Version 5.4
Homo sapiens Gene: FMR1
Summary
InnateDB Gene IDBG-88380.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FMR1
Gene Name fragile X mental retardation 1
Synonyms FMRP; FRAXA; POF; POF1
Species Homo sapiens
Ensembl Gene ENSG00000102081
Encoded Proteins
IDBP-88382
fragile X mental retardation 1
IDBP-88384
fragile X mental retardation 1
IDBP-88386
fragile X mental retardation 1
IDBP-88388
fragile X mental retardation 1
IDBP-88390
fragile X mental retardation 1
IDBP-88392
fragile X mental retardation 1
IDBP-382121
fragile X mental retardation 1
IDBP-382123
fragile X mental retardation 1
IDBP-808816
fragile X mental retardation 1
IDBP-808818
fragile X mental retardation 1
IDBP-808822
fragile X mental retardation 1
IDBP-808806
fragile X mental retardation 1
IDBP-808815
fragile X mental retardation 1
IDBP-808828
fragile X mental retardation 1
IDBP-808829
fragile X mental retardation 1
IDBP-808830
fragile X mental retardation 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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:147911951-147951125
Strand Forward strand
Band q27.3
Transcripts
ENST00000370477 ENSP00000359508
ENST00000218200 ENSP00000218200
ENST00000370475 ENSP00000359506
ENST00000370471 ENSP00000359502
ENST00000334557 ENSP00000355115
ENST00000370470 ENSP00000359501
ENST00000439526 ENSP00000395923
ENST00000440235 ENSP00000413764
ENST00000495717 ENSP00000481474
ENST00000475038 ENSP00000480450
ENST00000492846
ENST00000463120 ENSP00000480886
ENST00000478848
ENST00000616614 ENSP00000480513
ENST00000621447 ENSP00000484324
ENST00000620828
ENST00000611273
ENST00000616382 ENSP00000481058
ENST00000621987 ENSP00000477839
ENST00000621453 ENSP00000479528
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 61 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 61 [view]
Protein-Protein 58 [view]
Protein-DNA 2 [view]
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003723 RNA binding
GO:0003729 mRNA binding
GO:0005515 protein binding
GO:0008017 microtubule binding
GO:0044822 poly(A) RNA binding
Biological Process
GO:0007417 central nervous system development
GO:0045947 negative regulation of translational initiation
GO:0051028 mRNA transport
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005844 polysome
GO:0005845 mRNA cap binding complex
GO:0005874 microtubule
GO:0010494 cytoplasmic stress granule
GO:0016020 membrane
GO:0030425 dendrite
GO:0036464 cytoplasmic ribonucleoprotein granule
GO:0042788 polysomal ribosome
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
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000000838
View Gene Order
ENSBTAG00000012552
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa03013
RNA transport pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.596971
RefSeq NM_001185075 NM_001185076 NM_001185081 NM_001185082 NM_002024
HUGO
OMIM
CCDS CCDS14682 CCDS55518 CCDS55519 CCDS76039
HPRD 02398
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