Gene table of APRT : adenine phosphoribosyltransferase

Gene-disease associations table

Disease ID	Disease name	Source of annotation with APRT	OMIM link	Number of associated genes	genes
614723	ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	APRT

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
Purine metabolism	hsa00230	5.28

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
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
transferase activity, transferring pentosyl groups	GO:0016763	5.7
nucleotide binding	GO:0000166	1.96
transferase activity	GO:0016740	1.95
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
adenyl ribonucleotide binding	GO:0032559	2.41
purine nucleobase binding	GO:0002060	8.64
transferase activity, transferring glycosyl groups	GO:0016757	4.08
AMP binding	GO:0016208	7.44
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
purine nucleotide binding	GO:0017076	2.19
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
	GO:0003999	9.74
	GO:0002055	9.74
nucleobase binding	GO:0002054	8.35
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19