Varaico: Literature-Extracted Genetic Variants

Gene:ARF1
Variant:p.T31N
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ARF1

NM_001658.4:p.T31N

Associated Papers

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

Lang J et al.

Embo Reports, 2025

40128408 (PubMed )
Supplement: 44319_2025_423_MOESM2_ESM.pdf

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

Biogenesis of specialized lysosomes in differentiated keratinocytes relies on close apposition with the Golgi apparatus.

Mahanty S et al.

Cell Death & Disease, 2024

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

Hirschenberger M et al.

Nature Communications, 2023

ARF1-related disorder: phenotypic and molecular spectrum.

de Sainte Agathe JM et al.

Journal of Medical Genetics, 2023

Arf1 coordinates fatty acid metabolism and mitochondrial homeostasis.

Enkler L et al.

Nature Cell Biology, 2023

37400497 (PubMed )
Supplement: 41556_2023_1180_MOESM20_ESM.xlsx › Supplementary_Table_1

The crescent-like Golgi ribbon is shaped by the Ajuba/PRMT5/Aurora-A complex-modified HURP.

Chiu SC et al.

Cell Communication and Signaling : Ccs, 2023

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

Ishida M et al.

Human Molecular Genetics, 2023

Characterization of lipoprotein lipase storage vesicles in 3T3-L1 adipocytes.

Roberts BS et al.

Journal of Cell Science, 2022

34382637 (PubMed )
Supplement: supplement_1.pdf

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

Moreno-Layseca P et al.

Nature Cell Biology, 2021

Unconventional p97/VCP-Mediated Endoplasmic Reticulum-to-Endosome Trafficking of a Retroviral Protein.

Xu WK et al.

Journal of Virology, 2021

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

Saha K et al.

Frontiers in Physiology, 2021

ARF family GTPases with links to cilia.

Fisher S et al.

American Journal of Physiology. Cell Physiology, 2020

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

Sathe M et al.

Nature Communications, 2018

Exchange factor EFA6R requires C-terminal targeting to the plasma membrane to promote cytoskeletal rearrangement through the activation of ADP-ribosylation factor 6 (ARF6).

Kanamarlapudi V

The Journal of Biological Chemistry, 2014

Adaptor protein complexes and intracellular transport.

Park SY et al.

Bioscience Reports, 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

GTP-binding-defective ARL4D alters mitochondrial morphology and membrane potential.

Li CC et al.

Plos One, 2012

Novel C-terminal motif within Sec7 domain of guanine nucleotide exchange factors regulates ADP-ribosylation factor (ARF) binding and activation.

Lowery J et al.

The Journal of Biological Chemistry, 2011

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

Boulay PL et al.

Oncogene, 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

Recent progress in understanding protein and lipid factors affecting hepatic VLDL assembly and secretion.

Sundaram M et al.

Nutrition & Metabolism, 2010

Interaction of brefeldin A-inhibited guanine nucleotide-exchange protein (BIG) 1 and kinesin motor protein KIF21A.

Shen X et al.

Proceedings of the National Academy of Sciences of the United States of America, 2008

ARF1 is directly involved in dynamin-independent endocytosis.

Kumari S et al.

Nature Cell Biology, 2008

Role of the conserved NPxxY motif of the 5-HT2A receptor in determining selective interaction with isoforms of ADP-ribosylation factor (ARF).

Johnson MS et al.

Cellular Signalling, 2006

The role of ARF1 and rab GTPases in polarization of the Golgi stack.

Bannykh SI et al.

Traffic (copenhagen, Denmark), 2005

Dissection of membrane dynamics of the ARF-guanine nucleotide exchange factor GBF1.

Szul T et al.

Traffic (copenhagen, Denmark), 2005

The structure of RalF, an ADP-ribosylation factor guanine nucleotide exchange factor from Legionella pneumophila, reveals the presence of a cap over the active site.

Amor JC et al.

The Journal of Biological Chemistry, 2005

The trihelical bundle subdomain of the GGA proteins interacts with multiple partners through overlapping but distinct sites.

Mattera R et al.

The Journal of Biological Chemistry, 2004

Selective interaction of ARF1 with the carboxy-terminal tail domain of the 5-HT2A receptor.

Robertson DN et al.

Molecular Pharmacology, 2003

The guanine nucleotide exchange factor ARNO mediates the activation of ARF and phospholipase D by insulin.

Li HS et al.

Bmc Cell Biology, 2003

Regulation of Golgi structure and function by ARF-like protein 1 (Arl1).

Lu L et al.

Journal of Cell Science, 2001

A regulatory role for ADP-ribosylation factor 6 (ARF6) in activation of the phagocyte NADPH oxidase.

Dana RR et al.

The Journal of Biological Chemistry, 2000

COP I domains required for coatomer integrity, and novel interactions with ARF and ARF-GAP.

Eugster A et al.

The Embo Journal, 2000

GGAs: a family of ADP ribosylation factor-binding proteins related to adaptors and associated with the Golgi complex.

Dell'Angelica EC et al.

The Journal of Cell Biology, 2000

ARF6 requirement for Rac ruffling suggests a role for membrane trafficking in cortical actin rearrangements.

Radhakrishna H et al.

Journal of Cell Science, 1999

Colocalization of phospholipase D1 and GTP-binding-defective mutant of ADP-ribosylation factor 6 to endosomes and lysosomes.

Toda K et al.

Febs Letters, 1999

The distribution and translocation of the G protein ADP-ribosylation factor 1 in live cells is determined by its GTPase activity.

Vasudevan C et al.

Journal of Cell Science, 1998

ADP-ribosylation factor-1 stimulates formation of nascent secretory vesicles from the trans-Golgi network of endocrine cells.

Chen YG et al.

The Journal of Biological Chemistry, 1996

Dominant inhibitory mutants of ARF1 block endoplasmic reticulum to Golgi transport and trigger disassembly of the Golgi apparatus.

Dascher C et al.

The Journal of Biological Chemistry, 1994

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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."