syt1 [Search on AGR]
Homo sapiens This gene encodes a member of the synaptotagmin protein family. The synaptotagmins are integral membrane proteins of synaptic vesicles that serve as calcium sensors in the process of vesicular trafficking and exocytosis. The encoded protein participates in triggering neurotransmitter release at the synapse in response to calcium binding. Mutations in this gene are associated with Baker-Gordon syndrome. [provided by RefSeq, Jan 2023]
Rnf216 [Search on AGR]
Rattus norvegicus Predicted to enable ubiquitin protein ligase activity. Involved in protein catabolic process, modulating synaptic transmission and regulation of postsynaptic neurotransmitter receptor internalization. Is active in several cellular components, including Schaffer collateral - CA1 synapse; glutamatergic synapse; and postsynaptic endocytic zone. Human ortholog(s) of this gene implicated in Gordon Holmes syndrome. Orthologous to human RNF216 (ring finger protein 216); INTERACTS WITH acrylamide; bisphenol A; cyclophosphamide.
Sav1 [Search on AGR]
Homo sapiens WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein with two WW domains, a SARAH domain, and a coiled-coil region and is ubiquitously expressed in adult tissues. This protein binds to MST1 (mammalian sterile 20-like kinase 1) and promotes MST1-induced apoptosis. It has also been shown to bind to HAX1 (hematopoietic cell-specific protein 1 (HS1)-associated protein X-1) and to attenuate the anti-apoptotic effects of HAX1. Studies in human and mouse suggest this gene acts as a tumor suppressor. [provided by RefSeq, Aug 2012]