Version 5.4
Homo sapiens Gene: OTC
Summary
InnateDB Gene IDBG-56369.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol OTC
Gene Name ornithine carbamoyltransferase
Synonyms OCTD
Species Homo sapiens
Ensembl Gene ENSG00000036473
Encoded Proteins
IDBP-56371
ornithine carbamoyltransferase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:38352545-38421450
Strand Forward strand
Band p11.4
Transcripts
ENST00000039007 ENSP00000039007
ENST00000488812
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 2 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004585 ornithine carbamoyltransferase activity
GO:0005543 phospholipid binding
GO:0016597 amino acid binding
GO:0016743 carboxyl- or carbamoyltransferase activity
GO:0042301 phosphate ion binding
Biological Process
GO:0000050 urea cycle
GO:0001889 liver development
GO:0006520 cellular amino acid metabolic process
GO:0006526 arginine biosynthetic process
GO:0006591 ornithine metabolic process
GO:0006593 ornithine catabolic process
GO:0007494 midgut development
GO:0010043 response to zinc ion
GO:0019240 citrulline biosynthetic process
GO:0031667 response to nutrient levels
GO:0032868 response to insulin
GO:0034641 cellular nitrogen compound metabolic process
GO:0042493 response to drug
GO:0044281 small molecule metabolic process
GO:0055081 anion homeostasis
GO:0070207 protein homotrimerization
GO:0070781 response to biotin
GO:0097272 ammonia homeostasis
Cellular Component
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005759 mitochondrial matrix
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000031173
View Gene Order
ENSBTAG00000001488
Not yet available
Pathways
NETPATH
REACTOME
REACT_847
Urea cycle pathway
REACT_13
Metabolism of amino acids and derivatives pathway
REACT_111217
Metabolism pathway
KEGG
hsa00330
Arginine and proline metabolism pathway
INOH
INOH website
Arginine Proline metabolism pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.117050
RefSeq NM_000531
HUGO
OMIM
CCDS CCDS14247
HPRD 08947
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca