SYT1 Summary

The synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Calcium binding to synaptotagmin-1 participates in triggering neurotransmitter release at the synapse (Fernandez-Chacon et al., 2001 [PubMed 11242035]).[supplied by OMIM, Jul 2010]

SYT1 Details

Gene Symbol : SYT1

Gene Name : Synaptotagmin 1

Chromosome : CHR 12: 788,639,92-794,520,07

Locus : 12q21.2

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USP15 Summary

This gene encodes a member of the ubiquitin specific protease (USP) family of deubiquitinating enzymes. USP enzymes play critical roles in ubiquitin-dependent processes through polyubiquitin chain disassembly and hydrolysis of ubiquitin-substrate bonds. The encoded protein associates with the COP9 signalosome, and also plays a role in transforming growth factor beta signalling through deubiquitination of receptor-activated SMAD transcription factors. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 2. [provided by RefSeq, Nov 2011]

USP15 Details

Gene Symbol : USP15

Gene Name : Ubiquitin specific peptidase 15

Chromosome : CHR 12: 622,603,39-624,097,20

Locus : 12q14.1

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