LMPD Database

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LMP002752

UniProt Annotations

Entry Information
Gene Namesynaptojanin 1
Protein EntrySYNJ1_HUMAN
UniProt IDQ05CZ1
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
DomainBinds to EPS15 (a clathrin coat-associated protein) via a C-terminal domain containing three Asn-Pro-Phe (NPF) repeats.
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= ;
SimilarityBelongs to the synaptojanin family.
SimilarityContains 1 RRM (RNA recognition motif) domain.
SimilarityContains 1 SAC domain. {ECO
SimilarityIn the central section; belongs to the inositol 1,4,5- trisphosphate 5-phosphatase family.
Subcellular LocationCytoplasm .
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
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.