Gene table of HLCS : holocarboxylase synthetase

Gene-disease associations table

Disease ID	Disease name	Source of annotation with HLCS	OMIM link	Number of associated genes	genes
253270	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	HLCS

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Annotation of the gene HLCS

Associated genes in ENSEMBL

ENSG00000159267

Associated proteins - SwissProt Accession ID

P50747

Associated PDB IDs

Cytogenetic Band

21q22.13

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Metabolic pathways	hsa01100	2.49
Biotin metabolism	hsa00780	11.18

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 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
Metabolism of water-soluble vitamins and cofactors	R-HSA-196849	6.54
Disease	R-HSA-1643685	3.33

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
enzyme binding	GO:0019899	2.27
biotin binding	GO:0009374	8.35
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
ion binding	GO:0043167	1.36
biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity	GO:0004080	9.74
biotin-[acetyl-CoA-carboxylase] ligase activity	GO:0004077	9.74
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
identical protein binding	GO:0042802	2.63
protein homodimerization activity	GO:0042803	3.16
biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity	GO:0004079	9.74
nucleoside phosphate binding	GO:1901265	1.96
small molecule binding	GO:0036094	1.89
ligase activity, forming carbon-nitrogen bonds	GO:0016879	5.7
biotin-protein ligase activity	GO:0018271	9.74
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
ATP binding	GO:0005524	2.43
protein binding	GO:0005515	0.46
biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity	GO:0004078	9.74
purine ribonucleotide binding	GO:0032555	2.2
protein dimerization activity	GO:0046983	2.72
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19