|
Gene id |
6812 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
STXBP1 Gene UCSC Ensembl |
|
Aliases |
MUNC18-1, NSEC1, P67, RBSEC1, UNC18 |
|
Gene name |
syntaxin binding protein 1 |
|
Alternate names |
syntaxin-binding protein 1, N-Sec1, neuronal SEC1, protein unc-18 homolog 1, protein unc-18 homolog A, unc-18A, unc18-1, |
|
Gene location |
9q34.11 (127612276: 127692935) Exons: 20 NC_000006.12
|
|
Gene summary(Entrez) |
This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile ep
|
|
OMIM |
602926 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Pathway id | Pathway name |
|---|
| hsa04721 | Synaptic vesicle cycle | | hsa04721 | Synaptic vesicle cycle | |
|
| Associated diseases |
References |
| Epilepsy | GAD: 19557857 |
| Controls SNARE protein complex assembly during human sperm acrosomal exocytosis | MIK: 23091057 |
| Early infantile epileptic encephalopathy | KEGG: H00606 |
| Cryptorchidism | MIK: 28606200 |
| Spermatogenic defects | MIK: 31037746 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 23091057 |
Controls S
NARE prote
in complex
assembly
during hum
an sperm a
crosomal e
xocytosis
|
|
|
|
Male infertility |
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
28 men with az
oospermia
|
Male infertility |
Microarray
|
Show abstract |
|