InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: OTC

Summary

InnateDB Protein

IDBP-56371.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

OTC

Protein Name

ornithine carbamoyltransferase

Synonyms

OCTD;

Species

Homo sapiens

Ensembl Protein

ENSP00000039007

InnateDB Gene

IDBG-56369 (OTC)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Mitochondrion matrix.

Disease Associations

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. {ECO:0000269PubMed:10070627, ECO:0000269PubMed:10502831, ECO:0000269PubMed:10737985, ECO:0000269PubMed:11793483, ECO:0000269PubMed:1480464, ECO:0000269PubMed:1671317, ECO:0000269PubMed:1721894, ECO:0000269PubMed:2347583, ECO:0000269PubMed:2474822, ECO:0000269PubMed:3170748, ECO:0000269PubMed:7474905, ECO:0000269PubMed:7951259, ECO:0000269PubMed:8019569, ECO:0000269PubMed:8081373, ECO:0000269PubMed:8081398, ECO:0000269PubMed:8099056, ECO:0000269PubMed:8530002, ECO:0000269PubMed:8807340, ECO:0000269PubMed:8830175, ECO:0000269PubMed:8956038, ECO:0000269PubMed:8956045, ECO:0000269PubMed:9143919, ECO:0000269PubMed:9266388, ECO:0000269PubMed:9286441, ECO:0000269PubMed:9452024, ECO:0000269PubMed:9452049, ECO:0000269PubMed:9452065, ECO:0000269Ref.29, ECO:0000269Ref.40}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Mainly expressed in liver and intestinal mucosa.

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR002082 Aspartate carbamoyltransferase
IPR002292 Ornithine/putrescine carbamoyltransferase
IPR006130 Aspartate/ornithine carbamoyltransferase
IPR006131 Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain
IPR006132 Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding

PFAM

PF00185
PF02729

PRINTS

PR00101
PR00102
PR00100

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P00480