InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SYNJ1

Summary

InnateDB Protein

IDBP-1774.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SYNJ1

Protein Name

synaptojanin 1

Synonyms

INPP5G; PARK20;

Species

Homo sapiens

Ensembl Protein

ENSP00000349903

InnateDB Gene

IDBG-1770 (SYNJ1)

Protein Structure

UniProt Annotation

Function

Inositol 5-phosphatase which has a role in clathrin- mediated endocytosis.

Subcellular Localization

Cytoplasm {ECO:0000250}.

Disease Associations

Parkinson disease 20, early-onset (PARK20) [MIM:615530]: An early-onset form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. PARK20 is characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia. {ECO:0000269PubMed:23804563, ECO:0000269PubMed:23804577}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Concentrated at clathrin-coated endocytic intermediates in nerve terminals. Isoform 1 is more enriched than isoform 2 in developing brain as well as non-neuronal cells. Isoform 2 is very abundant in nerve terminals.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 27 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	27 [view]
Protein-Protein	26 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0003676	nucleic acid binding
GO:0003723	RNA binding
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
GO:0004445	inositol-polyphosphate 5-phosphatase activity
GO:0042578	phosphoric ester hydrolase activity

Biological Process

GO:0006644	phospholipid metabolic process
GO:0006661	phosphatidylinositol biosynthetic process
GO:0006796	phosphate-containing compound metabolic process
GO:0008219	cell death
GO:0043647	inositol phosphate metabolic process
GO:0044281	small molecule metabolic process
GO:0046856	phosphatidylinositol dephosphorylation
GO:0048488	synaptic vesicle endocytosis

Cellular Component

GO:0005829

cytosol

Protein Structure and Domains

PDB ID

InterPro

IPR000300 Inositol polyphosphate-related phosphatase
IPR000504 RNA recognition motif domain
IPR002013 Synaptojanin, N-terminal
IPR005135 Endonuclease/exonuclease/phosphatase
IPR015047 Domain of unknown function DUF1866

PFAM

PF00076
PF02383
PF03372
PF14529
PF08952

PRINTS

PIRSF

SMART

SM00128
SM00360

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O43426