• Gene id: 2483

Gene Summary

• Gene Symbol: FRG1   Gene   UCSC   Ensembl
• Aliases: FRG1A, FSG1
• Gene name: FSHD region gene 1
• Alternate names: protein FRG1, FSHD region gene 1 protein, facioscapulohumeral muscular dystrophy region gene-1,
• Gene location: 4q35.2 (189940845: 189963203)     Exons: 8     NC_000004.12
• Gene summary(Entrez): 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 seque
• OMIM: 601278

Protein Summary

• Protein general information: Q14331  
  • Name: Protein FRG1 (FSHD region gene 1 protein)
  • Length: 258  
  • Mass: 29172
  • 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
• Sequence:

  MAEYSYVKSTKLVLKGTKTKSKKKKSKDKKRKREEDEETQLDIVGIWWTVTNFGEISGTIAIEMDKGTYIHALDN
  GLFTLGAPHKEVDEGPSPPEQFTAVKLSDSRIALKSGYGKYLGINSDGLVVGRSDAIGPREQWEPVFQNGKMALL
  ASNSCFIRCNEAGDIEAKSKTAGEEEMIKIRSCAERETKKKDDIPEEDKGNVKQCEINYVKKFQSFQDHKLKISK
  EDSKILKKARKDGFLHETLLDRRAKLKADRYCK

• Structural information:
  • Interpro: IPR008999  IPR010414  
  • STRING: ENSP00000226798
• Other Databases: GeneCards:  FRG1  Malacards:  FRG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071013	catalytic step 2 spliceosome	IBA	cellular component
GO:0055120	striated muscle dense body	IBA	cellular component
GO:0051015	actin filament binding	IBA	molecular function
GO:0005730	nucleolus	IBA	cellular component
GO:0071013	catalytic step 2 spliceosome	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0007517	muscle organ development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0006364	rRNA processing	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0015030	Cajal body	IEA	cellular component
GO:0030018	Z disc	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Facioscapulohumeral muscular dystrophy	KEGG:H00591
Facioscapulohumeral muscular dystrophy	KEGG:H00591
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)