Aliases for IQSEC1 Gene
- IQ Motif And Sec7 Domain ArfGEF 1 2 3 5
- BRAG2 2 3 4
- ADP-Ribosylation Factors Guanine Nucleotide-Exchange Protein 100 3 4
- ADP-Ribosylation Factors Guanine Nucleotide-Exchange Protein 2 3 4
- IQ Motif And SEC7 Domain-Containing Protein 1 3 4
- Brefeldin-Resistant Arf-GEF 2 Protein 3 4
- Brefeldin A-Resistant ARF-GEF2 2 3
External Ids for IQSEC1 Gene
Previous GeneCards Identifiers for IQSEC1 Gene
GeneCards Summary for IQSEC1 Gene
IQSEC1 (IQ Motif And Sec7 Domain ArfGEF 1) is a Protein Coding gene. Diseases associated with IQSEC1 include Intellectual Developmental Disorder With Short Stature And Behavioral Abnormalities and Autosomal Recessive Non-Syndromic Intellectual Disability. Among its related pathways are Arf6 signaling events and Endocytosis. Gene Ontology (GO) annotations related to this gene include lipid binding and ARF guanyl-nucleotide exchange factor activity. An important paralog of this gene is IQSEC2.
UniProtKB/Swiss-Prot Summary for IQSEC1 Gene
Guanine nucleotide exchange factor for ARF1 and ARF6 (PubMed:24058294, PubMed:11226253). Guanine nucleotide exchange factor activity is enhanced by lipid binding (PubMed:24058294). Accelerates GTP binding by ARFs of all three classes. Guanine nucleotide exchange protein for ARF6, mediating internalisation of beta-1 integrin (PubMed:16461286). 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).