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529 ATP6V1E1

529

ATP6V1E1

ATPase H+ transporting V1 subunit E1

protein-coding

Homo sapiens

基因描述

Type Description
Definition ATPase H+ transporting V1 subunit E1

研究结论

Date Results Publications
2018-02-24 11:02:00 expression of the V-ATPase V1E1 has prognostic significance in esophageal squamous cell carcinoma, and is closely linked to migration, invasion, and aerobic glycolysis in esophageal cancer cells 27384996
2017-05-06 11:31:00 We report biallelic mutations in ATP6V1E1 and ATP6V1A, respectively encoding the E1 and A subunits of the V1 domain of V-ATPase, as a cause of distinct metabolic and multisystemic cutis laxa entities. 28065471
2015-06-27 12:34:00 Low-grade PanIN lesions with typical columnar morphology displayed diffuse labeling of the V1E subunit. In advanced lesions it was found along the basolateral membranes. 25072283
2012-12-29 10:46:00 The genes CECR2, SLC25A18 and ATP6V1E1, mapping within the critical region for cat eye syndrome (CES), may be responsible for anorectal, renal and preauricular anomalies in patients with CES. 22395867
2010-01-21 00:00:00 Data demonstrate the physiological significance of the interaction between the E and H subunits of V-ATPase and extend previous studies on the arrangement of subunits on the peripheral stalk of V-ATPase. 12163484

名称对应

Type IDs
Synonymous ARCL2C, ATP6E, ATP6E2, ATP6V1E, P31, Vma4
Gene
UniProtKB-ID: VATE1_HUMAN, Q53Y06_HUMAN
UniprotKB: P36543, Q53Y06
UniParc: UPI0000000C60, UPI000069648E, UPI000069648D
EMBL: X76228, AC007666, X71491, CH471193, CR456385, AK312394, BC004443, AC004019, AK294623, AK315941, BT007128, AC006285
Ensembl: ENSG00000131100
KO: hsa:529
Nucleutide sequences
EMBL-CDS: CAG30271.1, CAA50592.1, AAH04443.1, CAA53814.1, BAG57804.1, BAH14312.1, AAP35792.1, EAW57764.1, BAG35311.1, EAW57763.1
Gene_ORFName: hCG_21530
Ensembl_TRS: ENST00000399798, ENST00000253413, ENST00000399796
Protein sequencees
Ensembl_PRO: ENSP00000382696, ENSP00000253413, ENSP00000382694
RefSeq: NP_001687.1, NP_001034456.1, NP_001034455.1
Others
UniRef100: UniRef100_P36543
UniRef90: UniRef90_P36543
UniRef50: UniRef50_P36543
UniGene: Hs.517338
CCDS: CCDS42977.1, CCDS42978.1, CCDS13745.1

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