Human Gene SYT6 (uc001eev.3) Description and Page Index
Description: Homo sapiens synaptotagmin VI (SYT6), transcript variant 3, mRNA. RefSeq Summary (NM_001270805): The protein encoded by this gene belongs to the synaptotagmin family. Synaptotagmins share a common domain structure that includes a transmembrane domain and a cytoplasmic region composed of 2 C2 domains, and are involved in calcium-dependent exocytosis of synaptic vesicles. This protein has been shown to be a key component of the secretory machinery involved in acrosomal exocytosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011]. Transcript (Including UTRs) Position: hg19 chr1:114,631,914-114,696,472 Size: 64,559 Total Exon Count: 8 Strand: - Coding Region Position: hg19 chr1:114,636,408-114,682,493 Size: 46,086 Coding Exon Count: 6
ID:SYT6_HUMAN DESCRIPTION: RecName: Full=Synaptotagmin-6; AltName: Full=Synaptotagmin VI; Short=SytVI; FUNCTION: May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. May mediate Ca(2+)- regulation of exocytosis in acrosomal reaction in sperm (By similarity). COFACTOR: Binds 3 calcium ions per subunit. The ions are bound to the C2 domains (By similarity). SUBUNIT: Homodimer (isoform 1). Isoform 1 forms heterodimers with SytIII, SytV and SytX. Interacts with STX1A, STX1B and STX2; the interaction is Ca(2+)-dependent. Isoform 2 is not able to form homodimer and heterodimers (By similarity). SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Single-pass membrane protein (By similarity). SUBCELLULAR LOCATION: Isoform 1: Membrane; Single-pass membrane protein (By similarity). Note=Localized predominantly to endoplasmic reticulum (ER) and/or Golgi-like perinuclear compartment (By similarity). SUBCELLULAR LOCATION: Isoform 2: Cytoplasm, cytosol (By similarity). Cell membrane; Peripheral membrane protein (By similarity). SIMILARITY: Belongs to the synaptotagmin family. SIMILARITY: Contains 2 C2 domains.
Genetic Association Studies of Complex Diseases and Disorders
E-Selectin Andrew D Paterson et al. Arteriosclerosis, thrombosis, and vascular biology 2009, Genome-wide association identifies the ABO blood group as a major locus associated with serum levels of soluble E-selectin., Arteriosclerosis, thrombosis, and vascular biology.
ABO is a major locus for serum soluble E-selectin levels. We excluded population stratification, fine-mapped the association to sub-A alleles, and also document association with additional variation in the ABO region.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q5T7P8
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.