FRG1

Protein FRG1 is an actin-bundling protein^[5] that in humans is encoded by the FRG1 gene.^[6][7]

PDBOrtholog search: PDBe RCSB

AliasesFRG1, FRG1A, FSG1, FSHD region gene 1

External IDsOMIM: 601278; MGI: 893597; HomoloGene: 3295; GeneCards: FRG1; OMA:FRG1 - orthologs

Chr.Chromosome 4 (human)^[1]

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FRG1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2YUG
Identifiers
Aliases	FRG1, FRG1A, FSG1, FSHD region gene 1
External IDs	OMIM: 601278; MGI: 893597; HomoloGene: 3295; GeneCards: FRG1; OMA:FRG1 - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q35.2 Start 189,940,870 bp[1] End 189,963,202 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8 A4|8 23.89 cM Start 41,850,496 bp[2] End 41,870,111 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon ganglionic eminence monocyte lymph node ventricular zone placenta Descending thoracic aorta smooth muscle tissue tibial arteries gastric mucosa Top expressed in granulocyte blood Gonadal ridge medial ganglionic eminence aortic valve superior cervical ganglion fossa condyle epiblast otic placode More reference expression data BioGPS n/a
Gene ontology Molecular function actin binding protein binding actin filament binding RNA binding Cellular component cytoplasm Cajal body catalytic step 2 spliceosome spliceosomal complex Z discdkac nucleus striated muscle dense body nucleolus Biological process rRNA processing mRNA splicing, via spliceosome muscle organ development mRNA processing ribosome biogenesis RNA splicing Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2483 14300 Ensembl ENSG00000275145 ENSG00000283153 ENSG00000109536 ENSG00000283630 ENSMUSG00000031590 UniProt Q14331 P97376 RefSeq (mRNA) NM_004477 NM_013522 RefSeq (protein) NP_004468 NP_038550 Location (UCSC) Chr 4: 189.94 – 189.96 Mb Chr 8: 41.85 – 41.87 Mb PubMed search [3] [4]
Wikidata
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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^[8] 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.^[7] Mice that overexpress FRG1 display facioscapulohumeral muscular dystrophy. Gabellili et al. suggest that human facioscapulohumeral muscular dystrophy results from overexpression of FRG1 in "skeletal muscle, which leads to abnormal alternative splicing of specific pre-mRNAs."^[9] This result has been replicated in tadpoles.^[10]