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MGP003723

UniProt Annotations

Entry Information
Gene Namesynaptojanin 1
Protein EntrySYNJ1_HUMAN
UniProt IDO43426
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; Synonyms=Synaptojanin-170; IsoId=O43426-1; Sequence=Displayed; Name=2; Synonyms=Synaptojanin-145; IsoId=O43426-2; Sequence=VSP_002682, VSP_002683; Name=3; IsoId=O43426-4; Sequence=VSP_041578, VSP_002682, VSP_002683; Name=4; IsoId=O43426-5; Sequence=VSP_035709, VSP_035710, VSP_035711;
Catalytic Activity1-phosphatidyl-1D-myo-inositol 4,5- bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate.
DiseaseParkinson 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:0000269|PubMed:23804563, ECO:0000269|PubMed:23804577}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainBinds to EPS15 (a clathrin coat-associated protein) via a C-terminal domain containing three Asn-Pro-Phe (NPF) repeats. {ECO:0000250}.
DomainThe C-terminal proline-rich region mediates binding to a variety of SH3 domain-containing proteins including AMPH, SH3GL1, SH3GL2, SH3GL3 and GRB2.
FunctionInositol 5-phosphatase which has a role in clathrin- mediated endocytosis.
Sequence CautionSequence=BAA74933.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
SimilarityBelongs to the synaptojanin family. {ECO:0000305}.
SimilarityContains 1 RRM (RNA recognition motif) domain. {ECO:0000255|PROSITE-ProRule:PRU00176}.
SimilarityContains 1 SAC domain. {ECO:0000255|PROSITE- ProRule:PRU00183}.
SimilarityIn the central section; belongs to the inositol 1,4,5- trisphosphate 5-phosphatase family. {ECO:0000305}.
Subcellular LocationCytoplasm {ECO:0000250}.
SubunitInteracts with ASH/GRB2. Interacts with PACSIN1, PACSIN2 and PACSIN3 (By similarity). Binds AMPH, SH3GL1, SH3GL2 and SH3GL3. Interacts with MYO1E (via SH3 domain). {ECO:0000250, ECO:0000269|PubMed:10542231, ECO:0000269|PubMed:17257598}.
Tissue SpecificityConcentrated 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.
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