GDI1 Gene Summary [Human]
GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI1 is expressed primarily in neural and sensory tissues. Mutations in GDI1 have been linked to X-linked nonspecific cognitive disability. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | GDI1 |
| Official Name | GDP dissociation inhibitor 1 [Source:HGNC Symbol;Acc:HGNC:4226] |
| Ensembl ID | ENSG00000203879 |
| Bio databases IDs | |
| Aliases | GDP dissociation inhibitor 1, mental retardation, X-linked 41, mental retardation, X-linked 48, rab GDP-dissociation inhibitor, alpha |
| Synonyms | 1A, GDIA, GDI alpha, GDIL, GDI α, GDP dissociation inhibitor 1, MRX41, MRX48, OPHN2, RABGD1A, RAB-GDI1, RABGDIA, Rab Gdi alpha, Rab-gdi-α, RHOGDI, XAP-4, XLID41 |
| 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 GDI1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rossmann-fold NAD(P)(+)-binding proteins
- GDP-dissociation inhibitor
- RAB GDP-dissociation inhibitor
- enzyme binding
- protein binding
- GDP dissociation inhibitor
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- seizures
- x-linked mental retardation type 41
- mental retardation
- nonsyndromic X-linked mental retardation
- Turner syndrome
- hereditary disorder
role in cell
- motility
- autophagy
- dissociation
- formation
- autophagy in
- formation in
- polymerization in
- axonogenesis
- paired-pulse facilitation
- length
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
- myelin enriched fraction
- Plasma Membrane
- Endoplasmic Reticulum
- midbody
- cytosol
- growth cone
- myelin sheath
- synaptosomes
- perikaryon
- axons
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GDI1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of protein targeting to membrane
- negative regulation of axonogenesis
- vesicle-mediated transport
- positive regulation of toll-like receptor signaling pathway
- signal transduction
- response to calcium ion
- protein transport
- Rab protein signal transduction
- positive regulation of axon extension
Cellular Component
Where in the cell the gene product is active
- myelin sheath
- cytoplasm
- cytosol
- Golgi apparatus
- endoplasmic reticulum
- macromolecular complex
- neuronal cell body
- midbody
- axon
Molecular Function
What the gene product does at the molecular level
- Rab GDP-dissociation inhibitor activity
- GDP-dissociation inhibitor activity
- protein binding
- GTPase activator activity
- small GTPase binding