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    FRG1 FSHD region gene 1 [ Homo sapiens (human) ]

    Gene ID: 2483, updated on 12-Mar-2017
    Official Symbol
    FRG1provided by HGNC
    Official Full Name
    FSHD region gene 1provided by HGNC
    Primary source
    HGNC:HGNC:3954
    See related
    Ensembl:ENSG00000109536 MIM:601278; Vega:OTTHUMG00000160202
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FSG1; FRG1A
    Summary
    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]
    Orthologs
    Location:
    4q35.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (189940819..189963204)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (190861974..190884360)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377619 Neighboring gene uncharacterized LOC728339 Neighboring gene long intergenic non-protein coding RNA 1596 Neighboring gene myeloid/lymphoid or mixed-lineage leukemia; translocated to, 10 pseudogene 2 Neighboring gene tubulin beta 7 pseudogene

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Facioscapulohumeral muscular dystrophy Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of chronic periodontitis in a general German population.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag HIV-1 Gag interacts with FRG1 as demonstrated by proximity dependent biotinylation proteomics PubMed
    Tat tat Expression of HIV-1 Tat upregulates the abundance of FSHD region gene 1 (FRG1) in the nucleoli of Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    mRNA splicing, via spliceosome IC
    Inferred by Curator
    more info
    PubMed 
    muscle organ development IEA
    Inferred from Electronic Annotation
    more info
     
    rRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Cajal body IEA
    Inferred from Electronic Annotation
    more info
     
    Z disc IEA
    Inferred from Electronic Annotation
    more info
     
    catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    striated muscle dense body IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    protein FRG1
    Names
    FSHD region gene 1 protein
    facioscapulohumeral muscular dystrophy region gene-1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008142.1 RefSeqGene

      Range
      5001..27386
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004477.2NP_004468.1  protein FRG1

      See identical proteins and their annotated locations for NP_004468.1

      Status: REVIEWED

      Source sequence(s)
      AA749391, BC053997, BG426031
      Consensus CDS
      CCDS34121.1
      UniProtKB/Swiss-Prot
      Q14331
      Related
      ENSP00000226798, OTTHUMP00000217759, ENST00000226798, OTTHUMT00000359622
      Conserved Domains (1) summary
      pfam06229
      Location:67256
      FRG1; FRG1-like domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      189940819..189963204
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017007958.1XP_016863447.1  protein FRG1 isoform X1

    Reference GRCh38.p7 PATCHES

    Genomic

    1. NW_015495300.1 Reference GRCh38.p7 PATCHES

      Range
      33749..56134
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 PATCHES

    Genomic

    1. NW_015495301.1 Reference GRCh38.p7 PATCHES

      Range
      33749..56134
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_2

    Genomic

    1. NT_187650.1 Reference GRCh38.p7 ALT_REF_LOCI_2

      Range
      278349..300735
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      190846305..190868690
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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