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.
In the Vinony graph
Within Vinony's link graph, SBF1 is referenced by 8 other articles, and connects out to PubMed, human chromosome 22 and Ensembl genome database project.
It is catalogued under the topic Genes on human chromosome 22.
Its subject is documented across 5 Wikipedia language editions.
Gene data
SBF1- Name
- SET binding factor 1
- Type
- protein-coding
- Position
- 50,443,219–50,483,923 (−)
- Aliases
- CMT4B3, DENND7A, MTMR5
- Ensembl
- ENSG00000100241
- RefSeq RNA
- NM_001365819.1, NM_001410794.1, NM_001410795.1, NM_002972.4
- RefSeq protein
- NP_001352748.1, NP_001397723.1, NP_001397724.1, NP_002963.2
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].
Gene Ontology
Biological process
Molecular function
Pathways
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
- Instance of
- gene
- Image
- Protein SBF1 PDB 1v5u.png
Show 8 more facts
- HomoloGene ID
- 84710
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/6305
- genomic end
- 50483923
- genomic start
- 50443219
- chromosome
- human chromosome 22
- cytogenetic location
- 22q13.33
- expressed in
- amygdala
via Wikidata · CC0
~1 min read
Encyclopedic overview
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 ==
Excerpted from Wikipedia’s “SBF1” article, available under the CC BY-SA 4.0 licence.