SYT14
Identifiers
Aliases	SYT14, SCAR11, sytXIV, synaptotagmin 14
External IDs	OMIM: 610949; MGI: 2444490; HomoloGene: 17719; GeneCards: SYT14; OMA:SYT14 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q32.2 Start 209,900,923 bp[1] End 210,171,389 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 H6 Start 192,573,541 bp[2] End 192,718,083 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle islet of Langerhans gonad ganglionic eminence cerebellar hemisphere stromal cell of endometrium right hemisphere of cerebellum ventricular zone anterior pituitary prefrontal cortex Top expressed in otolith organ utricle superior cervical ganglion vestibular sensory epithelium trigeminal ganglion lumbar spinal ganglion hand medial ganglionic eminence olfactory epithelium islet of Langerhans More reference expression data BioGPS 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 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_001397544 NM_001397545 NM_001301370 NM_181546 RefSeq (protein) NP_001139733 NP_001139734 NP_001139736 NP_001242935 NP_694994 NP_001288299 NP_853524 Location (UCSC) Chr 1: 209.9 – 210.17 Mb Chr 1: 192.57 – 192.72 Mb PubMed search [3] [4]
Wikidata
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Synaptotagmin XIV is a protein that in humans is encoded by the SYT14 gene.^[5]

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.^[5]

Clinical relevance

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

References

Further reading

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 adding missing information.

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