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OTC ornithine carbamoyltransferase [ Homo sapiens (human) ]

Gene ID: 5009, updated on 10-Apr-2015
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
See OTC in MapViewer
Location:
Xp21.1
Exon count:
10
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 retinitis pigmentosa GTPase regulator Neighboring gene uncharacterized LOC105373173 Neighboring gene teratocarcinoma-derived growth factor 1 pseudogene 1 Neighboring gene BCL2-associated athanogene pseudogene Neighboring gene ferritin, light polypeptide 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 and proline metabolism, organism-specific biosystem (from KEGG)
    Arginine and proline metabolism, organism-specific biosystem
    Arginine and proline metabolism
  • Arginine and proline metabolism, conserved biosystem (from KEGG)
    Arginine and proline metabolism, conserved biosystem
    Arginine and proline metabolism
  • 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...
  • Biosynthesis of antibiotics, organism-specific biosystem (from KEGG)
    Biosynthesis of antibiotics, organism-specific biosystem
    Biosynthesis of antibiotics
  • 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...
  • Urea cycle, organism-specific biosystem (from KEGG)
    Urea cycle, organism-specific biosystemPathway module; Nucleotide and amino acid metabolism; Arginine and proline metabolism
  • 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, 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
  • citrulline biosynthesis, conserved biosystem (from BIOCYC)
    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:TA...
  • superpathway of citrulline metabolism, conserved biosystem (from BIOCYC)
    superpathway of 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
 
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 
arginine biosynthetic process via ornithine IBA
Inferred from Biological aspect of Ancestor
more info
 
cellular nitrogen compound metabolic process TAS
Traceable Author Statement
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
 
small molecule metabolic process TAS
Traceable Author Statement
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
 
Preferred Names
ornithine carbamoyltransferase, mitochondrial
Names
ornithine carbamoyltransferase, mitochondrial
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 proteins identical to 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:187341
    OTCace; Aspartate/ornithine carbamoyltransferase, Asp/Orn binding domain
    pfam02729
    Location:40182
    OTCace_N; Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

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