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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FMR1 Gene

protein-coding   GIFtS: 68
GCID: GC0XP146993

Fragile X Mental Retardation 1

(Previous name: premature ovarian failure 1)
(Previous symbols: POF1, POF)
Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Fragile X Mental Retardation 11 2     FRAXA2 5
POF1 2     Premature Ovarian Failure 11
POF11 2     Fragile X Mental Retardation Protein 12
FMRP2 3     Protein FMR-13

External Ids:    HGNC: 37751   Entrez Gene: 23322   Ensembl: ENSG000001020817   OMIM: 3095505   UniProtKB: Q067873   
ORGUL members:         
NONCODE14:n409339      

Export aliases for FMR1 gene to outside databases

Previous GC identifers: GC0XP141519 GC0XP143827 GC0XP144850 GC0XP145661 GC0XP146699 GC0XP146801 GC0XP135963


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FMR1 Gene:
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)

GeneCards Summary for FMR1 Gene: 
FMR1 (fragile X mental retardation 1) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with FMR1 include fragile x syndrome, and fragile x-associated tremor/ataxia syndrome. GO annotations related to this gene include mRNA binding and RNA binding. An important paralog of this gene is FXR1.

UniProtKB/Swiss-Prot: FMR1_HUMAN, Q06787
Function: Translation repressor. Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and
mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit mediates translation repression
(By similarity). RNA-binding protein that plays a role in intracellular RNA transport and in the regulation of
translation of target mRNAs. Associated with polysomes. May play a role in the transport of mRNA from the nucleus
to the cytoplasm. Binds strongly to poly(G), binds moderately to poly(U) but shows very little binding to poly(A)
or poly(C)

Gene Wiki entry for FMR1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_011681.16  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FMR1 gene promoter:
         SRF   NF-1   AP-2alpha isoform 3   SRF (504 AA)   FOXD1   AP-2alpha isoform 2   IRF-7A   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFMR1 promoter sequence
   Search SABiosciences Chromatin IP Primers for FMR1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FMR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq27.3   Ensembl cytogenetic band:  Xq27.3   HGNC cytogenetic band: Xq27.3

FMR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FMR1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP146993:  view genomic region     (about GC identifiers)

Start:
146,993,469 bp from pter      End:
147,032,647 bp from pter
Size:
39,179 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FMR1_HUMAN, Q06787 (See protein sequence)
Recommended Name: Fragile X mental retardation protein 1  
Size: 632 amino acids; 71174 Da
Subunit: Component of the CYFIP1-EIF4E-FMR1 complex which is composed of CYFIP, EIF4E and FMR1. Interacts with
CYFIP1 and CYFIP2. The interaction with brain cytoplasmic RNA 1 (BC1) increases binding affinity for the
CYFIP1-EIF4E complex in the brain (By similarity). Homooligomer. Found in a RNP granule complex with IGF2BP1.
Directly interacts with SMN and TDRD3. Interacts with the SMN core complex that contains SMN1, GEMIN2/SIP1,
DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Interacts with FXR1, FXR2, IGF2BP1, NUFIP1,
NUFIP2, MCRS1 and RANBP9
Subcellular location: Cytoplasm. Nucleus, nucleolus
Miscellaneous: RNA-binding activity is inhibited by RANBP9
Miscellaneous: The mechanism of the severe phenotype in the Asn-304 patient lies in the sequestration of bound
mRNAs in nontranslatable mRNP particles. In the absence of FMRP, these same mRNAs may be partially translated via
alternate mRNPs, although perhaps abnormally localized or regulated, resulting in typical fragile X syndrome.
Asn-304 mutation maps to a position within the second KH domain of FMRP that is critical for stabilizing
sequence-specific RNA-protein interactions. Asn-304 mutation abrogates the association of the FMRP KH 2 domain
with its target, kissing complex RNA
Sequence caution: Sequence=AAA52458.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAA62466.1; Type=Erroneous gene model prediction; Sequence=AAA62467.1; Type=Erroneous gene model
prediction;
4 PDB 3D structures from and Proteopedia for FMR1:
2BKD (3D)        2FMR (3D)        2LA5 (3D)        2QND (3D)    
Secondary accessions: A6NNH4 D3DWT0 D3DWT1 D3DWT2 Q16578 Q5PQZ6 Q99054
Alternative splicing: 8 isoforms:  Q06787-1   Q06787-2   Q06787-3   Q06787-4   Q06787-5   Q06787-6   Q06787-7   Q06787-8   

