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synaptojanin 1 OKDB#: 755
 Symbols: SYNJ1 Species: human
 Synonyms: INPP5G,Synaptojanin mRNA  Locus: 21q22.2 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment In the rat, McPherson et al. (1996) found that synaptojanin is a nerve terminal protein of relative molecular mass 145,000 that appears to participate with dynamin in synaptic vesicle recycling. The central region of synaptojanin defines it as a member of the inositol-5-phosphatase family, which includes the product of the gene that is defective in the oculocerebrorenal syndrome of Lowe. Synaptojanin has 5-phosphatase activity, and its N-terminal domain is homologous with the yeast protein Sac1 (Rsd1), which is genetically implicated in phospholipid metabolism and in the function of the actin cytoskeleton. The C terminus, which is of different lengths in adult and developing neurons due to the alternative use of 2 termination sites, is proline-rich, consistent with the reported interaction of synaptojanin with the SH3 domains of GRB2.

NCBI Summary: Synaptojanin 1 is 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.[supplied by RefSeq]
General function Intracellular signaling cascade
Comment
Cellular localization Cytoplasmic
Comment
Ovarian function Unknown
Comment
Expression regulated by
Comment
Ovarian localization
Comment This gene was found in a rat ovarian cDNA library (Unigene)
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Rn&CID=22685
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created: Jan. 31, 2000, midnight by: uni   email:
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last update: July 4, 2011, 7:50 a.m. by: hsueh    email:



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