SYT14

Synaptotagmin XIV
Identifiers
Symbols	SYT14 ; SCAR11; sytXIV
External IDs	OMIM: 610949 HomoloGene: 17719 GeneCards: SYT14 Gene
Gene ontology Molecular function • calcium ion binding • calcium-dependent phospholipid binding • syntaxin binding • clathrin binding • protein homodimerization activity • protein heterodimerization activity Cellular component • plasma membrane • integral component of membrane Biological process • synaptic vesicle exocytosis • regulation of calcium ion-dependent exocytosis • calcium ion-dependent exocytosis of neurotransmitter Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	255928	329324
Ensembl	ENSG00000143469	ENSMUSG00000016200
UniProt	Q8NB59	Q7TN84
RefSeq (mRNA)	NM_001146261	NM_001301370
RefSeq (protein)	NP_001139733	NP_001288299
Location (UCSC)	Chr 1: 209.94 – 210.17 Mb	Chr 1: 192.89 – 193.04 Mb
PubMed search

Synaptotagmin XIV is a protein that in humans is encoded by the SYT14 gene.^[1]

Function

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.^[1]

Clinical relevance

Mutations in this gene have been shown to cause autosomal recessive spinocerebellar ataxia with psychomotor retardation.^[2]

References

1. "Entrez Gene: Synaptotagmin XIV". Retrieved 2011-12-30.
2. Doi H, Yoshida K, Yasuda T, Fukuda M, Fukuda Y, Morita H, Ikeda S, Kato R, Tsurusaki Y, Miyake N, Saitsu H, Sakai H, Miyatake S, Shiina M, Nukina N, Koyano S, Tsuji S, Kuroiwa Y, Matsumoto N (August 2011). "Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation". Am. J. Hum. Genet. 89 (2): 320–7. doi:10.1016/j.ajhg.2011.07.012. PMC 3155161. PMID 21835308.

Further reading

• Fukuda, M. (2003). "Molecular cloning, expression, and characterization of a novel class of synaptotagmin (Syt XIV) conserved from Drosophila to humans". Journal of Biochemistry 133 (5): 641–649. doi:10.1093/jb/mvg082. PMID 12801916.
• Craxton, M. (2004). "Synaptotagmin gene content of the sequenced genomes". BMC Genomics 5: 43. doi:10.1186/1471-2164-5-43. PMC 471550. PMID 15238157.
• Quintero-Rivera, F.; Chan, A.; Donovan, D. J.; Gusella, J. F.; Ligon, A. H. (2007). "Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities". American Journal of Medical Genetics Part A 143A (6): 558–563. doi:10.1002/ajmg.a.31618. PMID 17304550.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.