InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FMR1

Summary

InnateDB Protein

IDBP-88386.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FMR1

Protein Name

fragile X mental retardation 1

Synonyms

FMRP; FRAXA; POF; POF1;

Species

Homo sapiens

Ensembl Protein

ENSP00000359506

InnateDB Gene

IDBG-88380 (FMR1)

Protein Structure

UniProt Annotation

Function

Translation repressor. Component of the CYFIP1-EIF4E- FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit mediates translation repression (By similarity). RNA- binding protein that plays a role in intracellular RNA transport and in the regulation of translation of target mRNAs. Associated with polysomes. May play a role in the transport of mRNA from the nucleus to the cytoplasm. Binds strongly to poly(G), binds moderately to poly(U) but shows very little binding to poly(A) or poly(C). {ECO:0000250}.

Subcellular Localization

Cytoplasm. Nucleus, nucleolus.

Disease Associations

Fragile X syndrome (FRAX) [MIM:300624]: Common genetic disease (has a prevalence of one in every 2000 children) which is characterized by moderate to severe mental retardation, macroorchidism (enlargement of the testicles), large ears, prominent jaw, and high-pitched, jocular speech. The defect in most fragile X syndrome patients results from an amplification of a CGG repeat region which is directly in front of the coding region. {ECO:0000269PubMed:7688265, ECO:0000269PubMed:8401578, ECO:0000269PubMed:8490650}. Note=The disease is caused by mutations affecting the gene represented in this entry.Fragile X tremor/ataxia syndrome (FXTAS) [MIM:300623]: In FXTAS, the expanded repeats range in size from 55 to 200 repeats and are referred to as 'premutations'. Full repeat expansions with greater than 200 repeats results in fragile X mental retardation syndrome [MIM:300624]. Carriers of the premutation typically do not show the full fragile X syndrome phenotype, but comprise a subgroup that may have some physical features of fragile X syndrome or mild cognitive and emotional problems. {ECO:0000269PubMed:11445641}. Note=The disease is caused by mutations affecting the gene represented in this entry.Premature ovarian failure 1 (POF1) [MIM:311360]: An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. {ECO:0000269PubMed:9719368}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highest levels found in neurons, brain, testis, placenta and lymphocytes. Also expressed in epithelial tissues and at very low levels in glial cells. {ECO:0000269PubMed:8401578, ECO:0000269PubMed:8504300}.

Comments

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