IQSEC1 Gene Summary [Human]
Predicted to enable protein kinase binding activity. Predicted to be involved in several processes, including positive regulation of focal adhesion disassembly; positive regulation of keratinocyte migration; and regulation of postsynaptic neurotransmitter receptor internalization. Located in nucleolus. Implicated in intellectual developmental disorder with short stature and behavioral abnormalities. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | IQSEC1 |
| Official Name | IQ motif and Sec7 domain ArfGEF 1 [Source:HGNC Symbol;Acc:HGNC:29112] |
| Ensembl ID | ENSG00000144711 |
| Bio databases IDs | |
| Aliases | IQ motif and Sec7 domain ArfGEF 1, brefeldin A-resistant ARF-GEF2 |
| Synonyms | ARF-GEP100, BRAG2, cI-43, D6Ertd349e, GEP100, IDDSSBA, IQ motif and Sec7 domain 1, IQ motif and Sec7 domain ArfGEF 1, KIAA0763, LOC108350819, LOC112267878 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human IQSEC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- serine-rich region
- protein kinase binding
- Sec7
- Sec7 domain
- IQ-like motif
- nuclear localization sequence
- PH domain
- protein binding
- Pleckstrin homology-like domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metastasis
- overall survival
- covid-19 death
- non-insulin-dependent diabetes mellitus
- peripheral arterial disease
- ductal breast carcinoma
- ductal breast cancer
- intellectual developmental disorder with short stature and behavioral abnormalities
- postmenopausal osteoporosis
- infiltrating ductal breast carcinoma
role in cell
- migration
- invasiveness
- phagocytosis by
- development
- invasion
- disassembly
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- glutaminergic synapse
- intracellular membrane-bounded organelle
- organelle
- cell periphery
- perinuclear region
- centrosome
- cytosol
- nucleoplasm
- nucleoli
- synapse
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human IQSEC1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of ARF protein signal transduction
- positive regulation of keratinocyte migration
- actin cytoskeleton organization
- dendritic spine development
Cellular Component
Where in the cell the gene product is active
- postsynaptic density
- synaptic vesicle
- intracellular membrane-bounded organelle
- membrane
- nucleolus
Molecular Function
What the gene product does at the molecular level
- protein binding
- guanyl-nucleotide exchange factor activity
- lipid binding