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54832 VPS13C

54832

VPS13C

vacuolar protein sorting 13 homolog C

protein-coding

Homo sapiens

基因描述

Type Description
Definition vacuolar protein sorting 13 homolog C

研究结论

Date Results Publications
2021-04-13 10:09:00 TBC1D1 interacting proteins, VPS13A and VPS13C, regulate GLUT4 homeostasis in C2C12 myotubes. 33087848
2019-09-28 11:58:00 human VPS13A and VPS13C bind to the ER, tethering it to mitochondria (VPS13A), to late endosome/lysosomes (VPS13C), and to lipid droplets (both VPS13A and VPS13C). 30093493
2019-09-14 12:51:00 the identification and characterization of a large L1 retrotransposition-mediated VPS13C deletion in a patient with parkinsonism 30452786
2019-09-14 12:26:00 Despite the low diagnostic yield of exome sequencing in sporadic early-onset PD, the confirmation of the recently discovered VPS13C gene highlights its advantage over using predefined gene panels. 28862745
2019-07-20 11:38:00 Knockdown of VPS13C-has-circ-001567 significantly promoted apoptosis and inhibited the proliferation of SKOV3 and OV-1063 cells in vitro. Knockdown of VPS13C-has-circ-001567 led to cell cycle arrest at G1 phase and decreased the percentage of S1 phase cells. Knockdown of VPS13C-has-circ-001567 decreased the invasion ability of SKOV3 and OV-1063 cells. 30376358

名称对应

Type IDs
Synonymous PARK23
Gene
UniProtKB-ID: VP13C_HUMAN
UniprotKB: Q709C8
UniParc: UPI000023B7D2, UPI000023B7D3, UPI000023BD43, UPI000023BD44
EMBL: BC069387, AJ608771, AJ608770, AB037842, AK000143, AJ626861, AJ626860
Ensembl: ENSG00000129003
KO: hsa:54832
Nucleutide sequences
EMBL-CDS: CAF25188.1, CAF25187.1, CAE75582.1, AAH69387.1, BAA90972.1, BAA92659.1, CAE75583.1
Ensembl_TRS: ENST00000644861, ENST00000645819, ENST00000249837, ENST00000395898
Protein sequencees
Ensembl_PRO: ENSP00000249837, ENSP00000496179, ENSP00000379235, ENSP00000493560
RefSeq: NP_060154.3, XP_011520016.1, XP_011520015.1, NP_060550.2, NP_065872.1, NP_001018098.1
Others
UniRef100: UniRef100_Q709C8
UniRef90: UniRef90_Q709C8
UniRef50: UniRef50_Q709C8
UniGene: Hs.511668
CCDS: CCDS45272.1, CCDS58367.1, CCDS10180.1, CCDS32257.1

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