Synaptojanin 1

SYNJ1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1W80, 2DNR, 2VJ0
Identifiers
Aliases	SYNJ1 , INPP5G, PARK20, synaptojanin 1, EIEE53, DEE53
External IDs	OMIM: 604297 MGI: 1354961 HomoloGene: 48252 GeneCards: SYNJ1
Gene location (Human) Chr. Chromosome 21 (human) [1] Band 21q22.11 Start 32,628,759 bp [1] End 32,728,040 bp [1]
Gene location (Mouse) Chr. Chromosome 16 (mouse) [2] Band 16|16 C3.3 Start 90,732,980 bp [2] End 90,808,196 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Brodmann area 23 pons middle temporal gyrus superior frontal gyrus endothelial cell postcentral gyrus superior vestibular nucleus orbitofrontal cortex Region I of hippocampus proper entorhinal cortex Top expressed in pontine nuclei subiculum Region I of hippocampus proper prefrontal cortex medial vestibular nucleus temporal lobe amygdala medial dorsal nucleus facial motor nucleus habenula More reference expression data BioGPS n/a
Gene ontology Molecular function RNA binding nucleic acid binding phosphoric ester hydrolase activity hydrolase activity phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity phosphatidylinositol phosphate 4-phosphatase activity inositol-1,4,5-trisphosphate 5-phosphatase activity phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity phosphatidylinositol-4-phosphate phosphatase activity inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity phosphatidylinositol-3-phosphatase activity phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity phosphatidylinositol phosphate 5-phosphatase activity protein binding SH3 domain binding Cellular component cytoplasm membrane coat vesicle membrane presynapse synaptic membrane clathrin coat of coated pit terminal bouton microtubule perinuclear region of cytoplasm cytosol neuron projection postsynapse Biological process endocytosis phosphatidylinositol metabolic process inositol phosphate metabolic process learning synaptic vesicle uncoating synaptic vesicle priming phosphatidylinositol biosynthetic process synaptic vesicle transport neurotransmitter transport inositol phosphate dephosphorylation phosphatidylinositol dephosphorylation positive regulation of endosome organization phosphatidylinositol-3-phosphate biosynthetic process membrane organization synaptic vesicle endocytosis brain development positive regulation of gliogenesis response to retinoic acid response to cytokine positive regulation of receptor-mediated endocytosis postsynaptic neurotransmitter receptor internalization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8867 104015 Ensembl ENSG00000159082 ENSMUSG00000022973 UniProt O43426 Q8CHC4 RefSeq (mRNA) NM_203446 NM_001160302 NM_001160306 NM_003895 NM_001045515 NM_001164483 RefSeq (protein) NP_001153774 NP_001153778 NP_003886 NP_982271 n/a Location (UCSC) Chr 21: 32.63 – 32.73 Mb Chr 16: 90.73 – 90.81 Mb PubMed search [3] [4]
Wikidata
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Synaptojanin 1 is a protein that in humans is encoded by the SYNJ1 gene. ^[5]

Function

This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking. Multiple transcript variants encoding different isoforms have been found for this gene.

References

1. GRCh38: Ensembl release 89: ENSG00000159082 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000022973 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Synaptojanin 1" . Retrieved 2016-03-13.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.