SYT14

SYT14
Identifiers
AliasesSYT14, SCAR11, sytXIV, synaptotagmin 14
External IDsMGI: 2444490 HomoloGene: 17719 GeneCards: SYT14
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1q32.2Start209,938,174 bp[1]
End210,171,389 bp[1]
Orthologs
SpeciesHumanMouse
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_001139733
NP_001139734
NP_001139736
NP_001242935
NP_694994

NP_001288299
NP_853524

Location (UCSC)Chr 1: 209.94 – 210.17 MbChr 1: 192.89 – 193.04 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000143469 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000016200 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 "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.

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


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