GDAP1 Gene Summary [Human]
This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012]
Details
| Type | Protein Coding |
| Official Symbol | GDAP1 |
| Official Name | ganglioside induced differentiation associated protein 1 [Source:HGNC Symbol;Acc:HGNC:15968] |
| Ensembl ID | ENSG00000104381 |
| Bio databases IDs | |
| Aliases | ganglioside induced differentiation associated protein 1 |
| Synonyms | CMT4, CMT4A, CMTRIA, ganglioside-induced differentiation-associated-protein 1 |
| 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 GDAP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Glutathione S-transferase, C-terminal domain
- Glutathione S-transferase, N-terminal domain
- C-terminal, alpha helical domain of the Glutathione S-transferase family
- Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- small cell lung cancer
- peripheral neuropathy
- Charcot-Marie-Tooth disease type 4A
- Charcot-Marie-Tooth disease
- endometriosis
- hereditary disorder
- COVID-19
- Charcot-Marie-Tooth disease recessive intermediate type A
- axonal form Charcot-Marie-Tooth disease type 4A
- autosomal recessive Charcot-Marie-Tooth disease axonal type 2K
role in cell
- abnormal morphology
- morphology
- action potential
- outgrowth
- fusion
- fragmentation
- degeneration
- mobilization
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
- mitochondrial fraction
- Mitochondria
- cytosol
- mitochondrial outer membrane
- peroxisome membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GDAP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein targeting to mitochondrion
- response to retinoic acid
- mitochondrial fusion
- cellular response to vitamin D
- mitochondrial fission
Cellular Component
Where in the cell the gene product is active
- peroxisomal membrane
- nucleus
- membrane
- mitochondrion
- cytosol
- mitochondrial outer membrane
Molecular Function
What the gene product does at the molecular level
- protein binding