FMR1
Gene Information
- Official Symbol: FMR1
- Official Name: FMRP translational regulator 1
- Aliases and Previous Symbols: N/A
- Entrez ID: 2332
- UniProt: Q06787
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez 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].
- UniProt Summary: N/A
Pfam Domains GO Terms
Pfam Domains
| KH 1 |
| FXR1P C |
| Agenet |
GO Terms
| positive regulation of intracellular transport of viral material |
| dendritic filopodium |
| neuronal ribonucleoprotein granule |
| viral replication complex |
| modulation by host of viral RNA genome replication |
| negative regulation of long-term synaptic depression |
| regulation of intracellular transport of viral material |
| growth cone filopodium |
| regulation of translation at postsynapse |
| regulation of translation at postsynapse, modulating synaptic transmission |
| dendritic spine neck |
| regulation of neuronal action potential |
| negative regulation of synaptic vesicle exocytosis |
| RNA strand annealing activity |
| regulation of translation at synapse |
| regulation of translation at synapse, modulating synaptic transmission |
| positive regulation of mRNA binding |
| G-quadruplex RNA binding |
| positive regulation of histone phosphorylation |
| poly(G) binding |
| positive regulation of RNA binding |
| regulation of mRNA binding |
| negative regulation of cytoplasmic translation |
| glial cell projection |
| SMN complex |
| regulation of RNA binding |
| messenger ribonucleoprotein complex |
| sequence-specific mRNA binding |
| siRNA binding |
| cellular response to hydroxyurea |
| negative regulation of neurotransmitter secretion |
| translation repressor activity |
| ribonucleoprotein granule |
| regulation of modification of synaptic structure |
| response to hydroxyurea |
| mRNA cap binding complex |
| chromocenter |
| regulation of histone phosphorylation |
| modulation by host of viral genome replication |
| regulation of long-term synaptic depression |
| negative regulation of voltage-gated calcium channel activity |
| response to antimetabolite |
| postsynaptic modulation of chemical synaptic transmission |
| regulation of transmission of nerve impulse |
| filopodium tip |
| translation regulator activity |
| negative regulation of translational initiation |
| dynein complex binding |
| translation initiation factor binding |
| RNA stem-loop binding |
| positive regulation of gene silencing by miRNA |
| negative regulation of neurotransmitter transport |
| positive regulation of posttranscriptional gene silencing |
| mRNA 5-UTR binding |
| positive regulation of receptor internalization |
| negative regulation of regulated secretory pathway |
| modulation by host of viral process |
| poly(U) RNA binding |
| extrinsic component of plasma membrane |
| regulation of cytoplasmic translation |
| positive regulation of filopodium assembly |
| miRNA binding |
| cellular response to virus |
| polysomal ribosome |
| negative regulation of exocytosis |
| regulation of voltage-gated calcium channel activity |
| negative regulation of calcium ion transmembrane transporter activity |
| negative regulation of calcium ion transmembrane transport |
| negative regulation of cation channel activity |
| positive regulation of dendritic spine development |
| polysome |
| anterograde axonal transport |
| glutamate receptor signaling pathway |
| regulation of filopodium assembly |
| regulation of action potential |
| axon terminus |
| negative regulation of mRNA catabolic process |
| positive regulation of receptor-mediated endocytosis |
| Cajal body |
| regulation of receptor internalization |
| chromosome, centromeric region |
| ribosome binding |
| axonal transport |
| axon cytoplasm |
| negative regulation of RNA catabolic process |
| negative regulation of calcium ion transport |
| negative regulation of synaptic transmission |
| positive regulation of viral life cycle |
| methylated histone binding |
| regulation of alternative mRNA splicing, via spliceosome |
| cytoplasmic stress granule |
| axo-dendritic transport |
| cytoplasmic ribonucleoprotein granule |
| negative regulation of ion transmembrane transporter activity |
| modification by host of symbiont morphology or physiology |
| positive regulation of dendrite development |
| presynaptic membrane |
| regulation of dendritic spine development |
| mRNA 3-UTR binding |
| interaction with symbiont |
| regulation of synaptic vesicle exocytosis |
| negative regulation of mRNA metabolic process |
| regulation of translational initiation |
| negative regulation of transporter activity |
| negative regulation of cation transmembrane transport |
| postsynapse |
| cellular response to UV |
| regulation of gene silencing by miRNA |
| gene silencing by RNA |
| regulation of calcium ion transmembrane transporter activity |
| regulation of gene silencing by RNA |
| regulation of posttranscriptional gene silencing |
| regulation of dendrite morphogenesis |
| positive regulation of histone modification |
| regulation of viral genome replication |
| response to antineoplastic agent |
| presynapse |
| negative regulation of ion transmembrane transport |
