Gene table of PC : pyruvate carboxylase

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PC	OMIM link	Number of associated genes	genes
266150	PYRUVATE CARBOXYLASE DEFICIENCY	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	PC

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Diseases of metabolism	R-HSA-5668914	6.57
Defects in vitamin and cofactor metabolism	R-HSA-3296482	8.52
Metabolism of carbohydrates	R-HSA-71387	4.93
Metabolism of vitamins and cofactors	R-HSA-196854	6.54
Defects in biotin (Btn) metabolism	R-HSA-3323169	9.81
Defective HLCS causes multiple carboxylase deficiency	R-HSA-3371599	9.98
Metabolism	R-HSA-1430728	2.34
Biotin transport and metabolism	R-HSA-196780	9.52
Gluconeogenesis	R-HSA-70263	8.03
Metabolism of water-soluble vitamins and cofactors	R-HSA-196849	6.54
Disease	R-HSA-1643685	3.33
Glucose metabolism	R-HSA-70326	6.77

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
biotin binding	GO:0009374	8.35
ligase activity, forming carbon-carbon bonds	GO:0016885	7.79
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
nucleotide binding	GO:0000166	1.96
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
anion binding	GO:0043168	4.17
cation binding	GO:0043169	1.4
pyruvate carboxylase activity	GO:0004736	9.74
ion binding	GO:0043167	1.36
nucleoside phosphate binding	GO:1901265	1.96
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
metal ion binding	GO:0046872	1.41
ATP binding	GO:0005524	2.43
small molecule binding	GO:0036094	1.89
ligase activity, forming carbon-nitrogen bonds	GO:0016879	5.7
monocarboxylic acid binding	GO:0033293	5.61
ligase activity	GO:0016874	3.72
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
catalytic activity	GO:0003824	1.05
carboxylic acid binding	GO:0031406	4.64
vitamin binding	GO:0019842	5.34
adenyl ribonucleotide binding	GO:0032559	2.41
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
biotin carboxylase activity	GO:0004075	8.13
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19