GIT1 Gene Summary [Human]
Enables gamma-tubulin binding activity. Involved in positive regulation of microtubule nucleation and regulation of cytokinesis. Located in several cellular components, including focal adhesion; microtubule cytoskeleton; and mitochondrion. Implicated in attention deficit hyperactivity disorder. Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Retained Intron |
| Official Symbol | GIT1 |
| Official Name | GIT ArfGAP 1 [Source:HGNC Symbol;Acc:HGNC:4272] |
| Ensembl ID | ENSG00000108262 |
| Bio databases IDs | |
| Aliases | GIT ArfGAP 1 |
| Synonyms | Cat-1, GIT ArfGAP 1, p95-APP1, p95Cat |
| 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 GIT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ankyrin repeats (many copies)
- GIT coiled-coil Rho guanine nucleotide exchange factor
- coiled-coil domain
- GTPase activator
- GTPase-activating protein (GAP) for the ADP ribosylation factors (ARFs)
- identical protein binding
- Ankyrin repeat
- G protein-coupled receptor kinase-interacting protein 1 C term
- Putative GTPase activating protein for Arf
- protein kinase binding
- Spa homology domain
- protein phosphatase binding
- enzyme binding
- paxillin-binding domain
- Ankyrin repeats (3 copies)
- Spa2 homology domain (SHD) of GIT
- protein binding
- GRK binding domain
- gamma-tubulin binding
- kinase
- SHD1 domain
- binding protein
- Putative GTP-ase activating proteins for the small GTPase, ARF
- zinc finger domain
- structural molecule
Pathways
Biological processes and signaling networks where the GIT1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- bleeding
- metastasis
- Huntington disease
- Waldenström macroglobulinemia
- cervical cancer
- dyspnea
- cyanosis
- neoplastic cell transformation
- oral squamous cell carcinoma
- squamous cell cancer of the oral cavity
role in cell
- survival
- proliferation
- degradation in
- phosphorylation in
- migration
- formation
- activation in
- expression in
- formation in
- quantity
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
- postsynaptic density (PSD) fractions
- membrane fraction
- synaptosomal membrane fractions
- glutaminergic synapse
- intracellular structures
- presynaptic regions
- cell periphery
- perinuclear region
- postsynaptic region
- membrane surface
- cellular membrane
- focal adhesions
- filamentous network
- cell cortex
- Nucleus
- endosomes
- centrosome
- Mitochondria
- cytosol
- spindle pole
- spine apparatus
- growth cone
- neurites
- synaptosomes
- synapse
- filopodia
- cell membrane leading edge
- axons
- dendrites
- axon terminals
- presynaptic terminals
- inhibitory synapse
- excitatory synapses
- plasma
- presynaptic dense projection
- synaptosomal fractions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GIT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of interleukin-1 beta production
- negative regulation of glycolysis
- positive regulation of microtubule nucleation
- cell redox homeostasis
- neuron development
- regulation of G-protein coupled receptor protein signaling pathway
- brain development
- locomotory behavior
- cellular response to lipopolysaccharide
- ephrin receptor signaling pathway
- regulation of cytokinesis
- intramembranous ossification
- regulation of synaptic vesicle exocytosis
- regulation of ARF protein signal transduction
Cellular Component
Where in the cell the gene product is active
- postsynaptic density
- centrosome
- focal adhesion
- membrane
- mitochondrion
- cytosol
- synapse
- neuron projection
- lamellipodium
- calyx of Held
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- GTPase activator activity
- small GTPase binding
- gamma-tubulin binding