| Gene Symbol |
FRG1
|
| Entrez Gene |
2483
|
| Alt Symbol |
FRG1A, FSG1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
FSHD region gene 1
|
| Other Description |
FSHD region gene 1 protein|facioscapulohumeral muscular dystrophy region gene-1|protein FRG1
|
| Swissprots |
Q14331 A8K775
|
| Accessions |
AAD46768 EAX04600 Q14331 AA749391 AK291890 BAF84579 BC053997 AAH53997 BG426031 HQ448060 ADQ32541 L76159 AAA95939 XR_938715 XR_952267 NM_004477 NP_004468
|
| 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:0000269|PubMed:11991638, ECO:0000269|PubMed:15060122, ECO:0000269|PubMed:20970242, ECO:0000269|PubMed:21699900, ECO:0000269|PubMed:23720823}.
|
| Subcellular Location |
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.
|
| 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:0000269|PubMed:20970242}.
|