IQ motif and SEC7 domain-containing protein 1

Definition:

Guanine nucleotide exchange factor for ARF1 and ARF6. Guanine nucleotide exchange factor activity is enhanced by lipid binding. Accelerates GTP binding by ARFs of all three classes. Guanine nucleotide exchange protein for ARF6, mediating internalization of beta-1 integrin. Involved in neuronal development (Probable). In neurons, plays a role in the control of vesicle formation by endocytoc cargo. Upon long term depression, interacts with GRIA2 and mediates the activation of ARF6 to internalize synaptic AMPAR receptors (By similarity).

References:

[1]. Kaheina Aizel, et al. Integrated conformational and lipid-sensing regulation of endosomal ArfGEF BRAG2. PLoS Biol. 2013 Sep;11(9):e1001652. [Content Brief]

[2]. A Someya, et al. ARF-GEP(100), a guanine nucleotide-exchange protein for ADP-ribosylation factor 6. Proc Natl Acad Sci U S A. 2001 Feb 27;98(5):2413-8. [Content Brief]

[3]. Jillian L Dunphy, et al. The Arf6 GEF GEP100/BRAG2 regulates cell adhesion by controlling endocytosis of beta1 integrins. Curr Biol. 2006 Feb 7;16(3):315-20. [Content Brief]

[4]. Muhammad Ansar, et al. Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature. Am J Hum Genet. 2019 Nov 7;105(5):907-920. [Content Brief]

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