Synaptotagmin-14

SYT14
Identifiers
Aliases	SYT14, SCAR11, sytXIV, synaptotagmin 14
External IDs	OMIM: 610949 MGI: 2444490 HomoloGene: 17719 GeneCards: SYT14
Gene location (Human)
Chr.	Chromosome 1 (human)
End	210,171,389 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	192,718,083 bp
RNA expression pattern
	Top expressed in
	islet of Langerhans; ; ganglionic eminence; ; cerebellar hemisphere; ; stromal cell of endometrium; ; anterior pituitary; ; prefrontal cortex; ; corpus callosum; ; Brodmann area 9; ; thyroid gland; ; hypothalamus;
	Top expressed in
	otolith organ; ; utricle; ; superior cervical ganglion; ; trigeminal ganglion; ; hand; ; medial ganglionic eminence; ; olfactory epithelium; ; islet of Langerhans; ; primitive streak; ; Region I of hippocampus proper;
	More reference expression data
	n/a
Gene ontology
Molecular function	calcium-dependent phospholipid binding; clathrin binding; calcium ion binding; syntaxin binding;
Cellular component	integral component of membrane; membrane; plasma membrane; synapse; presynapse;
Biological process	calcium ion-regulated exocytosis of neurotransmitter; vesicle fusion; regulation of calcium ion-dependent exocytosis;
	Sources:Amigo / QuickGO
Orthologs
	255928
	329324
	ENSG00000143469
	ENSMUSG00000016200
	Q8NB59
	Q7TN84
NM_001146261; NM_001146262; NM_001146264; NM_001256006; NM_153262;
	NM_001397544; NM_001397545
	NM_001301370; NM_181546
	NP_001139733; NP_001139734; NP_001139736; NP_001242935; NP_694994
	NP_001288299; NP_853524
	Wikidata
View/Edit Human	View/Edit Mouse

Synaptotagmin XIV is a protein that in humans is encoded by the SYT14 gene.^[5]

Function edit

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.^[5]

Clinical relevance edit

Mutations in this gene have been shown to cause autosomal recessive spinocerebellar ataxia with psychomotor retardation.^[6]

References edit

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000143469 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000016200 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: Synaptotagmin XIV". Retrieved 2011-12-30.
^ 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 edit

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. S2CID 36533140.

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

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000143469 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000016200 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Synaptotagmin XIV". Retrieved 2011-12-30.

[pmid21835308-6] 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.

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