoyltransferase activity ----
    GO:0042301phosphate ion binding IEA--
         
    OTC for ontologies           About GeneDecksing


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Otc):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 
     nervous system  renal/urinary system  reproductive system 

    OTC for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for OTC
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for OTC

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for OTC
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for OTC

    miRNA
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    miRTarBase miRNAs that target OTC:
    hsa-mir-26b-5p (MIRT028822)

    Block miRNA regulation of human, mouse, rat OTC using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate OTC
    SwitchGear 3'UTR luciferase reporter plasmidOTC 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat OTC

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: OTC (NM_017617)
    Sino Biological Human cDNA Clone for OTC
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OTC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OTC

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OTC


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    OTC_HUMAN, P00480: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    peroxisome2
    chloroplast1
    endoplasmic reticulum1
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005759mitochondrial matrix TAS--
    GO:0009348ornithine carbamoyltransferase complex ----

    OTC for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for OTC About    
    See pathways by source

    SuperPathContained pathways About
    1Arginine and proline metabolism
    Arginine and proline metabolism
    proline biosynthesis II (from arginine)0.00
    superpathway of citrulline metabolism0.00
    citrulline biosynthesis0.00
    Urea cycle and metabolism of amino groups0.00
    citrulline degradation0.00
    2Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    urea cycle0.00
    Urea cycle0.00
    3Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    4Carbon metabolism
    Biosynthesis of amino acids0.38
    5glutamate degradation X
    arginine biosynthesis IV0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    Selected BioSystems Pathways for OTC (see all 7)
        citrulline biosynthesis
    arginine biosynthesis IV
    Urea cycle and metabolism of amino groups
    superpathway of citrulline metabolism
    proline biosynthesis II (from arginine)


    1 Reactome Pathway for OTC
        Urea cycle


    3 Kegg Pathways  (Kegg details for OTC):
        Arginine and proline metabolism
    Metabolic pathways
    Biosynthesis of amino acids

    UniProtKB/Swiss-Prot: OTC_HUMAN, P00480
    Pathway: Nitrogen metabolism; urea cycle; L-citrulline from L-ornithine and carbamoyl phosphate: step 1/1


    OTC for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including OTC: 

              Amino Acid Metabolism I in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for OTC

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for OTC (P004803 ENSP000000390074) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H2BCP628073I2D: score=1 
    HIST1H2BEP628073I2D: score=1 
    HIST1H2BFP628073I2D: score=1 
    HIST1H2BGP628073I2D: score=1 
    HIST1H2BIP628073I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000050urea cycle TAS--
    GO:0001889liver development IEA--
    GO:0006520cellular amino acid metabolic process ----
    GO:0006526arginine biosynthetic process IEA--
    GO:0006591ornithine metabolic process ----

    OTC for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for OTC

    3 HMDB Compounds for OTC    About this table
    CompoundSynonyms CAS #PubMed Ids
    Citrulline(2S)-2-amino-5-(carbamoylamino)pentanoic acid (see all 55)372-75-8--
    Ornithine(+)-S-Ornithine (see all 9)70-26-8--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--

    5 DrugBank Compounds for OTC    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Ornithine(S)-2,5-Diaminopentanoate (see all 4)70-26-8target--12399499 16585758 12679340 15766270
    Norvaline-- --target--17139284 17016423 10592235
    2-Amino-Pentanoic Acid-- --target--17139284 17016423
    L-Citrulline2-Amino-5-uredovaleric acid (see all 8)372-75-8target--16585758 10648527
    N-(Phosphonoacetyl)-L-Ornithine-- 63446-55-9target--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for OTC gene (see all 54)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ornithine 97.6 1051 1549234 (6), 2342523 (6), 14607061 (5), 20004862 (5) (see all 99)
    carbamoyl phosphate 91 80 10813810 (3), 11388595 (3), 9540805 (2), 1720458 (2) (see all 44)
    orotic acid 89 18 15174800 (1), 2081192 (1), 1434508 (1), 7773204 (1) (see all 13)
    orotidine 84.9 5 2342523 (2), 10388475 (2), 11117427 (1)
    phenylbutyrate 84.1 3 11286510 (1), 8412748 (1)
    citrulline 81.6 21 17407001 (2), 7797025 (1), 8778603 (1), 18562231 (1) (see all 12)
    benzoate 77 4 1863104 (1), 19000997 (1)
    urea 76 89 17098461 (3), 15050979 (2), 10946359 (2), 20299258 (2) (see all 48)
    allopurinol 69.4 23 15159648 (3), 2342523 (2), 11117427 (2), 10388475 (2) (see all 13)
    norvaline 68.6 7 10813810 (2), 18062991 (1), 11237854 (1)

