Varaico: Literature-Extracted Genetic Variants

Gene:ARF1
Variant:p.Q71L
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ARF1

NM_001658.4:p.Q71L

Associated Papers

Structural basis for the dynamic conformations of AP-4 and its association with ARF1.

Wang Y et al.

Nature Communications, 2026

A Commander-independent function of COMMD3 in endosomal trafficking.

Squiers GT et al.

Elife, 2025

Distinct pathogenic mutations in ARF1 allow dissection of its dual role in cGAS-STING signalling.

Lang J et al.

Embo Reports, 2025

A structure-based mechanism for initiation of AP-3 coated vesicle formation.

Begley M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

Arf1-dependent LRBA recruitment to Rab4 endosomes is required for endolysosome homeostasis.

Szentgyörgyi V et al.

The Journal of Cell Biology, 2024

Clathrin-associated carriers enable recycling through a kiss-and-run mechanism.

Xu J et al.

Nature Cell Biology, 2024

Specific kinesin and dynein molecules participate in the unconventional protein secretion of transmembrane proteins.

Eun SH et al.

The Korean Journal of Physiology & Pharmacology : Official Journal of the Korean Physiological Society and the Korean Society of Pharmacology, 2024

A structure-based mechanism for initiation of AP-3 coated vesicle formation.

Begley M et al.

Biorxiv : the Preprint Server for Biology, 2024

Mapping the global interactome of the ARF family reveals spatial organization in cellular signaling pathways.

Quirion L et al.

Journal of Cell Science, 2024

Mapping the global interactome of the ARF family reveals spatial organization in cellular signaling pathways.

Quirion L et al.

Biorxiv : the Preprint Server for Biology, 2024

ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling.

Hirschenberger M et al.

Nature Communications, 2023

Kinetics of Arf1 inactivation regulates Golgi organisation and function in non-adherent fibroblasts.

B R R et al.

Biology Open, 2023

A neurodevelopmental disorder associated with an activating de novo missense variant in ARF1.

Ishida M et al.

Human Molecular Genetics, 2023

Clathrin-associated AP-1 controls termination of STING signalling.

Liu Y et al.

Nature, 2022

TMED3 Complex Mediates ER Stress-Associated Secretion of CFTR, Pendrin, and SARS-CoV-2 Spike.

Park H et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2022

The many hats of transmembrane emp24 domain protein TMED9 in secretory pathway homeostasis.

Roberts BS et al.

Frontiers in Cell and Developmental Biology, 2022

GRASP55 regulates intra-Golgi localization of glycosylation enzymes to control glycosphingolipid biosynthesis.

Pothukuchi P et al.

The Embo Journal, 2021

Cargo-specific recruitment in clathrin- and dynamin-independent endocytosis.

Moreno-Layseca P et al.

Nature Cell Biology, 2021

Assembly of γ-secretase occurs through stable dimers after exit from the endoplasmic reticulum.

Wouters R et al.

The Journal of Cell Biology, 2021

Structural basis for the ARF GAP activity and specificity of the C9orf72 complex.

Su MY et al.

Nature Communications, 2021

Constitutive Endocytosis of the Neuronal Glutamate Transporter Excitatory Amino Acid Transporter-3 Requires ARFGAP1.

Saha K et al.

Frontiers in Physiology, 2021

Structure of the C9orf72 ARF GAP complex that is haploinsufficient in ALS and FTD.

Su MY et al.

Nature, 2020

TANGO1 and SEC12 are copackaged with procollagen I to facilitate the generation of large COPII carriers.

Yuan L et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

Small GTPases and BAR domain proteins regulate branched actin polymerisation for clathrin and dynamin-independent endocytosis.

Sathe M et al.

Nature Communications, 2018

Specific autophagy and ESCRT components participate in the unconventional secretion of CFTR.

Noh SH et al.

Autophagy, 2018

In vivo monitoring of the recruitment and activation of AP-1 by Arf1.

Sauvageau E et al.

Scientific Reports, 2017

MARTX effector cross kingdom activation by Golgi-associated ADP-ribosylation factors.

Kim BS et al.

Cellular Microbiology, 2016

Inhibition of Cytohesins Protects against Genetic Models of Motor Neuron Disease.

Zhai J et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2015

Golgi fragmentation in pmn mice is due to a defective ARF1/TBCE cross-talk that coordinates COPI vesicle formation and tubulin polymerization.

Bellouze S et al.

Human Molecular Genetics, 2014

ERK8 is a negative regulator of O-GalNAc glycosylation and cell migration.

Chia J et al.

Elife, 2014

CLN3 deficient cells display defects in the ARF1-Cdc42 pathway and actin-dependent events.

Schultz ML et al.

Plos One, 2014

Proteolytic elimination of N-myristoyl modifications by the Shigella virulence factor IpaJ.

Burnaevskiy N et al.

Nature, 2013

BIG1, a brefeldin A-inhibited guanine nucleotide-exchange protein modulates ATP-binding cassette transporter A-1 trafficking and function.

Lin S et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2013

The BAR domain protein Arfaptin-1 controls secretory granule biogenesis at the trans-Golgi network.

Gehart H et al.

Developmental Cell, 2012

An ARF6/Rab35 GTPase cascade for endocytic recycling and successful cytokinesis.

Chesneau L et al.

Current Biology : Cb, 2012

ARF1 controls proliferation of breast cancer cells by regulating the retinoblastoma protein.

Boulay PL et al.

Oncogene, 2011

Molecular basis of phosphatidylinositol 4-phosphate and ARF1 GTPase recognition by the FAPP1 pleckstrin homology (PH) domain.

He J et al.

The Journal of Biological Chemistry, 2011

Multiple cytosolic and transmembrane determinants are required for the trafficking of SCAMP1 via an ER-Golgi-TGN-PM pathway.

Cai Y et al.

The Plant Journal : for Cell and Molecular Biology, 2011

COPI-mediated retrograde trafficking from the Golgi to the ER regulates EGFR nuclear transport.

Wang YN et al.

Biochemical and Biophysical Research Communications, 2010

Phosphatidylinositol- and phosphatidylcholine-transfer activity of PITPbeta is essential for COPI-mediated retrograde transport from the Golgi to the endoplasmic reticulum.

Carvou N et al.

Journal of Cell Science, 2010

Role of the second cysteine-rich domain and Pro275 in protein kinase D2 interaction with ADP-ribosylation factor 1, trans-Golgi network recruitment, and protein transport.

Pusapati GV et al.

Molecular Biology of the Cell, 2010

GBF1, a guanine nucleotide exchange factor for Arf, is crucial for coxsackievirus B3 RNA replication.

Lanke KH et al.

Journal of Virology, 2009

Ischemia-reperfusion-inducible protein modulates cell sensitivity to anticancer drugs by regulating activity of efflux transporter.

Prokopenko O et al.

American Journal of Physiology. Cell Physiology, 2009

ARF6 Interacts with JIP4 to control a motor switch mechanism regulating endosome traffic in cytokinesis.

Montagnac G et al.

Current Biology : Cb, 2009

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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."