ARF1

Summary

ARF1 (ARF GTPase 1, HGNC:652) is a protein-coding gene on chromosome 1q42.13, encoding ADP-ribosylation factor 1 (P84077). Small GTPase involved in protein trafficking between different compartments. It is a selective cancer dependency (DepMap: 30.5% of cell lines).

ADP-ribosylation factor 1 (ARF1) is a member of the human ARF gene family. The family members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking as activators of phospholipase D. The gene products, including 6 ARF proteins and 11 ARF-like proteins, constitute a family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2 and ARF3), class II (ARF4 and ARF5) and class III (ARF6), and members of each class share a common gene organization. The ARF1 protein is localized to the Golgi apparatus and has a central role in intra-Golgi transport. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene.

Source: NCBI Gene 375 — RefSeq curated summary.

At a glance

• Gene–disease (curated): periventricular nodular heterotopia (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 2
• Clinical variants (ClinVar): 45 total — 7 pathogenic, 5 likely-pathogenic
• Phenotypes (HPO): 25
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 30.5% of screened cell lines
• MANE Select transcript: NM_001658

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:652
Approved symbol	ARF1
Name	ARF GTPase 1
Location	1q42.13
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000143761
Ensembl biotype	protein_coding
OMIM	103180
Entrez	375

Gene structure

Transcript identifiers

Ensembl transcripts: 43 — 42 protein_coding, 1 retained_intron

ENST00000272102, ENST00000469235, ENST00000470558, ENST00000470670, ENST00000473546, ENST00000473949, ENST00000477451, ENST00000478336, ENST00000478424, ENST00000482962, ENST00000490705, ENST00000497165, ENST00000862334, ENST00000862335, ENST00000862336, ENST00000862337, ENST00000862338, ENST00000862339, ENST00000862340, ENST00000862341, ENST00000862342, ENST00000862343, ENST00000862344, ENST00000862345, ENST00000862346, ENST00000862347, ENST00000862348, ENST00000862349, ENST00000862350, ENST00000862351, ENST00000862352, ENST00000862353, ENST00000862354, ENST00000862355, ENST00000926347, ENST00000926348, ENST00000926349, ENST00000926350, ENST00000953456, ENST00000953457, ENST00000953458, ENST00000953459, ENST00000953460

RefSeq mRNA: 4 — MANE Select: NM_001658 NM_001024226, NM_001024227, NM_001024228, NM_001658

CCDS: CCDS1565

Canonical transcript exons

ENST00000272102 — 5 exons

Exon	Start	End
ENSE00001015362	228082708	228082765
ENSE00001908017	228097852	228099212
ENSE00003473670	228097078	228097262
ENSE00003625230	228097591	228097715
ENSE00003646335	228097342	228097452

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 99.62.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 300.1295 / max 1290.5057, expressed in 1827 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
8908	292.5773	1827
8909	4.9449	1367
8917	1.6616	937
8911	0.5651	149
8912	0.2887	59
8910	0.0338	10
8913	0.0297	12
201981	0.0284	6

Top tissues by expression

295 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
adult organism	UBERON:0007023	99.62	gold quality
ileal mucosa	UBERON:0000331	99.57	gold quality
stromal cell of endometrium	CL:0002255	99.51	gold quality
cardiac muscle of right atrium	UBERON:0003379	99.43	gold quality
type B pancreatic cell	CL:0000169	99.36	gold quality
pituitary gland	UBERON:0000007	99.35	gold quality
adenohypophysis	UBERON:0002196	99.35	gold quality
corpus epididymis	UBERON:0004359	99.32	gold quality
right lung	UBERON:0002167	99.28	gold quality
upper lobe of lung	UBERON:0008948	99.27	gold quality
upper lobe of left lung	UBERON:0008952	99.27	gold quality
decidua	UBERON:0002450	99.26	gold quality
islet of Langerhans	UBERON:0000006	99.24	gold quality
left uterine tube	UBERON:0001303	99.24	gold quality
caput epididymis	UBERON:0004358	99.24	gold quality
endocervix	UBERON:0000458	99.23	gold quality
nasal cavity epithelium	UBERON:0005384	99.23	gold quality
monocyte	CL:0000576	99.22	gold quality
mononuclear cell	CL:0000842	99.21	gold quality
colonic mucosa	UBERON:0000317	99.21	gold quality
palpebral conjunctiva	UBERON:0001812	99.21	gold quality
left testis	UBERON:0004533	99.21	gold quality
prefrontal cortex	UBERON:0000451	99.20	gold quality
ascending aorta	UBERON:0001496	99.20	gold quality
thoracic aorta	UBERON:0001515	99.20	gold quality
placenta	UBERON:0001987	99.20	gold quality
body of uterus	UBERON:0009853	99.20	gold quality
leukocyte	CL:0000738	99.19	gold quality
body of pancreas	UBERON:0001150	99.19	gold quality
right testis	UBERON:0004534	99.19	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-122	yes	20.91
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC, ZBTB2

miRNA regulators (miRDB)

49 targeting ARF1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-12121	99.99	66.64	255
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-636	99.80	69.58	1500
HSA-MIR-323A-3P	99.79	70.30	1739
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 30.5% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 40)

