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

    Gene ID: 2483, updated on 7-Jan-2024

    Summary

    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; AllianceGenome:HGNC:3954
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 24.3), fat (RPKM 19.1) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See FRG1 in Genome Data Viewer
    Location:
    4q35.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (189940872..189963192)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (193305857..193328177)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (190862027..190884347)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene FRG1 divergent transcript Neighboring gene uncharacterized LOC105377619 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:190749322-190749822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:190749823-190750323 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:190767193-190767906 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:190767907-190768620 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:190802184-190803383 Neighboring gene long intergenic non-protein coding RNA 1596 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:190862333-190862832 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:190896381-190896551 Neighboring gene MLLT10 pseudogene 2 Neighboring gene tubulin beta 7 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in mRNA splicing, via spliceosome IC
    Inferred by Curator
    more info
    PubMed 
    involved_in muscle organ development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in rRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Cajal body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in Z disc IEA
    Inferred from Electronic Annotation
    more info
     
    part_of catalytic step 2 spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in striated muscle dense body IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    protein FRG1
    Names
    FSHD region gene 1 protein
    facioscapulohumeral muscular dystrophy region gene-1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5054..27374
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004477.3NP_004468.1  protein FRG1

      See identical proteins and their annotated locations for NP_004468.1

      Status: REVIEWED

      Source sequence(s)
      BC053997
      Consensus CDS
      CCDS34121.1
      UniProtKB/Swiss-Prot
      A8K775, Q14331
      Related
      ENSP00000226798.4, ENST00000226798.9
      Conserved Domains (1) summary
      pfam06229
      Location:67256
      FRG1; FRG1-like domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      189940872..189963192
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017007958.2XP_016863447.1  protein FRG1 isoform X1

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_015495300.1 Reference GRCh38.p14 PATCHES

      Range
      33802..56122
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331998.1XP_054187973.1  protein FRG1 isoform X1

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_015495301.1 Reference GRCh38.p14 PATCHES

      Range
      33802..56122
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331999.1XP_054187974.1  protein FRG1 isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187650.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      278402..300723
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329947.1XP_054185922.1  protein FRG1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      193305857..193328177
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349506.1XP_054205481.1  protein FRG1 isoform X1