| Gene Information | |
|---|---|
| Gene Name | SEP4 |
| Organism | Homo sapiens (Human) |
| Gene Length | 478 |
| Protein Names | Septin-4 (Bradeion beta) (Brain protein H5) (CE5B3 beta) (Cell division control-related protein 2) (hCDCREL-2) (Peanut-like protein 2) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | O43236 |
| Gene Card | SEPTIN4 |
| Uniprot ID | O43236 |
| Pfam | PF00735 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Widely expressed in adult and fetal tissues with highest expression in adult brain (at protein level), heart, liver and adrenal gland and fetal heart, kidney, liver and lung. Expressed in presynaptic terminals of dopaminergic neurons projecting from the substantia nigra pars compacta to the striatum (at protein level) (PubMed:17296554). Expressed in axonal varicosities in dopaminergic nerve terminals (at protein level) (PubMed:17296554). Expressed in the putamen and in the adjacent cerebral cortex (at protein level) (PubMed:17296554). Expressed in colonic crypts (at protein level) (PubMed:30389919). Also expressed in colorectal cancers and malignant melanomas. Expressed in platelets. {ECO:0000269|PubMed:11146656, ECO:0000269|PubMed:11167005, ECO:0000269|PubMed:11511094, ECO:0000269|PubMed:15116257, ECO:0000269|PubMed:15915442, ECO:0000269|PubMed:17296554, ECO:0000269|PubMed:30389919, ECO:0000269|PubMed:9889007}.; [Isoform ARTS]: Highly expressed in the brain and heart. {ECO:0000269|PubMed:11146656}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 6WB3 (X-ray 1.35A ) |
| DBSNP | rs17741424 rs8071623 |
| Subcellular location [CC] | Cytoplasm {ECO:0000250|UniProtKB:P28661}. Cell projection, cilium, flagellum {ECO:0000269|PubMed:25588830}. Cytoplasmic vesicle, secretory vesicle {ECO:0000269|PubMed:15116257}. Cell projection, axon {ECO:0000250|UniProtKB:P28661}. Cell projection, dendrite {ECO:0000250|UniProtKB:P28661}. Perikaryon {ECO:0000250|UniProtKB:P28661}. Synapse {ECO:0000269|PubMed:17296554}. Note=In platelets, found in areas surrounding alpha-granules (PubMed:15116257). Found in the sperm annulus, a fibrous ring structure connecting the midpiece and the principal piece of the sperm flagellum (PubMed:25588830). Expressed and colocalized with SLC6A3 and SNCA in axon terminals, especially at the varicosities (By similarity). {ECO:0000250|UniProtKB:P28661, ECO:0000269|PubMed:15116257, ECO:0000269|PubMed:25588830}.; [Isoform ARTS]: Mitochondrion {ECO:0000269|PubMed:11146656, ECO:0000269|PubMed:15029247, ECO:0000269|PubMed:21695558}. Nucleus {ECO:0000269|PubMed:11146656, ECO:0000269|PubMed:15029247}. Note=While predominantly localized in the mitochondria under resting conditions, translocates into the nucleus after TGF-beta treatment and apoptosis induction. {ECO:0000269|PubMed:11146656}. |
| Mouse PG classification | NA |
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