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Gene: SYNJ1 (synaptojanin 1) Homo sapiens
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Symbol: SYNJ1
Name: synaptojanin 1
RGD ID: 69491
Description: Exhibits phosphatidylinositol-3-phosphatase activity; phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity; and phosphatidylinositol-4-phosphate phosphatase activity. Involved in several processes, including phosphatidylinositol dephosphorylation; positive regulation of endosome organization; and synaptic vesicle endocytosis. Localizes to presynapse. Predicted to colocalize with microtubule. Implicated in Parkinson's disease; Parkinson's disease 20; and early infantile epileptic encephalopathy 53.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: EIEE53; inositol 5'-phosphatase (synaptojanin 1); inositol polyphosphate-5-phosphatase G; INPP5G; PARK20; phosphoinositide 5-phosphatase; synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1; synaptic inositol-1,4,5-trisphosphate 5-phosphatase 1; synaptojanin-1; synaptojanin-1, polyphosphoinositide phosphatase
Orthologs:
Mus musculus (house mouse) : Synj1 (synaptojanin 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Synj1 (synaptojanin 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Synj1 (synaptojanin 1)
Pan paniscus (bonobo/pygmy chimpanzee) : SYNJ1 (synaptojanin 1)
Canis lupus familiaris (dog) : SYNJ1 (synaptojanin 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Synj1 (synaptojanin 1)
Sus scrofa (pig) : SYNJ1 (synaptojanin 1)
Chlorocebus sabaeus (African green monkey) : SYNJ1 (synaptojanin 1)
Heterocephalus glaber (naked mole-rat) : Synj1 (synaptojanin 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2132,628,759 - 32,728,048 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl2132,628,759 - 32,728,040 (-)EnsemblGRCh38hg38GRCh38
GRCh382132,628,759 - 32,731,247 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372133,997,269 - 34,100,351 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362132,922,944 - 33,022,148 (-)NCBINCBI36hg18NCBI36
Build 342132,922,943 - 33,022,105NCBI
Celera2119,184,699 - 19,284,009 (-)NCBI
Cytogenetic Map21q22.11NCBI
HuRef2119,410,440 - 19,509,720 (-)NCBIHuRef
CHM1_12133,562,725 - 33,661,992 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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