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Details of STXBP1 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| STXBP1 | UNC18A | P61764 | STXB1_HUMAN | 6812 | ENSG00000136854 | Syntaxin-binding protein 1 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Epileptic encephalopathy, early infantile, 4 (EIEE4) [MIM:612164]: A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high- voltage bursts alternating with almost flat suppression phases. Affected individuals have neonatal or infantile onset of seizures, profound mental retardation, and MRI evidence of brain hypomyelination. Note=The disease is caused by mutations affecting the gene represented in this entry. | 612164 | ||||||||
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Stxbp1 | Rop | unc-18 | Sp-Stxbp1 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| ARPC3 | STXBP1 | 0.160804721 | ARPC3 | STXBP1 |
| ALDOC | STXBP1 | 0.205725605 | ALDOC | STXBP1 |
| NDUFV1 | STXBP1 | 0.075009916 | NDUFV1 | STXBP1 |
| STXBP1 | SHMT1 | 0.092930147 | STXBP1 | SHMT1 |
| EHD1 | STXBP1 | 0.101591532 | EHD1 | STXBP1 |
| STXBP1 | ARHGAP17 | 0.096395518 | STXBP1 | ARHGAP17 |
| NUP50 | STXBP1 | 0.097963931 | NUP50 | STXBP1 |
| STXBP1 | NPEPPS | 0.137421303 | STXBP1 | NPEPPS |
| SNAP25 | STXBP1 | 0.194842788 | SNAP25 | STXBP1 |
| STXBP1 | ACTR2 | 0.129442012 | STXBP1 | ACTR2 |
| ACTR3 | STXBP1 | 0.12022176 | ACTR3 | STXBP1 |
| STXBP1 | SHC1 | 0.095788418 | STXBP1 | SHC1 |
| PICALM | STXBP1 | 0.070451027 | PICALM | STXBP1 |
| STXBP1 | PPP1R8 | 0.084254879 | STXBP1 | PPP1R8 |