Version 5.4
Homo sapiens Gene: FRG1
Summary
InnateDB Gene IDBG-47988.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FRG1
Gene Name FSHD region gene 1
Synonyms FRG1A; FSG1
Species Homo sapiens
Ensembl Gene ENSG00000109536
Encoded Proteins
IDBP-47990
FSHD region gene 1
IDBP-712911
IDBP-596601
FSHD region gene 1
IDBP-587882
FSHD region gene 1
IDBP-599567
FSHD region gene 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:189940788-189963204
Strand Forward strand
Band q35.2
Transcripts
ENST00000226798 ENSP00000226798
ENST00000514482
ENST00000507103 ENSP00000462603
ENST00000505327
ENST00000524583 ENSP00000435067
ENST00000533157 ENSP00000436535
ENST00000531991 ENSP00000435943
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 10 [view]
Protein-Protein 9 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0030674 protein binding, bridging
GO:0044822 poly(A) RNA binding
GO:0051015 actin filament binding
Biological Process
GO:0000398 mRNA splicing, via spliceosome
GO:0006364 rRNA processing
Cellular Component
GO:0005730 nucleolus
GO:0015030 Cajal body
GO:0016607 nuclear speck
GO:0071013 catalytic step 2 spliceosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000031590
View Gene Order
ENSBTAG00000007089
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.203772
RefSeq NM_004477 XM_006714166 XM_006725447
HUGO
OMIM
CCDS CCDS34121
HPRD 03176
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca