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VAC14

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VAC14
識別號
别名VAC14;, ArPIKfyve, TAX1BP2, TRX, Vac14, PIKFYVE complex component, VAC14 component of PIKFYVE complex
外部IDOMIM604632 MGI2157980 HomoloGene6528 GeneCardsVAC14
相關疾病
striatonigral degeneration, childhood-onset; SNDC[1]
基因位置(人类
16號染色體
染色体16號染色體[2]
16號染色體
VAC14的基因位置
VAC14的基因位置
基因座16q22.1-q22.2起始70,687,439 bp[2]
终止70,801,160 bp[2]
直系同源
物種人類小鼠
Entrez
Ensembl
UniProt
mRNA​序列

​NM_018052
​NM_001351157

NM_146216

蛋白序列

NP_060522
​NP_001338086

NP_666328

基因位置​(UCSC)Chr 16: 70.69 – 70.8 MbChr 8: 111.35 – 111.45 Mb
PubMed​查找[4][5]
維基數據
檢視/編輯人類檢視/編輯小鼠

VAC14也称为ArPIKfyveAssociated Regulator of PIKfyve,“PIKfyve相关调节因子”)或TAX1BP2Tax1 binding protein 2,“Tax1结合蛋白2”)是人类基因 VAC14 编码的蛋白质[6][7][8]

参考文献

[编辑]
  1. ^ 與VAC14相關的疾病;在維基數據上查看/編輯參考. 
  2. ^ 2.0 2.1 2.2 GRCh38: Ensembl release 89: ENSG00000103043 - Ensembl, May 2017
  3. ^ 3.0 3.1 3.2 GRCm38: Ensembl release 89: ENSMUSG00000010936 - Ensembl, May 2017
  4. ^ Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine. 
  5. ^ Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine. 
  6. ^ Entrez Gene: Vac14 homolog (S. cerevisiae). 
  7. ^ Davy BE, Robinson ML. Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene. Human Molecular Genetics. May 2003, 12 (10): 1163–1170. PMID 12719380. doi:10.1093/hmg/ddg122可免费查阅. 
  8. ^ Sbrissa D, Ikonomov OC, Strakova J, Dondapati R, Mlak K, Deeb R, et al. A mammalian ortholog of Saccharomyces cerevisiae Vac14 that associates with and up-regulates PIKfyve phosphoinositide 5-kinase activity. Molecular and Cellular Biology. December 2004, 24 (23): 10437–10447. PMC 529046可免费查阅. PMID 15542851. doi:10.1128/MCB.24.23.10437-10447.2004.