Synaptotagmin-14

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
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000143469 – Ensembl, May 2017
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.
5. "Entrez Gene: Synaptotagmin XIV" . Retrieved 2011-12-30.
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.

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. S2CID   36533140.

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