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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) -
981 Met Ile Developmentalandepilepticencephalopathy53(DEE53) -
1018 Tyr Ser 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 -
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 21.3115 4 yes
GO:0043168 anion binding 21.3115 4 no
GO:0017124 SH3 domain binding 14.7541 4 yes
GO:0016791 phosphatase activity 6.5574 5 yes
GO:0042578 phosphoric ester hydrolase activity 6.5574 4 yes
GO:0004438 phosphatidylinositol-3-phosphate phosphatase activity 3.2787 8 yes
GO:0004439 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity 3.2787 8 yes
GO:0034593 phosphatidylinositol bisphosphate phosphatase activity 3.2787 7 yes
GO:0034595 phosphatidylinositol phosphate 5-phosphatase activity 3.2787 7 yes
GO:0034596 phosphatidylinositol phosphate 4-phosphatase activity 3.2787 7 yes
GO:0043812 phosphatidylinositol-4-phosphate phosphatase activity 3.2787 8 yes
GO:0043813 phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity 3.2787 8 yes
GO:0046030 inositol trisphosphate phosphatase activity 3.2787 7 yes
GO:0052629 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity 3.2787 9 yes
GO:0052658 inositol-1,4,5-trisphosphate 5-phosphatase activity 3.2787 8 yes
GO:0052744 phosphatidylinositol monophosphate phosphatase activity 3.2787 7 yes
GO:0052745 inositol phosphate phosphatase activity 3.2787 6 yes
GO:0052866 phosphatidylinositol phosphate phosphatase activity 3.2787 6 yes
GO:0106018 phosphatidylinositol-3,5-bisphosphate phosphatase activity 3.2787 8 yes
GO:0106019 phosphatidylinositol-4,5-bisphosphate phosphatase activity 3.2787 8 yes

Biological process

Term Name % Distance from top the of the tree Annotated in SYNJ1_HUMAN
GO:0048522 positive regulation of cellular process 54.0984 4 yes
GO:0051128 regulation of cellular component organization 52.4590 4 yes
GO:0048523 negative regulation of cellular process 44.2623 4 no
GO:0060255 regulation of macromolecule metabolic process 44.2623 4 no
GO:0098657 import into cell 42.6230 4 yes
GO:0008104 protein localization 42.6230 4 no
GO:0031323 regulation of cellular metabolic process 42.6230 4 no
GO:0080090 regulation of primary metabolic process 40.9836 4 no
GO:0006996 organelle organization 40.9836 4 no
GO:0022607 cellular component assembly 39.3443 4 yes
GO:0051049 regulation of transport 36.0656 4 no
GO:0010646 regulation of cell communication 36.0656 4 no
GO:0031326 regulation of cellular biosynthetic process 31.1475 5 no
GO:0009889 regulation of biosynthetic process 31.1475 4 no
GO:0010556 regulation of macromolecule biosynthetic process 31.1475 5 no
GO:0051246 regulation of protein metabolic process 29.5082 5 no
GO:0030030 cell projection organization 29.5082 4 no
GO:0009893 positive regulation of metabolic process 29.5082 4 no
GO:0051130 positive regulation of cellular component organization 27.8689 5 yes
GO:0015031 protein transport 27.8689 4 no
GO:0071702 organic substance transport 27.8689 4 no
GO:0071705 nitrogen compound transport 27.8689 4 no
GO:0009966 regulation of signal transduction 27.8689 4 no
GO:0010604 positive regulation of macromolecule metabolic process 27.8689 5 no
GO:0031325 positive regulation of cellular metabolic process 26.2295 5 no
GO:0043933 protein-containing complex organization 26.2295 4 yes
GO:0031344 regulation of cell projection organization 24.5902 5 no
GO:0060627 regulation of vesicle-mediated transport 24.5902 4 no
GO:1902531 regulation of intracellular signal transduction 24.5902 5 no
GO:0006886 intracellular protein transport 24.5902 4 no
GO:0007010 cytoskeleton organization 24.5902 5 no
GO:0010468 regulation of gene expression 24.5902 6 no
GO:0060341 regulation of cellular localization 22.9508 4 no
GO:0120035 regulation of plasma membrane bounded cell projection organization 22.9508 6 no
GO:0120036 plasma membrane bounded cell projection organization 22.9508 5 no
GO:0032880 regulation of protein localization 21.3115 5 no
GO:0045595 regulation of cell differentiation 21.3115 4 no
GO:0050804 modulation of chemical synaptic transmission 21.3115 5 no
GO:0051129 negative regulation of cellular component organization 21.3115 5 no
GO:0099177 regulation of trans-synaptic signaling 21.3115 4 no
GO:0065003 protein-containing complex assembly 21.3115 5 yes
GO:0033043 regulation of organelle organization 19.6721 5 yes
GO:0061024 membrane organization 16.3934 4 yes
GO:0006796 phosphate-containing compound metabolic process 14.7541 4 yes
GO:0010638 positive regulation of organelle organization 14.7541 6 yes
GO:0048488 synaptic vesicle endocytosis 14.7541 5 yes
GO:0050890 cognition 14.7541 4 yes
GO:0140238 presynaptic endocytosis 14.7541 4 yes
GO:0007612 learning 9.8361 4 yes
GO:0051650 establishment of vesicle localization 9.8361 4 yes
GO:0016191 synaptic vesicle uncoating 8.1967 9 yes
GO:0022411 cellular component disassembly 8.1967 4 yes
GO:0032984 protein-containing complex disassembly 8.1967 5 yes
GO:0051261 protein depolymerization 8.1967 6 yes
GO:0072318 clathrin coat disassembly 8.1967 8 yes
GO:0072319 vesicle uncoating 8.1967 7 yes
GO:0016311 dephosphorylation 4.9180 5 yes
GO:0097479 synaptic vesicle localization 4.9180 4 yes
GO:0006644 phospholipid metabolic process 3.2787 4 yes
GO:0006650 glycerophospholipid metabolic process 3.2787 5 yes
GO:0006661 phosphatidylinositol biosynthetic process 3.2787 6 yes
GO:0006836 neurotransmitter transport 3.2787 4 yes
GO:0008610 lipid biosynthetic process 3.2787 4 yes
GO:0008654 phospholipid biosynthetic process 3.2787 5 yes
GO:0019751 polyol metabolic process 3.2787 4 yes
GO:0030258 lipid modification 3.2787 4 yes
GO:0043647 inositol phosphate metabolic process 3.2787 4 yes
GO:0045017 glycerolipid biosynthetic process 3.2787 4 yes
GO:0046474 glycerophospholipid biosynthetic process 3.2787 5 yes
GO:0046486 glycerolipid metabolic process 3.2787 4 yes
GO:0046488 phosphatidylinositol metabolic process 3.2787 6 yes
GO:0046839 phospholipid dephosphorylation 3.2787 5 yes
GO:0046856 phosphatidylinositol dephosphorylation 3.2787 6 yes
GO:0090407 organophosphate biosynthetic process 3.2787 4 yes
GO:1904978 regulation of endosome organization 3.2787 6 yes
GO:1904980 positive regulation of endosome organization 3.2787 7 yes

