Gene table of PSAP : prosaposin

Gene-disease associations table

Disease IDDisease nameSource of annotation with PSAPOMIM linkNumber of associated genesgenes
611722KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCYOMIM link to OMIM 1PSAP
249900METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCYOMIM, HUMSAVAR link to OMIM 1PSAP
610539GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCYOMIM, HUMSAVAR link to OMIM 1PSAP
611721COMBINED SAPOSIN DEFICIENCYClinVar, OMIM link to OMIM 1PSAP

Download the gene annotation in CSV format

Annotation of the gene PSAP

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
Lysosomehsa041425.78
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Glycosphingolipid metabolismR-HSA-16606627.62
Signaling by GPCRR-HSA-3727902.68
Platelet degranulation R-HSA-1146086.68
Class A/1 (Rhodopsin-like receptors)R-HSA-3730764.69
Platelet activation, signaling and aggregationR-HSA-760025.15
Response to elevated platelet cytosolic Ca2+R-HSA-760056.59
Peptide ligand-binding receptorsR-HSA-3752765.41
Sphingolipid metabolismR-HSA-4281576.79
MetabolismR-HSA-14307282.34
Metabolism of lipids and lipoproteinsR-HSA-5568333.79
GPCR ligand bindingR-HSA-5007924.19
HemostasisR-HSA-1095823.98
Signal TransductionR-HSA-1625821.78
Associated GO terms for Molecular function
GO termGO IDGO IC
enzyme regulator activityGO:00302342.85
lipid bindingGO:00082893.26
bindingGO:00054880.18
protein bindingGO:00055150.46
G-protein coupled receptor bindingGO:00016644.18
receptor bindingGO:00051022.43
molecular function regulatorGO:00987722.51
enzyme activator activityGO:00080473.56