Gene Information | |
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Gene Name | FMR1 |
Organism | Homo sapiens (Human) |
Gene Length | 632 |
Protein Names | Fragile X messenger ribonucleoprotein 1 (Fragile X messenger ribonucleoprotein) (FMRP) (Protein FMR-1) |
Target Name | NA |
Target Type | NA |
Gene Age | 987 ( ENSG00000102081 ) |
Evolutionary Stage | Eumetazoa |
AlphaFoldDB | Q06787 |
Gene Card | FMR1 |
Uniprot ID | Q06787 |
Pfam | PF05641; PF16098; PF12235; PF00013; PF17904; PF18336 |
In ASD | yes |
Allosteric Prediction | yes (0.767613854) |
Ortholog in Animals | Alpaca_ FMR1 ( ortholog_one2one ) Dog_ FMR1 ( ortholog_one2one ) GuineaPig_ FMR1 ( ortholog_one2one ) Macaque_ FMR1 ( ortholog_one2one ) Mouse_ Fmr1 ( ortholog_one2one ) Pig_ FMR1 ( ortholog_one2one ) Rat_ Fmr1 ( ortholog_one2one ) Rabbit_ FMR1 ( ortholog_one2one ) |
Ohnologs | FXR1, FXR2 |
Paralogs | FXR1, FXR2 |
Tissue | NA |
Tissue Specificity | Expressed in the brain, cerebellum and testis (PubMed:8401578). Also expressed in epithelial tissues (PubMed:8401578). Expressed in mature oligodendrocytes (OLGs) (PubMed:23891804). Expressed in fibroblast (PubMed:24204304). Expressed in neurons, Purkinje cells and spermatogonias (at protein level) (PubMed:8401578). Expressed in brain, testis and placenta (PubMed:8504300). Expressed in neurons and lymphocytes (PubMed:8504300). {ECO:0000269|PubMed:23891804, ECO:0000269|PubMed:24204304, ECO:0000269|PubMed:8401578, ECO:0000269|PubMed:8504300}. |
Pharmacological Animal Models | NA |
Gene Ontology (biological process) |
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Gene Ontology (cellular component) |
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Gene Ontology (molecular function) |
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PDB | 2BKD (NMR - ) 2FMR (NMR - ) 2LA5 (NMR - ) 2QND (X-ray 1.90A ) 4OVA (X-ray 3.00A ) 4QVZ (X-ray 3.20A ) 4QW2 (X-ray 2.99A ) 5DE5 (X-ray 3.00A ) 5DE8 (X-ray 3.10A ) 5DEA (X-ray 2.80A ) 5UWJ (X-ray 2.22A ) 5UWO (X-ray 2.35A ) |
DBSNP | rs200163413 rs29281 rs1569545763 rs121434622 rs782651077 |
Subcellular location [CC] | Nucleus {ECO:0000269|PubMed:10196376, ECO:0000269|PubMed:16571602, ECO:0000269|PubMed:18936162}. Nucleus, nucleolus {ECO:0000269|PubMed:12837692, ECO:0000269|PubMed:16407062, ECO:0000269|PubMed:16571602, ECO:0000269|PubMed:24658146}. Chromosome, centromere {ECO:0000250|UniProtKB:P35922}. Chromosome {ECO:0000250|UniProtKB:P35922}. Cytoplasm {ECO:0000269|PubMed:10196376, ECO:0000269|PubMed:12837692, ECO:0000269|PubMed:18664458, ECO:0000269|PubMed:18936162, ECO:0000269|PubMed:7781595, ECO:0000269|PubMed:8401578, ECO:0000269|PubMed:8515814}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:24658146}. Cytoplasm, Cytoplasmic ribonucleoprotein granule {ECO:0000269|PubMed:12417734, ECO:0000269|PubMed:14532325, ECO:0000269|PubMed:15380484, ECO:0000269|PubMed:16636078, ECO:0000269|PubMed:18093976, ECO:0000269|PubMed:9659908}. Perikaryon {ECO:0000269|PubMed:12417734, ECO:0000269|PubMed:15380484, ECO:0000269|PubMed:18093976}. Cell projection, neuron projection {ECO:0000269|PubMed:12417734, ECO:0000269|PubMed:15380484, ECO:0000269|PubMed:18093976}. Cell projection, axon {ECO:0000250|UniProtKB:P35922}. Cell projection, dendrite {ECO:0000250|UniProtKB:P35922}. Cell projection, dendritic spine {ECO:0000250|UniProtKB:P35922}. Synapse, synaptosome {ECO:0000250|UniProtKB:P35922}. Cell projection, growth cone {ECO:0000269|PubMed:15380484}. Cell projection, filopodium tip {ECO:0000250|UniProtKB:P35922}. Synapse {ECO:0000250|UniProtKB:P35922}. Postsynaptic cell membrane {ECO:0000250|UniProtKB:P35922}. Presynaptic cell membrane {ECO:0000250|UniProtKB:P35922}. Cell membrane {ECO:0000250|UniProtKB:P35922}. Cytoplasm, Stress granule {ECO:0000269|PubMed:16636078, ECO:0000269|PubMed:18632687, ECO:0000269|PubMed:18664458}. Note=Colocalizes with H2AX/H2A.x in pericentromeric heterochromatin in response to DNA damaging agents (By similarity). Localizes on meiotic pachytene-stage chromosomes (By similarity). Forms nuclear foci representing sites of ongoing DNA replication in response to DNA damaging agents (By similarity). Shuttles between nucleus and cytoplasm in a XPO1/CRM1-dependent manner (PubMed:10196376). Localizes to cytoplasmic ribonucleoprotein granules, also referred to as messenger ribonucleoprotein particles or mRNPs, along dendrites and dendritic spines (PubMed:9659908, PubMed:14532325). FMR1-containing cytoplasmic granules colocalize to F-actin-rich structures, including filopodium, spines and growth cone during the development of hippocampal neurons (By similarity). FMR1-containing cytoplasmic granules are transported out of the soma along axon and dendrite to synaptic contacts in a microtubule- and kinesin-dependent manner (PubMed:12417734, PubMed:15380484). Colocalizes with CACNA1B in the cytoplasm and at the cell membrane of neurons (By similarity). Colocalizes with CYFIP1, CYFIP2, NXF2 and ribosomes in the perinuclear region (By similarity). Colocalizes with CYFIP1 and EIF4E in dendrites and probably at synapses (By similarity). Colocalizes with FXR1, kinesin, 60S acidic ribosomal protein RPLP0 and SMN in cytoplasmic granules in the soma and neurite cell processes (PubMed:12417734, PubMed:18093976, PubMed:16636078). Colocalizes with FXR1 and FXR2 in discrete granules, called fragile X granules (FXGs), along axon and presynaptic compartments (By similarity). Colocalizes with TDRD3 in cytoplasmic stress granules (SGs) in response to various cellular stress (PubMed:18632687, PubMed:18664458, PubMed:16636078). {ECO:0000250|UniProtKB:P35922, ECO:0000250|UniProtKB:Q80WE1, ECO:0000269|PubMed:10196376, ECO:0000269|PubMed:12417734, ECO:0000269|PubMed:14532325, ECO:0000269|PubMed:15380484, ECO:0000269|PubMed:16636078, ECO:0000269|PubMed:18093976, ECO:0000269|PubMed:18632687, ECO:0000269|PubMed:18664458, ECO:0000269|PubMed:9659908}.; [Isoform 6]: Cytoplasm {ECO:0000269|PubMed:24204304, ECO:0000269|PubMed:8789445}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:24204304}.; [Isoform 9]: Cytoplasm {ECO:0000269|PubMed:24204304, ECO:0000269|PubMed:8789445}.; [Isoform 10]: Nucleus {ECO:0000269|PubMed:8789445}. Nucleus, Cajal body {ECO:0000269|PubMed:24204304}. Note=Colocalizes with Colin and SMN in Cajal bodies (PubMed:24204304).; [Isoform 11]: Nucleus {ECO:0000269|PubMed:8789445}. Nucleus, Cajal body {ECO:0000269|PubMed:24204304}. |
Mouse PG classification | NA |
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