AutismKB 2.0

Annotation Details for FMR1


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Basic Information Top
Gene Symbol:FMR1 ( FMRP,FRAXA,MGC87458,POF,POF1 )
Gene Full Name: fragile X mental retardation 1
Band: Xq27.3
Quick LinksEntrez ID:2332; OMIM: 309550; Uniprot ID:FMR1_HUMAN; ENSEMBL ID: ENSG00000102081; HGNC ID: 3775
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000775IEA-chromosome, centromeric region-
GO:0005634IDA-nucleus18936162
GO:0005634ISS-nucleus-
GO:0005654IDA-nucleoplasm16571602
GO:0005694ISS-chromosome-
GO:0005730IDA-nucleolus16571602
GO:0005730TAS-nucleolus16407062
GO:0005737IDA-cytoplasm9659908
GO:0005737TAS-cytoplasm16407062
GO:0005829IDA-cytosol-
GO:0005844IDA-polysome9659908
GO:0005844ISS-polysome-
GO:0005845ISS-mRNA cap binding complex-
GO:0010369ISS-chromocenter-
GO:0014069ISS-postsynaptic density-
GO:0015030IEA-Cajal body-
GO:0016020IDA-membrane19946888
GO:0019034IDA-viral replication complex24514761
GO:0019897ISS-extrinsic component of plasma membrane-
GO:0030054IEA-cell junction-
GO:0030424ISS-axon-
GO:0030425ISS-dendrite-
GO:0030426IDA-growth cone15380484
GO:0030529IDA-intracellular ribonucleoprotein complex9659908
GO:0032433ISS-filopodium tip-
GO:0032797IDAcolocalizes_withSMN complex18093976
GO:0036464IDA-cytoplasmic ribonucleoprotein granule15121898
GO:0042734IEA-presynaptic membrane-
GO:0042788TAScolocalizes_withpolysomal ribosome12837692
GO:0042995IDA-cell projection15380484
GO:0043005IDA-neuron projection18093976
GO:0043197ISS-dendritic spine-
GO:0043204IDA-perikaryon15380484
GO:0043204ISS-perikaryon-
GO:0043679ISS-axon terminus-
GO:0045202ISS-synapse-
GO:0045211IEA-postsynaptic membrane-
GO:0048471IDA-perinuclear region of cytoplasm24658146
GO:0071598ISS-neuronal ribonucleoprotein granule-
GO:0097386ISS-glial cell projection-
GO:0098793ISS-presynapse-
GO:0098794ISS-postsynapse-
GO:1902737ISS-dendritic filopodium-
GO:1990124IDA-messenger ribonucleoprotein complex25225333
GO:1990812ISS-growth cone filopodium-
GO:1990904IDA-ribonucleoprotein complex19097999
GO ID Evidence Qualifier GO_term References
GO:0002151IDA-G-quadruplex RNA binding18653529
GO:0003682ISS-chromatin binding-
GO:0003723IDA-RNA binding15381419
GO:0003723IMP-RNA binding10496225
GO:0003729IDA-mRNA binding11157796
GO:0003730IDA-mRNA 3'-UTR binding17417632
GO:0005515IPI-protein binding7489725
GO:0008017ISS-microtubule binding-
GO:0008266IDA-poly(U) RNA binding7688265
GO:0030371IDA-translation repressor activity11157796
GO:0031369IPI-translation initiation factor binding24658146
GO:0033592IDA-RNA strand annealing activity17057366
GO:0034046IDA-poly(G) binding7688265
GO:0035064IDA-methylated histone binding24813610
GO:0035197IDA-siRNA binding17057366
GO:0035198IDA-miRNA binding17057366
GO:0035613IDA-RNA stem-loop binding15805463
GO:0042802IDA-identical protein binding11157796
GO:0042803IDA-protein homodimerization activity7489725
GO:0043022IPI-ribosome binding24658146
GO:0044325IPI-ion channel binding25561520
GO:0046982IDA-protein heterodimerization activity7489725
GO:0048027IDA-mRNA 5'-UTR binding19166269
GO:0070840ISS-dynein complex binding-
GO:1990825IDA-sequence-specific mRNA binding12927206
GO ID Evidence Qualifier GO_term References
GO:0000381IDA-regulation of alternative mRNA splicing, via spliceosome18653529
GO:0002092IDA-positive regulation of receptor internalization25561520
GO:0006397IEA-mRNA processing-
