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    OTC ornithine carbamoyltransferase [ Homo sapiens (human) ]

    Gene ID: 5009, updated on 16-Aug-2016
    Official Symbol
    OTCprovided by HGNC
    Official Full Name
    ornithine carbamoyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:8512
    See related
    Ensembl:ENSG00000036473 HPRD:02408; HPRD:08947; MIM:300461; Vega:OTTHUMG00000022727
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OCTD
    Summary
    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]
    Orthologs
    Location:
    Xp21.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (38352483..38421450)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (38211736..38280703)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene sushi repeat containing protein, X-linked Neighboring gene retinitis pigmentosa GTPase regulator Neighboring gene teratocarcinoma-derived growth factor 1 pseudogene 1 Neighboring gene BCL2 associated athanogene 1 pseudogene Neighboring gene ferritin light chain pseudogene 16

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Ornithine carbamoyltransferase deficiency Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-06-28)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-06-28)

    ClinGen Genome Curation Page
    • Arginine biosynthesis, organism-specific biosystem (from KEGG)
      Arginine biosynthesis, organism-specific biosystem
      Arginine biosynthesis
    • Arginine biosynthesis, conserved biosystem (from KEGG)
      Arginine biosynthesis, conserved biosystem
      Arginine biosynthesis
    • Biosynthesis of amino acids, organism-specific biosystem (from KEGG)
      Biosynthesis of amino acids, organism-specific biosystemThis map presents a modular architecture of the biosynthesis pathways of twenty amino acids, which may be viewed as consisting of the core part and its extensions. The core part is the KEGG module fo...
    • Biosynthesis of amino acids, conserved biosystem (from KEGG)
      Biosynthesis of amino acids, conserved biosystemThis map presents a modular architecture of the biosynthesis pathways of twenty amino acids, which may be viewed as consisting of the core part and its extensions. The core part is the KEGG module fo...
    • L-citrulline biosynthesis, conserved biosystem (from BIOCYC)
      L-citrulline biosynthesis, conserved biosystemGeneral Background |FRAME: L-CITRULLINE| is a non-standard amino acid that is not normally incorporated into proteins during protein synthesis. The name citrulline was coined in 1930 from |FRAME:TAX...
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
      Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...
    • Metabolism of polyamines, organism-specific biosystem (from REACTOME)
      Metabolism of polyamines, organism-specific biosystemPolyamines is a family of molecules (i.e. putrescine, spermine, spermidine) derived from ornithine according to a decarboxylation/condensative process. More recently, it has been demonstrated that ar...
    • Urea cycle, organism-specific biosystem (from REACTOME)
      Urea cycle, organism-specific biosystemThe urea cycle yields urea, the major form in which excess nitrogen is excreted from the human body, and the amino acid arginine (Brusilow and Horwich 2001). It consists of four reactions: that of or...
    • Urea cycle, organism-specific biosystem (from KEGG)
      Urea cycle, organism-specific biosystemPathway module; Nucleotide and amino acid metabolism; Arginine and proline metabolism
    • Urea cycle, conserved biosystem (from KEGG)
      Urea cycle, conserved biosystemPathway module; Nucleotide and amino acid metabolism; Arginine and proline metabolism
    • Urea cycle and metabolism of amino groups, organism-specific biosystem (from WikiPathways)
      Urea cycle and metabolism of amino groups, organism-specific biosystem
      Urea cycle and metabolism of amino groups
    • superpathway of L-citrulline metabolism, conserved biosystem (from BIOCYC)
      superpathway of L-citrulline metabolism, conserved biosystemGeneral Background |FRAME: L-CITRULLINE| is a non-standard amino acid that is not normally incorporated into proteins during protein synthesis. The name citrulline was coined in 1930 from |FRAME:TA...
    • urea cycle, organism-specific biosystem (from BIOCYC)
      urea cycle, organism-specific biosystemGeneral Background Most organisms have to deal with the excretion of nitrogen waste originating from protein and amino acid catabolism. In aquatic organisms the most common form of nitrogen waste is...
    • urea cycle, conserved biosystem (from BIOCYC)
      urea cycle, conserved biosystemMost organisms have to deal with the excretion of nitrogen waste originating from protein and amino acid catabolism. In aquatic organisms the most common form of nitrogen waste is ammonia (ammonoteli...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC129967, MGC129968, MGC138856

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    amino acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    ornithine carbamoyltransferase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    ornithine carbamoyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphate ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    phospholipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    ammonia homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    anion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    arginine biosynthetic process via ornithine IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    citrulline biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    liver development IEA
    Inferred from Electronic Annotation
    more info
     
    midgut development IEA
    Inferred from Electronic Annotation
    more info
     
    ornithine catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein homotrimerization IEA
    Inferred from Electronic Annotation
    more info
     
    response to biotin IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to insulin IEA
    Inferred from Electronic Annotation
    more info
     
    response to zinc ion IEA
    Inferred from Electronic Annotation
    more info
     
    urea cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    urea cycle IEA
    Inferred from Electronic Annotation
    more info
     
    urea cycle TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial matrix NAS
    Non-traceable Author Statement
    more info
    PubMed 
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    ornithine carbamoyltransferase, mitochondrial
    Names
    OTCase
    ornithine transcarbamylase
    NP_000522.3

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008471.1 RefSeqGene

      Range
      5001..73968
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000531.5NP_000522.3  ornithine carbamoyltransferase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_000522.3

      Status: REVIEWED

      Source sequence(s)
      AI247721, AK292757, BC107153
      Consensus CDS
      CCDS14247.1
      UniProtKB/Swiss-Prot
      P00480
      Related
      ENSP00000039007, OTTHUMP00000024343, ENST00000039007, OTTHUMT00000059006
      Conserved Domains (3) summary
      PRK00779
      Location:36342
      PRK00779; ornithine carbamoyltransferase; Provisional
      pfam00185
      Location:188341
      OTCace; Aspartate/ornithine carbamoyltransferase, Asp/Orn binding domain
      pfam02729
      Location:41181
      OTCace_N; Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      38352483..38421450
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029556.1XP_016885045.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      38242780..38311752
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)