Explore the universe of human proteins at neXtProt for FMR1: NX_Q06787

Explore proteomics data for FMR1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated on several serine residues (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q06787

  • FMR1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FMR1 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001172004.1  NP_001172005.1  NP_001172010.1  NP_001172011.1  NP_002015.1  

    ENSEMBL proteins: 
     ENSP00000359508   ENSP00000355115   ENSP00000395923   ENSP00000359506   ENSP00000359501  
     ENSP00000218200   ENSP00000359502   ENSP00000413764  

    Human Recombinant Protein Products for FMR1: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FMR1 

    Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS10888599
    GO:0005730nucleolus TAS16407062
    GO:0005737cytoplasm TAS16407062
    GO:0005845mRNA cap binding complex ISS--

    FMR1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for FMR1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR004087 KH_dom
     IPR008395 Agenet-like_dom
     IPR022034 Frag_X_MRP_fam
     IPR004088 KH_dom_type_1

    Graphical View of Domain Structure for InterPro Entry Q06787

    ProtoNet protein and cluster: Q06787

    3 Blocks protein domains:
    IPB004087 KH domain
    IPB004088 KH
    IPB008395 Agenet


    UniProtKB/Swiss-Prot: FMR1_HUMAN, Q06787
    Domain: The tandem Tudor domains preferentially recognize trimethylated histone peptides (By similarity)
    Similarity: Belongs to the FMR1 family
    Similarity: Contains 2 Agenet-like domains
    Similarity: Contains 2 KH domains


    FMR1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FMR1_HUMAN, Q06787
    Function: Translation repressor. Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and
    mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit mediates translation repression
    (By similarity). RNA-binding protein that plays a role in intracellular RNA transport and in the regulation of
    translation of target mRNAs. Associated with polysomes. May play a role in the transport of mRNA from the nucleus
    to the cytoplasm. Binds strongly to poly(G), binds moderately to poly(U) but shows very little binding to poly(A)
    or poly(C)

         Genatlas biochemistry entry for FMR1:
    FRAXA syndrome nucleocytoplasmic shuttling protein with a 5'utr polymorphic CGG repeat homodimerizing and
    heterodimerizing with FXR1,FXR2 (see symbols),expressed in fetal and adult brain and testis

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding TAS8156595
    GO:0003729mRNA binding TAS7692601
    GO:0005515protein binding IPI10556305
         
    FMR1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for FMR1:
     G0/1 arrest  Increased G1 DNA content 

         8 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Fmr1):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size  integument 
     nervous system  reproductive system  vision/eye 

    FMR1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for FMR1: Fmr1tm1Cgr Fmr1tm1.1Cidz

       inGenious Targeting Laboratory - Custom generated mouse model solutions for FMR1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FMR1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FMR1 
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    SwitchGear 3'UTR luciferase reporter plasmidFMR1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for FMR1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1RNA transport
    RNA transport
    2Neuroscience
    Neuroscience
    3Translational Control
    Translational Control

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for FMR1
        Translational Control
    Neuroscience


    1         Kegg Pathway  (Kegg details for FMR1):
        RNA transport


    FMR1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FMR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/148 Interacting proteins for FMR1 (Q067871, 2, 3 ENSP000003595064) via UniProtKB, MINT, STRING, and/or I2D (see all 148)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCLP193382, 3, ENSP000003181954MINT-6488791 I2D: score=4 STRING: ENSP00000318195
    FXR2P511162, 3, ENSP000002501134MINT-6488791 I2D: score=3 STRING: ENSP00000250113
    HABP4Q5JVS02, 3, ENSP000003643984MINT-8194397 I2D: score=1 STRING: ENSP00000364398
    CYFIP1Q7L5761, 2, 3, ENSP000003245494EBI-366305,EBI-1048143 MINT-19272 MINT-19271 MINT-19273 I2D: score=7 STRING: ENSP00000324549
    CYFIP2Q96F071, 2, 3, ENSP000003909484EBI-366305,EBI-2433893 MINT-15317 MINT-15318 I2D: score=5 STRING: ENSP00000390948
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007417central nervous system development IEA--
    GO:0045947negative regulation of translational initiation ISS--
    GO:0051028mRNA transport IEA--

