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]

Description

SET binding factor 1

Tissue specificity

Low tissue specificity

Subcell location

Nuclear bodies

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

22 (50445000 - 50475035)

Ensembl ID

ENSG00000100241  (ver. 103.38)

Orthologs

Mouse Sbf1: ENSMUSG00000036529

UniProt

O95248

neXtProt

NX_O95248

Human splice variants
Mouse splice variants

Protein structure