Varaico: Literature-Extracted Genetic Variants

Gene:UBB
Variant:p.K11R
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UBB

NM_018955.4:p.K11R

Associated Papers

Functional landscape of ubiquitin linkages couples K29-linked ubiquitylation to epigenome integrity.

Arroyo-Gomez J et al.

The Embo Journal, 2025

41125851 (PubMed )
Supplement: 44318_2025_599_MOESM13_ESM.zip › Figure_EV1.zip › Figure_EV1 › EV1C › EV1C.xlsx › Sheet1

Locking CBL TKBD in its native conformation presents a novel therapeutic opportunity in mutant CBL-dependent leukemia.

Ahmed SF et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025

SLC25A1 and ACLY maintain cytosolic acetyl-CoA and regulate ferroptosis susceptibility via FSP1 acetylation.

Li W et al.

The Embo Journal, 2025

Convergence of orphan quality control pathways at a ubiquitin chain-elongating ligase.

Carrillo Roas S et al.

Molecular Cell, 2025

E3 ubiquitin ligase CHIP facilitates cAMP and cGMP signalling cross-talk by polyubiquitinating PDE9A.

Hao X et al.

The Embo Journal, 2025

Sugar-mediated non-canonical ubiquitination impairs Nrf1/NFE2L1 activation.

Yoshida Y et al.

Molecular Cell, 2024

The TDRD3-USP9X complex and MIB1 regulate TOP3B homeostasis and prevent deleterious TOP3B cleavage complexes.

Saha S et al.

Nature Communications, 2023

Multiple E3 ligases control tankyrase stability and function.

Perrard J et al.

Nature Communications, 2023

37938264 (PubMed )
Supplement: 41467_2023_42939_MOESM5_ESM.xlsx › Plasmids

Hyperubiquitylation of DNA helicase RECQL4 by E3 ligase MITOL prevents mitochondrial entry and potentiates mitophagy.

Hussain M et al.

The Journal of Biological Chemistry, 2023

37495109 (PubMed )
Supplement: mmc1.pdf

Orphan quality control shapes network dynamics and gene expression.

Mark KG et al.

Cell, 2023

Alzheimer's disease-associated mutant ubiquitin (UBB+1) is secreted through an autophagosome-like vesicle-mediated unconventional pathway.

Wagh AR et al.

Biochimica Et Biophysica Acta. Gene Regulatory Mechanisms, 2023

SPT16 ubiquitylation by DCAF14-CRL4 regulates FACT binding to histones.

Nakagawa T et al.

Cell Reports, 2022

MITOL-dependent ubiquitylation negatively regulates the entry of PolγA into mitochondria.

Hussain M et al.

Plos Biology, 2021

33657094 (PubMed )
Supplement: pbio.3001139.s010.pdf

DNA and RNA Cleavage Complexes and Repair Pathway for TOP3B RNA- and DNA-Protein Crosslinks.

Saha S et al.

Cell Reports, 2020

Hepatitis B Core Protein Is Post-Translationally Modified through K29-Linked Ubiquitination.

Langerová H et al.

Cells, 2020

Ubiquitination of DNA Damage-Stalled RNAPII Promotes Transcription-Coupled Repair.

Nakazawa Y et al.

Cell, 2020

Monoubiquitination by the human Fanconi anemia core complex clamps FANCI:FANCD2 on DNA in filamentous arrays.

Tan W et al.

Elife, 2020

The Human Cytomegalovirus pUL145 Isoforms Act as Viral DDB1-Cullin-Associated Factors to Instruct Host Protein Degradation to Impede Innate Immunity.

Le-Trilling VTK et al.

Cell Reports, 2020

Proteomics Links Ubiquitin Chain Topology Change to Transcription Factor Activation.

Li Y et al.

Molecular Cell, 2019

Autoinhibition Mechanism of the Ubiquitin-Conjugating Enzyme UBE2S by Autoubiquitination.

Liess AKL et al.

Structure (london, England : 1993), 2019

BLM Potentiates c-Jun Degradation and Alters Its Function as an Oncogenic Transcription Factor.

Priyadarshini R et al.

Cell Reports, 2018

Assembly and Function of Heterotypic Ubiquitin Chains in Cell-Cycle and Protein Quality Control.

Yau RG et al.

Cell, 2017

Regulation of NUB1 Activity through Non-Proteolytic Mdm2-Mediated Ubiquitination.

Bonacci T et al.

Plos One, 2017

The TREX1 C-terminal region controls cellular localization through ubiquitination.

Orebaugh CD et al.

The Journal of Biological Chemistry, 2013

Disease-associated mutant ubiquitin causes proteasomal impairment and enhances the toxicity of protein aggregates.

Tank EM et al.

Plos Genetics, 2009

Helix mutations stabilize a late productive intermediate on the folding pathway of ubiquitin.

Rea AM et al.

Biochemistry, 2008

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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."