| Gene Symbol | SEPTIN5 |
| Full Name | Septin 5 |
| Aliases | SEPTIN5PROTEIN |
| Chromosome | 22q11.21 |
| Function | encodes a member of the septin family of GTP-binding proteins essential for cytoskeleton organization, cell division, and membrane dynamics. |
| Primary Expression | the nervous system and is particularly important for synaptic vesicle organization, neurotransmitter release, and neuronal survival |
| Amino Acids | 367 aa |
| UniProt ID | Q9NSC5 |
| NCBI Gene ID | 54148 |
| Ensembl ID | ENSG00000100338 |
| GeneCards | SEPTIN5 |
| Human Protein Atlas | SEPTIN5 |
| Nucleotide-binding domain | Core P-loop NTP hydrolase domain (~200 amino acids) that binds and hydrolyzes GTP |
| Switch I and II regions | Conformational changes upon GTP/GDP binding that mediate protein-protein interactions |
| Polybasic region | C-terminal membrane interaction domain that facilitates association with phospholipid membranes |
| Associated Diseases | Parkinson's Disease, Alzheimer's Disease, Lewy Body Dementia |
| Databases | GeneCardsHPASTRING |
No AI portrait yet
No comments yet. Be the first to comment!