• A senescence rescue screen identifies BCL6 as an inhibitor of anti-proliferative p19(ARF)-p53 signaling (PMID:11914273)
• ARF1 has a role in phospholipase D activation by the M3 muscarinic receptor (PMID:12799371)
• human ARF tumor suppressor binds to Tat-binding protein-1 and has a role in control of cell proliferation (PMID:14665636)
• Overexpression of SPN causes activation of the tumor suppressor protein ARF1. (PMID:14676827)
• crystal structure of the ARF1*GDP*Sec7*Brefeldin A (BFA)complex shows that BFA binds at the protein-protein interface to inhibit conformational changes in ARF1 required for Sec7 to dislodge the GDP molecule (PMID:14690595)
• Results from NMR experiments presented on ADP-ribosylation factor 1 (Arf1).GDP and Delta17Arf1.GDP in solution reveal substantial structural differences that can only be associated with N-terminal truncation. (PMID:15308674)
• GDP-bound ARF1 induces dissociation of ADRP from the Lipid droplet surface;. (PMID:15336557)
• Binding of Arf1 to phosphatidylinositol (4,5) bisphosphate can promote the nucleotide exchange process and facilitate activation of Arfs with associated conformational changes and possible alteration in position and stability of Arf1 N-terminal helix. (PMID:15581351)
• Arf1 mRNA is a natural target for Stau1-mediated decay, and data indicate that other mRNAs are also natural targets. (PMID:15680326)
• These studies suggest that membrin recruits Arf-1 to the early Golgi and reveal distinct kinetic cycles for Arf-1 at early and late Golgi determined by different sets of Arf regulators and effectors. (PMID:15781476)
• The ADP-Ribosylation Factor 1 acts as a master regulator of Golgi structure and function through the recruitment and activation of various downstream effectors. (PMID:15793564)
• CTLA-4 may be stored in a specialized compartment in regulatory T cells that can be triggered rapidly for deployment to the plasma membrane in a phospholipase D- and ADP ribosylation factor-1-dependent manner (PMID:15814706)
• MdmX can affect post-translational modification and stability of Mdm2 and p53 activity through interaction with ARF (PMID:15876864)
• Analysis of the four possible conformations of the human ARF1 N-terminal peptide by molecular dynamics simulations to distinguish which of the four possible membrane bound structures was the most likely. (PMID:16308272)
• N376 to D mutation in the conserved NPxxY motif within the carboxy terminal tail domain (CT) of the 5-HT2A receptor alters the binding preference of GST-fusion protein constructs of the CT domain from ARF1 to an alternative isoform, ARF6. (PMID:16545942)
• A phosphatidylinositol-3-kinase-dependent signal transition defines the sequence of ARF1 activation during phagocytosis. (PMID:16669702)
• Data show that the architecture of the vimentin cytoskeleton is modified by perturbation of the GTPase ARF1. (PMID:16912072)
• Arf1-GTP-ASAP1 undergoes a significant conformational change when transitioning from the ground to catalytically active state (PMID:17112341)
• Coatomer is linked to the Golgi through multiple interfaces with membrane-bound Arf1-GTP. (PMID:17451557)
• Enhanced the stimulatory effect of 1-Phosphatidylinositol 4-Kinase on regulated exocytosis. (PMID:17555535)
• p24A is a regulator of signal-dependent trafficking that controls ARF1-dependent resensitization of PAR-2 (PMID:17693410)
• These results suggest that KIAA1110 is expressed specifically in mature neurons and may play an important role in the secretion pathway as a GEF for ARF1. (PMID:17981261)
• siRNAs demonstrate that GBF1-mediated ARF1 activation is required for efficient MHV RNA replication (PMID:18551169)
• Arf1 and Arf6 were shown to load GTP in a membrane-curvature-dependent manner and stabilize, or further facilitate, changes in membrane curvature through the insertion of an amphipathic helix. (PMID:18597672)
• Arf1-GTP induces positive membrane curvature and find that the small GTPase can dimerize dependent on GTP (PMID:18689681)
• Arf1-GTP-induced tubule formation suggests a function of Arf family proteins in curvature acquisition at sites of vesicle budding. (PMID:18693248)
• ARF1 regulates epidermal growth factor-dependent breast cancer cell growth and invasion during cancer progression by controlling the activation of the phosphatidylinositol 3-kinase pathway (PMID:18990689)
• present the structure of a myristoylated ARF1 protein, determined by solution NMR methods, and an assessment of the influence of myristoylation on association of ARF1.GDP and ARF1.GTP with lipid bilayers (PMID:19141284)
• ARF1 may play a critical role in clathrin-mediated cholera toxin (CT) trafficking through the endoplasmic reticulum and Golgi and ARF6 may facilitate clathrin-mediated CT endocytosis that leads to enhanced Gs(alpha) activation by CT. (PMID:19359423)
• Data suggest a novel model in which ARF1 recruits PKD2 to the TGN by binding to Pro275 in its C1b domain followed by anchoring of PKD2 in the TGN membranes via binding of its C1a domain to diacylglycerol. (PMID:20089835)
• The authors demonstrate that Rab1b-activated GBF1 and ARF1 are involved in Ebolavirus virion formation, suggesting that both the COPII and COPI transport systems play a role in Ebolavirus VP40-mediated particle formation. (PMID:20164217)
• analysis of how modifications to the C-terminus of Arf1 alter cell functions and protein interactions (PMID:20214751)
• Protein complexes containing CYFIP/Sra/PIR121 coordinate Arf1 and Rac1 signalling during clathrin-AP-1-coated carrier biogenesis at the trans-golgi network. (PMID:20228810)
• Data demonstrate a key role of Rab and Arf family small GTPases and intracellular trafficking in mTORC1 activation. (PMID:20457610)
• Vascular endothelial growth factor receptor-2 activates ADP-ribosylation factor 1 to promote endothelial nitric-oxide synthase activation and nitric oxide release from endothelial cells (PMID:20529868)
• Insight into the role of dynamics in the conformational switch of the small GTP-binding protein Arf1. (PMID:20861011)
• Arf1 regulates PLA2G6-A activity together with Arf4; and gene silencing of Arf1 was shown to alter cytosolic coat protein I subunit recruitment to the early secretory pathway. (PMID:20881058)
• These data provide novel insights into the role of Arf1 in the regulation of viral RNA replication and the production of infectious hepatitis C virus. (PMID:21068255)
• Molecular basis of phosphatidylinositol 4-phosphate and ARF1 GTPase recognition by the FAPP1 pleckstrin homology (PH) domain. (PMID:21454700)
• ARF1 controls proliferation of breast cancer cells by regulating the retinoblastoma protein (PMID:21478909)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	arf2a	ENSDARG00000014763
mus_musculus	Arf1	ENSMUSG00000048076
rattus_norvegicus		ENSRNOG00000063798
drosophila_melanogaster	Arf1	FBGN0010348
caenorhabditis_elegans		WBGENE00000182

