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 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:38211736-38280703 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human OTC

Alleles and phenotypes

All alleles(8) : Targeted(5) Spontaneous(2) Radiation induced(1)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (21 annotations)

Process	anion homeostasis, arginine biosynthetic process, ...
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 (99)    Images (2)
Theiler Stages: 22, 23, 25, 28

Assay Type	Results
Immunohistochemistry	26
RNA in situ	95

cDNA source data(48)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Otc

Sequences

Length	Strain/Species
genomic	OTTMUSG00000016913	VEGA Gene Model | MGI Sequence Detail	68720	C57BL/6J
transcript	OTTMUST00000041039	VEGA | MGI Sequence Detail	2319	Not Applicable
polypeptide	OTTMUSP00000018384	VEGA | MGI Sequence Detail	354	Not Applicable

All sequences(34) RefSeq(2) UniProt(3)

Polymorphisms

All PCR and RFLP(4) : PCR(1) RFLP(3) SNPs(224 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(156)

Other accession IDs

MGD-MRK-13059, MGD-MRK-14367, MGD-MRK-14517, MGI:2147860