SBF1
Summary: This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:603560 Ensembl IDEnsembl:ENSG00000100241 HGNC IDHGNC:HGNC:10542 PHARMGKB IDPA34953 Map Location22q13.33 | |||||
GO terms in SBF1
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | TAS | GO:0008138 | protein tyrosine/serine/threonine phosphatase activity |
| MF | IDA | GO:0017112 | Rab guanyl-nucleotide exchange factor activity |
| MF | TAS | GO:0017112 | Rab guanyl-nucleotide exchange factor activity |
| MF | IEA | GO:0019208 | phosphatase regulator activity |
| BP | TAS | GO:0006470 | protein dephosphorylation |
| BP | TAS | GO:0006661 | phosphatidylinositol biosynthetic process |
Gene expression in normal tissue: SBF1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SBF1
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1483248 | Synthesis of PIPs at the ER membrane |
| reactome | R-HSA-1483255 | PI Metabolism |
| reactome | R-HSA-1483257 | Phospholipid metabolism |
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-556833 | Metabolism of lipids |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SBF1
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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