Paralogs (30): ARF5 (ENSG00000004059), SAR1A (ENSG00000079332), ARFRP1 (ENSG00000101246), TRIM23 (ENSG00000113595), ARL6 (ENSG00000113966), ARL1 (ENSG00000120805), ARL4A (ENSG00000122644), ARL8B (ENSG00000134108), ARF3 (ENSG00000134287), ARL3 (ENSG00000138175), ARL5C (ENSG00000141748), ARL8A (ENSG00000143862), ARL11 (ENSG00000152213), SAR1B (ENSG00000152700), ARL5A (ENSG00000162980), ARF6 (ENSG00000165527), ARL5B (ENSG00000165997), ARF4 (ENSG00000168374), ARL13B (ENSG00000169379), ARL13A (ENSG00000174225), ARL10 (ENSG00000175414), ARL4D (ENSG00000175906), ARL14 (ENSG00000179674), ARL15 (ENSG00000185305), ARL17A (ENSG00000185829), ARL4C (ENSG00000188042), ARL9 (ENSG00000196503), ARL2 (ENSG00000213465), ARL16 (ENSG00000214087), ARL17B (ENSG00000228696)

Protein

Protein identifiers

ADP-ribosylation factor 1 — P84077 (reviewed: P84077)

All UniProt accessions (8): P84077, A0A8V8TNZ0, A0A8V8TNZ5, A0A8V8TP92, A0A8V8TP99, A0A8V8TPG9, A0A8V8TQC0, A0A8V8TQP8

UniProt curated annotations — full annotation on UniProt →

Function. Small GTPase involved in protein trafficking between different compartments. Modulates vesicle budding and uncoating within the Golgi complex. In its GTP-bound form, triggers the recruitment of coatomer proteins to the Golgi membrane. The hydrolysis of ARF1-bound GTP, which is mediated by ARFGAPs proteins, is required for dissociation of coat proteins from Golgi membranes and vesicles. The GTP-bound form interacts with PICK1 to limit PICK1-mediated inhibition of Arp2/3 complex activity; the function is linked to AMPA receptor (AMPAR) trafficking, regulation of synaptic plasticity of excitatory synapses and spine shrinkage during long-term depression (LTD). Plays a key role in the regulation of intestinal stem cells and gut microbiota, and is essential for maintaining intestinal homeostasis. Also plays a critical role in mast cell expansion but not in mast cell maturation by facilitating optimal mTORC1 activation. (Microbial infection) Functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase.

Subunit / interactions. Interacts (when activated) with GGA1, GGA2 and GGA3; the interaction is required for proper subcellular location of GGA1, GGA2 and GGA3. Interacts with ARHGAP21, ASAP2, HERC1, PRKCABP, PIP5K1B, TMED2, PSCD2, TMED10 and GRIA2. Interacts with ARFGAP1, which hydrolyzes GTP and thus, regulates its function. Interacts with PI4KB in the Golgi complex. Interacts with NCS1/FREQ in the Golgi and at the plasma membrane. Interacts with PLEKHA3. Interacts with PLEKHA8; the interaction, together with phosphatidylinositol 4-phosphate binding, is required for FAPP2-mediated glucosylceramide transfer activity. Interacts (activated) with PICK1 (via PDZ domain); the interaction blocks Arp2/3 complex inhibition. Interacts with IQSEC1. Interacts with C9orf72.

Subcellular location. Golgi apparatus membrane. Synapse. Synaptosome. Postsynaptic density.

Post-translational modifications. (Microbial infection) Demyristoylated by S.flexneri cysteine protease IpaJ which cleaves the peptide bond between N-myristoylated Gly-2 and Asn-3.

