Protein-coding gene in the species Homo sapiens
SYT14 |
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Identifiers |
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Aliases | SYT14, SCAR11, sytXIV, synaptotagmin 14 |
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External IDs | OMIM: 610949; MGI: 2444490; HomoloGene: 17719; GeneCards: SYT14; OMA:SYT14 - orthologs |
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Gene location (Human) |
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![Chromosome 1 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/d/d6/Ideogram_human_chromosome_1.svg/300px-Ideogram_human_chromosome_1.svg.png) | Chr. | Chromosome 1 (human)[1] |
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| Band | 1q32.2 | Start | 209,900,923 bp[1] |
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End | 210,171,389 bp[1] |
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Gene location (Mouse) |
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![Chromosome 1 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/f/fb/Ideogram_house_mouse_chromosome_1.svg/260px-Ideogram_house_mouse_chromosome_1.svg.png) | Chr. | Chromosome 1 (mouse)[2] |
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| Band | 1|1 H6 | Start | 192,573,541 bp[2] |
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End | 192,718,083 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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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
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| 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
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | NM_001146261 NM_001146262 NM_001146264 NM_001256006 NM_153262
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NM_001397544 NM_001397545 |
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RefSeq (protein) | |
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NP_001139733 NP_001139734 NP_001139736 NP_001242935 NP_694994 |
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Location (UCSC) | Chr 1: 209.9 – 210.17 Mb | Chr 1: 192.57 – 192.72 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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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
- ^ 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
- 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.