Varaico: Literature-Extracted Genetic Variants

Gene:STUB1
Variant:p.H260Q
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STUB1

NM_005861.4:p.H260Q

Associated Papers

A novel nonsense mutation of the glucocorticoid receptor gene causing glucocorticoid resistance with infertility.

Lei J et al.

Endocrine, 2025

Promotion of stem cell-like phenotype of lung adenocarcinoma by FAM83A via stabilization of ErbB2.

Yuan Y et al.

Cell Death & Disease, 2024

Cross-talk between BCKDK-mediated phosphorylation and STUB1-dependent ubiquitination degradation of BCAT1 promotes GBM progression.

Wang W et al.

Cancer Letters, 2024

CARPs regulate STUB1 and its pathogenic mutants aggregation kinetics by mono-ubiquitination.

Sharma R et al.

The Febs Journal, 2023

The E3 Ubiquitin Ligase, CHIP/STUB1, Inhibits Aggregation of Phosphorylated Proteoforms of Microtubule-associated Protein Tau (MAPT).

Nadel CM et al.

Journal of Molecular Biology, 2023

USP35 dimer prevents its degradation by E3 ligase CHIP through auto-deubiquitinating activity.

Park J et al.

Cellular and Molecular Life Sciences : Cmls, 2023

METTL3 protects METTL14 from STUB1-mediated degradation to maintain m6 A homeostasis.

Zeng ZC et al.

Embo Reports, 2023

A dimer-monomer switch controls CHIP-dependent substrate ubiquitylation and processing.

Balaji V et al.

Molecular Cell, 2022

CHIP-dependent regulation of the actin cytoskeleton is linked to neuronal cell membrane integrity.

Dias C et al.

Iscience, 2021

CHIP/STUB1 Ubiquitin Ligase Functions as a Negative Regulator of ErbB2 by Promoting Its Early Post-Biosynthesis Degradation.

Luan H et al.

Cancers, 2021

Vorinostat combined with brigatinib overcomes acquired resistance in EGFR-C797S-mutated lung cancer.

Lin CY et al.

Cancer Letters, 2021

Hsp70 acts as a fine-switch that controls E3 ligase CHIP-mediated TAp63 and ΔNp63 ubiquitination and degradation.

Wu HH et al.

Nucleic Acids Research, 2021

Arginine recycling in endothelial cells is regulated BY HSP90 and the ubiquitin proteasome system.

Wu X et al.

Nitric Oxide : Biology and Chemistry, 2021

CHIP and BAP1 Act in Concert to Regulate INO80 Ubiquitination and Stability for DNA Replication.

Seo HR et al.

Molecules and Cells, 2021

Ubiquitin ligase CHIP regulates OTUD3 stability and suppresses tumour metastasis in lung cancer.

Zhang P et al.

Cell Death and Differentiation, 2020

Nik-related kinase is targeted for proteasomal degradation by the chaperone-dependent ubiquitin ligase CHIP.

Naito S et al.

Febs Letters, 2020

The E3 ubiquitin ligase STUB1 attenuates cell senescence by promoting the ubiquitination and degradation of the core circadian regulator BMAL1.

Ullah K et al.

The Journal of Biological Chemistry, 2020

Changes in protein function underlie the disease spectrum in patients with CHIP mutations.

Madrigal SC et al.

The Journal of Biological Chemistry, 2019

CHIP promotes autophagy-mediated degradation of aggregating mutant p53 in hypoxic conditions.

Maan M et al.

The Febs Journal, 2018

Disrupted structure and aberrant function of CHIP mediates the loss of motor and cognitive function in preclinical models of SCAR16.

Shi CH et al.

Plos Genetics, 2018

Neuronal Preconditioning Requires the Mitophagic Activity of C-terminus of HSC70-Interacting Protein.

Lizama BN et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2018

Loss of the Nuclear Pool of Ubiquitin Ligase CHIP/STUB1 in Breast Cancer Unleashes the MZF1-Cathepsin Pro-oncogenic Program.

