Gene table of MCCC1 : methylcrotonoyl-CoA carboxylase 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with MCCC1	OMIM link	Number of associated genes	genes
PS210200	METHYLCROTONYLGLYCINURIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	MCCC2, MCCC1

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

KEGG pathway	KEGG ID	KEGG IC
Valine, leucine and isoleucine degradation	hsa00280	7.09
Metabolic pathways	hsa01100	2.49

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 amino acids and derivatives	R-HSA-71291	5.4
Branched-chain amino acid catabolism	R-HSA-70895	8.89
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
Metabolism of vitamins and cofactors	R-HSA-196854	6.54
Metabolism of water-soluble vitamins and cofactors	R-HSA-196849	6.54
Disease	R-HSA-1643685	3.33
Biotin transport and metabolism	R-HSA-196780	9.52

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
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
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
methylcrotonoyl-CoA carboxylase activity	GO:0004485	9.05
small molecule binding	GO:0036094	1.89
ligase activity, forming carbon-nitrogen bonds	GO:0016879	5.7
vitamin binding	GO:0019842	5.34
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
CoA carboxylase activity	GO:0016421	7.95
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