Gene table of OTC : ornithine carbamoyltransferase

Gene-disease associations table

Disease ID	Disease name	Source of annotation with OTC	OMIM link	Number of associated genes	genes
311250	ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	OTC

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Annotation of the gene OTC

Associated genes in ENSEMBL

ENSG00000036473

Associated proteins - SwissProt Accession ID

P00480

Associated PDB IDs

Cytogenetic Band

Xp11.4

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

PPARGC1A

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Biosynthesis of amino acids	hsa01230	6.58
Metabolic pathways	hsa01100	2.49
Arginine and proline metabolism	hsa00330	6.84

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Urea cycle	R-HSA-70635	9.81
Metabolism of amino acids and derivatives	R-HSA-71291	5.4
Metabolism	R-HSA-1430728	2.34

Associated GO terms for Molecular function

GO term	GO ID	GO IC
anion binding	GO:0043168	4.17
catalytic activity	GO:0003824	1.05
phospholipid binding	GO:0005543	3.91
carboxylic acid binding	GO:0031406	4.64
lipid binding	GO:0008289	3.26
ion binding	GO:0043167	1.36
carboxyl- or carbamoyltransferase activity	GO:0016743	8.64
transferase activity	GO:0016740	1.95
transferase activity, transferring one-carbon groups	GO:0016741	4.3
binding	GO:0005488	0.18
ornithine carbamoyltransferase activity	GO:0004585	9.74
amino acid binding	GO:0016597	5.71
phosphate ion binding	GO:0042301	7.25