Synaptophysin (SYP) Antibody – Mouse Monoclonal

This gene encodes an integral membrane protein of small synaptic vesicles in brain and endocrine cells. The protein also binds cholesterol and is thought to direct targeting of vesicle-associated membrane protein 2 (synaptobrevin) to intracellular compartments. Mutations in this gene are associated with X-linked mental retardation (XLMR). [provided by RefSeq, Aug 2011]

Function: Possibly involved in structural functions as organizing other membrane components or in targeting the vesicles to the plasma membrane. Involved in the regulation of short-term and long-term synaptic plasticity

By similarity.

Subunit structure: Homohexamer or homotetramer. Interacts with SRCIN1. Ref.7

Subcellular location: Cytoplasmic vesicle › secretory vesicle › synaptic vesicle membrane; Multi-pass membrane protein. Cell junction › synapse › synaptosome.

Tissue specificity: Characteristic of a type of small (30-80 nm) neurosecretory vesicles, including presynaptic vesicles, but also vesicles of various neuroendocrine cells of both neuronal and epithelial phenotype.

Domain: The calcium-binding activity is thought to be localized in the cytoplasmic tail of the protein.

Post-translational modification: Ubiquitinated; mediated by SIAH1 or SIAH2 and leading to its subsequent proteasomal degradation

By similarity.

Involvement in disease: Mental retardation, X-linked, SYP-related (MRXSYP) [MIM:300802]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

Sequence similarities: Belongs to the synaptophysin/synaptobrevin family.Contains 1 MARVEL domain.