Gene table of HPRT1 : hypoxanthine phosphoribosyltransferase 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with HPRT1	OMIM link	Number of associated genes	genes
300322	LESCH-NYHAN SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	HPRT1
300323	KELLEY-SEEGMILLER SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	HPRT1

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
Drug metabolism - other enzymes	hsa00983	7.21
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
cation binding	GO:0043169	1.4
hypoxanthine phosphoribosyltransferase activity	GO:0004422	9.05
metal ion binding	GO:0046872	1.41
transferase activity, transferring glycosyl groups	GO:0016757	4.08
organic cyclic compound binding	GO:0097159	1.05
guanine phosphoribosyltransferase activity	GO:0052657	9.74
magnesium ion binding	GO:0000287	4.41
nucleoside phosphate binding	GO:1901265	1.96
ion binding	GO:0043167	1.36
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
transferase activity	GO:0016740	1.95
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
transferase activity, transferring pentosyl groups	GO:0016763	5.7
protein dimerization activity	GO:0046983	2.72
nucleotide binding	GO:0000166	1.96
heterocyclic compound binding	GO:1901363	1.06
identical protein binding	GO:0042802	2.63
protein homodimerization activity	GO:0042803	3.16