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SYNJ1_HUMAN

Phosphatase that acts on various phosphoinositides, including phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)-bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate (PubMed). Has a role in clathrin-mediated endocytosis . Hydrolyzes PIP2 bound to actin regulatory proteins resulting in the rearrangement of actin filaments downstream of tyrosine kinase and ASH/GRB2 . [View more on UniProt]

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Position Amino acid Mutation Disease Overlap with binding region
219 Arg Gln Parkinsondisease20,early-onset(PARK20) -
420 Arg Pro Parkinsondisease20,early-onset(PARK20) -
849 Tyr Cys Developmentalandepilepticencephalopathy53(DEE53) -
ELM instance Name Type Start End Partner
ELMI002576 LIG_AP2alpha_2 LIG 1323 1325 -
ELMI002577 LIG_AP2alpha_2 LIG 1555 1557 -
ELMI002578 LIG_EH_1 LIG 1393 1397 -
ELMI002579 LIG_EH_1 LIG 1403 1407 -
ELMI002580 LIG_EH_1 LIG 1414 1418 -

Molecular function

Term Name % Distance from the top of the tree Annotated in SYNJ1_HUMAN
GO:0003723 RNA binding 22.6415 4 yes
GO:0019900 kinase binding 20.7547 4 no
GO:0019901 protein kinase binding 20.7547 5 no
GO:0045296 cadherin binding 20.7547 4 no
GO:0017124 SH3 domain binding 15.0943 4 yes
GO:0016791 phosphatase activity 7.5472 5 yes
GO:0042578 phosphoric ester hydrolase activity 7.5472 4 yes
GO:0004438 phosphatidylinositol-3-phosphatase activity 3.7736 8 yes
GO:0004439 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity 3.7736 8 yes
GO:0034593 phosphatidylinositol bisphosphate phosphatase activity 3.7736 7 yes
GO:0034595 phosphatidylinositol phosphate 5-phosphatase activity 3.7736 7 yes
GO:0034596 phosphatidylinositol phosphate 4-phosphatase activity 3.7736 7 yes
GO:0043812 phosphatidylinositol-4-phosphate phosphatase activity 3.7736 8 yes
GO:0043813 phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity 3.7736 8 yes
GO:0046030 inositol trisphosphate phosphatase activity 3.7736 7 yes
GO:0052629 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity 3.7736 9 yes
GO:0052658 inositol-1,4,5-trisphosphate 5-phosphatase activity 3.7736 8 yes
GO:0052744 phosphatidylinositol monophosphate phosphatase activity 3.7736 7 yes
GO:0052745 inositol phosphate phosphatase activity 3.7736 6 yes
GO:0052866 phosphatidylinositol phosphate phosphatase activity 3.7736 6 yes
GO:0106018 phosphatidylinositol-3,5-bisphosphate phosphatase activity 3.7736 8 yes
GO:0106019 phosphatidylinositol-4,5-bisphosphate phosphatase activity 3.7736 8 yes
GO:1990175 EH domain binding 3.7736 4 yes

