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Gene: FMR1 (fragile X mental retardation 1) Homo sapiens
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Symbol: FMR1
Name: fragile X mental retardation 1
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FMR-1; FMRP; fragile site, folic acid type, rare, fra(X)(q27.3), (macroorchidism, mental retardation); fragile X mental retardation 1 protein; fragile X mental retardation protein 1; fragile x mental retardation syndrome 1 homolog; FRAXA; FRAXA; MGC87458; POF; POF1; premature ovarian failure 1; synaptic functional regulator FMR1; truncated FMRP
Orthologs:
Mus musculus (house mouse) : Fmr1 (fragile X mental retardation 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Fmr1 (fragile X mental retardation 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Fmr1 (fragile X mental retardation 1)
Pan paniscus (bonobo/pygmy chimpanzee) : FMR1 (fragile X mental retardation 1)
Canis lupus familiaris (dog) : FMR1 (fragile X mental retardation 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Fmr1 (fragile X mental retardation 1)
Sus scrofa (pig) : FMR1 (fragile X mental retardation 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X147,911,951 - 147,951,127 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X146,993,469 - 147,032,647 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X146,801,201 - 146,840,303 (+)NCBINCBI36hg18NCBI36
Build 34X146,699,054 - 146,738,157NCBI
CeleraX147,345,446 - 147,384,585 (+)NCBI
Cytogenetic MapXq27.3NCBI
HuRefX135,963,879 - 135,993,282 (+)NCBIHuRef
CHM1_1X146,904,323 - 146,943,501 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on FMR1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 735919
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.