IQSEC1

Chr 3p25.2

IQ motif and Sec7 domain ArfGEF 1

Aliases:: KIAA0763, GEP100, BRAG2, ARF-GEP100
MANE:: ENST00000613206.2

OMIM: 610166 ↗NCBI: 9922 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

IQSEC1 · Q6DN90

v62025-08-01

Predicted Aligned Error matrix for IQSEC1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

62.5/ 100

Low

963 residues

Confidence breakdown

Very high(≥ 90)33%
Confident(70–90)10%
Low(50–70)6%
Very low(< 50)51%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

intellectual developmental disorder with short stature and behavioral abnormalities
0.62
Abnormality of the skeletal system
0.40
smoking initiation
0.39
hypothyroidism
0.37
autosomal recessive non-syndromic intellectual disability
0.37
Abnormality of limbs
0.31
musculoskeletal system disorder
0.30
spinal cord injury
0.29
osteoarthritis
0.28
nephrotic syndrome
0.26

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

IQ motif and SEC7 domain-containing protein 1

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)