SYT14

This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate membrane trafficking in synaptic transmission. The encoded protein is a calcium-independent synaptotagmin. Mutations in this gene are a cause of autosomal recessive spinocerebellar ataxia-11 (SCAR11), and a t(1;3) translocation of this gene has been associated with neurodevelopmental abnormalities. 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 4. [provided by RefSeq, Dec 2011]

Description

Synaptotagmin 14

Tissue specificity

Group enriched (brain, retina, testis, thyroid gland)

Subcell location

Vesicles

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted membrane proteins

Chromosome

1 (209900923 - 210171389)

Ensembl ID

ENSG00000143469  (ver. 103.38)

Orthologs

Mouse Syt14: ENSMUSG00000016200

UniProt

Q8NB59

neXtProt

NX_Q8NB59

Human splice variants
Mouse splice variants

Protein structure