Gene table of CTPS1 : CTP synthase 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CTPS1	OMIM link	Number of associated genes	genes
615897	IMMUNODEFICIENCY 24	ClinVar, OMIM	link to OMIM	1	CTPS1

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
Metabolic pathways	hsa01100	2.49
Pyrimidine metabolism	hsa00240	6.01

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Metabolism of nucleotides	R-HSA-15869	6.7
Synthesis and interconversion of nucleotide di- and triphosphates	R-HSA-499943	8.81
Metabolism	R-HSA-1430728	2.34

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
nucleotide binding	GO:0000166	1.96
ligase activity, forming carbon-nitrogen bonds	GO:0016879	5.7
CTP synthase activity	GO:0003883	9.05
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
ATP binding	GO:0005524	2.43
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
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
adenyl ribonucleotide binding	GO:0032559	2.41
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19