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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| SET binding factor 1 | MIM:603560 | Ensembl:ENSG00000100241 | HGNC:HGNC:10542 | PA34953 | 22q13.33 |
GO terms in SBF1
| 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 |
| BP | IEA | GO:0007283 | spermatogenesis |
| BP | IEA | GO:0043087 | regulation of GTPase activity |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | TAS | GO:0005789 | endoplasmic reticulum membrane |
| CC | TAS | GO:0005829 | cytosol |
| CC | TAS | GO:0016021 | integral component of membrane |
| CC | IDA | GO:0016604 | nuclear body |
Gene expression in normal tissue: SBF1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SBF1
| 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 |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
| reactome | R-HSA-8876198 | RAB GEFs exchange GTP for GDP on RABs |
| reactome | R-HSA-9007101 | Rab regulation of trafficking |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SBF1
CLASSFICATION
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.