Fragile X mental retardation syndrome-related protein 1; hFXR1p (FXR1)

Function

• RNA-binding protein required for embryonic & postnatal development of muscle tissue
• may regulate intracellular transport & local translation of certain mRNAs (putative)
• interacts with FMR1 & FXR2. interacts with TDRD3, & with CYFIP2 but not with CYFIP1

Structure

• belongs to the FMR1 family
• contains 2 KH domains
• Arg-445 is dimethylated, probably to asymmetric dimethylarginine

Compartment

cytoplasm

Alternative splicing

named isoforms=3 alternative splicing appears to be tissue-specific

Expression

• expressed in all tissues examined including heart, brain, kidney & testis

More general terms

• RNA-binding protein
• nuclear protein
• phosphoprotein

Database

• UniProt: http://www.uniprot.org/uniprot/P51114.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=8087
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:8087
• OMIM: https://mirror.omim.org/entry/600819