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FRG1
This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple human chromosomes but DNA sequence analysis did not reveal any homology to known genes. In vivo studies demonstrate the encoded protein is localized to the nucleolus.
Protein class
Disease related genes, Human disease related genes
Predicted location
Intracellular
Single cell type specificity
Low cell type specificity
Immune cell specificity
Low immune cell specificity
Cell line specificity
Low cell line specificity
Interaction
Homodimer and homotetramer in solution. Identified in the spliceosome C complex. Interacts with KMT5B (via C-terminus). Interacts (via N-terminus) with KPNA2 and NXF1/TAP. Interacts with F-actin with a stoichiometry of 2:1. Interacts with GARIN3, SMN1 and PABPN1 (PubMed:17103222).
Molecular function
Actin-binding, RNA-binding
More Types Infomation
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- Species Reactivity: Human
- Application: ICC/IF, WB
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- Derivation: Phage display library
- Species Reactivity: Mouse, Rat, Human
- Type: Rabbit IgG
- Application: WB, ICC, IF, IP
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For Research Use Only. Not For Clinical Use.