Disease relevance. Periventricular nodular heterotopia 8 (PVNH8) [MIM:618185] A form of periventricular nodular heterotopia, a disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches. PVNH8 is an autosomal dominant disease characterized by developmental disabilities, speech delay, seizures and attention deficit-hyperactivity disorder. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Alternates between an inactive GDP-bound form and an active GTP-bound form. Intrinsic GTPase activity is almost undetectable in vitro. Activated by guanine nucleotide-exchange factors (GEFs) and inactivated by GTPase-activating proteins (GAPs).

Similarity. Belongs to the small GTPase superfamily. Arf family.

RefSeq proteins (4): NP_001019397, NP_001019398, NP_001019399, NP_001649* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005225	Small_GTP-bd	Domain
IPR006689	Small_GTPase_ARF/SAR	Family
IPR024156	Small_GTPase_ARF	Family
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR045872	Arf1-5-like	Family

Pfam: PF00025

Catalyzed reactions (Rhea), 1 shown:

• GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)

UniProt features (32 total): strand 9, helix 8, sequence variant 3, turn 3, binding site 3, initiator methionine 1, chain 1, mutagenesis site 1, region of interest 1, modified residue 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

40 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
8SDW	X-RAY DIFFRACTION	1.75
1HUR	X-RAY DIFFRACTION	2
7R4H	ELECTRON MICROSCOPY	2.34
6FAE	X-RAY DIFFRACTION	2.35
1RE0	X-RAY DIFFRACTION	2.4
9QLO	ELECTRON MICROSCOPY	2.47
9QLQ	ELECTRON MICROSCOPY	2.57
7DN8	X-RAY DIFFRACTION	2.61
9QLP	ELECTRON MICROSCOPY	2.75
3O47	X-RAY DIFFRACTION	2.8
7DN9	X-RAY DIFFRACTION	3.29
6CM9	ELECTRON MICROSCOPY	3.73
6DFF	ELECTRON MICROSCOPY	3.9
7MGE	ELECTRON MICROSCOPY	3.94
9C5A	ELECTRON MICROSCOPY	4.2
6D83	ELECTRON MICROSCOPY	4.27
9C59	ELECTRON MICROSCOPY	4.3
9C5B	ELECTRON MICROSCOPY	4.5
9C58	ELECTRON MICROSCOPY	4.7
9U9R	ELECTRON MICROSCOPY	6.6
6D84	ELECTRON MICROSCOPY	6.72
6CRI	ELECTRON MICROSCOPY	6.8
9U9S	ELECTRON MICROSCOPY	6.8
4HMY	X-RAY DIFFRACTION	7
9RTW	ELECTRON MICROSCOPY	7.4
9QPQ	ELECTRON MICROSCOPY	7.5
9RTX	ELECTRON MICROSCOPY	8.5
9RTY	ELECTRON MICROSCOPY	8.9
8D4E	ELECTRON MICROSCOPY	9.2
8D4C	ELECTRON MICROSCOPY	9.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P84077-F1	85.93	0.57

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (3): 24–32; 126–129; 160

Post-translational modifications (2): 2, 2

Mutagenesis-validated functional residues (1):

Position	Phenotype
71	inhibits gtp hydrolysis. coatomer proteins recruitment to the golgi membrane and formation of coated vesicles are normal

Function

Pathways and Gene Ontology

Reactome pathways

39 pathways

ID	Pathway
R-HSA-1660499	Synthesis of PIPs at the plasma membrane
R-HSA-1660514	Synthesis of PIPs at the Golgi membrane
R-HSA-167590	Nef Mediated CD4 Down-regulation
R-HSA-199992	trans-Golgi Network Vesicle Budding
R-HSA-2132295	MHC class II antigen presentation
R-HSA-432720	Lysosome Vesicle Biogenesis
R-HSA-432722	Golgi Associated Vesicle Biogenesis
R-HSA-6807878	COPI-mediated anterograde transport
R-HSA-6811434	COPI-dependent Golgi-to-ER retrograde traffic
R-HSA-6811438	Intra-Golgi traffic
R-HSA-8950505	Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
R-HSA-9845576	Glycosphingolipid transport
R-HSA-1280215	Cytokine Signaling in Immune system
R-HSA-1280218	Adaptive Immune System
R-HSA-1430728	Metabolism
R-HSA-1483255	PI Metabolism
R-HSA-1483257	Phospholipid metabolism
R-HSA-162906	HIV Infection
R-HSA-162909	Host Interactions of HIV factors
R-HSA-1643685	Disease
R-HSA-164938	Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters
R-HSA-164952	The role of Nef in HIV-1 replication and disease pathogenesis
R-HSA-168256	Immune System
R-HSA-199977	ER to Golgi Anterograde Transport
R-HSA-199991	Membrane Trafficking
R-HSA-382551	Transport of small molecules
R-HSA-392499	Metabolism of proteins
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-447115	Interleukin-12 family signaling
R-HSA-449147	Signaling by Interleukins

MSigDB gene sets: 358 (showing top): GOBP_MITOTIC_CYTOKINESIS, GOBP_CELLULAR_RESPONSE_TO_VIRUS, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_REGULATION_OF_ACTIN_NUCLEATION, HSIAO_HOUSEKEEPING_GENES, KYNG_DNA_DAMAGE_DN, REACTOME_THE_ROLE_OF_NEF_IN_HIV_1_REPLICATION_AND_DISEASE_PATHOGENESIS, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, CACCAGC_MIR138, CTATGCA_MIR153, GOBP_CYTOKINETIC_PROCESS, YY1_Q6