    FMR1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    FMR1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for FMR1

    10/23 Novoseek inferred chemical compound relationships for FMR1 gene (see all 23)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ecori 46.4 6 1710175 (2), 10601577 (1), 1642231 (1), 9490298 (1)
    sodium bisulfite 41.8 2 17259243 (1), 18172867 (1)
    cytosine 39.5 6 8197163 (1), 8268919 (1), 9199556 (1), 10319871 (1) (see all 5)
    hpaii 25.4 3 8826444 (2), 1605194 (1)
    glutamate 25 20 15028757 (2), 16647847 (1), 18957214 (1), 19017158 (1) (see all 12)
    5-aza-2'deoxycytidine 23.3 11 10545613 (2), 18622267 (1), 10319871 (1)
    acetyl-l-carnitine 21.8 1 12807975 (1)
    agarose 3.45 1 8530006 (1)
    creatinine 1.1 1 15338463 (1)
    calcium 0.223 2 15028757 (1)

    Search CenterWatch for drugs/clinical trials and news about FMR1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FMR1 gene (5 alternative transcripts): 
    NM_001185075.1  NM_001185076.1  NM_001185081.1  NM_001185082.1  NM_002024.5  

    Unigene Cluster for FMR1:

    Fragile X mental retardation 1
    Hs.103183  [show with all ESTs]
    Unigene Representative Sequence: AB209188
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370477 ENST00000334557(uc011mwz.2) ENST00000439526 ENST00000370475(uc011mxa.2 uc004fcl.4)
    ENST00000495717 ENST00000370470 ENST00000475038 ENST00000492846 ENST00000463120
    ENST00000478848 ENST00000218200(uc004fcj.3 uc010nst.3 uc022cgd.1 uc004fck.4 uc022cge.1 uc022cgg.1)
    ENST00000370471(uc022cgc.1 uc022cgf.1) ENST00000440235

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    Additional mRNA sequence: 

    AB209188.1 AK294104.1 AK302707.1 BC038998.1 BC086957.1 M67468.1 NR_033699.1 NR_033700.1 
    S65791.1 X69962.1 

    13 DOTS entries:

    DT.121316665  DT.86847141  DT.92429942  DT.91907648  DT.40210980  DT.97781416  DT.100785804  DT.101973945 
    DT.121316661  DT.92429946  DT.100785805  DT.75109144  DT.75178900 

    24/161 AceView cDNA sequences (see all 161):

    BM757464 BM955874 AA648969 AI632532 BM674238 AU136101 BX498094 BM715918 
    AI262950 AU137845 BM981866 AI985139 BF592098 BF593035 AL119734 AW001682 
    BQ287827 AL120230 BM701283 BU520771 AI478824 AU139964 BF055997 AI953545 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for FMR1 (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^
    SP1:                    -                       -                                                                                                               
    SP2:                                                                                                        -                                                   
    SP3:                                                                                                        -                                                   
    SP4:                    -                                                                                                                                       
    SP5:                                                                                                        -                                                   

    ExUns: 17a · 17b · 17c · 17d ^ 18 ^ 19 ^ 20a · 20b · 20c
    SP1:                                                      
    SP2:                                                      
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for FMR1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FMR1 expression in normal human tissues (normalized intensities)      FMR1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGTTTTTAA
    FMR1 Expression
    About this image


    FMR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/29 selected tissues (see all 29) fully expand
     
     Brain (Nervous System)    fully expand to see all 14 entries
             Thalamus
             Olfactory Bulb   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             seminal vesicle ; glandular cells   

    See FMR1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FMR1

    SOURCE GeneReport for Unigene cluster: Hs.103183

    UniProtKB/Swiss-Prot: FMR1_HUMAN, Q06787
    Tissue specificity: Highest levels found in neurons, brain, testis, placenta and lymphocytes. Also expressed in
    epithelial tissues and at very low levels in glial cells

