FXR1

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]

FMR1 Autosomal Homolog 1

RNA-binding protein required for embryonic and postnatal development of muscle tissue (PubMed:30770808).

May regulate intracellular transport and local translation of certain mRNAs (By similarity).

Apoptotic process Source: ProtInc
Cell differentiation Source: UniProtKB-KW
Muscle organ development Source: UniProtKB
Negative regulation of translation Source: GO_Central
Positive regulation of gene silencing by miRNA Source: UniProtKB
Positive regulation of protein phosphorylation Source: GO_Central
Positive regulation of response to DNA damage stimulus Source: GO_Central
Positive regulation of translation Source: GO_Central
Regulation of alternative mRNA splicing, via spliceosome Source: GO_Central
Regulation of filopodium assembly Source: GO_Central
Regulation of mRNA stability Source: GO_Central
Skeletal muscle organ development Source: UniProtKB

Cytosol. Adjacent to Z-lines in muscles.

Myopathy, congenital, with respiratory insufficiency and bone fractures (MYORIBF):
An autosomal recessive muscular disorder characterized by severe hypotonia apparent at birth, poor feeding, ulnar deviation of the hands, laterally deviated feet, fractures of the long bones, respiratory insufficiency due to muscle weakness, and death in infancy.
Myopathy, congenital proximal, with minicore lesions (MYOPMIL):
An autosomal recessive, slowly progressive muscular disorder characterized by primarily proximal muscle weakness, neonatal hypotonia leading to delayed motor development, mildly delayed walking in childhood, and difficulty running or climbing. Cardiac function is unaffected, but most patients have obstructive sleep apnea. Muscle biopsy shows type 1 fiber predominance with disorganized Z-lines and minicores that disrupt the myofibrillar striation pattern.

Arg-445 is dimethylated, probably to asymmetric dimethylarginine.