GO Biological Process (10): regulation of receptor internalization (GO:0002090), intracellular copper ion homeostasis (GO:0006878), intracellular protein transport (GO:0006886), vesicle-mediated transport (GO:0016192), regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315), long-term synaptic depression (GO:0060292), dendritic spine organization (GO:0097061), cellular response to virus (GO:0098586), mitotic cleavage furrow ingression (GO:1990386), protein transport (GO:0015031)

GO Molecular Function (9): magnesium ion binding (GO:0000287), RNA binding (GO:0003723), GTPase activity (GO:0003924), G protein activity (GO:0003925), GTP binding (GO:0005525), protein domain specific binding (GO:0019904), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (15): Golgi membrane (GO:0000139), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), focal adhesion (GO:0005925), postsynaptic density (GO:0014069), sarcomere (GO:0030017), cell leading edge (GO:0031252), protein-containing complex (GO:0032991), neuron projection (GO:0043005), extracellular exosome (GO:0070062), Golgi apparatus (GO:0005794), endomembrane system (GO:0012505), membrane (GO:0016020), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-15 pathways:

Category	Pathways
PI Metabolism	2
trans-Golgi Network Vesicle Budding	2
Immune System	2
Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters	1
Membrane Trafficking	1
Adaptive Immune System	1
ER to Golgi Anterograde Transport	1
Golgi-to-ER retrograde transport	1
Intra-Golgi and retrograde Golgi-to-ER traffic	1
Interleukin-12 signaling	1
Transport of small molecules	1
Phospholipid metabolism	1
Metabolism of lipids	1
Viral Infection Pathways	1
HIV Infection	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
intracellular protein localization	2
transport	2
cytoplasm	2
receptor internalization	1
regulation of receptor-mediated endocytosis	1
intracellular monoatomic cation homeostasis	1
copper ion homeostasis	1
protein transport	1
intracellular transport	1
cellular process	1
Arp2/3 complex-mediated actin nucleation	1
regulation of actin nucleation	1
regulation of synaptic plasticity	1
negative regulation of synaptic transmission	1
postsynapse organization	1
neuron projection organization	1
response to virus	1
cleavage furrow ingression	1
mitotic cytokinetic process	1
establishment of protein localization	1
metal ion binding	1
nucleic acid binding	1
ribonucleoside triphosphate phosphatase activity	1
GTPase activity	1
molecular function regulator activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
protein binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
catalytic activity	1
Golgi apparatus	1
bounding membrane of organelle	1
intracellular anatomical structure	1
membrane	1
cell periphery	1
cell-substrate junction	1
asymmetric synapse	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

127 interactions, top by confidence:

A	B	Type	Score
AP1B1	Ap1g1	psi-mi:“MI:0915”(physical association)	0.740
LYRM2	NDUFAB1	psi-mi:“MI:0914”(association)	0.730
ARF1	CYTH2	psi-mi:“MI:0407”(direct interaction)	0.720
CYTH2	ARF1	psi-mi:“MI:0915”(physical association)	0.720
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
LRIF1	SMCHD1	psi-mi:“MI:0914”(association)	0.680
Ap1g1	Ap1m1	psi-mi:“MI:0914”(association)	0.660
LYRM7	NDUFAB1	psi-mi:“MI:0914”(association)	0.640
ARF1	ARFIP2	psi-mi:“MI:0915”(physical association)	0.620
ARF1	ARFIP2	psi-mi:“MI:0914”(association)	0.620
RAB8A	WDR91	psi-mi:“MI:0914”(association)	0.600
ARF5	ARF4	psi-mi:“MI:0914”(association)	0.530
VCAM1	PSMD11	psi-mi:“MI:0914”(association)	0.530
ARF1	ARFIP1	psi-mi:“MI:0915”(physical association)	0.520
ARFIP1	ARF1	psi-mi:“MI:0915”(physical association)	0.520
SNAP25	ARF1	psi-mi:“MI:0914”(association)	0.510
ARF1	SNAP25	psi-mi:“MI:0914”(association)	0.510
SNAP25	ARF1	psi-mi:“MI:0403”(colocalization)	0.510
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
	AP3D1	psi-mi:“MI:0914”(association)	0.460
	MYL12B	psi-mi:“MI:0914”(association)	0.460

BioGRID (358): ARF1 (Affinity Capture-MS), ARF1 (Reconstituted Complex), ARF1 (Reconstituted Complex), ARF1 (Reconstituted Complex), ARF1 (Affinity Capture-MS), ARF1 (Affinity Capture-RNA), ACADM (Co-fractionation), AHSA1 (Co-fractionation), ARF1 (Co-fractionation), ARF1 (Co-fractionation), ARF4 (Co-fractionation), ARF5 (Co-fractionation), ARFGAP1 (Co-fractionation), ARFGAP2 (Co-fractionation), ARFGAP3 (Co-fractionation)

ESM2 similar proteins: O00909, O23778, O48649, O48920, P0CM16, P0CM17, P0DH91, P11076, P18085, P19146, P22274, P36397, P36579, P49076, P49702, P51643, P51644, P51821, P51822, P51823, P61204, P61205, P61206, P61207, P61750, P61751, P84077, P84078, P84079, P84080, P84081, P84082, P84083, P84084, P84085, P91924, Q06396, Q10943, Q25761, Q3SZF2

