After several years of serving the research community, our ActiveDriverDB database will be retired on May 1st 2026. Please make sure to download any data you need and update your links or workflows before that date.

We want to sincerely thank all our users for their support, feedback, and collaboration over the years — your contributions have been invaluable to this project. A special thank you to Dr. Michal Krassowski for leading the development of our open-source software and database.

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You are viewing an updated version (2021) of the ActiveDriverDB. To view the previous version please visit activedriverdb.org/v2020

FXR1 (NM_005087) - FMR1 autosomal homolog 1

Fragile X Mental Retardation Syndrome-Related Protein 1 Isoform A

Mutations Visualisation

Protein summary

This is preferred isoform of FXR1 protein. View all 3 isoforms
FXR1: fragile X mental retardation syndrome-related protein 1 isoform a
Description:

The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].

Strand
+
Chromosome
3
Protein
621 residues
All mutations
84
PTM sites
58
CDS
180,630,473 - 180,694,080
Transcription
180,630,233 - 180,700,539
50.08% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 8087
UniProt
Ensembl