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for FMR1 gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fmr11 , 5 fragile X mental retardation syndrome 1 homolog5
    fragile X mental retardation syndrome 11
    95.17(n)1
    97.64(a)1
      X (34.83 cM)5
    142651  NM_008031.21  NP_032057.21 
     686785415 
    chicken
    (Gallus gallus)
    Aves FMR11 fragile X mental retardation 1 85.68(n)
    92.22(a)
      422395  XM_003641126.1  XP_003641174.1 
    lizard
    (Anolis carolinensis)
    Reptilia FMR16
    Uncharacterized protein
    86(a)
    1 ↔ 1
    AAWZ02036280(7573-21430)
    African clawed frog
    (Xenopus laevis)
    Amphibia U25164.12   -- 79.24(n)    U25164.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AF305882.12   -- 78.95(n)   259191  AF305882.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Fmr13 negative regulation of translation mRNA
    binding
    45(a)     --


    ENSEMBL Gene Tree for FMR1 (if available)
    TreeFam Gene Tree for FMR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FMR1 gene
    FXR12  FXR22  
    2 SIMAP similar genes for FMR1 using alignment to 8 protein entries:     FMR1_HUMAN (see all proteins):
    FXR1    FXR2

    FMR1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/588 SNPs in FMR1 are shown (see all 588)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0052344
    Fragile X syndrome (FRAX)4--see VAR_0052342 I N mis40--------
    rs803583231,2
    Cuntested1146955924(+) ACAAAA/GACTAT 7 -- int10--------
    rs803583241,2
    Cuntested1146959400(+) TTGCTG/TAAATG 7 -- int10--------
    VAR_0052354
    ----see VAR_0052352 R H mis40--------
    VAR_0645074
    ----see VAR_0645072 R Q mis40--------
    rs105218681,2
    C,F,H--146943909(+) GATCTA/CTATCG 7 -- us2k119--NS EA NA WA CSA 1757
    rs126878861,2
    H--146943937(+) GTCTAC/GAAGAA 7 -- us2k10--------
    rs1917577251,2
    --146943973(+) GGAAAA/CAATAA 7 -- us2k10--------
    rs1842695691,2
    --146944014(+) ACCCTA/GTAGGG 7 -- us2k10--------
    rs357391451,2
    C,F--146944027(+) TGATAT/CGACAA 7 -- us2k11Minor allele frequency- C:0.22EU 113

    HapMap Linkage Disequilibrium report for FMR1 (146993469 - 147032647 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for FMR1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv7141CNV Loss18451855
    dgv2489e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): FMR1

    Locus Specific Mutation Databases (LSDB): FMR1
    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing FMR1:
    Intellectual Disability
    SeqTarget long-range PCR primers for resequencing FMR1
    DNA2.0 Custom Variant and Variant Library Synthesis for FMR1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 309550   
    OMIM disorders: 300624  300623  
    UniProtKB/Swiss-Prot: FMR1_HUMAN, Q06787
  • Fragile X syndrome (FRAX) [MIM:300624]: Common genetic disease (has a prevalence of one in every 2000
    children) which is characterized by moderate to severe mental retardation, macroorchidism (enlargement of the
    testicles), large ears, prominent jaw, and high-pitched, jocular speech. The defect in most fragile X syndrome
    patients results from an amplification of a CGG repeat region which is directly in front of the coding region.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Fragile X tremor/ataxia syndrome (FXTAS) [MIM:300623]: In FXTAS, the expanded repeats range in size from
    55 to 200 repeats and are referred to as 'premutations'. Full repeat expansions with greater than 200 repeats
    results in fragile X mental retardation syndrome [MIM:300624]. Carriers of the premutation typically do not show
    the full fragile X syndrome phenotype, but comprise a subgroup that may have some physical features of fragile X
    syndrome or mild cognitive and emotional problems. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Premature ovarian failure 1 (POF1) [MIM:311360]: An ovarian disorder defined as the cessation of ovarian
    function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of
    elevated levels of serum gonadotropins and low estradiol. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 20/54 diseases for FMR1 (see all 54):    About MalaCards
    fragile x syndrome    fragile x-associated tremor/ataxia syndrome    fragile x-associated primary ovarian insufficiency    fmr1-related disorders
    xq27.3q28 duplication syndrome    tremor    premature ovarian failure    audiogenic seizures
    multiple system atrophy    essential tremor    myositis ossificans    developmental disabilities
    was-related disorders    friedreich ataxia    dysautonomia    mental retardation
    learning disability    prader-willi syndrome    attention deficit hyperactivity disorder    amenorrhea

