protein FRG1 (facioscapulohumeral muscular dystrophy region gene 1 protein, FSHD region gene 1 protein, FRG1)

Function: 1) role in processing of pre-rRNA or in assembly of rRNA into ribosomal subunits (putative) 2) role in pre-mRNA splicing (putative) 3) component of spliceosome C complex Compartment: - nucleus, Cajal body, nuclear speckle, nucleolus - 1st expressed in Cajal bodies & nuclear speckles - as speckle expression diminishes, expression is seen in dense structures (dense fibrillar component & granular component) of nucleolus Expression: - expressed in adult muscle, lymphocytes, fetal brain, muscle, placenta

Properties

SIZE: MW = 29 kD entity length = 258 aa COMPARTMENT: cell nucleus MOTIF: lysine-rich region {8-32} MOTIF: lysine residue (SEVERAL) nuclear translocation signal {22-32} nuclear translocation signal {235-251}

Database Correlations

OMIM 601278 UniProt Q14331 Pfam PF06229

References

UniProt :accession Q14331