    3 PharmGKB related drug/compound annotations for OTC gene    About this table
    Drug/compound PharmGKB Annotation
    phenylacetic acid
    sodium benzoate
    valproic acid



    OTC for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for OTC gene: 
    NM_000531.5  

    Unigene Cluster for OTC:

    Ornithine carbamoyltransferase
    Hs.117050  [show with all ESTs]
    Unigene Representative Sequence: NM_000531
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000039007(uc004def.4) ENST00000488812
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat OTC

    Additional mRNA sequence: 

    AK292757.1 BC074745.2 BC107153.1 BC107154.1 BC114496.1 K02100.1 

    2 DOTS entries:

    DT.410164  DT.91668489 

    13 AceView cDNA sequences:

    AI032960 AA677307 BX494966 BX118743 CB158478 AA463601 BX496295 AV682105 
    NM_000531 BC074745 K02100 AA677326 AI023397 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    OTC expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGTCCCTGC
    OTC Expression
    About this image


    OTC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Mature Hepatocytes Liver Lobule
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
    OTC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OTC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.117050

    UniProtKB/Swiss-Prot: OTC_HUMAN, P00480
    Tissue specificity: Mainly expressed in liver and intestinal mucosa

        Pathway & Disease-focused RT2 Profiler PCR Array including OTC: 
              Amino Acid Metabolism I in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OTC

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for OTC gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Otc1 , 5 ornithine transcarbamylase1, 5 88.98(n)1
    92.66(a)1
      X (4.66 cM)5
    184161  NM_008769.31  NP_032795.11 
     102523055 
    chicken
    (Gallus gallus)
    Aves OTC1 ornithine carbamoyltransferase 75.05(n)
    75.14(a)
      395735  NM_204910.1  NP_990241.1 
    lizard
    (Anolis carolinensis)
    Reptilia OTC6
    ornithine carbamoyltransferase
    74(a)
    1 ↔ 1
    3(132459268-132495263)
    African clawed frog
    (Xenopus laevis)
    Amphibia otc-A2 ornithine carbamoyltransferase 76.05(n)    AF134842.1 
    zebrafish
    (Danio rerio)
    Actinopterygii otc1 ornithine carbamoyltransferase 68.5(n)
    72.48(a)
      794667  XM_001334635.3  XP_001334671.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ARG3(YJL088W)4
    ARG31
    Ornithine carbamoyltransferase (carbamoylphosphate:L-ornithine carbamoyltransferase), catalyzes the sixth step in the biosynthesis of the arginine precursor ornithine less4
    ARG31
    52.01(n)1
    42.62(a)1
      10(268799-269815)4
    8533571, 4  NP_012447.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons OTC1 OTC 50.89(n)
    44.97(a)
      843869  NM_106187.3  NP_177667.1 


    ENSEMBL Gene Tree for OTC (if available)
    TreeFam Gene Tree for OTC (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for OTC (see all 1398)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0048804
    Ornithine carbamoyltransferase deficiency (OTCD)4--see VAR_0048802 L F mis40--------
    VAR_0048624
    Ornithine carbamoyltransferase deficiency (OTCD)4--see VAR_0048622 E K mis40--------
    VAR_0048524
    Ornithine carbamoyltransferase deficiency (OTCD)4--see VAR_0048522 N I mis40--------
    VAR_0092334
    Ornithine carbamoyltransferase deficiency (OTCD)4--see VAR_0092332 I F mis40--------
    VAR_0048644
    Ornithine carbamoyltransferase deficiency (OTCD)4--see VAR_0048642 S R mis40--------
    VAR_0048454
    Ornithine carbamoyltransferase deficiency (OTCD)4--see VAR_0048452 R C mis40--------
    VAR_0106094
    Ornithine carbamoyltransferase deficiency (OTCD)4--see VAR_0106092 W L mis40--------
    VAR_0049234
    Ornithine carbamoyltransferase deficiency (OTCD)4--see VAR_0049232 T I mis40--------
    VAR_0049344
    Ornithine carbamoyltransferase deficiency (OTCD)4--see VAR_0049342 C R mis40--------
    VAR_0049384
    Ornithine carbamoyltransferase deficiency (OTCD)4--see VAR_0049382 R L mis40--------

    HapMap Linkage Disequilibrium report for OTC (38211736 - 38280703 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for OTC:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv6867CNV Insertion18451855

    Human Gene Mutation Database (HGMD): OTC
    Locus Specific Mutation Databases (LSDB): OTC

