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OTC

GENERAL INFORMATION

Gene name

 OTC

Gene description

 Ornithine carbamoyltransferase

Protein class

 Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Group enriched (liver, duodenum, small intestine)
GTEx:Group enriched (liver, small intestine)
FANTOM5:Group enriched (small intestine, liver, colon)

Protein evidence

 Evidence at protein level

Protein expression

 Granular cytoplasmic expression in hepatocytes, duodenum and small intestine.

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA000243 , HPA000570
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Duodenum

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (liver, duodenum, small intestine)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (liver, small intestine)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (small intestine, liver, colon)

GENE INFORMATION

Gene name

 OTC

Synonyms

Description

 Ornithine carbamoyltransferase (HGNC Symbol)

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]

Chromosome

 X

Cytoband

 p11.4

Chromosome location (bp)

 38352545 - 38421450

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000036473 (version 83.38)

Entrez gene

 5009

UniProt

 P00480 (UniProt - Evidence at protein level)

neXtProt

 NX_P00480

Antibodypedia

 OTC antibodies

PROTEIN BROWSER
OTC-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
OTC-001
ENSP00000039007
ENST00000039007
P00480 [Direct mapping]
Ornithine carbamoyltransferase, mitochondrial
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Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000050 [urea cycle]
GO:0001889 [liver development]
GO:0004585 [ornithine carbamoyltransferase activity]
GO:0005543 [phospholipid binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0005759 [mitochondrial matrix]
GO:0006520 [cellular amino acid metabolic process]
GO:0006591 [ornithine metabolic process]
GO:0006593 [ornithine catabolic process]
GO:0006595 [polyamine metabolic process]
GO:0007494 [midgut development]
GO:0010043 [response to zinc ion]
GO:0016597 [amino acid binding]
GO:0016743 [carboxyl- or carbamoyltransferase activity]
GO:0019240 [citrulline biosynthetic process]
GO:0031667 [response to nutrient levels]
GO:0032868 [response to insulin]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0042301 [phosphate ion binding]
GO:0042450 [arginine biosynthetic process via ornithine]
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]
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 354 aa
39.9 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.