Version 5.4
Mus musculus Gene: Fmr1
Summary
InnateDB Gene IDBG-149366.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Fmr1
Gene Name fragile X mental retardation syndrome 1
Synonyms Fmr-1; FMRP
Species Mus musculus
Ensembl Gene ENSMUSG00000000838
Encoded Proteins
IDBP-149368
fragile X mental retardation syndrome 1 homolog
IDBP-251287
fragile X mental retardation syndrome 1 homolog
IDBP-251289
fragile X mental retardation syndrome 1 homolog
IDBP-251291
fragile X mental retardation syndrome 1 homolog
IDBP-251293
fragile X mental retardation syndrome 1 homolog
IDBP-251295
fragile X mental retardation syndrome 1 homolog
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000102081:
The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]
The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5\' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome X:68678541-68717963
Strand Forward strand
Band A7.1
Transcripts
ENSMUST00000088546 ENSMUSP00000085906
ENSMUST00000114657 ENSMUSP00000110305
ENSMUST00000114656 ENSMUSP00000110304
ENSMUST00000114655 ENSMUSP00000110303
ENSMUST00000114654 ENSMUSP00000110302
ENSMUST00000114653 ENSMUSP00000110301
ENSMUST00000127954
ENSMUST00000146177
ENSMUST00000148348
ENSMUST00000133327
ENSMUST00000142584
ENSMUST00000141728
ENSMUST00000127993
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 26 interaction(s) predicted by orthology.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 26 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0008017 microtubule binding
GO:0044822 poly(A) RNA binding
Biological Process
GO:0007417 central nervous system development
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005844 polysome
GO:0005874 microtubule
GO:0010494 cytoplasmic stress granule
GO:0016020 membrane
GO:0030425 dendrite
GO:0036464 cytoplasmic ribonucleoprotein granule
GO:0043005 neuron projection
GO:0043197 dendritic spine
GO:0043198 dendritic shaft
GO:0044297 cell body
GO:0045202 synapse
GO:0071598 neuronal ribonucleoprotein granule
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000102081
View Gene Order
ENSBTAG00000012552
Not yet available
Pathways
NETPATH
REACTOME
KEGG
mmu03013
RNA transport pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
KEGG
hsa03013
RNA transport pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.3451 Mm.473383 Mm.487300
RefSeq NM_001290424 NM_008031 XM_006527811 XM_006527812
OMIM
CCDS CCDS30171 CCDS72385
HPRD
IMGT
MGI ID
MGI Symbol
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