Synaptotagmin-14

SYT14
Identifiers
AliasesSYT14, SCAR11, sytXIV, synaptotagmin 14
External IDsOMIM: 610949; MGI: 2444490; HomoloGene: 17719; GeneCards: SYT14; OMA:SYT14 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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 MbChr 1: 192.57 – 192.72 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

[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]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000143469Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000016200Ensembl, 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. ^ a b "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

[edit]

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