OTC ornithine carbamoyltransferase [Homo sapiens] - Gene

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Summary

Official Symbol: OTCprovided by HGNC
Official Full Name: ornithine carbamoyltransferaseprovided by HGNC
Primary source: HGNC:8512
See related: Ensembl:ENSG00000036473; HPRD:02408; HPRD:08947; MIM:300461; Vega:OTTHUMG00000022727
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OCTD; MGC129967; MGC129968; MGC138856
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]

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Genomic context

Location :: Xp21.1

Sequence :: Chromosome: X; NC_000023.10 (38211736..38280703)

See OTC in Epigenomics, MapViewer

Chromosome X - NC_000023.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

carriers of the ornithine transcarbamylase (OTC) mutation are at risk for developing hyperammonemia coma during the postpartum period and at times of metabolic stress.
Title: Hyperammonemic coma in an ornithine transcarbamylase mutation carrier following antepartum corticosteroids.
In patients with a clinical and biochemical presentation of OTCD and negative OTC sequencing, whole genome or targeted chromosomal microarray analysis (CMA) with coverage of the OTC and neighboring genes should be performed as a reflex test.
Title: An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiency.
Mutations in the regulatory regions of OTC can lead to ornithine carbamoyltransferase deficiency and should be included in genetic testing.
Title: Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency.
These results indicate that mutant alleles with late-onset OCT deficiency syndrome have recurrently arisen, have been retained in some populations, and some appear to hvae a common ancestor.
Title: Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations.
OTC rs5963409 polymorphism may be associated with hypertension and coronary vasomotion in males
Title: Association of ornithine transcarbamylase gene polymorphisms with hypertension and coronary artery vasomotion.
the identification of novel disease-causing mutations in Ornithine transcarbamylase deficiency and increases the knowledge on possible mutational mechanisms generating deletions in ornithine transcaramylase.
Title: Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene.
Hypocitrullinemia in expanded newborn screening is not a reliable marker for OTCD.
Title: Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.
The rs5963409 minor allele was weakly but significantly associated with an increased risk of developing AD.
Title: Is the ornithine transcarbamylase gene a genetic determinant of Alzheimer's disease?
our results suggest the involvement of a new pathway in AD brains involving the urea cycle.
Title: Evidence for induction of the ornithine transcarbamylase expression in Alzheimer's disease.
Deletions and gene rearrangements of OTC gene are associated with Ornithine Carbamoyltransferase Deficiency Disease.
Title: High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.

Submit: New GeneRIF Correction See all (24)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Ornithine transcarbamylase deficiency

MIM: 311250

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
P00480	Q15388	TOMM20		HPRD	PubMed
BioGRID:111050	BioGRID:115144	TOMM20		BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
amino acid binding	IEA Inferred from Electronic Annotation more info
ornithine carbamoyltransferase activity	EXP Inferred from Experiment more info
ornithine carbamoyltransferase activity	NAS Non-traceable Author Statement more info
phosphate ion binding	IEA Inferred from Electronic Annotation more info
phospholipid binding	IEA Inferred from Electronic Annotation more info
transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
anion homeostasis	IEA Inferred from Electronic Annotation more info
arginine biosynthetic process	NAS Non-traceable Author Statement more info
cellular amino acid biosynthetic process	IEA Inferred from Electronic Annotation more info
cellular nitrogen compound metabolic process	TAS Traceable Author Statement more info
citrulline biosynthetic process	IEA Inferred from Electronic Annotation more info
liver development	IEA Inferred from Electronic Annotation more info
midgut development	IEA Inferred from Electronic Annotation more info
ornithine metabolic process	EXP Inferred from Experiment more info
ornithine metabolic process	NAS Non-traceable Author Statement more info
protein homotrimerization	IEA Inferred from Electronic Annotation more info
response to biotin	IEA Inferred from Electronic Annotation more info
response to drug	IEA Inferred from Electronic Annotation more info
response to insulin stimulus	IEA Inferred from Electronic Annotation more info
response to nutrient levels	IEA Inferred from Electronic Annotation more info
response to zinc ion	IEA Inferred from Electronic Annotation more info
small molecule metabolic process	TAS Traceable Author Statement more info
urea cycle	NAS Non-traceable Author Statement more info
urea cycle	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cytoplasm	IEA Inferred from Electronic Annotation more info
mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
mitochondrial matrix	NAS Non-traceable Author Statement more info	PubMed
mitochondrial matrix	TAS Traceable Author Statement more info
mitochondrion	IDA Inferred from Direct Assay more info	PubMed
ornithine carbamoyltransferase complex	NAS Non-traceable Author Statement more info

General protein information

Preferred Names: ornithine carbamoyltransferase, mitochondrial

Names: ornithine carbamoyltransferase, mitochondrial; OTCase; ornithine transcarbamylase

NP_000522.3

EC 2.1.3.3

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008471.1 RefSeqGene

Range

5001..73968

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000531.5 → NP_000522.3 ornithine carbamoyltransferase, mitochondrial precursor

Status: REVIEWED

Source sequence(s)

AI247721, AK292757, BC107153

Consensus CDS

CCDS14247.1

UniProtKB/Swiss-Prot

P00480

Related

ENSP00000039007, OTTHUMP00000024343, ENST00000039007, OTTHUMT00000059006

Conserved Domains (3) summary

PRK00779
Location:36 – 342
Blast Score: 1115

PRK00779; ornithine carbamoyltransferase; Provisional

pfam02729
Location:40 – 182
Blast Score: 490

OTCace_N; Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding domain

cl09931
Location:187 – 341
Blast Score: 388

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000023.10 Reference GRCh37.p5 Primary Assembly

Range

38211736..38280703

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000155.1 Alternate HuRef

Range

35956917..36026112

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AF241726.3 (2000..41117)	None
genomic	AL606748.9	CAI95408.1
genomic	AL607040.8	CAI95193.1
genomic	CH471141.2	EAW59439.1
		EAW59440.1
genomic	D00095.1	BAA00058.1
genomic	D00230.2	BAA00161.1
genomic	M11235.1	AAA59976.1
genomic	S73640.1	AAB31859.1
genomic	X04443.1	CAA28039.1
mRNA	AI247721.1	None
mRNA	AK292757.1	BAF85446.1
mRNA	BC074745.2	AAH74745.1
mRNA	BC107153.1	AAI07154.1
mRNA	BC107154.1	AAI07155.1
mRNA	BC114496.1	AAI14497.1
mRNA	BX118743.1	None
mRNA	BX494966.1	None
mRNA	CB158478.1	None
mRNA	K02100.1	AAA59975.1