Biological process

Term Name % Distance from top the of the tree Annotated in SYNJ1_HUMAN
GO:0048522 positive regulation of cellular process 54.7170 4 yes
GO:0016192 vesicle-mediated transport 52.8302 4 yes
GO:0051128 regulation of cellular component organization 52.8302 4 yes
GO:0008104 protein localization 47.1698 4 no
GO:0006897 endocytosis 47.1698 5 yes
GO:0048523 negative regulation of cellular process 45.2830 4 no
GO:0006996 organelle organization 43.3962 4 no
GO:0022607 cellular component assembly 41.5094 4 yes
GO:0060255 regulation of macromolecule metabolic process 37.7358 4 no
GO:0080090 regulation of primary metabolic process 37.7358 4 no
GO:0031323 regulation of cellular metabolic process 35.8491 4 no
GO:0051171 regulation of nitrogen compound metabolic process 35.8491 4 no
GO:0071702 organic substance transport 33.9623 4 no
GO:0051049 regulation of transport 33.9623 4 yes
GO:0010646 regulation of cell communication 32.0755 4 no
GO:0015031 protein transport 32.0755 4 no
GO:0071705 nitrogen compound transport 32.0755 4 no
GO:0043933 protein-containing complex organization 32.0755 4 yes
GO:0051130 positive regulation of cellular component organization 32.0755 5 yes
GO:0006886 intracellular protein transport 28.3019 4 no
GO:0007010 cytoskeleton organization 28.3019 5 no
GO:0009893 positive regulation of metabolic process 26.4151 4 no
GO:0010468 regulation of gene expression 26.4151 5 no
GO:0030030 cell projection organization 26.4151 4 no
GO:0060627 regulation of vesicle-mediated transport 26.4151 4 yes
GO:0065003 protein-containing complex assembly 26.4151 5 yes
GO:0009889 regulation of biosynthetic process 24.5283 4 no
GO:0010556 regulation of macromolecule biosynthetic process 24.5283 5 no
GO:0010604 positive regulation of macromolecule metabolic process 24.5283 5 no
GO:0051173 positive regulation of nitrogen compound metabolic process 24.5283 5 no
GO:0060341 regulation of cellular localization 24.5283 4 no
GO:0006898 receptor-mediated endocytosis 24.5283 6 no
GO:0009966 regulation of signal transduction 24.5283 4 no
GO:0051246 regulation of protein metabolic process 24.5283 5 no
GO:0033043 regulation of organelle organization 24.5283 5 yes
GO:0031325 positive regulation of cellular metabolic process 22.6415 5 no
GO:0031344 regulation of cell projection organization 22.6415 5 no
GO:0032880 regulation of protein localization 22.6415 5 no
GO:0120036 plasma membrane bounded cell projection organization 22.6415 5 no
GO:1902531 regulation of intracellular signal transduction 22.6415 5 no
GO:0045595 regulation of cell differentiation 22.6415 4 yes
GO:0019219 regulation of nucleobase-containing compound metabolic process 20.7547 5 no
GO:0031326 regulation of cellular biosynthetic process 20.7547 5 no
GO:0051129 negative regulation of cellular component organization 20.7547 5 no
GO:0071310 cellular response to organic substance 20.7547 4 no
GO:0120035 regulation of plasma membrane bounded cell projection organization 20.7547 6 no
GO:0030100 regulation of endocytosis 20.7547 5 yes
GO:0051050 positive regulation of transport 20.7547 4 yes
GO:2000026 regulation of multicellular organismal development 16.9811 4 yes
GO:0010638 positive regulation of organelle organization 16.9811 6 yes
GO:0048488 synaptic vesicle endocytosis 16.9811 5 yes
GO:0050890 cognition 16.9811 4 yes
