OTC

GENERAL INFORMATION

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Gene name

OTC

Gene description

Ornithine carbamoyltransferase

Protein class

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

Predicted localization

Intracellular

Number of transcripts

1
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Group enriched (duodenum, liver, small intestine)
GTEx:Group enriched (liver, small intestine)

Protein evidence

Evidence at protein level

Protein localization

Granular cytoplasmic expression in hepatocytes, duodenum and small intestine.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining consistent with RNA expression data.

Data reliability

Supportive based on 2 antibodies.
HPA000243 , HPA000570
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Duodenum

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Group enriched (duodenum, liver, small intestine)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (liver, small intestine)

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

5009

UniProt

P00480 (UniProt - Evidence at protein level)

neXtProt

NX_P00480

Antibodypedia

OTC antibodies


PROTEIN BROWSER

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ENST00000039007
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

OTC-001 ENSP00000039007
ENST00000039007
P00480
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