Gene table of HGSNAT : heparan-alpha-glucosaminide N-acetyltransferase

Gene-disease associations table

Disease IDDisease nameSource of annotation with HGSNATOMIM linkNumber of associated genesgenes
PS268000RETINITIS PIGMENTOSAClinVar, OMIM, HUMSAVAR link to OMIM 69PDE6A, MAK, FSCN2, DHDDS, RHO, RP9, CNGA1, CRB1, SLC7A14, BEST1, CERKL, PRPF3, C8orf37, PROM1, TOPORS, PRPH2, PRCD, SNRNP200, IMPG2, PDE6B, IDH3B, RGR, TTC8, GUCA1B, CDHR1, PANK2, RDH12, BBS2, MERTK, RP1L1, NEK2, USH2A, ZNF408, LRAT, C2orf71, MYO7A, KLHL7, IMPDH1, ZNF513, RP1, NR2E3, PDE6G, ROM1, CYGB, ARL6, NRL, RPGR, PRPF4, RP2, IFT172, HGSNAT, TULP1, CNGB1, KIZ, EYS, OFD1, RPE65, PRPF6, FAM161A, RBP3, IFT140, PRPF8, ABCA4, CLRN1, PRPF31, SAG, CA4, CRX, SEMA4A
PS607014MUCOPOLYSACCHARIDOSESClinVar, OMIM, HUMSAVAR link to OMIM 11ARSB, GLB1, SGSH, GALNS, NAGLU, IDUA, GNPTAB, GUSB, HYAL1, IDS, HGSNAT

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Annotation of the gene 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 pathwayKEGG IDKEGG IC
Metabolic pathwayshsa011002.49
Lysosomehsa041425.78
Glycosaminoglycan degradationhsa005318.45
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Metabolism of carbohydratesR-HSA-713874.93
MucopolysaccharidosesR-HSA-22062819.52
Diseases of carbohydrate metabolismR-HSA-56630848.28
Heparan sulfate/heparin (HS-GAG) metabolismR-HSA-16380917.2
Diseases of metabolismR-HSA-56689146.57
MetabolismR-HSA-14307282.34
Glycosaminoglycan metabolismR-HSA-16303166.04
HS-GAG degradationR-HSA-20240968.52
DiseaseR-HSA-16436853.33
MPS IIIC - Sanfilippo syndrome CR-HSA-220629112.98
Associated GO terms for Molecular function
GO termGO IDGO IC
N-acetyltransferase activityGO:00080805.27
acetyltransferase activityGO:00164075.1
catalytic activityGO:00038241.05
transferase activityGO:00167401.95
transferase activity, transferring acyl groupsGO:00167464.2
transferase activity, transferring acyl groups other than amino-acyl groupsGO:00167474.37
N-acyltransferase activityGO:00164105.08
heparan-alpha-glucosaminide N-acetyltransferase activityGO:00150199.74