Gene table of GNPTAB : N-acetylglucosamine-1-phosphate transferase alpha and beta subunits

Gene-disease associations table

Disease ID	Disease name	Source of annotation with GNPTAB	OMIM link	Number of associated genes	genes
252600	MUCOLIPIDOSIS III ALPHA/BETA	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	GNPTAB
252500	MUCOLIPIDOSIS II ALPHA/BETA	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	GNPTAB
PS607014	MUCOPOLYSACCHARIDOSES	ClinVar	link to OMIM	11	ARSB, SGSH, HYAL1, GALNS, IDUA, NAGLU, GNPTAB, GUSB, GLB1, IDS, HGSNAT

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
Lysosome	hsa04142	5.78

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cation binding	GO:0043169	1.4
calcium ion binding	GO:0005509	3.17
phosphotransferase activity, for other substituted phosphate groups	GO:0016780	6.79
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
ion binding	GO:0043167	1.36
catalytic activity	GO:0003824	1.05
transferase activity	GO:0016740	1.95
UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	GO:0003976	8.64
protein binding	GO:0005515	0.46
metal ion binding	GO:0046872	1.41
binding	GO:0005488	0.18