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OTC ornithine carbamoyltransferase [ Homo sapiens (human) ]

Gene ID: 5009, updated on 1-Jun-2020

Summary

Official Symbol
OTCprovided by HGNC
Official Full Name
ornithine carbamoyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:8512
See related
Ensembl:ENSG00000036473 MIM:300461
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
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]
Expression
Biased expression in liver (RPKM 75.1), duodenum (RPKM 47.8) and 1 other tissue See more
Orthologs

Genomic context

See OTC in Genome Data Viewer
Location:
Xp11.4
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (38352528..38421446)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (38211736..38280703)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene retinitis pigmentosa GTPase regulator Neighboring gene HNF4 motif-containing MPRA enhancer 122 Neighboring gene teratocarcinoma-derived growth factor 1 pseudogene 1 Neighboring gene BAG1 pseudogene 1 Neighboring gene ferritin light chain pseudogene 16

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC129967, MGC129968, MGC138856

Gene Ontology Provided by GOA

Function Evidence Code Pubs
amino acid binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
ornithine carbamoyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ornithine carbamoyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphate ion binding IEA
Inferred from Electronic Annotation
more info
 
phospholipid binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
ammonia homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
anion homeostasis IEA
Inferred from Electronic Annotation
more info
 
arginine biosynthetic process via ornithine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
citrulline biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
citrulline biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
liver development IEA
Inferred from Electronic Annotation
more info
 
midgut development IEA
Inferred from Electronic Annotation
more info
 
ornithine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
response to biotin IEA
Inferred from Electronic Annotation
more info
 
response to insulin IEA
Inferred from Electronic Annotation
more info
 
response to zinc ion IEA
Inferred from Electronic Annotation
more info
 
urea cycle IDA
Inferred from Direct Assay
more info
PubMed 
urea cycle IEA
Inferred from Electronic Annotation
more info
 
urea cycle TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ornithine carbamoyltransferase, mitochondrial
Names
OTCase
ornithine transcarbamylase
NP_000522.3
XP_016885045.1

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

  1. NG_008471.1 RefSeqGene

    Range
    5122..73964
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000531.6NP_000522.3  ornithine carbamoyltransferase, mitochondrial precursor

    See identical proteins and their annotated locations for NP_000522.3

    Status: REVIEWED

    Source sequence(s)
    AI247721, AK292757
    Consensus CDS
    CCDS14247.1
    UniProtKB/Swiss-Prot
    P00480
    Related
    ENSP00000039007.4, ENST00000039007.5
    Conserved Domains (1) summary
    PRK00779
    Location:36342
    PRK00779; ornithine carbamoyltransferase; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    38352528..38421446
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029556.1XP_016885045.1  ornithine carbamoyltransferase, mitochondrial isoform X1

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