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30849 PIK3R4

30849

PIK3R4

phosphoinositide-3-kinase regulatory subunit 4

protein-coding

Homo sapiens

基因描述

Type Description
Definition phosphoinositide-3-kinase regulatory subunit 4

研究结论

Date Results Publications
2019-05-18 11:00:00 The mutations in VPS15 are associated with cortical atrophy and epilepsy in humans. 29311744
2018-09-29 10:13:00 A missense mutation in PIK3R4 (phosphoinositide 3-kinase regulatory subunit 4, named VPS15) in a family with a ciliopathy phenotype is identified. Besides being required for trafficking and autophagy, we show that VPS15 regulates primary cilium length in human fibroblasts. 27882921
2017-10-28 12:17:00 Both Danon Disease and glycogen storage disease type II show accumulation and altered localization of VPS15 in autophagy-incompetent fibers. However, TFEB displays a different pattern between these two lysosomal storage diseases 28102838
2015-08-01 12:03:00 High expression of PI3K core complex genes is associated with poor prognosis in chronic lymphocytic leukemia. 25840748
2011-01-29 10:58:00 A specific sub-complex containing VPS15, VPS34, Beclin 1, UVRAG and BIF-1 regulates both receptor degradation and cytokinesis, whereas ATG14L, a PI3K-III subunit involved in autophagy, is not required. 20643123

名称对应

Type IDs
Synonymous VPS15, p150
Gene
UniProtKB-ID: PI3R4_HUMAN
UniprotKB: Q99570
UniParc: UPI0000071EF3
EMBL: BC127106, BC110318, Y08991
Ensembl: ENSG00000196455
KO: hsa:30849
Nucleutide sequences
EMBL-CDS: AAI27107.1, AAI10319.1, CAA70176.1
Ensembl_TRS: ENST00000356763
Protein sequencees
Ensembl_PRO: ENSP00000349205
RefSeq: NP_055417.1
Others
UniRef100: UniRef100_Q99570
UniRef90: UniRef90_Q99570
UniRef50: UniRef50_Q99570
UniGene: Hs.149032
CCDS: CCDS3067.1

全选

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