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SBF1
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]
Protein class
Disease related genes, Human disease related genes
Predicted location
Intracellular
Single cell type specificity
Low cell type specificity
Immune cell specificity
Low immune cell specificity
Cell line specificity
Low cell line specificity
Interaction
Heterodimer with lipid phosphatase MTMR2 (PubMed:12668758). Interacts with KMT2A/MLL1 (via SET domain) (PubMed:9537414). Interacts with SUV39H1 (PubMed:10848615).
Molecular function
Guanine-nucleotide releasing factor
More Types Infomation
- APC-B*07:02/Human SBF1 (RPYSNVSNL) MHC Tetramer (MHC-LC2103)
-
- Class: Class I
- Antigen: SBF1
- Antigen Species: Human
- Peptide: RPYSNVSNL
- Conjugate: APC
- PE-B*07:02/Human SBF1 (RPYSNVSNL) MHC Tetramer (MHC-LC2102)
-
- Class: Class I
- Antigen: SBF1
- Antigen Species: Human
- Peptide: RPYSNVSNL
- Conjugate: PE
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For Research Use Only. Not For Clinical Use.