AGAP1 Gene Summary [Human]

This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

Details

Type
Protein Coding
Official Symbol
AGAP1
Official Name
ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 [Source:HGNC Symbol;Acc:HGNC:16922]
Ensembl ID
ENSG00000157985
Bio databases IDs NCBI: 116987 Ensembl: ENSG00000157985
Aliases ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
Synonyms ArfGAP with GTPase domain, ankyrin repeat and PH domain 1, CENTG2, cnt-g2, GGAP1, mKIAA1099
Species
Human, Homo sapiens
OrthologiesMouseRat

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 AGAP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • phospholipid binding
  • Ankyrin repeats (many copies)
  • Small GTPase of the Ras superfamily (ill-defined subfamily)
  • Ras family
  • Ankyrin repeats (3 copies)
  • GTPase
  • enzyme
  • protein binding
  • Pleckstrin homology-like domain
  • GTPase-activating protein (GAP) for the ADP ribosylation factors (ARFs)
  • Ankyrin repeat
  • Ras subfamily of RAS small GTPases
  • small GTP-binding protein domain
  • Putative GTP-ase activating proteins for the small GTPase, ARF
  • Rab subfamily of small GTPases
  • PH domain
  • Ras of Complex, Roc, domain of DAPkinase
  • Putative GTPase activating protein for Arf
  • P-loop containing Nucleoside Triphosphate Hydrolases
  • ankyrin repeats

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • schizophrenia
  • Goldenhar syndrome
  • Parkinson disease
  • insomnia
  • coronary artery disease
  • cardiovascular disorder
  • osteoarthritis
  • metabolic syndrome X
  • COVID-19
  • Alzheimer disease
regulated by
regulates
role in cell
  • formation
  • quantity
  • distribution in
  • recycling in

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
  • cell periphery
  • endosomes
  • cytosol

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human AGAP1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • protein transport

Cellular Component

Where in the cell the gene product is active
  • cytoplasm

Molecular Function

What the gene product does at the molecular level
  • GTP binding
  • protein binding
  • metal ion binding
  • GTPase activity
  • GTPase activator activity
  • phospholipid binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.