GO:0051094 positive regulation of developmental process 16.9811 4 yes
GO:0060284 regulation of cell development 16.9811 5 yes
GO:0061024 membrane organization 16.9811 4 yes
GO:0099003 vesicle-mediated transport in synapse 16.9811 5 yes
GO:0140238 presynaptic endocytosis 16.9811 4 yes
GO:0006796 phosphate-containing compound metabolic process 15.0943 4 yes
GO:0050767 regulation of neurogenesis 15.0943 6 yes
GO:0051960 regulation of nervous system development 15.0943 5 yes
GO:0045807 positive regulation of endocytosis 13.2075 5 yes
GO:0051240 positive regulation of multicellular organismal process 13.2075 4 yes
GO:0007612 learning 11.3208 4 yes
GO:0022411 cellular component disassembly 11.3208 4 yes
GO:0045597 positive regulation of cell differentiation 11.3208 5 yes
GO:0051650 establishment of vesicle localization 11.3208 4 yes
GO:0010720 positive regulation of cell development 9.4340 6 yes
GO:0016191 synaptic vesicle uncoating 9.4340 9 yes
GO:0032984 protein-containing complex disassembly 9.4340 5 yes
GO:0048259 regulation of receptor-mediated endocytosis 9.4340 6 yes
GO:0050769 positive regulation of neurogenesis 9.4340 6 yes
GO:0051261 protein depolymerization 9.4340 6 yes
GO:0051962 positive regulation of nervous system development 9.4340 5 yes
GO:0072318 clathrin coat disassembly 9.4340 8 yes
GO:0072319 vesicle uncoating 9.4340 7 yes
GO:0034097 response to cytokine 7.5472 4 yes
GO:0007420 brain development 5.6604 4 yes
GO:0014013 regulation of gliogenesis 5.6604 7 yes
GO:0014015 positive regulation of gliogenesis 5.6604 7 yes
GO:0016311 dephosphorylation 5.6604 5 yes
GO:0033993 response to lipid 5.6604 4 yes
GO:0048260 positive regulation of receptor-mediated endocytosis 5.6604 6 yes
GO:0048489 synaptic vesicle transport 5.6604 4 yes
GO:0097479 synaptic vesicle localization 5.6604 4 yes
GO:1901616 organic hydroxy compound catabolic process 3.7736 4 yes
GO:1904978 regulation of endosome organization 3.7736 6 yes
GO:1904980 positive regulation of endosome organization 3.7736 7 yes
GO:0006644 phospholipid metabolic process 3.7736 4 yes
GO:0006650 glycerophospholipid metabolic process 3.7736 5 yes
GO:0006661 phosphatidylinositol biosynthetic process 3.7736 6 yes
GO:0006836 neurotransmitter transport 3.7736 4 yes
GO:0008610 lipid biosynthetic process 3.7736 4 yes
GO:0008654 phospholipid biosynthetic process 3.7736 4 yes
GO:0019751 polyol metabolic process 3.7736 4 yes
GO:0030258 lipid modification 3.7736 4 yes
GO:0032526 response to retinoic acid 3.7736 4 yes
GO:0043647 inositol phosphate metabolic process 3.7736 4 yes
GO:0045017 glycerolipid biosynthetic process 3.7736 4 yes
GO:0046164 alcohol catabolic process 3.7736 4 yes
GO:0046174 polyol catabolic process 3.7736 5 yes
GO:0046434 organophosphate catabolic process 3.7736 4 yes
GO:0046474 glycerophospholipid biosynthetic process 3.7736 5 yes
GO:0046486 glycerolipid metabolic process 3.7736 4 yes
GO:0046488 phosphatidylinositol metabolic process 3.7736 6 yes
GO:0046838 phosphorylated carbohydrate dephosphorylation 3.7736 4 yes
GO:0046839 phospholipid dephosphorylation 3.7736 5 yes
GO:0046855 inositol phosphate dephosphorylation 3.7736 5 yes
GO:0046856 phosphatidylinositol dephosphorylation 3.7736 6 yes
GO:0071545 inositol phosphate catabolic process 3.7736 5 yes
GO:0090407 organophosphate biosynthetic process 3.7736 4 yes

