About   Help   FAQ
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

Protein SuperFamily: ornithine/aspartate carbamoyltransferase
Gene Tree: Otc

Human
homologs
Human Homolog OTC, ornithine carbamoyltransferase
NCBI Gene ID 5009
neXtProt AC  NX_P00480
Human Synonyms  OCTD
Human Chr (Location)  Xp21.1; chrX:38352483-38421450 (+)  GRCh38
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 Using Mouse Otc (1)    Alleles 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: (25 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: (10 records)
Data Summary: Results (121)    Tissues (100)    Images (2)
Theiler Stages: 22, 23, 25, 27, 28
Assay TypeResults
Immunohistochemistry 26
RNA in situ 95
cDNA source data(48)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(67) Genomic(15) cDNA(49) Primer pair(1) Other(2)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000016913 (Evidence)
Ensembl Gene ModelENSMUSG00000031173 (Evidence)
Entrez Gene18416 (Evidence)
UniGene2611
DFCITC1578408, TC1594497
DoTSDT.103560661, DT.534508
NIA Mouse Gene IndexU019700
EC2.1.3.3
Consensus CDS ProjectCCDS30015.1
International Mouse Knockout Project StatusOtc
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(34) RefSeq(2) 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:206703 Palomero-Gallagher N, et al., Neurotransmitter receptor alterations in hepatic encephalopathy: a review. Arch Biochem Biophys. 2013 Aug 15;536(2):109-21
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
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/09/2014
MGI 5.19
The Jackson Laboratory