Varaico: Literature-Extracted Genetic Variants

Gene:DDRGK1
Variant:p.K267R
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DDRGK1

NM_023935.3:p.K267R

Associated Papers

The ufmylation cascade controls COPII recruitment, anterograde transport, and sorting of nascent GPCRs at ER.

Xu X et al.

Science Advances, 2024

Mechanistic insights into the roles of the UFM1 E3 ligase complex in ufmylation and ribosome-associated protein quality control.

Ishimura R et al.

Science Advances, 2023

Loss of DDRGK1 impairs IRE1α UFMylation in spondyloepiphyseal dysplasia.

Yang X et al.

International Journal of Biological Sciences, 2023

The UFM1 system regulates ER-phagy through the ufmylation of CYB5R3.

Ishimura R et al.

Nature Communications, 2022

A critical role of DDRGK1 in endoplasmic reticulum homoeostasis via regulation of IRE1α stability.

Liu J et al.

Nature Communications, 2017

A novel approach to assess the ubiquitin-fold modifier 1-system in cells.

Ishimura R et al.

Febs Letters, 2017

UFMylation: A Unique & Fashionable Modification for Life.

Wei Y et al.

Genomics, Proteomics & Bioinformatics, 2016

Structural and Functional Analysis of a Novel Interaction Motif within UFM1-activating Enzyme 5 (UBA5) Required for Binding to Ubiquitin-like Proteins and Ufmylation.

Habisov S et al.

The Journal of Biological Chemistry, 2016

A novel type of E3 ligase for the Ufm1 conjugation system.

Tatsumi K et al.

The Journal of Biological Chemistry, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."