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378884 NHLRC1

378884

NHLRC1

NHL repeat containing E3 ubiquitin protein ligase 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition NHL repeat containing E3 ubiquitin protein ligase 1

研究结论

Date Results Publications
2020-04-25 10:10:00 Laforin/malin complex interacts physically and co-localizes intracellularly with core components of the PI3KC3 complex (Beclin1, Vps34 and Vps15), and that this interaction is specific and results in the polyubiquitination of these proteins. 31758957
2016-09-17 11:23:00 Malin promotes its own degradation via auto-ubiquitination.Malin preferentially degrades the phosphatase-inactive laforin monomer. 26648032
2016-01-30 11:45:00 laforin/malin complex is able to interact with and ubiquitinate both PKM1 and PKM2 26493215
2015-10-03 11:19:00 Lafora disease proteins laforin and malin negatively regulate the HIPK2-p53 cell death pathway. 26102034
2015-03-07 12:27:00 This study demonistrated that NHLRC1 mutations were detected in some case of Mild Lafora disease patients. 25270369

名称对应

Type IDs
Synonymous EPM2A, EPM2B, MALIN, bA204B7.2
Gene
UniProtKB-ID: NHLC1_HUMAN
UniprotKB: Q6VVB1
UniParc: UPI0000198CE1
EMBL: BC103890, BK001510, AL589723, BC103889, AY324850, BC103888
Ensembl: ENSG00000187566
KO: hsa:378884
Nucleutide sequences
EMBL-CDS: AAQ19671.1, DAA01954.1, AAI03891.1, AAI03890.1, AAI03889.1
Ensembl_TRS: ENST00000340650
Protein sequencees
Ensembl_PRO: ENSP00000345464
RefSeq: NP_940988.2
Others
UniRef100: UniRef100_Q6VVB1
UniRef90: UniRef90_Q6VVB1
UniRef50: UniRef50_Q6VVB1
UniGene: Hs.348351
CCDS: CCDS4542.1

全选

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研究热度

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