| cell projection |
| regulation of mRNA splicing, via spliceosome |
| positive regulation of response to DNA damage stimulus |
| positive regulation of endocytosis |
| regulation of receptor-mediated endocytosis |
| positive regulation of plasma membrane bounded cell projection assembly |
| positive regulation of chromatin organization |
| positive regulation of proteasomal protein catabolic process |
| regulation of neurotransmitter secretion |
| positive regulation of viral process |
| modification of morphology or physiology of other organism involved in symbiotic interaction |
| regulation of synaptic vesicle cycle |
| cellular response to light stimulus |
| negative regulation of transmembrane transport |
| positive regulation of proteolysis involved in cellular protein catabolic process |
| chromosome |
| positive regulation of translation |
| ion channel binding |
| growth cone |
| regulation of gene silencing |
| negative regulation of translation |
| perikaryon |
| regulation of RNA splicing |
| regulation of nervous system process |
| regulation of mRNA processing |
| positive regulation of cellular protein catabolic process |
| response to UV |
| regulation of neurotransmitter transport |
| regulation of viral life cycle |
| regulation of histone modification |
| regulation of calcium ion transmembrane transport |
| negative regulation of cellular amide metabolic process |
| negative regulation of ion transport |
| dendritic spine |
| regulation of dendrite development |
| positive regulation of synaptic transmission |
| positive regulation of cellular amide metabolic process |
| gene silencing |
| ribonucleoprotein complex |
| mRNA transport |
| modification of morphology or physiology of other organism |
| transport along microtubule |
| mRNA binding |
| regulation of regulated secretory pathway |
| regulation of cation channel activity |
| cellular response to radiation |
| positive regulation of chromosome organization |
| cytoskeleton-dependent intracellular transport |
| positive regulation of binding |
| regulation of mRNA stability |
| microtubule-based transport |
| regulation of proteasomal protein catabolic process |
| regulation of RNA stability |
| regulation of synaptic plasticity |
| regulation of chromatin organization |
| nucleic acid transport |
| RNA transport |
| establishment of RNA localization |
| regulation of plasma membrane bounded cell projection assembly |
| postsynaptic membrane |
| regulation of mRNA catabolic process |
| regulation of cell projection assembly |
| negative regulation of secretion by cell |
| regulation of viral process |
| regulation of endocytosis |
| positive regulation of protein catabolic process |
| regulation of proteolysis involved in cellular protein catabolic process |
| RNA localization |
| regulation of synapse organization |
| regulation of response to DNA damage stimulus |
| cellular response to inorganic substance |
| regulation of symbiosis, encompassing mutualism through parasitism |
| regulation of exocytosis |
| regulation of synapse structure or activity |
| negative regulation of secretion |
| microtubule binding |
| nucleobase-containing compound transport |
| regulation of cellular protein catabolic process |
| regulation of calcium ion transport |
| postsynaptic density |
| negative regulation of cellular catabolic process |
| regulation of ion transmembrane transporter activity |
| regulation of transmembrane transporter activity |
| synapse |
| microtubule-based movement |
| regulation of transporter activity |
| positive regulation of neuron projection development |
| response to virus |
| axon |
| regulation of cell morphogenesis involved in differentiation |
| response to light stimulus |
| negative regulation of catabolic process |
| cellular response to abiotic stimulus |
| cellular response to environmental stimulus |
| neuron projection |
| regulation of mRNA metabolic process |
| regulation of cation transmembrane transport |
| regulation of chromosome organization |
| regulation of translation |
| regulation of neurotransmitter levels |
| positive regulation of proteolysis |
| positive regulation of cellular catabolic process |
| positive regulation of neuron differentiation |
| neuronal cell body |
| regulation of binding |
| positive regulation of cell projection organization |
| regulation of protein catabolic process |
| regulation of metal ion transport |
| chromatin binding |
| RNA splicing |
| cellular response to drug |
| regulation of cellular amide metabolic process |
| dendrite |
| regulation of membrane potential |
| positive regulation of catabolic process |
| response to radiation |
| modulation of chemical synaptic transmission |
| regulation of trans-synaptic signaling |
| positive regulation of neurogenesis |
| mRNA processing |
| regulation of ion transmembrane transport |
| negative regulation of transport |
| protein heterodimerization activity |
| regulation of cell morphogenesis |
| regulation of neuron projection development |
| positive regulation of multi-organism process |
| positive regulation of cellular component biogenesis |
