background:
Synaptotagmins are a large gene family of synaptic vesicle type III integral membrane proteins that function as regulators of both exocytosis and endocytosis and are involved in neurotransmitter secretion from small secretory vesicles. Synaptotagmin XIV, also known as SytXIV, is a 555 amino acid single-pass type III membrane protein belonging to the Synaptotagmin family. With the ability to form heterodimers, Synaptotagmin XIV mainly exists as a homodimer and contains two C2 domains, an N-terminal transmembrane domain and a putative fatty-acylation site. Synaptotagmin XIV is Ca2+-independent and may function in the trafficking and exocytosis of secretory vesicles to tissues outside the brain. Disruption of Synaptotagmin XIV may be affiliated with neurodevelopmental abnormalities. Synaptotagmin XIV exists as six alternatively spliced isoforms and is encoded by a gene on human chromosome 1q32.2.
Function:
May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Is Ca(2+)-independent.
Subunit:
Homodimer. Can also form heterodimers
Subcellular Location:
Membrane; Single-pass type III membraneprotein. Note=Localized in perinuclear and submembranous regions.
Tissue Specificity:
Highly expressed in fetal and adult braintissue.
DISEASE:
Defects in SYT14 are the cause of spinocerebellar ataxiaautosomal recessive type 11 (SCAR11) [MIM:614229]. Spinocerebellarataxia is a clinically and genetically heterogeneous group ofcerebellar disorders. Patients show progressive incoordination ofgait and often poor coordination of hands, speech and eyemovements, due to degeneration of the cerebellum with variableinvolvement of the brainstem and spinal cord. SCAR11 is associatedwith psychomotor retardation.
Similarity:
Belongs to the synaptotagmin family.
Contains 2 C2 domains.
Database links:
UniProtKB/Swiss-Prot: Q8NB59.2
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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