Otc ornithine transcarbamylase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Otcprovided by MGI
Official Full Name: ornithine transcarbamylaseprovided by MGI
Primary source: MGI:MGI:97448
See related: Ensembl:ENSMUSG00000031173 AllianceGenome:MGI:97448
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Sf; spf
Summary: Predicted to enable several functions, including identical protein binding activity; ornithine carbamoyltransferase activity; and phosphate ion binding activity. Predicted to be involved in several processes, including ammonium homeostasis; non-proteinogenic amino acid metabolic process; and urea cycle. Located in mitochondrial inner membrane. Is expressed in alimentary system; intestine; intrahepatic bile duct epithelium; liver; and small intestine. Used to study ornithine carbamoyltransferase deficiency. Human ortholog(s) of this gene implicated in ornithine carbamoyltransferase deficiency. Orthologous to human OTC (ornithine transcarbamylase). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in liver adult (RPKM 25.6), liver E18 (RPKM 13.3) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: X A1.1; X 4.66 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (10118584..10187275)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (10252230..10321024)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective spf/ash Mouse Model of Ornithine Transcarbamylase Deficiency.
Title: An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective spf/ash Mouse Model of Ornithine Transcarbamylase Deficiency.
Gene correction in adult OTC-deficient mice was lower and accompanied by larger deletions that ablated residual expression from the endogenous OTC gene, leading to diminished protein tolerance and lethal hyperammonemia on a chow diet
Title: A dual AAV system enables the Cas9-mediated correction of a metabolic liver disease in newborn mice.
The corresponding OTC tissue enzyme activities were between 3-6% of normal control in mouse and human liver. The use of the cryptic splice sites was reproduced in minigenes carrying murine or human mutant sequences
Title: Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.
Serum OCT seemed to reflect tumor necrosis factor-alpha-mediated hepatic damage in diabetic obese mice and could be useful in the application for non-alcoholic fatty liver disease with features of metabolic syndrome, such as obesity and diabetes.
Title: Serum ornithine carbamyltransferase reflects hepatic damage in diabetic obese mice.
Lysine 88 acetylation negatively regulates ornithine carbamoyltransferase activity in response to nutrient signals.
Title: Lysine 88 acetylation negatively regulates ornithine carbamoyltransferase activity in response to nutrient signals.
Phenotypic correction of OTC deficiency using low-dose helper-dependent adenoviral vectors is reported.
Title: Phenotypic correction of ornithine transcarbamylase deficiency using low dose helper-dependent adenoviral vectors.
Results highlight the importance of the interaction between the OTC spf-ash mutation (ornithine transcarbamylase deficiency) and genetic backgrounds on metabolic phenotypes (ureagenesis, arginine metabolism, and nitric oxide production).
Title: Interaction between murine spf-ash mutation and genetic background yields different metabolic phenotypes.
in vivo regulation by HNF4alpha
Title: Defective ureagenesis in mice carrying a liver-specific disruption of hepatocyte nuclear factor 4alpha (HNF4alpha ). HNF4alpha regulates ornithine transcarbamylase in vivo.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5)
Radiation induced (1)
Spontaneous (2) 1 citation
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI265390 (e-PCR)
- UniSTS:181270

px-36b3 (e-PCR)
- UniSTS:257651

px-56a5 (e-PCR)
- UniSTS:257926

Otc (e-PCR), detects polymorphism
- UniSTS:144099

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables amino acid binding	IEA Inferred from Electronic Annotation more info
enables amino acid binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables ornithine carbamoyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ornithine carbamoyltransferase activity	IEA Inferred from Electronic Annotation more info
enables ornithine carbamoyltransferase activity	ISO Inferred from Sequence Orthology more info
enables phosphate ion binding	IEA Inferred from Electronic Annotation more info
enables phosphate ion binding	ISO Inferred from Sequence Orthology more info
enables phospholipid binding	IEA Inferred from Electronic Annotation more info
enables phospholipid binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in L-arginine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in ammonium homeostasis	IEA Inferred from Electronic Annotation more info
involved_in ammonium homeostasis	ISO Inferred from Sequence Orthology more info
involved_in arginine biosynthetic process via ornithine	IBA Inferred from Biological aspect of Ancestor more info
involved_in citrulline biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in citrulline biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in citrulline biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in liver development	IEA Inferred from Electronic Annotation more info
involved_in midgut development	IEA Inferred from Electronic Annotation more info
involved_in monoatomic anion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in monoatomic anion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in ornithine catabolic process	IEA Inferred from Electronic Annotation more info
involved_in ornithine catabolic process	ISO Inferred from Sequence Orthology more info
involved_in ornithine metabolic process	ISO Inferred from Sequence Orthology more info
involved_in response to biotin	IEA Inferred from Electronic Annotation more info
involved_in response to insulin	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in response to zinc ion	IEA Inferred from Electronic Annotation more info
involved_in urea cycle	IEA Inferred from Electronic Annotation more info
involved_in urea cycle	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	HDA more info	PubMed
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: ornithine transcarbamylase, mitochondrial

Names: OTCase; ornithine carbamoyltransferase, mitochondrial

NP_001398604.1

EC 2.1.3.3

NP_001398605.1

EC 2.1.3.3

NP_001398606.1

EC 2.1.3.3

NP_032795.1

EC 2.1.3.3

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001411675.1 → NP_001398604.1 ornithine transcarbamylase, mitochondrial isoform 2

Status: VALIDATED

Source sequence(s)

AL671042

UniProtKB/TrEMBL

Q8R1A8

Related

ENSMUSP00000111190.3, ENSMUST00000115528.3
NM_001411676.1 → NP_001398605.1 ornithine transcarbamylase, mitochondrial isoform 3

Status: VALIDATED

Source sequence(s)

AL671042
NM_001411677.1 → NP_001398606.1 ornithine transcarbamylase, mitochondrial isoform 4

Status: VALIDATED

Source sequence(s)

AL671042
NM_008769.5 → NP_032795.1 ornithine transcarbamylase, mitochondrial isoform 1 precursor

See identical proteins and their annotated locations for NP_032795.1

Status: VALIDATED

Source sequence(s)

AL671042

Consensus CDS

CCDS30015.1

UniProtKB/Swiss-Prot

P11725

UniProtKB/TrEMBL

Q543H3

Related

ENSMUSP00000056152.7, ENSMUST00000049910.13

Conserved Domains (3) summary

PRK00779
Location:36 → 342

PRK00779; ornithine carbamoyltransferase; Provisional

pfam00185
Location:188 → 341

OTCace; Aspartate/ornithine carbamoyltransferase, Asp/Orn binding domain

pfam02729
Location:41 → 181

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