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300461   
    OMIM disorders: 311250  
    UniProtKB/Swiss-Prot: OTC_HUMAN, P00480
  • 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. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • Selected diseases for OTC (see all 76):    
    About MalaCards
    urea cycle disorder    diaper rash    amino acid metabolic disorder    ornithine carbamoyltransferase deficiency
    reye syndrome    miliaria    medium-chain acyl-coenzyme a dehydrogenase deficiency    miliaria rubra
    orotic aciduria    short-chain acyl-coa dehydrogenase deficiency    hyperlysinemia    multiple carboxylase deficiency
    hyperargininemia    acrodermatitis enteropathica    alpha 1-antitrypsin deficiency    enteropathica
    acrodermatitis    citrullinemia    propionic acidemia    crigler-najjar syndrome

    9 diseases from the University of Copenhagen DISEASES database for OTC:
    Ornithine carbamoyltransferase deficiency     Reye syndrome     Carbamoyl phosphate synthetase I deficiency disease     Argininosuccinic aciduria
    X-linked disease     Hyperlysinemia     Diaper rash     Miliaria rubra
    Ornithine translocase deficiency

    OTC for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for OTC gene (see all 66)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ornithine transcarbamylase deficiency 99.5 388 14607061 (5), 20004862 (5), 7797025 (4), 7499756 (4) (see all 99)
    hyperammonemia 95.5 108 1549234 (4), 19225137 (3), 1742044 (2), 11104170 (2) (see all 71)
    orotic aciduria 95 14 18440262 (1), 1456259 (1), 7499756 (1), 8938172 (1) (see all 12)
    ornithine carbamoyltransferase deficiency disease 91.1 5 12974275 (1), 2298453 (1), 12974280 (1), 12974271 (1) (see all 5)
    citrullinemia 85.6 21 18562231 (2), 10869432 (1), 11337324 (1), 15164414 (1) (see all 10)
    carbamoyl phosphate synthetase deficiency 83.4 4 1863104 (1), 20004862 (1), 1720458 (1), 15863597 (1)
    argininosuccinate lyase deficiency 82.8 10 18616627 (2), 10869432 (1), 19217439 (1), 15164414 (1)
    hyperargininemia 77.1 9 20004862 (4), 15798789 (1), 18033025 (1), 7717428 (1) (see all 6)
    aciduria argininosuccinic 74.6 5 18562231 (2), 11148551 (1), 7717428 (1)
    enzyme deficiency 74.5 6 8464164 (1), 16774619 (1), 8099056 (1), 8677801 (1) (see all 5)

    Genatlas disease: OTC
    neonatal distress and hyperammonemia,including late-onset hyperammonemic coma

    Genetic Association Database (GAD): OTC
    Human Genome Epidemiology (HuGE) Navigator: OTC (4 documents)

    Export disorders for OTC gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for OTC gene, integrated from 10 sources (see all 435):
    (articles sorted by number of sources associating them with OTC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH. (PubMed id 19138872)1, 4, 9 Shchelochkov O.A....Wong L.J. (Mol. Genet. Metab. 2009)
    2. Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency. (PubMed id 10502831)1, 2, 9 Climent C.... Rubio V. (Hum. Mutat. 1999)
    3. The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency. (PubMed id 9286441)1, 2, 9 Matsuda I. and Tanase S. (Am. J. Med. Genet. 1997)
    4. Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families. (PubMed id 8830175)1, 2, 9 Yoo H.-W.... Lee D.-H. (J. Inherit. Metab. Dis. 1996)
    5. Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency. (PubMed id 11793483)1, 2, 9 Climent C. and Rubio V. (Hum. Mutat. 2002)
    6. Improved molecular diagnostics for ornithine transcarbamylase deficiency. (PubMed id 1671317)1, 2, 9 Grompe M.... Fenwick R.G. Jr. (Am. J. Hum. Genet. 1991)
    7. Expression, purification and kinetic characterization of wild-type human ornithine transcarbamylase and a recurrent mutant that produces 'late onset' hyperammonaemia. (PubMed id 9065786)1, 2, 9 Morizono H.... Allewell N.M. (Biochem. J. 1997)
    8. Crystal structure of human ornithine transcarbamylase complexed with carbamoyl phosphate and L-norvaline at 1.9 A resolution. (PubMed id 10813810)1, 2, 9 Shi D.... Allewell N.M. (Proteins 2000)
    9. Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency. (PubMed id 9266388)1, 2, 9 Tuchman M.... Allewell N.M. (J. Inherit. Metab. Dis. 1997)
    10. Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms. (PubMed id 8956038)1, 2, 9 Leibundgut E.O.... Liechti-Gallati S. (Hum. Mutat. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5009 HGNC: 8512 AceView: OTC Ensembl:ENSG00000036473 euGenes: HUgn5009
    ECgene: OTC Kegg: 5009 H-InvDB: OTC

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for OTC Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=OTC[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for OTC gene:
    Search GeneIP for patents involving OTC

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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