Diamond homologs: A1CRG9, A1D4D1, A3LTA2, A5DR82, A5E5G3, A8ISN6, O04266, O04267, O04834, O45379, O48649, O48920, P0C583, P0C950, P0C951, P0CM16, P0CM17, P0CR30, P0CR31, P0CT16, P0CT17, P0DH91, P11076, P18085, P19146, P20606, P22274, P34727, P36397, P36536, P36579, P38116, P40940, P40945, P40994, P49702, P51643, P51821, P51823, P51824

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
ARFGEF1	“up-regulates activity”	ARF1	“guanine nucleotide exchange factor”
ARF1	“up-regulates quantity”	“AP-4 Adaptor complex”	binding
ARFGAP1	“up-regulates activity”	ARF1	“gtpase-activating protein”
ASAP2	“up-regulates activity”	ARF1	“gtpase-activating protein”
ARF1	up-regulates	Vesicle_transport
GBF1	“up-regulates activity”	ARF1	“guanine nucleotide exchange factor”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 125 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Regulation of RAS by GAPs	6	13.7×	3e-03
Mitochondrial protein import	6	11.8×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
intracellular protein transport	11	7.2×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

45 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	7
Likely pathogenic	5
Uncertain significance	18
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (12)

Variant ID	HGVS	Classification
1343798	NM_001658.4(ARF1):c.153C>A (p.Phe51Leu)	Pathogenic
1343799	NM_001658.4(ARF1):c.392C>G (p.Pro131Arg)	Pathogenic
1343803	NM_001658.4(ARF1):c.151T>C (p.Phe51Leu)	Pathogenic
3247647	NC_000001.10:g.(?228194830)(228566496_?)del	Pathogenic
3253556	NM_001658.4(ARF1):c.202G>A (p.Val68Met)	Pathogenic
590332	NM_001658.4(ARF1):c.103T>C (p.Tyr35His)	Pathogenic
590333	NM_001658.4(ARF1):c.379A>G (p.Lys127Glu)	Pathogenic
1343801	NM_001658.4(ARF1):c.55C>T (p.Arg19Cys)	Likely pathogenic
1343805	NM_001658.4(ARF1):c.295C>T (p.Arg99Cys)	Likely pathogenic
3420237	NM_001658.4(ARF1):c.208G>A (p.Gly70Ser)	Likely pathogenic
565231	GRCh37/hg19 1q42.13(chr1:227696109-229152386)x3	Likely pathogenic
690284	NM_001658.4(ARF1):c.143C>T (p.Thr48Ile)	Likely pathogenic

SpliceAI

652 predictions. Top by Δscore:

Variant	Effect	Δscore
1:228082762:TGAGG:T	donor_loss	1.0000
1:228082763:GAGGT:G	donor_loss	1.0000
1:228082764:AGG:A	donor_loss	1.0000
1:228082766:GTGA:G	donor_loss	1.0000
1:228082767:T:G	donor_loss	1.0000
1:228097074:CCAG:C	acceptor_loss	1.0000
1:228097075:CAG:C	acceptor_loss	1.0000
1:228097077:GGT:G	acceptor_gain	1.0000
1:228097201:G:T	donor_gain	1.0000
1:228097228:GCTGG:G	donor_gain	1.0000
1:228097229:C:G	donor_gain	1.0000
1:228097333:C:CA	acceptor_gain	1.0000
1:228097336:A:AG	acceptor_gain	1.0000
1:228097337:C:G	acceptor_gain	1.0000
1:228097338:CCAG:C	acceptor_loss	1.0000
1:228097339:CAGG:C	acceptor_loss	1.0000
1:228097340:A:AG	acceptor_gain	1.0000
1:228097340:AG:A	acceptor_gain	1.0000
1:228097341:G:GT	acceptor_gain	1.0000
1:228097341:GG:G	acceptor_gain	1.0000
1:228097341:GGC:G	acceptor_gain	1.0000
1:228097341:GGCT:G	acceptor_gain	1.0000
1:228097341:GGCTT:G	acceptor_gain	1.0000
1:228097448:ACAAG:A	donor_gain	1.0000
1:228097449:CAAG:C	donor_gain	1.0000
1:228097449:CAAGG:C	donor_loss	1.0000
1:228097450:AAG:A	donor_gain	1.0000
1:228097450:AAGGT:A	donor_loss	1.0000
1:228097451:AG:A	donor_gain	1.0000
1:228097451:AGGT:A	donor_loss	1.0000

AlphaMissense

1202 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:228097176:T:A	L21H	1.000
1:228097179:T:G	M22R	1.000
1:228097184:G:C	G24R	1.000
1:228097184:G:T	G24C	1.000
1:228097185:G:A	G24D	1.000
1:228097185:G:T	G24V	1.000
1:228097190:G:C	D26H	1.000
1:228097191:A:T	D26V	1.000
1:228097193:G:C	A27P	1.000
1:228097199:G:A	G29R	1.000
1:228097199:G:C	G29R	1.000
1:228097199:G:T	G29W	1.000
1:228097200:G:A	G29E	1.000
1:228097200:G:T	G29V	1.000
1:228097202:A:C	K30Q	1.000
1:228097203:A:T	K30M	1.000
1:228097204:G:C	K30N	1.000
1:228097204:G:T	K30N	1.000
1:228097206:C:T	T31I	1.000
1:228097215:T:A	L34H	1.000
1:228097215:T:C	L34P	1.000
1:228097224:T:C	L37P	1.000
1:228097251:T:A	I46N	1.000
1:228097254:C:A	P47H	1.000
1:228097257:C:T	T48I	1.000
1:228097260:T:A	I49K	1.000
1:228097262:G:C	G50R	1.000
1:228097262:G:T	G50C	1.000
1:228097342:G:A	G50D	1.000
1:228097342:G:T	G50V	1.000

