Frg1 FSHD region gene 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Frg1provided by MGI
Official Full Name: FSHD region gene 1provided by MGI
Primary source: MGI:MGI:893597
See related: Ensembl:ENSMUSG00000031590 AllianceGenome:MGI:893597
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Predicted to enable actin filament binding activity. Predicted to act upstream of or within RNA processing and muscle organ development. Predicted to be located in cytoplasm and nucleus. Predicted to be part of catalytic step 2 spliceosome. Predicted to be active in nucleolus and striated muscle dense body. Is expressed in several structures, including 1st branchial arch mandibular component; genitourinary system; liver; mandible primordium; and spleen. Orthologous to human FRG1 (FSHD region gene 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in CNS E11.5 (RPKM 2.3), placenta adult (RPKM 1.6) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 A4; 8 23.89 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (41842218..41870179, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (41389181..41417138, complement)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

FRG1 is involved in the morphogenesis of the tooth germ, as well as in the formation of enamel and dentin matrices and that FRG1 may play a role in the odontogenesis in the mouse following BMP4 stimulation.
Title: Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) expression and possible function in mouse tooth germ development.
Mouse Frg1 genomic area lacks DUX4 binding sites and DUX4 is unable to activate the endogenous mouse Frg1 gene providing a possible explanation for the lack of muscle phenotype in DUX4 transgenic mice.
Title: Direct interplay between two candidate genes in FSHD muscular dystrophy.
This study suggests a novel role of FRG1 as epigenetic regulator of muscle differentiation and indicates that Suv4-20h1 has a gene-specific function in myogenesis.
Title: FSHD muscular dystrophy region gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis.
On the basis of these results, it was proposed that aberrant fTnT represents a biological marker of muscle phenotype severity and disease progression.
Title: Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1).
transgenic overexpression results in a muscle-growth defect and a muscle regeneration impairment
Title: Overexpression of facioscapulohumeral muscular dystrophy region gene 1 causes primary defects in myogenic stem cells.
our results suggest that a component of FSHD pathogenesis may arise by over-expression of FRG1, reducing Rbfox1 levels and leading to aberrant expression of an altered Calpain 3 protein through dysregulated splicing
Title: Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD).

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Frg1 (e-PCR), detects polymorphism
- UniSTS:143139

Frg1 (e-PCR), detects polymorphism
- UniSTS:143140

Frg1 (e-PCR), detects polymorphism
- UniSTS:143141

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables actin binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within RNA splicing	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within mRNA processing	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within muscle organ development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within rRNA processing	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within ribosome biogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of catalytic step 2 spliceosome	IBA Inferred from Biological aspect of Ancestor more info
part_of catalytic step 2 spliceosome	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
part_of spliceosomal complex	IEA Inferred from Electronic Annotation more info
is_active_in striated muscle dense body	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: protein FRG1

Names: FSHD region gene 1 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_013522.3 → NP_038550.2 protein FRG1

See identical proteins and their annotated locations for NP_038550.2

Status: VALIDATED

Source sequence(s)

AK077107, BE334154, BE655768

Consensus CDS

CCDS22263.1

UniProtKB/Swiss-Prot

P97376, Q99M42

UniProtKB/TrEMBL

Q3V3M3, Q78P92

Related

ENSMUSP00000033999.7, ENSMUST00000033999.8

Conserved Domains (1) summary

pfam06229
Location:67 → 256

FRG1; FRG1-like domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000074.7 Reference GRCm39 C57BL/6J

Range

41842218..41870179 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017312570.3 → XP_017168059.1 protein FRG1 isoform X1

UniProtKB/Swiss-Prot

P97376, Q99M42

UniProtKB/TrEMBL

Q3V3M3, Q78P92

Conserved Domains (1) summary

pfam06229
Location:67 → 256

FRG1; FRG1-like domain