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1892 ECHS1

1892

ECHS1

enoyl-CoA hydratase, short chain 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition enoyl-CoA hydratase, short chain 1

研究结论

Date Results Publications
2020-10-31 13:17:00 Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report. 32677908
2020-10-24 14:02:00 ECHS1 suppresses renal cell carcinoma development through inhibiting mTOR signaling activation. 31891870
2020-06-20 11:34:00 In clear cell renal cell carcinoma (ccRCC) ECHS1 downregulation induced fatty acid (FA) and branched-chain amino acid (BCAA) accumulation, which inhibited AMPK-promoted expression of GATA3, a transcriptional activator of ECHS1. BCAA accumulation induced activation of mTORC1 and de novo FA synthesis and promoted cell proliferation. GATA3 expression phenocopied ECHS1 in predicting ccRCC progression and patient survival. 31690668
2018-07-14 11:24:00 Due to enoyl coenzyme A hydratase, short chain, 1, mitochondria (ECHS1) deficiency. 28409271
2017-12-30 12:46:00 exceeding nutrients suppress Enoyl-CoA hydratase-1 (ECHS1) activity by inducing its acetylation resulting in accumulation of fatty acids and branched-chain amino acids and oncogenic mTOR activation 28878358

名称对应

Type IDs
Synonymous ECHS1D, SCEH
Gene
UniProtKB-ID: ECHM_HUMAN
UniprotKB: P30084
UniParc: UPI000013CC49
EMBL: X98129, D13900, BC008906, X98126, X98128, BT007123, X98127, AL360181
Ensembl: ENSG00000127884
KO: hsa:1892
Nucleutide sequences
EMBL-CDS: CAA66808.1, BAA03001.1, AAP35787.1, AAH08906.1
Ensembl_TRS: ENST00000368547
Protein sequencees
Ensembl_PRO: ENSP00000357535
RefSeq: NP_004083.3
Others
UniRef100: UniRef100_P30084
UniRef90: UniRef90_P30084
UniRef50: UniRef50_P30084
UniGene: Hs.76394
CCDS: CCDS7681.1

全选

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研究热度

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