IQSEC1

Last update 08 May 2025

Basic Info

Synonyms

ADP-ribosylation factors guanine nucleotide-exchange protein 100, ADP-ribosylation factors guanine nucleotide-exchange protein 2, ARF-GEP100

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Introduction

Guanine nucleotide exchange factor for ARF1 and ARF6 (PubMed:11226253, PubMed:24058294). 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 internalization 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).

100 Clinical Results associated with IQSEC1

100 Translational Medicine associated with IQSEC1

0 Patents (Medical) associated with IQSEC1

Literatures (Medical) associated with IQSEC1

01 Feb 2025·FEBS Letters

Disruption of Iqsec1 in mice leads to embryonic lethality with reduced large apical vacuoles in the visceral endoderm

Article

Author: Shiroshima, Tomoko ; Saito, Koji ; Fukaya, Masahiro ; Nemoto, Noriko ; Sakagami, Hiroyuki ; Okubo, Tadashi ; Hara, Yoshinobu ; Sugawara, Takeyuki ; Niimura, Tomoko

Iqsec1 (IQ motif and Sec7 domain‐containing protein 1), also known as BRAG2 (Brefeldin A‐resistant Arf‐GEF 2), is a guanine nucleotide exchange factor that regulates membrane trafficking, cytoskeletal organization, and signal transduction by activating class II and III ADP‐ribosylation factors. To investigate the physiological role of Iqsec1 at the whole animal level, we generated Iqsec1‐deficient mice using CRISPR/Cas9‐mediated gene editing. Nearly all Iqsec1−/− mice (99%) exhibited embryonic lethality with severe growth retardation. Electron microscopy revealed that Iqsec1−/− embryos at embryonic day 8.5 lacked large apical vacuoles in visceral endoderm cells of the yolk sac, compared with controls. These findings suggest that Iqsec1 plays a critical role in embryogenesis, likely through regulation of membrane trafficking in visceral endoderm cells.

01 Dec 2024·Diabetologia

Genetics of glucose homeostasis in pregnancy and postpartum

Article

Author: Hayes, M Geoffrey ; Lowe, William L ; Hivert, Marie-France ; Hayes, M. Geoffrey ; Kuang, Alan ; Scholtens, Denise M ; Scholtens, Denise M. ; Lowe, William L.

AIMS/HYPOTHESISPregnancy is accompanied by maternal metabolic adaptations to ensure fetal growth and development, including insulin resistance, which occurs primarily during the second and third trimesters of pregnancy, and a decrease in fasting blood sugar levels over the course of pregnancy. Glucose-related traits are regulated by genetic and environmental factors and modulated by physiological variations throughout the life course. We addressed the hypothesis that there are both overlaps and differences between genetic variants associated with glycaemia-related traits during and outside of pregnancy.METHODSGenome-wide SNP data were used to identify genetic variations associated with glycaemia-related traits measured during an OGTT performed at ~28 weeks' gestation in 8067 participants in the Hyperglycaemia and Adverse Pregnancy Outcome (HAPO) Study. Associations outside of pregnancy were determined in 3977 individuals who also participated in the HAPO Follow-Up Study at 11-14 years postpartum. A Bayesian classification algorithm was used to determine whether SNPs associated with fasting and 2 h glucose and fasting C-peptide during pregnancy had a pregnancy-predominant effect vs a similar effect during pregnancy and postpartum.RESULTSSNPs in six loci (GCKR, G6PC2, GCK, PPP1R3B, PCSK1 and MTNR1B) were significantly associated with fasting glucose during pregnancy, while SNPs in CDKAL1 and MTNR1B were associated with 1 h glucose and SNPs in MTNR1B and HKDC1 were associated with 2 h glucose. Variants in CDKAL1 and MTNR1B were associated with insulin secretion during pregnancy. Variants in multiple loci were associated with fasting C-peptide during pregnancy, including GCKR, IQSEC1, PPP1R3B, IGF1 and BACE2. GCKR and BACE2 were associated with 1 h C-peptide and GCKR, IQSEC1 and BACE2 with insulin sensitivity during pregnancy. The associations of MTNR1B with 2 h glucose, BACE2 with fasting and 1 h C-peptide and insulin sensitivity, and IQSEC1 with fasting C-peptide and insulin sensitivity that we identified during pregnancy have not been previously reported in non-pregnancy cohorts. The Bayesian classification algorithm demonstrated that the magnitude of effect of the lead SNP was greater during pregnancy compared with 11-14 years postpartum in PCSK1 and PPP1R3B with fasting glucose, in three loci, including MTNR1B, with 2 h glucose, and in six loci, including IGF1, with fasting C-peptide.CONCLUSIONS/INTERPRETATIONOur findings support the hypothesis that there are both overlaps and differences between the genetic architecture of glycaemia-related traits during and outside of pregnancy. Genetic variants at several loci, including PCSK1, PPP1R3B, MTNR1B and IGF1, appear to influence glycaemic regulation in a unique fashion during pregnancy. Future studies in larger cohorts will be needed to replicate the present findings, fully characterise the genetics of maternal glycaemia during pregnancy and determine similarities to and differences from the non-gravid state.

01 Apr 2024·Oral Diseases

Genetic associations between gene polymorphisms on 3p25 and oral squamous cell carcinoma

Article

Author: Yuan, Minyan ; Song, Yaling ; Zheng, Xueqing ; Li, Yang ; Jing, Jiaojiao ; Liu, Nianke

AbstractObjectivesTo evaluate the association of SYN2, PPARG, RAF1, TIMP4, and IQSEC1 polymorphisms in 3p25 with oral squamous cell carcinoma (OSCC) in the Chinese Han population.Subjects and MethodsGenomic DNA was extracted from 494 subjects with or without OSCC. Basic information on the subjects, clinical data, and prognoses were collected. Fifteen candidate single nucleotide polymorphisms (SNPs) were selected and genotyped. The statistical analyses included descriptive statistics, logistic regression, survival, and functional annotation was performed.ResultsIQSEC1‐rs2686742 correlated with OSCC occurrence. In addition, RAF1‐rs1051208, PPARG‐rs10865710, PPARG‐rs3856806, IQSEC1‐rs2686742, PPARG‐rs1175544, IQSEC1‐rs9211, and IQSEC1‐rs2600322 were significantly associated with the clinical characteristics of patients with OSCC. The log‐rank test showed that IQSEC1‐rs2600322 may play an important role in the survival of patients with OSCC. The Cox regression analysis suggested that PPARG‐rs10865710, PPARG‐rs7649970, IQSEC1‐rs9211, IQSEC1‐rs2600322, and IQSEC1‐rs12487715 influenced survival outcomes. The functional annotation indicated that the transcript levels of IQSEC1 were upregulated in head and neck squamous cell carcinoma tissues, whereas PPARG gene transcription was downregulated.ConclusionsIQSEC1‐rs2686742 may be closely associated with OSCC onset. Multiple SNPs in IQSEC1 and PPARG genes correlated with the clinical characteristics of OSCC, among which PPARG‐rs10865710, IQSEC1‐rs9211, and IQSEC1‐rs2600322 were associated with cancer prognosis.

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IQSEC1

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