Luan H et al.

Cancer Research, 2018

Stabilization of Notch1 by the Hsp90 Chaperone Is Crucial for T-Cell Leukemogenesis.

Wang Z et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

The E3 ubiquitin ligase CHIP mediates ubiquitination and proteasomal degradation of PRMT5.

Zhang HT et al.

Biochimica Et Biophysica Acta, 2016

Protein-Protein Interactions Modulate the Docking-Dependent E3-Ubiquitin Ligase Activity of Carboxy-Terminus of Hsc70-Interacting Protein (CHIP).

Narayan V et al.

Molecular & Cellular Proteomics : Mcp, 2015

UBXN2A regulates nicotinic receptor degradation by modulating the E3 ligase activity of CHIP.

Teng Y et al.

Biochemical Pharmacology, 2015

K63 linked ubiquitin chain formation is a signal for HIF1A degradation by Chaperone-Mediated Autophagy.

Ferreira JV et al.

Scientific Reports, 2015

The Inhibition of Heat Shock Protein 90 Facilitates the Degradation of Poly-Alanine Expanded Poly (A) Binding Protein Nuclear 1 via the Carboxyl Terminus of Heat Shock Protein 70-Interacting Protein.

Shi C et al.

Plos One, 2015

Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP.

Shi CH et al.

Human Molecular Genetics, 2014

Ubiquitination-dependent quality control of hERG K+ channel with acquired and inherited conformational defect at the plasma membrane.

Apaja PM et al.

Molecular Biology of the Cell, 2013

STUB1/CHIP is required for HIF1A degradation by chaperone-mediated autophagy.

Ferreira JV et al.

Autophagy, 2013

Stabilization of integrin-linked kinase by the Hsp90-CHIP axis impacts cellular force generation, migration and the fibrotic response.

Radovanac K et al.

The Embo Journal, 2013

Loss of HDAC6, a novel CHIP substrate, alleviates abnormal tau accumulation.

Cook C et al.

Human Molecular Genetics, 2012

The chaperone-assisted E3 ligase C terminus of Hsc70-interacting protein (CHIP) targets PTEN for proteasomal degradation.

Ahmed SF et al.

The Journal of Biological Chemistry, 2012

Molecular chaperone complexes with antagonizing activities regulate stability and activity of the tumor suppressor LKB1.

Gaude H et al.

Oncogene, 2012

Posttranslational negative regulation of glycosylated and non-glycosylated BCRP expression by Derlin-1.

Sugiyama T et al.

Biochemical and Biophysical Research Communications, 2011

The chaperone-dependent ubiquitin ligase CHIP targets HIF-1α for degradation in the presence of methylglyoxal.

Bento CF et al.

Plos One, 2010

Quality control for unfolded proteins at the plasma membrane.

Apaja PM et al.

The Journal of Cell Biology, 2010

Hsp70 and CHIP selectively mediate ubiquitination and degradation of hypoxia-inducible factor (HIF)-1alpha but Not HIF-2alpha.

Luo W et al.

The Journal of Biological Chemistry, 2010

CHIP functions an E3 ubiquitin ligase of Runx1.

Shang Y et al.

Biochemical and Biophysical Research Communications, 2009

Regulation of LRRK2 stability by the E3 ubiquitin ligase CHIP.

Ding X et al.

Plos One, 2009

CHIP-mediated degradation and DNA damage-dependent stabilization regulate base excision repair proteins.

Parsons JL et al.

Molecular Cell, 2008

CHIP controls the sensitivity of transforming growth factor-beta signaling by modulating the basal level of Smad3 through ubiquitin-mediated degradation.

Xin H et al.

The Journal of Biological Chemistry, 2005

CHIP-Hsc70 complex ubiquitinates phosphorylated tau and enhances cell survival.

Shimura H et al.

The Journal of Biological Chemistry, 2004

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