STXBP5L
Summary: The protein encoded by this gene is similar to syntaxin-binding protein 5 and contains ten N-terminal WD40 repeats, four variable region WD40 repeats, and a C-terminal R-SNARE domain. Studies of the orthologous proteins in mouse and rat have shown that the encoded protein may inhibit exocytosis in neurosecretory cells, and may negatively regulate the secretion of insulin. A missense variant in this gene is likely the cause of an infantile-onset neurodegenerative disorder diagnosed in two siblings of consanguineous parents. [provided by RefSeq, Jan 2017].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:609381 Ensembl IDEnsembl:ENSG00000145087 HGNC IDHGNC:HGNC:30757 PHARMGKB IDPA134976391 Map Location3q13.33 | |||||
GO terms in STXBP5L
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IBA | GO:0005737 | cytoplasm |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | IEA | GO:0016021 | integral component of membrane |
| BP | IEA | GO:0006887 | exocytosis |
| BP | IEA | GO:0015031 | protein transport |
| BP | IBA | GO:0017157 | regulation of exocytosis |
Gene expression in normal tissue: STXBP5L
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in STXBP5L
Database | Pathway ID | Pathway Des. |
|---|---|---|
| No matching records found | ||
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in STXBP5L
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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