SBF1
Sign in to saveAlso known as CMT4B3, DENND7A, MTMR5, SET binding factor 1
Myotubularin-related protein 5 is a protein that in humans is encoded by the SBF1 gene.
Gene data
SBF1- Name
- SET binding factor 1
- Type
- protein-coding
- Aliases
- CMT4B3, DENND7A, MTMR5
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].
via MyGene.info
Gene · Ensembl
SET binding factor 1
- Symbol
- SBF1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 22:50,443,219-50,483,923
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein SBF1 PDB 1v5u.png
Show 5 more facts
- HomoloGene ID
- 84710
- exact match
- identifiers.org/ncbigene/6305
- genomic end
- 50483923
- genomic start
- 50443219
- cytogenetic location
- 22q13.33
via Wikidata · CC0
~1 min read
Article
4 sectionsContents
- Interactions
- References
- Further reading
- External links
Myotubularin-related protein 5 is a protein that in humans is encoded by the SBF1 gene.
== Interactions ==