AutismKB

Annotation Detail 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
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005625TAS-soluble fraction8401578
GO:0005634IEA-nucleus-
GO:0005654TAS-nucleoplasm10888599
GO:0005730TAS-nucleolus16407062
GO:0005737TAS-cytoplasm16407062
GO:0005845ISS-mRNA cap binding complex-
GO:0042788TAScolocalizes_withpolysomal ribosome12837692
GO ID Evidence Qualifier GO_term References
GO:0003723TAS-RNA binding8156595
GO:0003729TAS-mRNA binding7692601
GO:0005515IPI-protein binding16407062
GO ID Evidence Qualifier GO_term References
GO:0006810IEA-transport-
GO:0007417IEA-central nervous system development-
GO:0045947ISS-negative regulation of translational initiation-
GO:0051028IEA-mRNA transport-
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
Genomic Variants Top
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
MGI Allele ID Allele Symbol Allele Source Allele Type / Mutant Cell line ID
MGI:1857169Fmr1[tm1Cgr]Allele from Mouse Targeted (knock-out)
  • nervous system phenotype
  • hearing/vestibular/ear phenotype
  • growth/size phenotype
  • endocrine/exocrine gland phenotype
  • behavior/neurological phenotype
  • reproductive system phenotype
MGI:2451086Fmr1[tm2Cgr]Allele from Mouse Targeted (knock-in)
  • nervous system phenotype
  • behavior/neurological phenotype
MGI:3603442Fmr1[tm1Cidz]Allele from Mouse Targeted (Floxed/Frt)
  • nervous system phenotype
  • behavior/neurological phenotype
MGI:3711215Fmr1[tm1Usdn]Allele from Mouse Targeted (knock-in)
  • nervous system phenotype
  • cellular phenotype
MGI:3808885Fmr1[tm1.1Cidz]Allele from Mouse Targeted (knock-out)
  • endocrine/exocrine gland phenotype
  • reproductive system phenotype
MGI:3840615Fmr1[tm1Rbd]Allele from Mouse Targeted (knock-in)
  • nervous system phenotype
  • hearing/vestibular/ear phenotype
  • endocrine/exocrine gland phenotype
  • behavior/neurological phenotype
  • reproductive system phenotype
MGI:4433165Fmr1[tm1e(EUCOMM)Wtsi]Mutant from cell lines35292
-
MGI:4433349Fmr1[tm1a(EUCOMM)Wtsi]Mutant from cell lines35292
-