Gene table of SYNJ1 : synaptojanin 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SYNJ1	OMIM link	Number of associated genes	genes
PS168600	PARKINSON DISEASE	ClinVar, OMIM, HUMSAVAR	link to OMIM	30	ATP13A2, FGF20, VPS13C, DNAJC13, ATXN2, PINK1, CHCHD2, ADH1C, UCHL1, GIGYF2, SYNJ1, PODXL, HTRA2, LRRK2, TBP, PARK2, ATXN8OS, SNCAIP, GBA, SNCA, NR4A2, PLA2G6, GLUD2, PARK7, ATXN3, MAPT, DNAJC6, EIF4G1, FBXO7, VPS35

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Annotation of the gene SYNJ1

Associated genes in ENSEMBL

ENSG00000159082

Associated proteins - SwissProt Accession ID

O43426

Associated PDB IDs

Cytogenetic Band

21q22.11

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Inositol phosphate metabolism	hsa00562	6.72
Metabolic pathways	hsa01100	2.49
Phosphatidylinositol signaling system	hsa04070	6.38

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Inositol phosphate metabolism	R-HSA-1483249	7.52
Synthesis of PIPs at the plasma membrane	R-HSA-1660499	7.94
Synthesis of IP3 and IP4 in the cytosol	R-HSA-1855204	8.34
Phospholipid metabolism	R-HSA-1483257	5.83
PI Metabolism	R-HSA-1483255	7.31
Synthesis of IP2, IP, and Ins in the cytosol	R-HSA-1855183	9.52
Metabolism	R-HSA-1430728	2.34
Metabolism of lipids and lipoproteins	R-HSA-556833	3.79

Associated GO terms for Molecular function

GO term	GO ID	GO IC
protein C-terminus binding	GO:0008022	4.5
phosphatase activity	GO:0016791	4.11
phosphatidylinositol-4-phosphate phosphatase activity	GO:0043812	8.64
SH3 domain binding	GO:0017124	4.98
phosphoric ester hydrolase activity	GO:0042578	3.82
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity	GO:0043813	8.35
inositol phosphate phosphatase activity	GO:0052745	6.74
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
inositol-1,4,5-trisphosphate 5-phosphatase activity	GO:0052658	7.95
inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity	GO:0052659	7.54
nucleotide binding	GO:0000166	1.96
protein complex binding	GO:0032403	3.09
hydrolase activity	GO:0016787	1.9
inositol trisphosphate phosphatase activity	GO:0046030	7.34
hydrolase activity, acting on ester bonds	GO:0016788	3.1
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
phosphatidylinositol bisphosphate phosphatase activity	GO:0034593	6.44
phosphatidylinositol phosphate 4-phosphatase activity	GO:0034596	7.54
phosphatidylinositol phosphate 5-phosphatase activity	GO:0034595	7.17
phosphatidylinositol phosphate phosphatase activity	GO:0052866	6.34
organic cyclic compound binding	GO:0097159	1.05
phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	GO:0052629	7.34
phosphatidylinositol monophosphate phosphatase activity	GO:0052744	7.1
phosphatidylinositol-3-phosphatase activity	GO:0004438	7.1
phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	GO:0004439	7.66
RNA binding	GO:0003723	2.36
protein binding	GO:0005515	0.46
inositol tetrakisphosphate phosphatase activity	GO:0052743	7.34
protein domain specific binding	GO:0019904	3.32