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synaptojanin 1

Summary

Gene Symbol

SYNJ1

Aliases

INPP5G
PARK20
inositol polyphosphate-5-phosphatase G
phosphoinositide 5-phosphatase
synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1

Organism

Homo sapiens (human)

External Links

NCBI Gene

8867

HGNC

11503

KEGG Gene ID

hsa:8867

PubChem

8867

Alliance of Genome Resources

HGNC:11503

JoGo

SYNJ1

TogoVar

SYNJ1

Annotation

Keyword

3D-structure
Alternative splicing
Cytoplasm
Disease variant
Endocytosis
Epilepsy
Hydrolase
Lipid metabolism
Methylation
Neurodegeneration
Parkinson disease
Parkinsonism
Phosphoprotein
Proteomics identification
RNA-binding
Reference proteome
Repeat

Proteins

Displaying **all 4** entries
UniProt	Protein Name
A0A0D9SGJ6	Synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1
Q05CZ1
O43426	Synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1
B9EGN3	Synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 23 in total

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GO Term	Evidence Code	PMID
phosphatidylinositol biosynthetic process	TAS
phosphatidylinositol biosynthetic process	IEA
neurotransmitter transport	ISS
endocytosis
learning	IMP

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

phosphorus metabolic process [inference]

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

glycerophospholipid catabolic process [inference]

phosphatidylinositol metabolic process

1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate metabolic process [inference]

1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate catabolic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phospholipid catabolic process [inference]

glycerophospholipid catabolic process [inference]

inositol phosphate metabolic process

organophosphate catabolic process [inference]

phospholipid catabolic process [inference]

glycerophospholipid catabolic process [inference]

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphate-containing compound metabolic process [inference]

dephosphorylation [inference]

phospholipid dephosphorylation [inference]

phosphatidylinositol dephosphorylation

catabolic process [inference]

lipid catabolic process [inference]

phospholipid catabolic process [inference]

glycerophospholipid catabolic process [inference]

glycerolipid catabolic process [inference]

glycerophospholipid catabolic process [inference]

organophosphate catabolic process [inference]

phospholipid catabolic process [inference]

glycerophospholipid catabolic process [inference]

biosynthetic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

glycerophospholipid catabolic process [inference]

phosphatidylinositol metabolic process

1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate metabolic process [inference]

1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate catabolic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phospholipid catabolic process [inference]

glycerophospholipid catabolic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

lipid catabolic process [inference]

phospholipid catabolic process [inference]

glycerophospholipid catabolic process [inference]

glycerolipid catabolic process [inference]

glycerophospholipid catabolic process [inference]

lipid modification [inference]

phospholipid dephosphorylation [inference]

phosphatidylinositol dephosphorylation

glycerolipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

glycerophospholipid catabolic process [inference]

phosphatidylinositol metabolic process

1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate metabolic process [inference]

1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate catabolic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

glycerolipid catabolic process [inference]

glycerophospholipid catabolic process [inference]

small molecule metabolic process [inference]

alcohol metabolic process [inference]

polyol metabolic process [inference]

inositol phosphate metabolic process

vesicle-mediated transport [inference]

endocytosis

presynaptic endocytosis [inference]

synaptic vesicle endocytosis

vesicle-mediated transport in synapse [inference]

presynaptic endocytosis [inference]

synaptic vesicle endocytosis

synaptic vesicle transport

cellular component organization or biogenesis [inference]

cellular component organization [inference]

cellular component disassembly [inference]

protein-containing complex disassembly [inference]

protein depolymerization [inference]

vesicle uncoating [inference]

clathrin coat disassembly [inference]

synaptic vesicle uncoating

cellular component assembly [inference]

protein-containing complex assembly [inference]

synaptic vesicle priming

protein-containing complex organization [inference]

protein-containing complex disassembly [inference]

protein depolymerization [inference]

vesicle uncoating [inference]

clathrin coat disassembly [inference]

synaptic vesicle uncoating

protein-containing complex assembly [inference]

synaptic vesicle priming

membrane organization

exocytic process [inference]

synaptic vesicle priming

multicellular organismal process [inference]

system process [inference]

nervous system process [inference]

cognition [inference]

learning or memory [inference]

learning

behavior [inference]

learning or memory [inference]

learning

localization [inference]

establishment of localization [inference]

transport [inference]

neurotransmitter transport

vesicle-mediated transport [inference]

endocytosis

presynaptic endocytosis [inference]

synaptic vesicle endocytosis

vesicle-mediated transport in synapse [inference]

presynaptic endocytosis [inference]

synaptic vesicle endocytosis

import into cell [inference]

endocytosis

presynaptic endocytosis [inference]

synaptic vesicle endocytosis

establishment of localization in cell [inference]

synaptic vesicle recycling

establishment of vesicle localization [inference]

synaptic vesicle transport

presynaptic endocytosis [inference]

synaptic vesicle endocytosis

establishment of organelle localization [inference]

establishment of vesicle localization [inference]

synaptic vesicle transport

organelle localization [inference]

vesicle localization [inference]

establishment of vesicle localization [inference]

synaptic vesicle transport

synaptic vesicle localization [inference]

synaptic vesicle transport

establishment of organelle localization [inference]

establishment of vesicle localization [inference]

synaptic vesicle transport

biological regulation [inference]

regulation of biological process [inference]