| posttranscriptional regulation of gene expression |
| response to inorganic substance |
| positive regulation of nervous system development |
| positive regulation of cell development |
| cell junction |
| regulation of vesicle-mediated transport |
| regulation of transmembrane transport |
| regulation of system process |
| positive regulation of organelle organization |
| regulation of neuron differentiation |
| cellular response to nitrogen compound |
| microtubule-based process |
| mRNA metabolic process |
| regulation of plasma membrane bounded cell projection organization |
| perinuclear region of cytoplasm |
| regulation of ion transport |
| viral process |
| regulation of cell projection organization |
| regulation of proteolysis |
| regulation of cellular response to stress |
| regulation of secretion by cell |
| regulation of multi-organism process |
| cellular response to DNA damage stimulus |
| symbiotic process |
| regulation of secretion |
| regulation of neurogenesis |
| interspecies interaction between organisms |
| regulation of cellular catabolic process |
| nucleolus |
| RNA processing |
| protein homodimerization activity |
| regulation of cellular localization |
| regulation of nervous system development |
| regulation of cell development |
| regulation of cellular component biogenesis |
| positive regulation of cell differentiation |
| central nervous system development |
| positive regulation of transport |
| regulation of catabolic process |
| positive regulation of protein phosphorylation |
| response to drug |
| negative regulation of cellular protein metabolic process |
| positive regulation of phosphorylation |
| regulation of anatomical structure morphogenesis |
| identical protein binding |
| response to nitrogen compound |
| negative regulation of protein metabolic process |
| positive regulation of phosphate metabolic process |
| positive regulation of phosphorus metabolic process |
| negative regulation of molecular function |
| response to abiotic stimulus |
| positive regulation of cellular component organization |
| positive regulation of protein modification process |
| regulation of organelle organization |
| response to other organism |
| response to external biotic stimulus |
| response to biotic stimulus |
| negative regulation of RNA metabolic process |
| negative regulation of cell communication |
| negative regulation of signaling |
| positive regulation of developmental process |
| negative regulation of cellular macromolecule biosynthetic process |
| RNA binding |
| negative regulation of nucleobase-containing compound metabolic process |
| regulation of protein phosphorylation |
| negative regulation of macromolecule biosynthetic process |
| regulation of response to stress |
| negative regulation of cellular biosynthetic process |
| intracellular transport |
| generation of neurons |
| negative regulation of biosynthetic process |
| movement of cell or subcellular component |
| regulation of phosphorylation |
| positive regulation of cellular protein metabolic process |
| neurogenesis |
| RNA metabolic process |
| cellular response to stress |
| positive regulation of protein metabolic process |
| negative regulation of gene expression |
| positive regulation of multicellular organismal process |
| positive regulation of molecular function |
| regulation of phosphate metabolic process |
| regulation of phosphorus metabolic process |
| regulation of cell differentiation |
| positive regulation of cell communication |
| positive regulation of signaling |
| establishment of localization in cell |
| regulation of protein modification process |
| nitrogen compound transport |
| regulation of transport |
| positive regulation of macromolecule biosynthetic process |
| positive regulation of cellular biosynthetic process |
| positive regulation of gene expression |
| membrane |
| gene expression |
| positive regulation of biosynthetic process |
CRISPR Data
Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Compound Hit
| Screen | Score |
|---|---|
| Curcumin 6.5μM R06 exp277 | -2.02 |
| UNC2400 2μM R03 exp156 | 1.86 |
| MLN-4924 0.2μM R00 exp21 | 1.93 |
| IU1-47 25μM R04 exp182 | 1.97 |
Most Correlated Genes in Chemogenomics
No correlation found to any other genes in chemogenomics.
Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Global Fraction of Cell Lines Where Essential: 0/694
| Tissue | Fraction Of Cell Lines Where Essential |
|---|---|
| 1290807.0 | 0/1 |
| 909776.0 | 0/1 |
| bile duct | 0/28 |
| blood | 0/26 |
| bone | 0/26 |
| breast | 0/30 |
| central nervous system | 0/49 |
| cervix | 0/4 |
| colorectal | 0/17 |
| esophagus | 0/11 |
| fibroblast | 0/1 |
| gastric | 0/14 |
| kidney | 0/18 |
| liver | 0/19 |
| lung | 0/72 |
| lymphocyte | 0/16 |
| ovary | 0/25 |
| pancreas | 0/22 |
| peripheral nervous system | 0/15 |
| plasma cell | 0/12 |
| prostate | 0/1 |
| skin | 0/20 |
| soft tissue | 0/9 |
| thyroid | 0/2 |
| upper aerodigestive | 0/22 |
| urinary tract | 0/28 |
| uterus | 0/5 |
Essentiality in NALM6
- Essentiality Rank: 13011
- Expression level (log2 read counts): 5.92
Expression Distribution
FMR1 Expression in NALM6 Cells: 5.92
