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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

OTC Gene

protein-coding   GIFtS: 65
GCID: GC0XP038211

Ornithine Carbamoyltransferase

Microbiology & Infectious Diseases Congress
  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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 ornithine carbamoyltransferase deficiency, and among its related super-pathways are Urea cycle and Metabolic pathways. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_079573.4  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for OTC

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: OTC_HUMAN, P00480 (See protein sequence)
Recommended Name: Ornithine carbamoyltransferase, mitochondrial precursor  
Size: 354 amino acids; 39935 Da
Subunit: Homotrimer
Subcellular location: Mitochondrion matrix
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:

  • UniProtKB: Acetylation at Lys-88 negatively regulates ornithine carbamoyltransferase activity in response to nutrient signals
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P00480

  • 4/15 DME Specific Peptides for OTC (P00480) (see all 15)
     TNDPLEA  TDTWISM  KRSTRTR  WIGDGNN 

    OTC Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    OTC Protein Expression
    REFSEQ proteins: NP_000522.3  
    ENSEMBL proteins: 
     ENSP00000039007  
    Reactome Protein details: P00480
    Human Recombinant Protein Products for OTC: 
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    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for OTC
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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 NAS--

    OTC for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004585ornithine carbamoyltransferase activity NAS--
    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  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 - Custom generated mouse model solutions for OTC 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for OTC

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for OTC 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for OTC About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1glutamate degradation X
    urea cycle0.56
    arginine biosynthesis IV0.38
    Urea cycle0.56
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Arginine and proline metabolism
    Arginine and proline metabolism0.35
    Urea cycle and metabolism of amino groups0.35
    4glutamine degradation I
    superpathway of citrulline metabolism0.50
    citrulline biosynthesis0.50
    5proline biosynthesis II (from arginine)
    proline biosynthesis II (from arginine)0.60

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/7 BioSystems Pathways for OTC (see all 7)
        citrulline biosynthesis
    arginine biosynthesis IV
    Urea cycle and metabolism of amino groups
    superpathway of citrulline metabolism
    urea cycle


    3        Reactome Pathways for OTC
        Metabolism
    Metabolism of amino acids and derivatives
    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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for OTC

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    5/44 Interacting proteins for OTC (P004803 ENSP000000390074) via UniProtKB, MINT, STRING, and/or I2D (see all 44)

    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): 5/16 biological process terms (GO ID links to tree view) (see all 16):    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 NAS--
    GO:0006591ornithine metabolic process ----

    OTC for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    OTC for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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

    10/54 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

    Search CenterWatch for drugs/clinical trials and news about OTC

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    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
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000039007(uc004def.4) ENST00000488812 ENST00000487658
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    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:

    BX118743 AI032960 BX494966 AA677307 CB158478 AV682105 BC074745 BX496295 
    AA463601 NM_000531 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    OTC expression in normal human tissues (normalized intensities)      OTC embryonic expression: see
    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 
     5/5 selected tissues (see all 5) fully expand
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 3 entries
             small intestine ; glandular cells   
             small intestine   
     
     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
     
     Colon (Gastrointestinal Tract)
             colon ; glandular cells   
     
     Stomach (Gastrointestinal Tract)
             stomach, lower ; glandular cells   

    See OTC Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for OTC

    SOURCE GeneReport for Unigene cluster: Hs.117050

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

        SABiosciences Expression via Pathway-Focused PCR Array including OTC: 
              Amino Acid Metabolism I in human mouse rat

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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for OTC gene from 7/18 species (see all 18)    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
    Uncharacterized protein
    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 more4
    Arg3p1
    51.79(n)1
    42.62(a)1
      10(268799-269815)4
    8533571, 4  NP_012447.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons OTC1 ornithine carbamoyltransferase 50.61(n)
    44.15(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)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1398 SNPs in OTC are shown (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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing OTC
    DNA2.0 Custom Variant and Variant Library Synthesis for OTC

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/73 diseases for OTC (see all 73):    About MalaCards
    urea cycle disorder    ornithine carbamoyltransferase deficiency    reye syndrome    amino acid metabolic disorder
    diaper rash    miliaria    orotic aciduria    medium-chain acyl-coenzyme a dehydrogenase deficiency
    hyperlysinemia    miliaria rubra    duchenne muscular dystrophy    acrodermatitis enteropathica
    alpha 1-antitrypsin deficiency    multiple carboxylase deficiency    hyperargininemia    citrullinemia
    enteropathica    acrodermatitis    x-linked disease    short-chain acyl-coa dehydrogenase deficiency

    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


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/66 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

    PubMed articles for OTC gene, integrated from 9 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. (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. (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. (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. (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. (2002)
    6. Improved molecular diagnostics for ornithine transcarbamylase deficiency. (PubMed id 1671317)1, 2, 9 Grompe M.... Fenwick R.G. Jr. (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. (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. (2000)
    9. Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency. (PubMed id 9266388)1, 2, 9 Tuchman M.... Allewell N.M. (1997)
    10. Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms. (PubMed id 8956038)1, 2, 9 Leibundgut E.O.... Liechti-Gallati S. (1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5009 HGNC: 8512 AceView: OTC Ensembl:ENSG00000036473 euGenes: HUgn5009
    ECgene: OTC Kegg: 5009 H-InvDB: OTC

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for OTC Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OTC

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