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Gene: FMR1 (FMRP translational regulator 1) Homo sapiens
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Symbol: FMR1
Name: FMRP translational regulator 1
Description: Exhibits several functions, including RNA binding activity; ion channel binding activity; and protein dimerization activity. Involved in several processes, including positive regulation of macromolecule metabolic process; regulation of plasma membrane bounded cell projection organization; and regulation of viral life cycle. Localizes to several cellular components, including the messenger ribonucleoprotein complex; nuclear lumen; and perikaryon. Colocalizes with the SMN complex. Implicated in fragile X syndrome; fragile X-associated tremor/ataxia syndrome; and premature ovarian failure.
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; 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 (FMRP translational regulator 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Fmr1 (FMRP translational regulator 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Fmr1 (FMRP translational regulator 1)
Pan paniscus (bonobo/pygmy chimpanzee) : FMR1 (FMRP translational regulator 1)
Canis lupus familiaris (dog) : FMR1 (FMRP translational regulator 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Fmr1 (FMRP translational regulator 1)
Sus scrofa (pig) : FMR1 (FMRP translational regulator 1)
Chlorocebus sabaeus (green monkey) : FMR1 (FMRP translational regulator 1)
Heterocephalus glaber (naked mole-rat) : Fmr1 (FMRP translational regulator 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 EnsemblX147,911,951 - 147,951,125 (+)Ensembl
GRCh38X147,911,919 - 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)
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Disease Annotations
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References - uncurated

Genomics

Comparative Map Data
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miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
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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

RGD Object Information
RGD ID: 735919
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2020-02-11
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.