SYT14

SYT14
Identifiers
Aliases	SYT14, SCAR11, sytXIV, synaptotagmin 14
External IDs	MGI: 2444490 HomoloGene: 17719 GeneCards: SYT14
Gene ontology Molecular function • calcium-dependent phospholipid binding • clathrin binding • calcium ion binding • syntaxin binding Cellular component • integral component of membrane • membrane • plasma membrane Biological process • calcium ion-regulated exocytosis of neurotransmitter • vesicle fusion • regulation of calcium ion-dependent exocytosis Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	255928	329324
Ensembl	ENSG00000143469	ENSMUSG00000016200
UniProt	Q8NB59	Q7TN84
RefSeq (mRNA)	NM_001146261 NM_001146262 NM_001146264 NM_001256006 NM_153262	NM_001301370 NM_181546
RefSeq (protein)	NP_001139734.1 NP_001242935.1 NP_694994.2	NP_853524.1
Location (UCSC)	Chr 1: 209.94 – 210.17 Mb	Chr 1: 192.89 – 193.04 Mb
PubMed search	[1]	[2]
Wikidata

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Synaptotagmin XIV is a protein that in humans is encoded by the SYT14 gene.^[3]

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.^[3]

Clinical relevance

Mutations in this gene have been shown to cause autosomal recessive spinocerebellar ataxia with psychomotor retardation.^[4]

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. "Entrez Gene: Synaptotagmin XIV". Retrieved 2011-12-30.
4. 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". American Journal of Human Genetics. 89 (2): 320–7. doi:10.1016/j.ajhg.2011.07.012. PMC 3155161. PMID 21835308.

Further reading

• Fukuda M (May 2003). "Molecular cloning, expression, and characterization of a novel class of synaptotagmin (Syt XIV) conserved from Drosophila to humans". Journal of Biochemistry. 133 (5): 641–9. doi:10.1093/jb/mvg082. PMID 12801916.
• Craxton M (July 2004). "Synaptotagmin gene content of the sequenced genomes". BMC Genomics. 5 (1): 43. doi:10.1186/1471-2164-5-43. PMC 471550. PMID 15238157.
• Quintero-Rivera F, Chan A, Donovan DJ, Gusella JF, Ligon AH (March 2007). "Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities". American Journal of Medical Genetics Part A. 143A (6): 558–63. 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.