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- Table of Contents
Facts about Synaptic functional regulator FMR1.
Plays a role in mRNA nuclear export (By similarity). Together with export variable NXF2, is involved in the regulation of the NXF1 mRNA stability in neurons (By similarity).
Human | |
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Gene Name: | FMR1 |
Uniprot: | Q06787 |
Entrez: | 2332 |
Belongs to: |
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FMR1 family |
FMRPFRAXAPOF; fragile X mental retardation 1 protein; fragile X mental retardation 1; MGC87458; POF1; premature ovarian failure 1; Protein FMR-1
Mass (kDA):
71.174 kDA
Human | |
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Location: | Xq27.3 |
Sequence: | X; NC_000023.11 (147911919..147951127) |
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).
Nucleus. Nucleus, nucleolus. Chromosome, centromere. Chromosome. Cytoplasm. Cytoplasm, perinuclear region. Cytoplasm, Cytoplasmic ribonucleoprotein granule. Perikaryon. Cell projection, neuron projection. Cell projection, axon. Cell projection, dendrite. Cell projection, dendritic spine. Cell junction, synapse, synaptosome. Cell projection, growth cone. Cell projection, filopodium tip. Cell junction, synapse. Cell junction, synapse, postsynaptic cell membrane. Cell junction, synapse, presynaptic cell membrane. Cell membrane. Cytoplasm, Stress granule. Colocalizes with H2AX/H2A.x in pericentrom
PMID: 1710175 by Verkerk A.J.M.H., et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.
PMID: 8504300 by Verkerk A.J.M.H., et al. Alternative splicing in the fragile X gene FMR1.