    6 diseases from the University of Copenhagen DISEASES database for FMR1:
    Fragile X syndrome     Intellectual disability     Premature ovarian failure     Autistic disorder
    Neurodegenerative disease     Ovarian dysfunction

    FMR1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/49 Novoseek inferred disease relationships for FMR1 gene (see all 49)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fragile x syndrome 99 674 7726157 (5), 10331602 (5), 11814427 (4), 10870330 (4) (see all 99)
    mental retardation 95.4 686 15475576 (4), 12447812 (3), 19849940 (3), 17136426 (3) (see all 99)
    fraxa syndrome 86.7 4 12883656 (1), 8593539 (1), 18616611 (1)
    ovarian failure premature 84.1 29 19041959 (3), 16275254 (2), 19373114 (2), 11299521 (2) (see all 22)
    fraxe syndrome 80.6 2 17506108 (1), 14526173 (1)
    chromosome fragility 68.8 3 8499907 (2), 8844096 (1)
    autistic 62.3 33 11450815 (4), 16700053 (3), 14755444 (2), 15000256 (2) (see all 15)
    parkinsonism 58.3 20 19204162 (4), 15390127 (2), 18273822 (2), 19796183 (2) (see all 9)
    developmental delay 56.3 2 16275254 (1), 10424820 (1)
    cognitive deficit 55.3 12 19368811 (2), 19796132 (1), 10748416 (1), 19574928 (1) (see all 8)

    GeneTests: FMR1
    GeneReviews: FMR1
    Genetic Association Database (GAD): FMR1
    Human Genome Epidemiology (HuGE) Navigator: FMR1 (108 documents)

    Export disorders for FMR1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for FMR1 gene, integrated from 9 sources (see all 751):
    (articles sorted by number of sources associating them with FMR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. (PubMed id 16184602)1, 4, 9 Hessl D....Hagerman R.J. (2005)
    2. FXR1, an autosomal homolog of the fragile X mental retardation gene. (PubMed id 7781595)1, 2, 9 Siomi M.C....Dreyfuss G. (1995)
    3. Characterization of FMR1 proteins isolated from different tissues. (PubMed id 7633450)1, 2, 9 Verheij C.... Hoogeveen A.T. (1995)
    4. The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. (PubMed id 8401578)1, 2, 9 Devys D.... Mandel J.-L. (1993)
    5. The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein. (PubMed id 7688265)1, 2, 9 Siomi H.... Dreyfuss G. (1993)
    6. Screening for the presence of FMR1 premutation alleles in women with parkinsonism. (PubMed id 19204162)1, 4, 9 Cilia R....Tassone F. (2009)
    7. Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population. (PubMed id 11119302)1, 4, 9 Sharma D....Thelma B.K. (2001)
    8. FMR1 protein: conserved RNP family domains and selective RNA binding. (PubMed id 7692601)1, 2, 9 Ashley C.T. Jr.... Warren S.T. (1993)
    9. The C-terminus of fragile X mental retardation protein interacts with the multi-domain Ran-binding protein in the microtubule-organising centre. (PubMed id 15381419)1, 2, 9 Menon R.P.... Pastore A. (2004)
    10. 82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization. (PubMed id 12837692)1, 2, 9 Bardoni B.... Mandel J.-L. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2332 HGNC: 3775 AceView: FMR1 Ensembl:ENSG00000102081 euGenes: HUgn2332
    ECgene: FMR1 Kegg: 2332 H-InvDB: FMR1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FMR1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FMR1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FMR1 gene:
    Search GeneIP for patents involving FMR1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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