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FXR1 Gene

protein-coding   GIFtS: 63
GCID: GC03P180585

Fragile X Mental Retardation, Autosomal Homolog 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Fragile X Mental Retardation, Autosomal Homolog 11 2
hFXR1p2 3
FXR1P2
Fragile X Mental Retardation Syndrome-Related Protein 12

External Ids:    HGNC: 40231   Entrez Gene: 80872   Ensembl: ENSG000001144167   OMIM: 6008195   UniProtKB: P511143   

Export aliases for FXR1 gene to outside databases

Previous GC identifers: GC03P177391 GC03P181474 GC03P182032 GC03P181951 GC03P182113 GC03P178034


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FXR1 Gene:
The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins
FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes,
predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been
found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for FXR1 Gene:
FXR1 (fragile X mental retardation, autosomal homolog 1) is a protein-coding gene. Diseases associated with FXR1 include fragile x syndrome, and facioscapulohumeral muscular dystrophy. GO annotations related to this gene include RNA binding and G-quadruplex RNA binding. An important paralog of this gene is FMR1.

UniProtKB/Swiss-Prot: FXR1_HUMAN, P51114
Function: RNA-binding protein required for embryonic and postnatal development of muscle tissue. May regulate
intracellular transport and local translation of certain mRNAs (By similarity)

Gene Wiki entry for FXR1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FXR1 gene promoter:
         GR   RP58   SREBP-1c   USF2   SREBP-1b   Arnt   SREBP-1a   COMP1   GR-alpha   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFXR1 promoter sequence
   Search Chromatin IP Primers for FXR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FXR1


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

Entrez Gene cytogenetic band: 3q28   Ensembl cytogenetic band:  3q26.33   HGNC cytogenetic band: 3q28

FXR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FXR1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P180585:  view genomic region     (about GC identifiers)

Start:
180,585,929 bp from pter      End:
180,700,541 bp from pter
Size:
114,613 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: FXR1_HUMAN, P51114 (See protein sequence)
Recommended Name: Fragile X mental retardation syndrome-related protein 1  
Size: 621 amino acids; 69721 Da
Subunit: Interacts with FMR1 and FXR2. Interacts with TDRD3, and with CYFIP2 but not with CYFIP1
3 PDB 3D structures from and Proteopedia for FXR1:
2CPQ (3D)        3KUF (3D)        3O8V (3D)    
Secondary accessions: A8K9B8 Q7Z450 Q8N6R8
Alternative splicing: 3 isoforms:  P51114-1   P51114-2   P51114-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FXR1: NX_P51114

Explore proteomics data for FXR1 at MOPED

Post-translational modifications: 

  • Arg-445 is dimethylated, probably to asymmetric dimethylarginine1
  • Ubiquitination2 at Lys179, Lys207, Lys246, Lys310
  • Modification sites at PhosphoSitePlus

  • See FXR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001013456.1  NP_005078.2  NP_001013457.1  

    ENSEMBL proteins: 
     ENSP00000419793   ENSP00000417125   ENSP00000418724   ENSP00000350170   ENSP00000307633  
     ENSP00000419047   ENSP00000420643   ENSP00000420515   ENSP00000388828   ENSP00000419933  
     ENSP00000418097   ENSP00000417513   ENSP00000418027  

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    Cloud-Clone Corp. Proteins for FXR1

    FXR1 Antibody Products:

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    Cloud-Clone Corp. CLIAs for FXR1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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 P51114

    ProtoNet protein and cluster: P51114

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


    UniProtKB/Swiss-Prot: FXR1_HUMAN, P51114
    Domain: The tandem Tudor domains preferentially recognize trimethylated histone peptides
    Similarity: Belongs to the FMR1 family
    Similarity: Contains 2 Agenet-like domains
    Similarity: Contains 2 KH domains


    FXR1 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FXR1_HUMAN, P51114
    Function: RNA-binding protein required for embryonic and postnatal development of muscle tissue. May regulate
    intracellular transport and local translation of certain mRNAs (By similarity)

         Genatlas biochemistry entry for FXR1:
    cytoplasmic RNA binding protein (70kDa) homologous to FMR1 and FXR2 (see symbols),homodimerizing and
    heterodimerizing with them,expressed in fetal and adult brain testis,putative target for the autoimmune
    response,with several alternatively spliced isoforms

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002151G-quadruplex RNA binding IEA--
    GO:0003723RNA binding TAS7781595
    GO:0003730mRNA 3'-UTR binding IEA--
    GO:0005515protein binding ----
    GO:0044822poly(A) RNA binding IDA--
         
    FXR1 for ontologies           About GeneDecksing


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Fxr1):
     behavior/neurological  cardiovascular system  endocrine/exocrine gland  growth/size/body  hematopoietic system 
     immune system  mortality/aging  muscle  no phenotypic analysis  reproductive system 
     respiratory system 

    FXR1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Fxr1tm1.2Dln for FXR1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FXR1
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    miRNA
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    miRTarBase miRNAs that target FXR1:
    hsa-mir-125b-5p (MIRT045986), hsa-mir-149-5p (MIRT045421), hsa-mir-30a-5p (MIRT028542), hsa-mir-34a-5p (MIRT025398), hsa-mir-124-3p (MIRT022502)

    Block miRNA regulation of human, mouse, rat FXR1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FXR1 (see all 149):
    hsa-miR-411* hsa-miR-140-5p hsa-miR-100* hsa-miR-26a-2* hsa-miR-199a-3p hsa-miR-1224-3p hsa-miR-106a hsa-miR-1260b
    SwitchGear 3'UTR luciferase reporter plasmidFXR1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FXR1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 3): FXR1 (NM_005087)
    Sino Biological Human cDNA Clone for FXR1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FXR1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FXR1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FXR1_HUMAN, P51114: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol3
    golgi apparatus1
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005730nucleolus TAS10888599
    GO:0005737cytoplasm IDA--
    GO:0005844polysome IEA--
    GO:0043034costamere IEA--

    FXR1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for FXR1 About    
    See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for FXR1
        Translational Control
    Neuroscience



    1 Kegg Pathway  (Kegg details for FXR1):
        RNA transport


    FXR1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FXR1
    Interactions:

        GeneGlobe Interaction Network for FXR1

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

    Selected Interacting proteins for FXR1 (P511142, 3 ENSP000003501704) via UniProtKB, MINT, STRING, and/or I2D (see all 122)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C7orf55-LUC7L2Q9Y3832, 3MINT-64929 I2D: score=5 
    LUC7L2Q9Y3832, 3MINT-64929 I2D: score=5 
    RPL11P629132, 3, ENSP000003636764MINT-6489539 I2D: score=2 STRING: ENSP00000363676
    HABP4Q5JVS02, 3, ENSP000003643984MINT-8194614 I2D: score=1 STRING: ENSP00000364398
    C14orf1Q9UKR52, 3MINT-64928 I2D: score=5 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process TAS9642279
    GO:0007517muscle organ development IEA--
    GO:0017148negative regulation of translation IEA--
    GO:0030154cell differentiation IEA--

    FXR1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FXR1



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for FXR1 gene (3 alternative transcripts): 
    NM_001013438.2  NM_005087.3  NM_001013439.2  

    Unigene Cluster for FXR1:

    Fragile X mental retardation, autosomal homolog 1
    Hs.478407  [show with all ESTs]
    Unigene Representative Sequence: NM_001013439
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000469882 ENST00000484790 ENST00000465551(uc011bqi.2) ENST00000357559(uc003fkq.3 uc003fkr.3 uc011bqj.2 uc003fks.3 uc011bqk.2 uc011bql.2)
    ENST00000305586(uc003fkp.3) ENST00000475315 ENST00000491674 ENST00000479176
    ENST00000491062 ENST00000468861 ENST00000445140 ENST00000472339 ENST00000484958
    ENST00000480918 ENST00000484042 ENST00000461801 ENST00000473375 ENST00000461044

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate FXR1 (see all 149):
    hsa-miR-411* hsa-miR-140-5p hsa-miR-100* hsa-miR-26a-2* hsa-miR-199a-3p hsa-miR-1224-3p hsa-miR-106a hsa-miR-1260b
    SwitchGear 3'UTR luciferase reporter plasmidFXR1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FXR1
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): FXR1 (NM_005087)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FXR1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for FXR1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FXR1
      QuantiTect SYBR Green Assays in human, mouse, rat FXR1
      QuantiFast Probe-based Assays in human, mouse, rat FXR1

    Additional mRNA sequence: 

    AF075028.1 AK225334.1 AK292633.1 AK294603.1 AK297254.1 AK297331.1 AK302197.1 AY341428.1 
    BC010382.1 BC028983.1 U25165.1 X90874.1 

    Selected DOTS entries (see all 30):

    DT.101956646  DT.120924032  DT.91654486  DT.100692495  DT.456405  DT.110894  DT.100826538  DT.100029873 
    DT.110219  DT.414018  DT.100826544  DT.91646764  DT.100826537  DT.100826534  DT.92445716  DT.95351112 
    DT.100826542  DT.120924093  DT.40128322  DT.120923965  DT.120924000  DT.120924013  DT.120924081  DT.40128116 

    Selected AceView cDNA sequences (see all 452):

    AW515741 AA225850 AW271355 BP376745 BM710395 BM980262 BU167769 BF223903 
    CA429563 AY341428 BE858106 BU069334 BU193413 CR596956 AU131946 AA443860 
    BU625102 CB148665 AA405585 N29233 AI879339 AW196602 BU192279 BX100478 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for FXR1 (see all 13)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ^ 17a ·
    SP1:                                                                                      -                                                                     
    SP2:                                                                                      -                                                                     
    SP3:                                                                                      -                                                                     
    SP4:                                                                                      -                                               -                     
    SP5:                                                                                                                                      -                     

    ExUns: 17b ^ 18a · 18b
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for FXR1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FXR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAGTCTTCA
    FXR1 Expression
    About this image


    FXR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Testis (Reproductive System)
             XY Germ Cells Testis Cord
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Gonad
             XY Germ Cells Testis Cord
     
     Thymus (Hematopoietic System)
     
     Kidney (Urinary System)
    FXR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FXR1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.478407

    UniProtKB/Swiss-Prot: FXR1_HUMAN, P51114
    Tissue specificity: Expressed in all tissues examined including heart, brain, kidney and testis

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FXR1

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for FXR1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fxr11 , 5 fragile X mental retardation gene 1, autosomal homolog1, 5 94.95(n)1
    98.07(a)1
      3 (16.41 cM)5
    143591  NM_001113188.11  NP_001106659.11 
     340200795 
    chicken
    (Gallus gallus)
    Aves FXR11 fragile X mental retardation, autosomal homolog 1 82.93(n)
    92.43(a)
      424968  NM_001012601.1  NP_001012619.1 
    lizard
    (Anolis carolinensis)
    Reptilia FXR16
    fragile X mental retardation, autosomal homolog 1
    83(a)
    1 ↔ 1
    3(1479847-1498638)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC043638.12   -- 82.34(n)    BC043638.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufd18c102 wufd18c10 74.67(n)   327220  BC055557.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Fmr13 negative regulation of translation mRNA
    binding
    48(a)     --


    ENSEMBL Gene Tree for FXR1 (if available)
    TreeFam Gene Tree for FXR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FXR1 gene
    FMR12  FXR22  
    2 SIMAP similar genes for FXR1 using alignment to 12 protein entries:     FXR1_HUMAN (see all proteins):
    FXR2    FMR1

    FXR1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for FXR1
    PGOHUM00000239421


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FXR1 (see all 1331)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0360504
    A breast cancer sample4--see VAR_0360502 A T mis40--------
    rs1437502381,2
    --180628311(+) AAGAAA/GAAAGA 3 -- us2k10--------
    rs1441711071,2
    C--180628344(+) TATTCC/TGCGAT 3 -- us2k10--------
    rs1486858351,2
    --180628548(+) CTACTG/TAATTG 3 -- us2k10--------
    rs130606141,2
    C,H--180628631(+) GGATCA/CCAATG 3 -- us2k1 tfbs33Minor allele frequency- C:0.00EA NS 298
    rs1421867011,2
    --180628694(+) ACTCAC/TTGATG 3 -- us2k10--------
    rs3709973521,2
    C--180628847(+) TGTCT-/AAAAAA 3 -- us2k10--------
    rs716299271,2
    C--180628863(+) AAAAA-/A/AA  
            
    TAGGC
    3 -- us2k11NA 2
    rs1820656461,2
    C--180628888(+) TAGGCC/TGGGCA 3 -- us2k10--------
    rs1865990441,2
    --180628978(+) ACCCCA/GTCTCT 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for FXR1 (180585929 - 180700541 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for FXR1: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FXR1
    DNA2.0 Custom Variant and Variant Library Synthesis for FXR1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600819    OMIM disorders: --

    14 diseases for FXR1:    
    About MalaCards
    fragile x syndrome    facioscapulohumeral muscular dystrophy    mental retardation    intellectual disability
    muscular dystrophy    bipolar disorder    breast and colorectal cancer    squamous cell carcinoma
    schizophrenia    hiv-1    colorectal cancer    multiple myeloma
    myeloma    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for FXR1:
    Fragile X syndrome     Intellectual disability

    FXR1 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for FXR1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fragile x syndrome 81.2 2 10446811 (1), 18628314 (1)
    mental retardation 69.1 5 7489725 (2), 18628314 (1), 7781595 (1)

    Genetic Association Database (GAD): FXR1

    Export disorders for FXR1 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)
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    PubMed articles for FXR1 gene, integrated from 10 sources (see all 72):
    (articles sorted by number of sources associating them with FXR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. FXR1, an autosomal homolog of the fragile X mental retardation gene. (PubMed id 7781595)1, 2, 3, 9 Siomi M.C....Dreyfuss G. (EMBO J. 1995)
    2. The fragile-X-related gene FXR1 is a human autoantigen processed during apoptosis. (PubMed id 9642279)1, 3, 9 BolA-var J....Valdivia M.M. (J. Biol. Chem. 1998)
    3. Structural studies of the tandem Tudor domains of fragile X mental retardation related proteins FXR1 and FXR2. (PubMed id 21072162)1, 2 Adams-Cioaba M.A.... Min J. (PLoS ONE 2010)
    4. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. (PubMed id 19571811)1, 4  ....Sklar P. (Nature 2009)
    5. Tdrd3 is a novel stress granule-associated protein interacting with the Fragile-X syndrome protein FMRP. (PubMed id 18664458)1, 2 Linder B.... Fischer U. (Hum. Mol. Genet. 2008)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Highly conserved 3' UTR and expression pattern of FXR1 points to a divergent gene regulation of FXR1 and FMR1. (PubMed id 8634689)1, 9 Coy J.F.... Poustka A. (Hum. Mol. Genet. 1995)
    9. Comparative genomic sequence analysis of the FXR gene family: FMR1, FXR1, and FXR2. (PubMed id 11735223)1, 9 Kirkpatrick L.L....Nelson D.L. (Genomics 2001)
    10. Alteration of expression of muscle specific isoforms of the fragile X related protein 1 (FXR1P) in facioscapulohumeral muscular dystrophy patients. (PubMed id 18628314)1, 9 Davidovic L....Bardoni B. (J. Med. Genet. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 8087 HGNC: 4023 AceView: FXR1 Ensembl:ENSG00000114416 euGenes: HUgn8087
    ECgene: FXR1 Kegg: 8087 H-InvDB: FXR1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FXR1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FXR1 gene:
    Search GeneIP for patents involving FXR1

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



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