InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FRG1

Summary

InnateDB Protein

IDBP-47990.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FRG1

Protein Name

FSHD region gene 1

Synonyms

FRG1A; FSG1;

Species

Homo sapiens

Ensembl Protein

ENSP00000226798

InnateDB Gene

IDBG-47988 (FRG1)

Protein Structure

UniProt Annotation

Function

Binds to mRNA in a sequence-independent manner. May play a role in regulation of pre-mRNA splicing or in the assembly of rRNA into ribosomal subunits. May be involved in mRNA transport. May be involved in epigenetic regulation of muscle differentiation through regulation of activity of the histone-lysine N- methyltransferase SUV420H1. {ECO:0000269PubMed:11991638, ECO:0000269PubMed:15060122, ECO:0000269PubMed:20970242, ECO:0000269PubMed:21699900, ECO:0000269PubMed:23720823}.

Subcellular Localization

Nucleus, Cajal body. Nucleus, nucleolus. Cytoplasm. Cytoplasm, myofibril, sarcomere, Z line. Note=Localization changes during myogenesis from mainly cytoplasmic in undifferentiated myoblasts, to strongly nucleolar in early myotubes and back to cytoplasmic 5 days post- differentiation. Localized at the Z-line in the sarcomere of matured myotubes 8 days post-differentiation.

Disease Associations

Facioscapulohumeral muscular dystrophy 1 (FSHD1) [MIM:158900]: A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. {ECO:0000269PubMed:16341202, ECO:0000269PubMed:23720823}. Note=The gene represented in this entry may be involved in disease pathogenesis. Overexpression of human FRG1 in mice leads to development of facioscapulohumeral muscular dystrophy (FSHD1)-like symptoms such as kyphosis, progressive muscle dystrophy and skeletal muscle atrophy (PubMed:16341202). It also causes aberrant pre-mRNA splicing of TNNT3 and MTMR1, affects the localization and activity of SUV420H1, and leads to increased levels of EID3, resulting in inhibited muscle differentiation (PubMed:23720823). These results suggest that FSHD1 results from inappropriate overexpression of FRG1 which leads to abnormal alternative splicing of specific pre-mRNAs. {ECO:0000269PubMed:16341202, ECO:0000269PubMed:23720823}.

Tissue Specificity

Expressed in adult muscle, lymphocytes, fetal brain, muscle, and placenta. Also expressed in the smooth muscle of arteries and veins, the sweat glands and the epidermis. {ECO:0000269PubMed:20970242}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.