ARFGEF1
Function
Promotes guanine-nucleotide exchange on ARF1 and ARF3. Promotes the activation of ARF1/ARF3 through replacement of GDP with GTP. Involved in vesicular trafficking. Required for the maintenance of Golgi structure; the function may be independent of its GEF activity. Required for the maturation of integrin beta-1 in the Golgi. Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing. Proposed to act as A kinase-anchoring protein (AKAP) and may mediate crosstalk between Arf and PKA pathways. Inhibits GAP activity of MYO9B probably through competitive RhoA binding. The function in the nucleus remains to be determined.
Involvement in disease
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures
DEDISB
An autosomal dominant disorder characterized by mild to moderately impaired intellectual development, language delay, motor deficits, and behavioral abnormalities including aggression, hyperactivity, and autism spectrum disorder. About half of individuals develop various types of seizures. More variable features include dysmorphic facial features, mild ocular anomalies, and non-specific findings on brain imaging.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated. In vitro phosphorylated by PKA reducing its GEF activity and dephosphorylated by phosphatase PP1.
Tissue Specificity
Expressed in placenta, lung, heart, brain, kidney and pancreas.
Cellular localization
- Cytoplasm
- Cytoplasm
- Perinuclear region
- Golgi apparatus
- Golgi apparatus
- trans-Golgi network membrane
- Nucleus
- Nucleus
- Nucleolus
- Nucleus matrix
- Translocates from cytoplasm to membranes and nucleus upon cAMP treatment.
Alternative names
ARFGEP1, BIG1, ARFGEF1, Brefeldin A-inhibited guanine nucleotide-exchange protein 1, Brefeldin A-inhibited GEP 1, ADP-ribosylation factor guanine nucleotide-exchange factor 1, p200 ARF guanine nucleotide exchange factor, p200 ARF-GEP1