dbSNP variants (sampled 300 via entrez): RS1000058274 (1:228095281 T>G), RS1000405693 (1:228087207 G>A), RS1000671194 (1:228097498 A>C,G), RS1000928049 (1:228083818 C>G,T), RS1001000239 (1:228084113 C>A), RS1001279337 (1:228089774 G>A,T), RS1001336255 (1:228095029 G>C), RS1001471519 (1:228095161 C>A), RS1001965314 (1:228080827 T>C), RS1002027266 (1:228085682 A>G), RS1002081202 (1:228085970 C>T), RS1002215324 (1:228089061 A>G), RS1002329854 (1:228089415 G>A,T), RS1002341935 (1:228096040 C>T), RS1002657090 (1:228083363 G>T)

Disease associations

OMIM: gene MIM:103180 | disease phenotypes: MIM:618185, MIM:615330, MIM:616451, MIM:118220

GenCC curated gene-disease

Disease	Classification	Inheritance
periventricular nodular heterotopia	Definitive	Autosomal dominant
periventricular nodular heterotopia 8	Strong	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
periventricular nodular heterotopia	Definitive	AD

Mondo (5): periventricular nodular heterotopia 8 (MONDO:0032588), multiple mitochondrial dysfunctions syndrome 3 (MONDO:0014132), hereditary spastic paraplegia 74 (MONDO:0014644), Charcot-Marie-Tooth disease (MONDO:0015626), periventricular nodular heterotopia (MONDO:0020341)

Orphanet (3): Multiple mitochondrial dysfunctions syndrome type 3 (Orphanet:363424), Autosomal recessive spastic paraplegia type 74 (Orphanet:468661), Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy (Orphanet:166)

HPO phenotypes

25 total (25 of 25 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000750	Delayed speech and language development
HP:0000963	Thin skin
HP:0001250	Seizure
HP:0001257	Spasticity
HP:0001263	Global developmental delay
HP:0001382	Joint hypermobility
HP:0001643	Patent ductus arteriosus
HP:0001654	Abnormal heart valve morphology
HP:0001659	Aortic regurgitation
HP:0001892	Abnormal bleeding
HP:0002020	Gastroesophageal reflux
HP:0002021	Pyloric stenosis
HP:0002188	Delayed CNS myelination
HP:0002650	Scoliosis
HP:0002999	Patellar dislocation
HP:0003834	Shoulder dislocation
HP:0004942	Aortic aneurysm
HP:0006855	Cerebellar vermis atrophy
HP:0007165	Periventricular heterotopia
HP:0007359	Focal-onset seizure
HP:0012639	Abnormal nervous system morphology
HP:0032388	Periventricular nodular heterotopia
HP:0034295	Reduced cerebral white matter volume
HP:0100790	Hernia

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST008788_4	Adolescent idiopathic scoliosis	7.000000e-11
GCST008789_3	Adolescent idiopathic scoliosis	2.000000e-10

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D002607	Charcot-Marie-Tooth Disease	C10.500.300.200; C10.574.500.495.200; C10.668.829.800.300.200; C16.131.666.300.200; C16.320.400.375.200
D054091	Periventricular Nodular Heterotopia	C10.500.507.450.750; C16.131.666.507.450.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5985 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs11541557	ARF1		0.00	0

ChEMBL bioactivities

1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.21	Kd	620	nM	CHEMBL259181

PubChem BioAssay actives

1 with measured affinity, of 4 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
(2S)-2-[[2-(2,3-dihydro-1H-inden-5-yloxy)-9-[(4-phenylphenyl)methyl]purin-6-yl]amino]-3-phenylpropan-1-ol	318398: Binding affinity to ADP-ribosylation factor 1 expressed HEK293 cells by surface plasmon resonance analysis	kd	0.6200	uM

CTD chemical–gene interactions

53 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	3
sodium arsenite	affects binding, increases reaction, increases expression	2
Arsenic	affects methylation, decreases expression, increases abundance	2
Copper	increases abundance, decreases abundance, decreases uptake, affects binding, increases expression (+2 more)	2
Cyclosporine	increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
Particulate Matter	affects cotreatment, increases abundance, increases expression, decreases expression	2
bisphenol F	affects cotreatment, decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects expression	1
sodium arsenate	decreases expression, increases abundance	1
trichostatin A	increases expression	1
ochratoxin A	affects binding	1
ochratoxin B	affects binding	1
CD 437	decreases expression	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
LM11 compound	decreases activity	1
NSC 689534	affects binding, increases expression	1
Erlotinib Hydrochloride	decreases response to substance	1
Irinotecan	affects cotreatment, affects response to substance, decreases expression	1
Temozolomide	affects response to substance	1
Arsenic Trioxide	increases expression	1
Gemcitabine	decreases expression	1
Ethanol	affects cotreatment, increases abundance, increases expression	1
Benzo(a)pyrene	decreases methylation	1
Cadmium	increases expression	1
Carmustine	affects response to substance	1