Disease

Term Name % Distance from top the of the tree Annotated in SYNJ1_HUMAN
DOID:0050701 electroclinical syndrome 3.7736 6 yes
DOID:0050890 synucleinopathy 3.7736 5 yes
DOID:0060894 early-onset Parkinsons disease 3.7736 7 yes
DOID:0060898 Parkinsons disease 20 3.7736 8 yes
DOID:0080464 developmental and epileptic encephalopathy 53 3.7736 8 yes
DOID:0112202 developmental and epileptic encephalopathy 3.7736 7 yes
DOID:1289 neurodegenerative disease 3.7736 4 yes
DOID:14330 Parkinsons disease 3.7736 6 yes
DOID:1826 epilepsy 3.7736 5 yes
DOID:331 central nervous system disease 3.7736 3 yes
DOID:936 brain disease 3.7736 4 yes
Uniprot ID Details Highest evidence Localizing into PSD HPA (protein expression in neurons)
SRBS2_HUMAN [view entry] [view interactions] Low throughput yes no
FNBP4_HUMAN [view interactions] Low throughput no yes
GRB2_HUMAN [view entry] [view interactions] Low throughput yes yes
PACN1_HUMAN [view entry] [view interactions] Low throughput yes yes
SH3G2_HUMAN [view entry] [view interactions] Low throughput yes yes
AMPH_HUMAN [view entry] [view interactions] Low throughput yes yes
SH3G1_HUMAN [view entry] [view interactions] Low throughput yes no
SNX9_HUMAN [view entry] [view interactions] Low throughput yes yes
NCK1_HUMAN [view interactions] Low throughput no yes
ABI1_HUMAN [view entry] [view interactions] Low throughput yes yes
SH3G3_HUMAN [view entry] [view interactions] Low throughput yes no
MYO1E_HUMAN [view entry] [view interactions] Low throughput yes yes
SH3K1_HUMAN [view entry] [view interactions] Low throughput yes yes
AP2A2_HUMAN [view entry] [view interactions] Low throughput yes yes
ITSN1_HUMAN [view entry] [view interactions] Low throughput yes yes
LRRK2_HUMAN [view interactions] Low throughput no yes
ACK1_HUMAN [view interactions] Low throughput no yes
CDK5_HUMAN [view entry] [view interactions] Low throughput yes yes
PP2BA_HUMAN [view entry] [view interactions] Low throughput yes yes
BIN1_HUMAN [view entry] [view interactions] Low throughput yes yes
AP2M1_HUMAN [view entry] [view interactions] Low throughput yes yes
EPS15_HUMAN [view entry] [view interactions] Low throughput yes yes
AP2A1_HUMAN [view entry] [view interactions] Low throughput yes yes
CLH1_HUMAN [view entry] [view interactions] Low throughput yes yes
CLCA_HUMAN [view entry] [view interactions] Low throughput yes no
DBNL_HUMAN [view entry] [view interactions] Low throughput yes yes
SYNJ1_HUMAN [view entry] [view interactions] Low throughput yes yes
CD2B2_HUMAN [view interactions] High throughput no yes
ALKB2_HUMAN [view interactions] High throughput no yes
CDC73_HUMAN [view interactions] High throughput no yes
HXA2_HUMAN [view interactions] High throughput no no
TAU_HUMAN [view entry] [view interactions] High throughput yes yes
NECP1_HUMAN [view interactions] High throughput no no
NECP2_HUMAN [view interactions] High throughput no yes
FCHO2_HUMAN [view interactions] High throughput no yes
VATA_HUMAN [view entry] [view interactions] High throughput yes yes
BCAR1_HUMAN [view interactions] High throughput no yes
PKHA7_HUMAN [view interactions] High throughput no yes
SYGP1_HUMAN [view entry] [view interactions] High throughput yes yes
DLG4_HUMAN [view entry] [view interactions] High throughput yes yes
PRIO_HUMAN [view entry] [view interactions] High throughput yes yes
ITM2B_HUMAN [view interactions] High throughput no yes
HDAC4_HUMAN [view interactions] High throughput no yes
1433Z_HUMAN [view entry] [view interactions] High throughput yes yes
TGON2_HUMAN [view interactions] High throughput no yes
FGFR1_HUMAN [view interactions] High throughput no yes
UBC_HUMAN [view entry] [view interactions] High throughput yes yes
GTSE1_HUMAN [view interactions] High throughput no no
REST_HUMAN [view interactions] High throughput no yes
MK01_HUMAN [view entry] [view interactions] High throughput yes yes
MKRN2_HUMAN [view interactions] High throughput no yes
AP2B1_HUMAN [view entry] [view interactions] High throughput yes yes
VINEX_HUMAN [view interactions] High throughput no no
GPM6A_HUMAN [view entry] [view interactions] High throughput yes no
AP1B1_HUMAN [view entry] [view interactions] High throughput yes yes
MAGA9_HUMAN [view interactions] High throughput no no
RBM47_HUMAN [view interactions] High throughput no yes
PAAT_HUMAN [view interactions] High throughput no yes
SNX27_HUMAN [view entry] [view interactions] High throughput yes no
PACN3_HUMAN [view interactions] High throughput no yes
PACN2_HUMAN [view entry] [view interactions] High throughput yes no
CADH1_HUMAN [view entry] [view interactions] High throughput yes no
MYO6_HUMAN [view entry] [view interactions] High throughput yes no
ACTC_HUMAN [view interactions] High throughput no no
DCA15_HUMAN [view interactions] High throughput no no
DC1I1_HUMAN [view entry] [view interactions] High throughput yes yes
DC1L1_HUMAN [view entry] [view interactions] High throughput yes yes
DC1L2_HUMAN [view entry] [view interactions] High throughput yes yes
BICD1_HUMAN [view interactions] High throughput no yes
BICD2_HUMAN [view interactions] High throughput no yes
UNK_HUMAN [view interactions] High throughput no yes
SMAP2_HUMAN [view interactions] High throughput no yes
ANFY1_HUMAN [view entry] [view interactions] High throughput yes yes
CLCB_HUMAN [view entry] [view interactions] High throughput yes yes
EZRI_HUMAN [view entry] [view interactions] High throughput yes no
IMDH2_HUMAN [view interactions] High throughput no yes
RASK_HUMAN [view entry] [view interactions] High throughput yes no
K2C8_HUMAN [view interactions] High throughput no no
LTOR1_HUMAN [view entry] [view interactions] High throughput yes yes
LCK_HUMAN [view entry] [view interactions] High throughput yes no
PROF1_HUMAN [view entry] [view interactions] High throughput yes yes
PERI_HUMAN [view entry] [view interactions] High throughput yes no
SQSTM_HUMAN [view interactions] High throughput no yes
STX6_HUMAN [view interactions] High throughput no yes
STX7_HUMAN [view entry] [view interactions] High throughput yes yes
VASP_HUMAN [view interactions] High throughput no yes
VINC_HUMAN [view entry] [view interactions] High throughput yes no
VIME_HUMAN [view entry] [view interactions] High throughput yes no
NAA40_HUMAN [view interactions] High throughput no no