OTC ornithine transcarbamylase [Homo sapiens (human)] - Gene

Summary

Official Symbol: OTCprovided by HGNC
Official Full Name: ornithine transcarbamylaseprovided by HGNC
Primary source: HGNC:HGNC:8512
See related: Ensembl:ENSG00000036473 MIM:300461; AllianceGenome:HGNC:8512
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; OTC1; OTCD; OTCase
Summary: 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]
Expression: Biased expression in liver (RPKM 75.1), duodenum (RPKM 47.8) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: Xp11.4

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (38327684..38422928)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (37731277..37826523)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (38186937..38282181)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Revisiting the Roles of Catalytic Residues in Human Ornithine Transcarbamylase.
Title: Revisiting the Roles of Catalytic Residues in Human Ornithine Transcarbamylase.
Variant analysis and PGT-M of OTC gene in a Chinese family with ornithine carbamoyltransferase deficiency.
Title: Variant analysis and PGT-M of OTC gene in a Chinese family with ornithine carbamoyltransferase deficiency.
[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome].
Title: [Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome].
Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation.
Title: Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation.
The functional impact of 1,570 individual amino acid substitutions in human OTC.
Title: The functional impact of 1,570 individual amino acid substitutions in human OTC.
[Analysis of OTC gene variants in four children with delayed onset Ornithine transcarbamylase deficiency].
Title: [Analysis of OTC gene variants in four children with delayed onset Ornithine transcarbamylase deficiency].
A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia.
Title: A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia.
Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity.
Title: Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity.
OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spf(ash) mice, and govern susceptibility to RNA-based therapies.
Title: OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spf(ash) mice, and govern susceptibility to RNA-based therapies.
Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.
Title: Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.

Submit: New GeneRIF Correction See all GeneRIFs (54)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Ornithine carbamoyltransferase deficiency MedGen: C0268542 OMIM: 311250 GeneReviews: Urea Cycle Disorders Overview, Ornithine Transcarbamylase Deficiency	not available

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2012-06-28) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2012-06-28) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:177412 (e-PCR)
- UniSTS:154893

GDB:177413 (e-PCR)
- UniSTS:154894

GDB:177425 (e-PCR)
- UniSTS:154897

GDB:439386 (e-PCR)
- UniSTS:99613

RH102977 (e-PCR)
- UniSTS:97311

GDB:511285 (e-PCR)
- UniSTS:157500

NoName (e-PCR)
- UniSTS:486728

SHGC-6137 (e-PCR)
- UniSTS:32607

NoName (e-PCR)
- UniSTS:481897

GDB:439377 (e-PCR)
- UniSTS:157293

GDB:439383 (e-PCR)
- UniSTS:157294

GDB:439389 (e-PCR)
- UniSTS:157296

GDB:439392 (e-PCR)
- UniSTS:157297

GDB:439398 (e-PCR)
- UniSTS:157300

GDB:439401 (e-PCR)
- UniSTS:157301

DXS9851 (e-PCR)
- UniSTS:146813

GDB:178410 (e-PCR)
- UniSTS:155006

RH68978 (e-PCR)
- UniSTS:5263

OTC (e-PCR)
- UniSTS:506556

DXS8327 (e-PCR)
- UniSTS:56005

GDB:190001 (e-PCR)
- UniSTS:155605

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in L-arginine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in ammonium homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
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 ornithine catabolic process	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
involved_in urea cycle	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial matrix	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ornithine transcarbamylase, mitochondrial

Names: ornithine carbamoyltransferase, mitochondrial

NP_000522.3

EC 2.1.3.3

NP_001394021.1

EC 2.1.3.3

XP_016885045.1

EC 2.1.3.3

XP_054183120.1

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.