ARFGEF1 (ADP ribosylation factor guanine nucleotide exchange factor 1)

2006-10-01  

Identity

HGNC
ARFGEF1
LOCATION
8q13.2
LOCUSID
10565
ALIAS
ARFGEP1,BIG1,P200
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10565
MIM: 604141
HGNC: 15772
Ensembl: ENSG00000066777

Variants:

dbSNP: 10565
ClinVar: 10565
TCGA: ENSG00000066777
COSMIC: ARFGEF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000066777ENST00000262215Q9Y6D6
ENSG00000066777ENST00000262215A0A024R7X0
ENSG00000066777ENST00000518230E5RHL7
ENSG00000066777ENST00000518789E5RHZ1
ENSG00000066777ENST00000519436E5RJN9
ENSG00000066777ENST00000520381E5RIF2

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
350487952022The miR-133b/brefeldin A-inhibited guanine nucleotide-exchange protein 1 (ARFGEF1) axis represses proliferation, invasion, and migration in cervical cancer cells.4
350487952022The miR-133b/brefeldin A-inhibited guanine nucleotide-exchange protein 1 (ARFGEF1) axis represses proliferation, invasion, and migration in cervical cancer cells.4
341130082021Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.7
341130082021Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.7
324150872020BIG1 controls macrophage pro-inflammatory responses through ARF3-mediated PI(4,5)P2 synthesis.6
324150872020BIG1 controls macrophage pro-inflammatory responses through ARF3-mediated PI(4,5)P2 synthesis.6
311996732019Involvement of BIG1 and BIG2 in regulating VEGF expression and angiogenesis.8
311996732019Involvement of BIG1 and BIG2 in regulating VEGF expression and angiogenesis.8
271623412016Enhancement of β-catenin activity by BIG1 plus BIG2 via Arf activation and cAMP signals.12
273731592016Structural Insights into Arl1-Mediated Targeting of the Arf-GEF BIG1 to the trans-Golgi.17
278348532016Brefeldin A-Inhibited Guanine Nucleotide-Exchange Factor 1 (BIG1) Governs the Recruitment of Tumor Necrosis Factor Receptor-Associated Factor 2 (TRAF2) to Tumor Necrosis Factor Receptor 1 (TNFR1) Signaling Complexes.7
271623412016Enhancement of β-catenin activity by BIG1 plus BIG2 via Arf activation and cAMP signals.12
273731592016Structural Insights into Arl1-Mediated Targeting of the Arf-GEF BIG1 to the trans-Golgi.17
278348532016Brefeldin A-Inhibited Guanine Nucleotide-Exchange Factor 1 (BIG1) Governs the Recruitment of Tumor Necrosis Factor Receptor-Associated Factor 2 (TRAF2) to Tumor Necrosis Factor Receptor 1 (TNFR1) Signaling Complexes.7
232202742013BIG1, a brefeldin A-inhibited guanine nucleotide-exchange protein modulates ATP-binding cassette transporter A-1 trafficking and function.11

Citation

Dessen P

ARFGEF1 (ADP ribosylation factor guanine nucleotide exchange factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43128/arfgef1-(adp-ribosylation-factor-guanine-nucleotide-exchange-factor-1)