Recombinant Human ADP-ribosylation factor 1 (ARF1)

Function

(Microbial infection) Functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase

Subcellular Location

Golgi apparatus membrane (Lipid-anchor); Synapse, synaptosome; Postsynaptic density

Disease Association

Periventricular nodular heterotopia 8 (PVNH8) : 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]

Subunit

Interacts (when activated) with GGA1, GGA2 and GGA3; the interaction is required for proper subcellular location of GGA1, GGA2 and GGA3 (PubMed:11950392, PubMed:28868155). Interacts with ARHGAP21, ASAP2, HERC1, PRKCABP, PIP5K1B, TMED2, PSCD2, TMED10 and GRIA2 (PubMed:10022920, PubMed:17347647, PubMed:23889934, PubMed:8861955). Interacts with ARFGAP1, which hydrolyzes GTP and thus, regulates its function (PubMed:10102276). Interacts with PI4KB in the Golgi complex (PubMed:17555535). Interacts with NCS1/FREQ in the Golgi and at the plasma membrane (PubMed:17555535). Interacts with PLEKHA3 (PubMed:21454700). Interacts with PLEKHA8; the interaction, together with phosphatidylinositol 4-phosphate binding, is required for FAPP2-mediated glucosylceramide transfer activity (PubMed:15107860). Interacts (activated) with PICK1 (via PDZ domain); the interaction blocks Arp2/3 complex inhibition (PubMed:23889934). Interacts with IQSEC1 (PubMed:24058294). Interacts with C9orf72 (By similarity) (PubMed:24058294)

• Bobak D.A. et al. Molecular cloning, characterization, and expression of human ADP-ribosylation factors: two guanine nucleotide-dependent activators of cholera toxin. — Proc. Natl. Acad. Sci. U.S.A. (1989)
• Kahn R.A. et al. Human ADP-ribosylation factors. A functionally conserved family of GTP-binding proteins. — J. Biol. Chem. (1991)
• Lee C.M. et al. Characterization of the human gene encoding ADP-ribosylation factor 1, a guanine nucleotide-binding activator of cholera toxin. — J. Biol. Chem. (1992)
• Yu W. et al. Large-scale concatenation cDNA sequencing. — Genome Res. (1997)
• Puhl H.L. III et al. cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org). (MAR-)
• Kalnine N. et al. Cloning of human full-length CDSs in BD Creator(TM) system donor vector. (MAY-)
• Gregory S.G. et al. The DNA sequence and biological annotation of human chromosome 1. — Nature (2006)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)