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Otc
Gene Detail
Symbol

Name
ID
Otc
ornithine transcarbamylase
MGI:97448
Feature Type
protein coding gene
Genetic Map
Chromosome X
4.66 cM, cytoband A1
Detailed Genetic Map ± 1 cM


Mapping data(48)
Sequence Map
ChrX:10252305-10321024 bp, + strand
From VEGA annotation of GRCm38

  68720 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:446  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: OTC
Protein SuperFamily: ornithine/aspartate carbamoyltransferase
Gene Tree: Otc

Human
homologs
OTC, ornithine carbamoyltransferase
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 5009
neXtProt AC: NX_P00480

Human Synonyms: OCTD

Human Chr (Location): Xp21.1; chrX:38352483-38421450 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human OTC

Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Radiation induced(1) Spontaneous(2) Targeted(5)
 
Hemizygous males and homozygous females for spontaneous mutations exhibit small size, paucity of hair, wrinkled skin, orotic acidurea with bladder stones, hyperammonemia, reduced plasma arginine and citrulline, and loss of brain cholinergic neurons.
 
Human Diseases Modeled in Mice Using Otc (1)    Mutations Annotated to Human Diseases (2)    Phenotype Images(1)
Interactions
Otc interacts with 295 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (29 annotations)
Process ammonia homeostasis, anion homeostasis, ...
Component cytoplasm, mitochondrial inner membrane, ...
Function amino acid binding, carboxyl- or carbamoyltransferase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (11 records)
Data Summary: Results (121)    Tissues (100)    Images (2)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 26
RNA in situ 95
cDNA source data(48)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase otc ; ZFIN otc    NEW 
Molecular
reagents
All nucleic(67) Genomic(15) cDNA(49) Primer pair(1) Other(2)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000016913 (Evidence)
Ensembl Gene Model ENSMUSG00000031173 (Evidence)
Entrez Gene 18416 (Evidence)
UniGene 2611
DFCI TC1578408, TC1594497
DoTS DT.103560661, DT.534508
NIA Mouse Gene Index U019700
EC 2.1.3.3
Consensus CDS Project CCDS30015.1
International Mouse Phenotyping Consortium Status Otc
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016913 VEGA Gene Model | MGI Sequence Detail 68720 C57BL/6J ±  kb
transcript OTTMUST00000041039 VEGA | MGI Sequence Detail 2319 Not Applicable 
polypeptide OTTMUSP00000018384 VEGA | MGI Sequence Detail 354 Not Applicable 

For the selected sequences
All sequences(37) RefSeq(4) UniProt(3)
Polymorphisms
All PCR and RFLP(4) : PCR(1) RFLP(3) SNPs within 2kb(224 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006130 Aspartate/ornithine carbamoyltransferase
InterPro IPR006131 Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain
InterPro IPR006132 Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding
InterPro IPR002292 Ornithine/putrescine carbamoyltransferase
Protein Ontology PR:000012070 ornithine carbamoyltransferase, mitochondrial
References
(Earliest) J:26975 Cupp MB, Sparse-fur, Sf. Mouse News Lett. 1958;19:37
(Latest) J:216177 Labialle S, et al., The miR-379/miR-410 cluster at the imprinted Dlk1-Dio3 domain controls neonatal metabolic adaptation. EMBO J. 2014 Oct 1;33(19):2216-30
All references(158)
Disease annotation references (9)
Other
accession IDs
MGD-MRK-13059, MGD-MRK-14367, MGD-MRK-14517, MGI:2147860

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory