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57724 EPG5

57724

EPG5

ectopic P-granules autophagy protein 5 homolog

protein-coding

Homo sapiens

基因描述

Type Description
Definition ectopic P-granules autophagy protein 5 homolog

研究结论

Date Results Publications
2021-02-06 13:48:00 EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome. 31184778
2020-08-22 15:25:00 C-myc/miR-150/EPG5 axis mediated dysfunction of autophagy promotes development of non-small cell lung cancer. 31410206
2019-11-02 11:45:00 we successfully identified novel compound heterozygous mutations in EPG5 in a patient who was clinically considered to have Vici syndrome. 30152144
2019-05-18 12:06:00 To investigate the function of EPG5, siRNA based EPG5 knock-down, and CRISPR/Cas9 mediated EPG5 knock-out HeLa cells were generated. EPG5-depleted cells exhibited a complete block of autophagic flux caused by defective autophagosome-lysosome fusion. 28615637
2019-03-02 12:03:00 these findings indicate that EPG5, by controlling nucleic acids intracellular trafficking, links macroautophagy/autophagy to innate and adaptive immunity. 29130391

名称对应

Type IDs
Synonymous HEEW1, KIAA1632, VICIS
Gene
UniProtKB-ID: EPG5_HUMAN, Q9BTI0_HUMAN
UniprotKB: Q9HCE0, Q9BTI0
UniParc: UPI000006DEBF, UPI00015C73E2, UPI00004F6F8A
EMBL: AB046852, BC130614, AK023817, AC090355, BC003695, AC087685
Ensembl: ENSG00000152223
KO: hsa:57724
Nucleutide sequences
EMBL-CDS: BAB14689.1, AAI30615.1, BAB13458.1, AAH03695.1
Ensembl_TRS: ENST00000282041
Protein sequencees
Ensembl_PRO: ENSP00000282041
RefSeq: XP_016881381.1, XP_016881378.1, XP_016881379.1, NP_066015.2, XP_011524424.1, XP_016881380.1, XP_016881382.1
Others
UniRef100: UniRef100_Q9BTI0, UniRef100_Q9HCE0
UniRef90: UniRef90_Q9HCE0, UniRef90_A0A2K5JRP8
UniRef50: UniRef50_Q9HCE0
UniGene: Hs.514843
CCDS: CCDS11926.2

全选

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