ChEMBL screening assays

4 unique, capped per target: 4 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5118449	Binding	Binding affinity to Arf1 in human HepG2 cell lysate assessed as change in denaturation temperature at 25 uM measured after 3 mins by CETSA	New brefeldin A-cinnamic acid ester derivatives as potential antitumor agents: Design, synthesis and biological evaluation. — Eur J Med Chem

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1JV	Abcam HeLa ARF1 KO	Cancer cell line	Female
CVCL_SD25	HAP1 ARF1 (-) 1	Cancer cell line	Male
CVCL_SD26	HAP1 ARF1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

60 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT04762758	PHASE3	UNKNOWN	Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients
NCT00271635	PHASE2	COMPLETED	Ascorbic Acid Treatment in CMT1A Trial (AATIC)
NCT01401257	PHASE2	COMPLETED	Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A
NCT02561702	PHASE2	COMPLETED	Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease
NCT02967679	PHASE2	COMPLETED	SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study
NCT03124459	PHASE2	TERMINATED	Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease
NCT03254199	PHASE2	TERMINATED	A Study to Assess the Safety and Effectiveness of FLX-787 in Subjects With Charcot-Marie-Tooth Disease Experiencing Muscle Cramps.
NCT03943290	PHASE2	TERMINATED	Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) and Charcot-Marie Tooth (CMT) Disease Types 1 and X (CMT1 and CMTX)
NCT05777226	PHASE2	UNKNOWN	Research of SORD-CMT Natural History and Epalrestat Treatment
NCT06482437	PHASE2	COMPLETED	Safety and Efficacy of NMD670 in Adult Patients With Type 1 and Type 2 Charcot-Marie-Tooth Disease
NCT05696912	Not specified	UNKNOWN	Functional Tests to Resolve Unsolved Rare Diseases. Rares.
NCT01289704	PHASE2/PHASE3	UNKNOWN	Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A)
NCT00541164	PHASE1/PHASE2	COMPLETED	Effects of Coenzyme Q10 on Charcot-Marie-Tooth Disease
NCT05361031	PHASE1/PHASE2	COMPLETED	The Safety and Tolerability of Engensis (VM202) in Patients With Charcot-Marie-Tooth Disease Subtype 1A (CMT1A)
NCT07223632	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Treatment of Charcot-Marie-Tooth Disease, Axonal, Type 2S (CMT2S) in an Individual Patient
NCT00149045	Not specified	COMPLETED	Follow up and Observation of Charcot Marie Tooth Disease in Families
NCT01193075	Not specified	RECRUITING	Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
NCT01203085	Not specified	COMPLETED	Development of Charcot Marie Tooth Disease (CMT) Pediatric Scale for Children With CMT
NCT01455623	Not specified	COMPLETED	Development and Validation of a Disability Severity Index for CMT
NCT01918826	Not specified	UNKNOWN	Evaluation of the Analgesic Efficiency of the Transcutaneous Neurostimulation in the Charcot Syndrome Marie Tooth on the Pains of Lower Limbs
NCT02001038	Not specified	COMPLETED	Survey of Current Management of Orthopaedic Complications in CMT Patients
NCT02011204	Not specified	COMPLETED	Study of Electrical Impedance Myography (EIM) in ALS
NCT02194010	Not specified	COMPLETED	Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)
NCT02429947	Not specified	COMPLETED	An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients
NCT02532244	Not specified	COMPLETED	Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases
NCT02699190	Not specified	COMPLETED	LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
NCT02788734	Not specified	COMPLETED	Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies
NCT02979145	Not specified	UNKNOWN	Charcot-Marie-Tooth Disease (CMT) Infant Scale (INC-6611)
NCT03047369	Not specified	RECRUITING	The Myelin Disorders Biorepository Project
NCT03460951	Not specified	COMPLETED	Diffusion Tensor Imaging in Chronic Inflammatory Demyelinating Polyneuropathy (PIDC)
NCT03715283	Not specified	COMPLETED	Change in MUNIX in Patients With CMT1A Undergoing a Home Ankle Strengthening Program Versus Standard of Care
NCT03782883	Not specified	COMPLETED	The Impact of Charcot-Marie-Tooth Disease in the Real World
NCT03810508	Not specified	TERMINATED	A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J)
NCT03966287	Not specified	COMPLETED	Analysis of Pain and Quality of Life in Patients With Charcot-Marie-Tooth Neuropathy (CMT)
NCT04010188	Not specified	RECRUITING	A Registered Cohort Study on Charcot-Marie-Tooth Disease
NCT04283175	Not specified	COMPLETED	Validation Study of Posturology Platforms for Evaluating Postural Control of Hemiparetic and Neuro-muscular Patients
NCT04461613	Not specified	UNKNOWN	Physical Activity in Persons With Charcot-Marie-Tooth: Developing a Measurement Instrument
NCT04786522	Not specified	COMPLETED	Irisin Levels in Patients With Charcot-Marie-Tooth (CMT) Disease
NCT04967716	Not specified	UNKNOWN	Genetics of Charcot-Marie-Tooth Dystrophy and Related Diseases
NCT04980807	Not specified	COMPLETED	Observational Study of Neuromuscular Function in CMT Type 1&2 and Healthy Controls