OTC

Protein identityUniProt · HPA

UniProt accession

P00480

Gene

OTC

Ensembl

ENSG00000036473

Chromosome

X

Canonical length

354 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Mitochondria

Quaternary structure

Homotrimer

OverviewNCBI Gene

This nuclear gene encodes a mitochondrial matrix enzyme. The encoded protein is involved in the urea cycle which functions to detoxify ammonia into urea for excretion. Mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. [provided by RefSeq, May 2022]

Canonical amino-acid sequenceUniProt

354 residues, UniProt reviewed canonical sequence.

>P00480|OTC
     1  MLFNLRILLN NAAFRNGHNF MVRNFRCGQP LQNKVQLKGR DLLTLKNFTG EEIKYMLWLS
    61  ADLKFRIKQK GEYLPLLQGK SLGMIFEKRS TRTRLSTETG FALLGGHPCF LTTQDIHLGV
   121  NESLTDTARV LSSMADAVLA RVYKQSDLDT LAKEASIPII NGLSDLYHPI QILADYLTLQ
   181  EHYSSLKGLT LSWIGDGNNI LHSIMMSAAK FGMHLQAATP KGYEPDASVT KLAEQYAKEN
   241  GTKLLLTNDP LEAAHGGNVL ITDTWISMGQ EEEKKKRLQA FQGYQVTMKT AKVAASDWTF
   301  LHCLPRKPEE VDDEVFYSPR SLVFPEAENR KWTIMAVMVS LLTDYSPQLQ KPKF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against OTC can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.27

Highest tissue expression

353 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about OTC.

Disease | AllUniProt

Conditions OTC is implicated in, by any mechanism.

• Ornithine carbamoyltransferase deficiency (OTCD) MIM:311250

Disease | GeneticClinVar

444 pathogenic / likely-pathogenic of 1,012 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Ornithine carbamoyltransferase deficiency
• Inborn genetic diseases
• Nonpapillary renal cell carcinoma
• OTC-related disorder
• Thyroid cancer, nonmedullary, 1

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.41

gnomAD pLI

0.87

gnomAD missense Z

1.33

DepMap mean gene effect

0.09

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• ammonium homeostasis
• citrulline biosynthetic process
• L-arginine biosynthetic process via ornithine
• liver development
• midgut development
• monoatomic anion homeostasis
• response to biotin
• response to insulin
• response to xenobiotic stimulus
• response to zinc ion
• urea cycle
• L-ornithine catabolic process

Molecular functions

• amino acid binding
• identical protein binding
• phosphate ion binding
• phospholipid binding
• ornithine carbamoyltransferase activity

Cellular components

• mitochondrial inner membrane
• mitochondrial matrix
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Aspartate/ornithine carbamoyltransferase
• Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain
• Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding
• Aspartate/ornithine carbamoyltransferase superfamily
• Aspartate/ornithine carbamoyltransferase, Asp/Orn binding domain
• Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding domain
• Ornithine/putrescine carbamoyltransferase

KeywordsUniProt

• Acetylation
• Amino-acid biosynthesis
• Arginine biosynthesis
• Mitochondrion
• Phosphoprotein
• Transferase
• Transit peptide
• Urea cycle