Disease

No data found.

Uniprot ID Details Highest evidence Localizing into PSD HPA (protein expression in neurons)
FNBP4_HUMAN [view interactions] Low throughput no yes
SRBS2_HUMAN [view entry] [view interactions] Low throughput yes no
PACN1_HUMAN [view entry] [view interactions] Low throughput yes yes
GRB2_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 entry] [view interactions] Low throughput yes 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
1433G_HUMAN [view entry] [view interactions] High throughput yes yes
1433F_HUMAN [view entry] [view interactions] High throughput yes yes
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
BICD1_HUMAN [view interactions] High throughput no yes
NGAP_HUMAN [view entry] [view interactions] High throughput yes yes
SH319_HUMAN [view interactions] High throughput no no
SH3Y1_HUMAN [view interactions] High throughput no yes
SRBS1_HUMAN [view entry] [view interactions] High throughput yes yes
PAX6_HUMAN [view interactions] High throughput no no
FXRD1_HUMAN [view interactions] High throughput no no
1433Z_HUMAN [view entry] [view interactions] High throughput yes yes
TGON2_HUMAN [view entry] [view interactions] High throughput yes yes
FGFR1_HUMAN [view entry] [view interactions] High throughput yes yes
MYO6_HUMAN [view entry] [view interactions] High throughput yes no
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
ZRAN1_HUMAN [view interactions] High throughput no yes
TRI67_HUMAN [view interactions] High throughput no no
TOP3B_HUMAN [view interactions] High throughput no no
PACN3_HUMAN [view interactions] High throughput no yes
PACN2_HUMAN [view entry] [view interactions] High throughput yes no
ADAP1_HUMAN [view interactions] High throughput no yes
CADH1_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
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 entry] [view interactions] High throughput yes 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
ATG9A_HUMAN [view interactions] High throughput no yes
KDM1A_HUMAN [view interactions] High throughput no yes
HDAC1_HUMAN [view interactions] High throughput no no
PF21A_HUMAN [view interactions] High throughput no yes
RCOR1_HUMAN [view interactions] High throughput no yes
WWTR1_HUMAN [view interactions] High throughput no yes