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

Gene ID: 2483, updated on 13-May-2022

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
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Genomic context

See FRG1 in Genome Data Viewer
Location:
4q35.2
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (189940872..189963192)
110 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 long intergenic non-protein coding RNA 1596 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

Homology

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
PubMed 
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
PubMed 
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
PubMed 
is_active_in striated muscle dense body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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
    Q14331
    Related
    ENSP00000226798.4, ENST00000226798.9
    Conserved Domains (1) summary
    pfam06229
    Location:67256
    FRG1; FRG1-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_015495301.1 Reference GRCh38.p14 PATCHES

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

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)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

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