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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
SET binding factor 1MIM:603560Ensembl:ENSG00000100241HGNC:HGNC:10542PA3495322q13.33

GO terms in SBF1


Term TypeEvidence TypeGO Term IDGO Des.
MFTASGO:0008138protein tyrosine/serine/threonine phosphatase activity
MFIDAGO:0017112Rab guanyl-nucleotide exchange factor activity
MFTASGO:0017112Rab guanyl-nucleotide exchange factor activity
MFIEAGO:0019208phosphatase regulator activity
BPTASGO:0006470protein dephosphorylation
BPTASGO:0006661phosphatidylinositol biosynthetic process
BPIEAGO:0007283spermatogenesis
BPIEAGO:0043087regulation of GTPase activity
CCIDAGO:0005737cytoplasm
CCTASGO:0005789endoplasmic reticulum membrane
CCTASGO:0005829cytosol
CCTASGO:0016021integral component of membrane
CCIDAGO:0016604nuclear body

Gene expression in normal tissue: SBF1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in SBF1


DatabasePathway IDPathway Des.
reactomeR-HSA-1430728Metabolism
reactomeR-HSA-1483248Synthesis of PIPs at the ER membrane
reactomeR-HSA-1483255PI Metabolism
reactomeR-HSA-1483257Phospholipid metabolism
reactomeR-HSA-199991Membrane Trafficking
reactomeR-HSA-556833Metabolism of lipids
reactomeR-HSA-5653656Vesicle-mediated transport
reactomeR-HSA-8876198RAB GEFs exchange GTP for GDP on RABs
reactomeR-HSA-9007101Rab regulation of trafficking

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD353PD03259011

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in SBF1

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