GlyCosmos Portal

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 6** entries
UniProt	Protein Name
Q05CZ1
A0A0D9SGJ6
B9EGN3
J3KQV8
O43426	Synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1
C9JFZ1

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 13 in total

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GO Term	Evidence Code	PMID
membrane organization
synaptic vesicle uncoating	ISS
phosphatidylinositol-3-phosphate biosynthetic process	IEA
phosphatidylinositol biosynthetic process
learning	IMP	18591654

GO Hierarchy

biological process

metabolic process [inference]

biosynthetic process [inference]

cellular biosynthetic process [inference]

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

organic substance 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

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound 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

phosphatidylinositol metabolic process

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol dephosphorylation

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

dephosphorylation [inference]

phospholipid dephosphorylation [inference]

phosphatidylinositol dephosphorylation

inositol phosphate metabolic process

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

phosphatidylinositol metabolic process

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol dephosphorylation

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

inositol phosphate metabolic 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

cellular biosynthetic process [inference]

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

cellular 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

phosphatidylinositol metabolic process

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol dephosphorylation

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

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

phosphatidylinositol metabolic process

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol dephosphorylation

glycerolipid 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]

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

cellular 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

phosphatidylinositol metabolic process

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol dephosphorylation

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

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

phosphatidylinositol metabolic process

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol dephosphorylation

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

small molecule metabolic process [inference]

alcohol metabolic process [inference]

polyol metabolic process [inference]

inositol phosphate metabolic process

organic substance metabolic process [inference]

lipid metabolic 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

cellular 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

phosphatidylinositol metabolic process

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol dephosphorylation

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

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

phosphatidylinositol metabolic process

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol dephosphorylation

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

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

phosphatidylinositol metabolic process

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol dephosphorylation

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

inositol phosphate metabolic 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

organic substance 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

organic hydroxy compound metabolic process [inference]

alcohol metabolic process [inference]

polyol metabolic process [inference]

inositol phosphate metabolic process

cellular process [inference]

vesicle-mediated transport [inference]

endocytosis [inference]

presynaptic endocytosis [inference]

synaptic vesicle endocytosis

vesicle-mediated transport in synapse [inference]

presynaptic endocytosis [inference]

synaptic vesicle endocytosis

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound 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

phosphatidylinositol metabolic process

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol dephosphorylation

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

dephosphorylation [inference]

phospholipid dephosphorylation [inference]

phosphatidylinositol dephosphorylation

inositol phosphate metabolic process

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

phosphatidylinositol metabolic process

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol dephosphorylation

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

inositol phosphate metabolic 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

cellular biosynthetic process [inference]

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

cellular 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

phosphatidylinositol metabolic process

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol dephosphorylation

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

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

phosphatidylinositol metabolic process

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol dephosphorylation

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

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 [inference]

presynaptic endocytosis [inference]

synaptic vesicle endocytosis

vesicle-mediated transport in synapse [inference]

presynaptic endocytosis [inference]

synaptic vesicle endocytosis

synaptic vesicle transport

import into cell [inference]

endocytosis [inference]

presynaptic endocytosis [inference]

synaptic vesicle endocytosis

establishment of localization in cell [inference]

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

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GO Term	Evidence Code	PMID
clathrin coat of coated pit	ISS	9428629
cytosol
terminal bouton	ISS
presynapse	IBA IDA	18093523
microtubule	ISS	9428629

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 entity [inference]

cytosol

membrane [inference]

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 **1 - 5** of 11 in total

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GO Term	Evidence Code	PMID
phosphatidylinositol-3-phosphate phosphatase activity	IDA TAS	18093523
phosphatidylinositol phosphate 5-phosphatase activity	ISS
phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity
inositol-1,4,5-trisphosphate 5-phosphatase activity
phosphatidylinositol-4-phosphate phosphatase activity	IDA	18093523

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity [inference]

hydrolase activity, acting on ester bonds [inference]

phosphoric ester hydrolase activity [inference]

phosphatase activity [inference]

inositol phosphate phosphatase activity [inference]

inositol trisphosphate phosphatase activity [inference]

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

phosphatidylinositol phosphate phosphatase activity [inference]

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 phosphate 5-phosphatase activity

phosphatidylinositol phosphate 4-phosphatase activity

phosphatidylinositol-4-phosphate phosphatase activity

phosphatidylinositol monophosphate phosphatase activity [inference]

binding [inference]

protein binding

protein domain specific binding [inference]

SH3 domain binding

organic cyclic compound binding [inference]

nucleic acid binding [inference]

RNA 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

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 entries **1 - 10** of **128** in total

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DO ID	Disease Name	Source
DOID:0050557	congenital muscular dystrophy	DisGeNET
DOID:0050572	cone-rod dystrophy	DisGeNET
DOID:0050591	tooth agenesis	DisGeNET
DOID:0050709	early infantile epileptic encephalopathy	DisGeNET
DOID:0050777	Joubert syndrome	DisGeNET
DOID:0050841	focal hand dystonia	DisGeNET
DOID:0060249	scoliosis	DisGeNET
DOID:0060255	rippling muscle disease 2	DisGeNET
DOID:0060260	ptosis	DisGeNET
DOID:0060261	congenital ptosis	DisGeNET

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
ORPHA:391411	atypical juvenile parkinsonism early-onset Parkinson disease 20 young-onset Parkinson disease
OMIM:617389	developmental and epileptic encephalopathy, 53
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 entries **1 - 10** of 75 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	178284	WB:WBGene00006763
Drosophila melanogaster	37517	FB:FBgn0034691
Latimeria chalumnae	102367670		LATCH15231
Danio rerio	337236	ZFIN:ZDB-GENE-030131-9180	DANRE00491
Electrophorus electricus	113571772		ELEEL08025
Salmo trutta	115204661		SALTR78206
Oreochromis niloticus	100697157		ORENI03864
Sparus aurata	115594749		SPAAU20565
Xenopus laevis	100380968	Xenbase:XB-GENE-956333
Xenopus laevis	108707879	Xenbase:XB-GENE-17332541

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements