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GeneQ18031379· pop 5· linked from 8 articles

Also 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
View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Image
Protein SBF1 PDB 1v5u.png
Show 5 more facts
HomoloGene ID
84710
genomic end
50483923
genomic start
50443219
cytogenetic location
22q13.33
Sources (5)

via Wikidata · CC0

~1 min read

Article

4 sections
Contents
  • Interactions
  • References
  • Further reading
  • External links

Myotubularin-related protein 5 is a protein that in humans is encoded by the SBF1 gene.

== Interactions ==

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via Wikidata sitelinks · CC0

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