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    OTC ornithine transcarbamylase [ Homo sapiens (human) ]

    Gene ID: 5009, updated on 7-Sep-2023

    Summary

    Official Symbol
    OTCprovided by HGNC
    Official Full Name
    ornithine transcarbamylaseprovided by HGNC
    Primary source
    HGNC:HGNC:8512
    See related
    Ensembl:ENSG00000036473 MIM:300461; AllianceGenome:HGNC:8512
    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; OTC1; OTCD; OTCase
    Summary
    This nuclear gene encodes a mitochondrial matrix enzyme. The encoded protein is involved in the urea cycle which functions to detoxify ammonia into urea for excretion. Mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. [provided by RefSeq, May 2022]
    Expression
    Biased expression in liver (RPKM 75.1), duodenum (RPKM 47.8) and 1 other tissue See more
    Orthologs
    NEW
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    Genomic context

    See OTC in Genome Data Viewer
    Location:
    Xp11.4
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (38327684..38422928)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (37731277..37826523)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (38211857..38280699)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905176 Neighboring gene retinitis pigmentosa GTPase regulator Neighboring gene HNF4 motif-containing MPRA enhancer 122 Neighboring gene CRIPTO pseudogene 1 Neighboring gene BAG1 pseudogene 1 Neighboring gene ferritin light chain pseudogene 16

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC129967, MGC129968, MGC138856

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables amino acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ornithine carbamoyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables ornithine carbamoyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphate ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phospholipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in ammonium homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in arginine biosynthetic process via ornithine IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in citrulline biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in citrulline biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in liver development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in midgut development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monoatomic anion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ornithine catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to biotin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to insulin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to zinc ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in urea cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in urea cycle IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial matrix NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    ornithine transcarbamylase, mitochondrial
    Names
    ornithine carbamoyltransferase, mitochondrial
    NP_000522.3
    NP_001394021.1
    XP_016885045.1
    XP_054183120.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5122..73964
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_846

    mRNA and Protein(s)

    1. NM_000531.6NP_000522.3  ornithine transcarbamylase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_000522.3

      Status: REVIEWED

      Source sequence(s)
      AI247721, AK292757
      Consensus CDS
      CCDS14247.1
      UniProtKB/Swiss-Prot
      A8K9P2, D3DWB0, P00480, Q3KNR1, Q6B0I1, Q9NYJ5
      Related
      ENSP00000039007.4, ENST00000039007.5
      Conserved Domains (1) summary
      PRK00779
      Location:36342
      PRK00779; ornithine carbamoyltransferase; Provisional
    2. NM_001407092.1NP_001394021.1  ornithine transcarbamylase, mitochondrial precursor

      Status: REVIEWED

      Source sequence(s)
      AF241726, AL606748, AL607040
      UniProtKB/Swiss-Prot
      A8K9P2, D3DWB0, P00480, Q3KNR1, Q6B0I1, Q9NYJ5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      38327684..38422928
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029556.2XP_016885045.1  ornithine transcarbamylase, mitochondrial isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      37731277..37826523
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327145.1XP_054183120.1  ornithine transcarbamylase, mitochondrial isoform X1