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

Gene ID: 2483, updated on 8-May-2016
Official Symbol
FRG1provided by HGNC
Official Full Name
FSHD region gene 1provided by HGNC
Primary source
HGNC:HGNC:3954
See related
Ensembl:ENSG00000109536 HPRD:03176; 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
Exon count:
10
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 LOC105377618 Neighboring gene uncharacterized LOC728339 Neighboring gene long intergenic non-protein coding RNA 1596 Neighboring gene tubulin beta 7 pseudogene Neighboring gene double homeobox 4 like 9

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
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
actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
 
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
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 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p2 Primary Assembly

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

RNA

  1. XR_938715.1 RNA Sequence

Reference GRCh38.p2 ALT_REF_LOCI_2

Genomic

  1. NT_187650.1 Reference GRCh38.p2 ALT_REF_LOCI_2

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

RNA

  1. XR_952267.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 Alternate CHM1_1.1

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