GO:0006974IDA-cellular response to DNA damage stimulus24813610
GO:0007215ISS-glutamate receptor signaling pathway-
GO:0008380IEA-RNA splicing-
GO:0031047IEA-gene silencing by RNA-
GO:0033129IDA-positive regulation of histone phosphorylation24813610
GO:0034644ISS-cellular response to UV-
GO:0043488ISS-regulation of mRNA stability-
GO:0044830IMP-modulation by host of viral RNA genome replication24514761
GO:0045727IDA-positive regulation of translation19097999
GO:0045947ISS-negative regulation of translational initiation-
GO:0046928ISS-regulation of neurotransmitter secretion-
GO:0051028ISS-mRNA transport-
GO:0051489IDA-regulation of filopodium assembly16631377
GO:0051491ISS-positive regulation of filopodium assembly-
GO:0060964IMP-regulation of gene silencing by miRNA25464849
GO:0060998IDA-regulation of dendritic spine development16631377
GO:0060999ISS-positive regulation of dendritic spine development-
GO:0072711ISS-cellular response to hydroxyurea-
GO:0098586IDA-cellular response to virus24514761
GO:0098908IDA-regulation of neuronal action potential25561520
GO:1900453ISS-negative regulation of long term synaptic depression-
GO:1901254IMP-positive regulation of intracellular transport of viral material24514761
GO:1901386ISS-negative regulation of voltage-gated calcium channel activity-
GO:1901800ISS-positive regulation of proteasomal protein catabolic process-
GO:1902373IMP-negative regulation of mRNA catabolic process25225333
GO:1902416IDA-positive regulation of mRNA binding25464849
GO:2000301ISS-negative regulation of synaptic vesicle exocytosis-
GO:2000637IDA-positive regulation of gene silencing by miRNA17057366
GO:2000766ISS-negative regulation of cytoplasmic translation-
GO:2001022IDA-positive regulation of response to DNA damage stimulus24813610
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
FXR2FMR11148907489725 8668200 10567518 Affinity Capture-Western; Co-purification; Reconstituted Complex; Two-hybrid
FXR2FMR11086197489725 8668200 10567518 Affinity Capture-Western; Co-purification; Reconstituted Complex; Two-hybrid
FMR1FMR11086197489725 10567518 Affinity Capture-Western; Two-hybrid
FXR1FMR11137607489725 8668200 Co-purification; Reconstituted Complex; Two-hybrid
FXR1FMR11086197489725 8668200 Co-purification; Reconstituted Complex; Two-hybrid
NUFIP1FMR111780710556305 12837692 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
NUFIP1FMR110861910556305 12837692 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
NCLFMR111077110567518 Affinity Capture-Western
NCLFMR110861910567518 Affinity Capture-Western
UBE2IFMR111317711367701 Two-hybrid
UBE2IFMR110861911367701 Two-hybrid
CYFIP1FMR111680011438699 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
CYFIP1FMR110861911438699 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
CYFIP2FMR111794511438699 12837692 Reconstituted Complex; Two-hybrid
CYFIP2FMR110861911438699 12837692 Reconstituted Complex; Two-hybrid
NUFIP2FMR112159112837692 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
NUFIP2FMR110861912837692 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
PRKAA1FMR111154920562859 Affinity Capture-MS
PRKAA1FMR110861920562859 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
No data
Gene Symbol Poly Names Gene overview in PDGene
FMR1FMR1_3bpSTR Gene overview in PDGene
No data
Animal Model Top
  • MGI ID: MGI:95564
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-020731-6'