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- Table of Contents
Facts about Protein FRG1.
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 KMT5B.
Human | |
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Gene Name: | FRG1 |
Uniprot: | Q14331 |
Entrez: | 2483 |
Belongs to: |
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FRG1 family |
facioscapulohumeral muscular dystrophy region gene-1; FSG1FRG1A; FSHD region gene 1 protein; FSHD region gene 1; protein FRG1
Mass (kDA):
29.172 kDA
Human | |
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Location: | 4q35.2 |
Sequence: | 4; NC_000004.12 (189940846..189963204) |
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.
Nucleus, Cajal body. Nucleus, nucleolus. Cytoplasm. Cytoplasm, myofibril, sarcomere, Z line. Localization changes during myogenesis from mainly cytoplasmic in undifferentiated myoblasts, to strongly nucleolar in early myotubes and back to cytoplasmic 5 days post-differentiation (PubMed:20970242). Localized at the Z-line in the sarcomere of matured myotubes 8 days post-differentiation (PubMed:20970242).
PMID: 8733123 by van Deutekom J.C.T., et al. Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35.
PMID: 10512680 by van Geel M., et al. The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements.