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

FRG1 Gene

protein-coding   GIFtS: 55
GCID: GC04P190861

FSHD region gene 1
 Explore 4 diseases affiliated with
FRG1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for FRG1    

Aliases
for FRG1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
FSHD Region Gene 11 2
FSG11 2 5
FRG1A1 2
FSHD Region Gene 1 Protein2 3
Facioscapulohumeral Muscular Dystrophy Region Gene-12
Protein FRG12

External Ids:    HGNC: 39541   Entrez Gene: 24832   Ensembl: ENSG000001095367   OMIM: 6012785   UniProtKB: Q143313   

Export aliases for FRG1 gene to outside databases

Previous GC identifers: GC04P191891 GC04P191510 GC04P191446 GC04P191557 GC04P191237 GC04P191098 GC04P186602


Summaries
for FRG1 gene

(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 FRG1:
This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in
facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple
human chromosomes but DNA sequence analysis did not reveal any homology to known genes. In vivo studies demonstrate
the encoded protein is localized to the nucleolus. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: FRG1_HUMAN, Q14331
Function: May have a role in processing of pre-rRNA or in the assembly of rRNA into ribosomal subunits. May be involved
in pre-mRNA splicing

Gene Wiki entry for FRG1


Genomic Views
for FRG1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_016354.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FRG1 gene promoter:
         Max1   GCNF-1   GCNF   GCNF-2   MRF-2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FRG1 promoter sequence
   Search SABiosciences Chromatin IP Primers for FRG1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FRG1


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

Entrez Gene cytogenetic band: 4q35   Ensembl cytogenetic band:  4q35.2   HGNC cytogenetic band: 4q35

FRG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FRG1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P190861:  view genomic region     (about GC identifiers)

Start:
 190,861,943 bp from pter      End:
 190,884,359 bp from pter
Size:
 22,417 bases      Orientation:
 plus strand

Proteins
for FRG1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: FRG1_HUMAN, Q14331 (See protein sequence)
Recommended Name: Protein FRG1  
Size: 258 amino acids; 29172 Da
Subunit: Identified in the spliceosome C complex
Subcellular location: Nucleus, Cajal body. Nucleus speckle. Nucleus, nucleolus. Note=First expressed in Cajal bodies
and nuclear speckles. As speckle expression diminishes, expression is seen in dense structures (dense fibrillar
component and the granular component) of the nucleolus
Secondary accessions: A8K775

Explore the universe of human proteins at neXtProt for FRG1: NX_Q14331

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q14331

    • FRG1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004468.1  
    ENSEMBL proteins: 
     ENSP00000226798   ENSP00000435067   ENSP00000436535   ENSP00000435943   ENSP00000462603  

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    Uscn Proteins for FRG1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IEA--
    GO:0015030Cajal body IEA--
    GO:0016607nuclear speck IEA--
    GO:0071013catalytic step 2 spliceosome IDA11991638


    FRG1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for FRG1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    FRG1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR010414 FRG1
     IPR008999 Actin_cross-linking

    Graphical View of Domain Structure for InterPro Entry Q14331

    ProtoNet protein and cluster: Q14331

    1 Blocks protein family: IPB002345 Lipocalin signature

    UniProtKB/Swiss-Prot: FRG1_HUMAN, Q14331
    Similarity: Belongs to the FRG1 family


    Function
    for FRG1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: FRG1_HUMAN, Q14331
    Function: May have a role in processing of pre-rRNA or in the assembly of rRNA into ribosomal subunits. May be involved
    in pre-mRNA splicing

         Genatlas biochemistry entry for FRG1:
    FSHMD1A (FSHD) region gene 1,expressed in placenta,lymphocytes,brain,muscle,putative transport protein,with multiple
    copies resulting from ancestral duplication,dispersed throughout the genome

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate FRG1:
    hsa-miR-3607-3p
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    Inhib. RNA
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    Gene Editing
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    Clone
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    Search LifeMap BioReagents cell lines for FRG1

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    Pathways & Interactions
    for FRG1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FRG1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/7 Interacting proteins for FRG1 (Q143312, 3 ENSP000002267984) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CWC22Q9HCG82, ENSP000003870064MINT-8332009 MINT-8337695 STRING: ENSP00000387006
    SART3Q150203, ENSP000002282844I2D: score=2 STRING: ENSP00000228284
    TADA2BQ86TJ23I2D: score=5 
    POU5F1Q018603I2D: score=1 
    RBPMSQ930623I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000398mRNA splicing, via spliceosome IC11991638
    GO:0006364rRNA processing IEA--


    FRG1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for FRG1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FRG1
    Search CenterWatch for drugs/clinical trials and news about FRG1 

    Transcripts
    for FRG1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for FRG1 gene: 
    NM_004477.2  

    Unigene Cluster for FRG1:

    FSHD region gene 1
    Hs.203772  [show with all ESTs]
    Unigene Representative Sequence: BC053997
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000226798(uc003izs.3) ENST00000524583 ENST00000533157 ENST00000531991
    ENST00000514482 ENST00000507103 ENST00000505327

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    hsa-miR-3607-3p
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    Inhib. RNA
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    Additional cDNA sequence: 

    AK291890.1 BC053997.1 L76159.1 

    8 DOTS entries:

    DT.455547  DT.100037104  DT.80100373  DT.100037102  DT.100743505  DT.102845536  DT.120805807  DT.95333232 

    24/157 AceView cDNA sequences (see all 157):

    BM969973 BI754635 BU194055 AA381469 BM718034 AA749391 BM972483 AI217796 
    BF593466 AW328678 AW303588 BM680487 BM830673 BM839747 BV201434 BU664298 
    BV208004 AA461222 BU852211 BG426031 CF126168 BG504528 L76159 AA173728 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for FRG1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9
    SP1:                                      -           -         
    SP2:                                -                           
    SP3:              -     -                 -                     


    ECgene alternative splicing isoforms for FRG1

    Expression
    for FRG1 gene

    (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

    FRG1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGACGCTTCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    FRG1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbLimb BudLimb Bud Mesenchyme CellsMesoderm
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See FRG1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FRG1

    SOURCE GeneReport for Unigene cluster: Hs.203772

    UniProtKB/Swiss-Prot: FRG1_HUMAN, Q14331
    Tissue specificity: Expressed in adult muscle, lymphocytes, fetal brain, muscle, and placenta

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    In Situ
    Assay Products:     
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    Orthologs
    for FRG1 gene

    (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 FRG1 gene from 6/24 species (see all 24)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves FRG11 FSHD region gene 1 80.47(n)
    86.33(a)    		   422726  XM_420681.2  XP_420681.1 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 82(a)
    		 1 → many
    		 5(109409454-109421866)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.82032 Xenopus laevis transcribed sequence with moderate similarity to protein spQ14331 (H.sapiens) FRG1_HUMAN FRG1 protein (FSHD region gene 1 protein) less 78.37(n)    48053800 
    zebrafish
    (Danio rerio)    		 Actinopterygii BM570995.12   -- 76.09(n)    BM570995.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG64801 , 3 CG64801 51(a)3
    53.94(n)1
    50.39(a)1    		   77B13
    402281  NM_140945.21  NP_649202.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea frg-11 Protein FRG-1 51.6(n)
    46.4(a)    		   176719  NM_067295.3  NP_499696.2 


    ENSEMBL Gene Tree for FRG1 (if available)
    TreeFam Gene Tree for FRG1 (if available) 

    Paralogs
    for FRG1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FRG1 gene
    LOC1009967792  FRG1B2  
    18/62 SIMAP similar genes for FRG1 using alignment to 5 protein entries:     FRG1_HUMAN (see all proteins) (see all similar genes):
    LOC283788    FRG1B    CALCOCO2    KIAA0101    EIF3G    RHBG
    C14orf105    IK    KIAA1651    ZNF559    ADCK1    C12orf76
    HC6    LSM12    SMYD4    CSPP1    HEXDC    MRPL45

    FRG1 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for FRG1
    PGOHUM00000236176 PGOHUM00000260520 PGOHUM00000260522


    Genomic Variants
    for FRG1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for FRG1
         4 CNVs: 8469 51355 4426 68908
    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for FRG1 gene

    (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.)
    About This Section
    FRG1 for disorders           About GeneDecksing

    OMIM gene information: 601278    OMIM disorders: --

    4 diseases for FRG1:    About MalaCards
    facioscapulohumeral muscular dystrophy    muscular dystrophy    suppurative lymphadenitis    lymphadenitis

    2 diseases from the University of Copenhagen DISEASES database for FRG1:
    Facioscapulohumeral muscular dystrophy     Suppurative lymphadenitis

    2 Novoseek disease relationships for FRG1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    muscular dystrophy facioscapulohumeral 95.4 8 20215405 (2), 19097195 (1), 16341202 (1), 19607661 (1) (see all 5)
    muscular dystrophies 72.2 4 9714712 (1), 19097195 (1), 9166581 (1), 16341202 (1)


    Export disorders for FRG1 gene to outside databases

    Publications
    for FRG1 gene

    (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 FRG1 gene, integrated from 9 sources (see all 36):
    (articles sorted by number of sources associating them with FRG1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35. (PubMed id 8733123)1, 2, 3, 9 van Deutekom J.C.T.... Frants R.R. (1996)
    2. FRG1P is localised in the nucleolus, Cajal bodies, and speckles. (PubMed id 15060122)1, 2 van Koningsbruggen S.... van der Maarel S.M. (2004)
    3. 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. (2004)
    4. Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. (PubMed id 11991638)1, 2 Jurica M.S.... Moore M.J. (2002)
    5. The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements. (PubMed id 10512680)1, 2 van Geel M....de Jong P.J. (1999)
    6. Remodeling of the chromatin structure of the faciosca pulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related ge ne 1 (FRG1) expression during human myogenic differentiation. (PubMed id 19607661)1, 9 Bodega B....Ginelli E. (2009)
    7. Muscular dystrophy candidate gene FRG1 is critical fo r muscle development. (PubMed id 19097195)1, 9 Hanel M.L....Jones P.L. (2009)
    8. Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. (PubMed id 16341202)1, 9 Gabellini D....Tupler R. (2006)
    9. A functional role for 4qA/B in the structural rearrangement of the 4q35 region and in the regulation of FRG1 and ANT1 in facioscapulohumeral dystrophy. (PubMed id 18852887)1, 9 Pirozhkova I....Vassetzky Y. (2008)
    10. Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD). (PubMed id 9132141)1, 9 Fisher J. and Upadhyaya M. (1997)

    External Searches for FRG1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing FRG1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2483 HGNC: 3954 AceView: FRG1 Ensembl:ENSG00000109536 euGenes: HUgn2483
    ECgene: FRG1 H-InvDB: FRG1

    Other Databases showing FRG1 gene

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    Specialized Databases showing FRG1 gene

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    PharmGKB entry for FRG1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
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