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of cellular component organization [inference]

positive regulation of organelle organization [inference]

positive regulation of endosome organization

regulation of cellular process [inference]

positive regulation of cellular process [inference]

positive regulation of cellular component organization [inference]

positive regulation of organelle organization [inference]

positive regulation of endosome organization

regulation of cellular component organization [inference]

regulation of organelle organization [inference]

positive regulation of organelle organization [inference]

positive regulation of endosome organization

regulation of endosome organization [inference]

positive regulation of endosome organization

positive regulation of cellular component organization [inference]

positive regulation of organelle organization [inference]

positive regulation of endosome organization

Displaying entries **1 - 5** of 17 in total

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GO Term	Evidence Code	PMID
cytoplasm	IBA
cytoplasm	IEA
cytosol	TAS
microtubule	ISS
vesicle membrane	ISS

GO Hierarchy

cellular component

protein-containing complex [inference]

membrane protein complex [inference]

membrane coat

clathrin coat [inference]

clathrin coat of coated pit

plasma membrane protein complex [inference]

clathrin coat of coated pit

cellular anatomical structure [inference]

membrane

organelle membrane [inference]

vesicle membrane

plasma membrane region [inference]

synaptic membrane

perinuclear region of cytoplasm

presynapse

terminal bouton

supramolecular complex [inference]

supramolecular polymer [inference]

supramolecular fiber [inference]

polymeric cytoskeletal fiber [inference]

microtubule

Displaying entries **16 - 20** of 28 in total

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GO Term	Evidence Code	PMID
phosphatidylinositol phosphate 4-phosphatase activity	TAS
phosphatidylinositol-4-phosphate phosphatase activity	IDA
phosphatidylinositol-4-phosphate phosphatase activity	IEA
phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity	TAS
phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	TAS

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity [inference]

hydrolase activity, acting on ester bonds [inference]

phosphoric ester hydrolase activity [inference]

phosphatase activity

inositol phosphate phosphatase activity [inference]

inositol trisphosphate phosphatase activity [inference]

inositol-polyphosphate 5-phosphatase activity [inference]

inositol-1,4,5-trisphosphate 5-phosphatase activity

phosphatidylinositol phosphate phosphatase activity

phosphatidylinositol bisphosphate phosphatase activity [inference]

phosphatidylinositol-3,5-bisphosphate phosphatase activity [inference]

phosphatidylinositol-4,5-bisphosphate phosphatase activity [inference]

phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity

phosphatidylinositol trisphosphate phosphatase activity [inference]

phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity

phosphatidylinositol phosphate 5-phosphatase activity

phosphatidylinositol phosphate 4-phosphatase activity

phosphatidylinositol-4-phosphate phosphatase activity

phosphatidylinositol monophosphate phosphatase activity [inference]

binding [inference]

nucleic acid binding

RNA binding

protein binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000159082

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K20279

Name

synaptojanin [EC:3.1.3.36]

References

Rhea

RHEA:22764

H₂O + a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate)

phosphate + a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate)

Enzyme

3.1.3.36

PMID

Disease

Disease Ontology

Displaying **all 3** entries
DO ID	Disease Name	Source
DOID:0080464	developmental and epileptic encephalopathy 53	Alliance of Genome Resources
DOID:14330	Parkinson's disease	Alliance of Genome Resources
DOID:0060898	Parkinson's disease 20	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of **112** in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000252	Microcephaly
HP:0000338	Hypomimic face
HP:0000348	High forehead
HP:0000494	Downslanted palpebral fissures
HP:0000504	Abnormality of vision
HP:0000505	Visual impairment
HP:0000508	Ptosis
HP:0000546	Retinal degeneration
HP:0000551	Color vision defect

Displaying **all 5** entries
Disease ID	Disease Name
ORPHA:2828	young-onset Parkinson disease
OMIM:617389	developmental and epileptic encephalopathy, 53
ORPHA:391411	atypical juvenile parkinsonism early-onset Parkinson disease 20 young-onset Parkinson disease
ORPHA:442835	developmental and epileptic encephalopathy, 58 developmental delay and seizures with or without movement abnormalities intellectual disability, X-linked, syndromic, Houge type intellectual disability, autosomal dominant 55, with seizures intellectual disability, autosomal dominant 56 undetermined early-onset epileptic encephalopathy
OMIM:615530	early-onset Parkinson disease 20

PubChem Disease

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP002752
Gene Name: synaptojanin 1

Ortholog

Displaying **all 2** entries
Species	Gene ID	Alliance of Genome Resources
Rattus norvegicus	85238	RGD:69434
Saccharomyces cerevisiae S288C	854276	SGD:S000005635

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements