| Gene Information | |
|---|---|
| Gene Name | OTC |
| Organism | Homo sapiens (Human) |
| Gene Length | 354 |
| Protein Names | Ornithine transcarbamylase, mitochondrial (OTCase) (EC 2.1.3.3) (Ornithine carbamoyltransferase, mitochondrial) |
| Target Name | ornithine transcarbamylase |
| Target Type | Clinical trial target |
| Gene Age | 544 ( ENSG00000036473 ) |
| Evolutionary Stage | Cellular_organisms |
| AlphaFoldDB | P00480 |
| Gene Card | OTC |
| Uniprot ID | P00480 |
| Pfam | PF00185; PF02729 |
| In ASD | no |
| Allosteric Prediction | yes (0.578466024) |
| Ortholog in Animals | Alpaca_ OTC ( ortholog_one2one ) Alpaca_ OTC ( ortholog_one2many ) Dog_ OTC ( ortholog_one2one ) GuineaPig_ OTC ( ortholog_one2one ) Macaque_ OTC ( ortholog_one2one ) Mouse_ Otc ( ortholog_one2one ) Pig_ OTC ( ortholog_one2one ) Rat_ Otc ( ortholog_one2one ) Rabbit_ OTC ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | CAD, CPS1 |
| Tissue | duodenum, liver, small.intestine |
| Tissue Specificity | Mainly expressed in liver and intestinal mucosa. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 1C9Y (X-ray 1.90A ) 1EP9 (X-ray 2.40A ) 1FVO (X-ray 2.60A ) 1OTH (X-ray 1.85A ) |
| DBSNP | rs68031618 rs72554306 rs72554307 rs72554308 rs72554309 rs72554310 rs72554312 rs72554311 rs1800321 rs67939655 rs67486158 rs72554319 rs72554320 rs72554323 rs72554324 rs72554331 rs72554337 rs72554336 rs72554338 rs72554339 rs72554342 rs66550389 rs72554344 rs72554345 rs72554349 rs1133135 rs72554350 rs1800324 rs66539573 rs66539573 rs72554356 rs72554358 rs66656800 rs72556259 rs72556260 rs68026851 rs68026851 rs66741318 rs72556269 rs67954347 rs72556271 rs66626662 rs72556276 rs66867430 rs72556279 rs72556280 rs72556281 rs68033093 rs72556283 rs72556284 rs72556287 rs72556290 rs72556291 rs72556293 rs72556292 rs72556294 rs72556295 rs72556296 rs72556298 rs67294955 rs72556300 rs66642398 rs72556302 rs72556301 rs72558404 rs72558407 rs72558408 rs72558410 rs72558413 rs72558412 rs72558415 rs72558416 rs72558417 rs72558420 rs72558423 rs72558425 rs67120076 rs67120076 rs72558428 rs72558435 rs72558436 rs72558437 rs72558440 rs67333670 rs72558443 rs72558442 rs72558444 rs67156896 rs72558446 rs72558448 rs72558449 rs72558450 rs1800328 rs72558452 rs66724222 rs72558454 rs72558462 rs67993095 rs67870244 rs72558463 rs67468335 rs72558464 rs72558465 rs67501347 rs72558474 rs72558476 rs72558478 rs72558486 rs72558487 rs72558488 rs72558489 rs72558490 rs72558491 rs72558492 rs66469337 rs72558495 |
| Subcellular location [CC] | Mitochondrion matrix {ECO:0000269|PubMed:3895227}. |
| Mouse PG classification | NA |
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