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SYNJ1

Chr 21q22.11

synaptojanin 1

Aliases:
INPP5G, PARK20
MANE:
ENST00000674351.1
OMIM: 604297 ↗NCBI: 8867 ↗Ensembl ↗

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Adult onset dystonia, chorea or related movement disorder

    BIALLELIC, autosomal or pseudoautosomal

  • Adult onset neurodegenerative disorder

    BIALLELIC, autosomal or pseudoautosomal

  • Childhood onset dystonia, chorea or related movement disorder

    BIALLELIC, autosomal or pseudoautosomal

  • Early onset dystonia

    BIALLELIC, autosomal or pseudoautosomal

  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

  • Parkinson Disease and Complex Parkinsonism

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • atypical juvenile parkinsonism

    0.73

  • genetic developmental and epileptic encephalopathy

    0.72

  • hereditary disease

    0.50

  • young-onset Parkinson disease

    0.45

  • undetermined early-onset epileptic encephalopathy

    0.39

  • Young adult-onset Parkinsonism

    0.38

  • Spasticity - intellectual disability - X-linked epilepsy

    0.31

  • developmental and epileptic encephalopathy, 1

    0.31

  • Alzheimer disease

    0.10

  • Dravet syndrome

    0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Polyphosphatidylinositol phosphatase SYNJ1

Phosphatase that hydrolyzes phosphate groups from the inositol ring of phosphoinositides and inositol phosphates, in a domain-specific manner (PubMed:10224048, PubMed:18093523, PubMed:23804563, PubMed:27435091, PubMed:33349335, PubMed:40969890). The 5-PPase domain catalyzes removal of the 5-phosphate from substrates such as phosphatidylinositol-4,5-bisphosphate (PtdIns(4,5)P2), phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3), inositol-1,4,5-trisphosphate (Ins(1,4,5)P3) and inositol-1,3,4,5-tetrakisphosphate (Ins(1,3,4,5)P4) (PubMed:18093523, PubMed:23804563, PubMed:27435091, PubMed:33349335, PubMed:40969890). The SAC domain hydrolyzes phosphates at the 3- and 4-positions of the inositol ring, targeting phosphatidylinositol-3-phosphate (PI(3)P), phosphatidylinositol-4-phosphate (PI(4)P), and phosphatidylinositol-3,5-bisphosphate (PI(3,5)P2) (PubMed:10224048, PubMed:18093523, PubMed:23804563, PubMed:27435091). Plays a role in the phosphatidylinositol metabolic process during an unconventional endocytic mechanism, the ultrafast endocytosis where it participates in the rapide neck formation of the newly generated synaptic vesicle through its phosphoinositide 5-phosphatase activity (By similarity). Also, participates in the clathrin uncoating of synaptc vesicle formed via budding from synaptic endosomes after ultrafast endocytosis through combined activity of its phosphatase domains (By similarity). Additionally, regulates actin filament rearrangement by hydrolyzing PIP2 bound to actin regulatory proteins (By similarity)

Diseases associated with SYNJ1

Curated MONDO disease pages that list SYNJ1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.