2. Gene
  3. FRG1 - FSHD region gene 1 Gene

FRG1 - FSHD region gene 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as FSG1; FRG1A

Gene ID: 2483 | Gene type: protein coding

About FRG1

Cytogenetic location: 4q35.2 Genomic coordinates (GRCh38): 4:189,940,872-189,963,192 (from NCBI)

This gene has 7 transcripts (splice variants), 1 gene allele, 218 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 24.3), fat (RPKM 19.1) and 25 other tissues.

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]

FRG1 Products(1)

mRNA Protein Name
NM_004477.3 NP_004468.1 protein FRG1
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
22365833 GOA
Cellular Component GO Annotation Evidence Reference Source
part of catalytic step 2 spliceosome IDA
IDA: Inferred from direct assay
11991638 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FRG1 Protein Structure

FRG1

FRG1: FRG1-like domain (68 - 256)

  • 0
  • 100
  • 200
  • 258 a.a.
Protein Preferred Names Protein Names

protein FRG1

FSHD region gene 1 protein

FRG1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra FRG1 Q14331 KRT40 Homo sapiens Q6A162
Y2H Prey Pooling
25416956
Intra FRG1 Q14331 EXOSC8 Homo sapiens Q96B26
Y2H Prey Pooling
25416956
Intra FRG1 Q14331 CWC22 Homo sapiens Q9HCG8
Anti Tag CoIP
22365833
Intra FRG1 Q14331 LZTS2 Homo sapiens Q9BRK4
Y2H Array
25416956
Intra FRG1 Q14331 LZTS2 Homo sapiens Q9BRK4
Validated Y2H
25416956
Intra FRG1 Q14331 GNMT Homo sapiens Q14749
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Facioscapulohumeral Muscular Dystrophy 1

Facioscapulohumeral Muscular Dystrophy

Fshd

Landouzy-Dejerine Muscular Dystrophy

Muscular Dystrophy, Facioscapulohumeral

FSHD1

Fshd1a

Muscular Dystrophy, Facioscapulohumeral, Type 1a

Facioscapulohumeral Muscular Dystrophy Type 1a

Fsh Muscular Dystrophy

Facioscapulohumeral Muscular Dystrophy 1a

Facioscapulohumeral Atrophy

Facioscapulohumeral Myopathy

Muscular Dystrophy, Facioscapulohumeral, Type 1

Facioscapulohumeral Muscular Dystrophy Type 1

Landouzy Dejerine Muscular Dystrophy

Muscular Dystrophy, Landouzy-Dejerine

Fshmd1a

Facio-Scapulo-Humeral Dystrophy

Facioscapulohumeral Type Progressive Muscular Dystrophy

Facioscapuloperoneal Muscular Dystrophy

Facioscapulohumeral Dystrophy

Fsh Dystrophy

Landouzy-Dejerine Dystrophy

Landouzy-Dejerine Myopathy

Fmd

Facioscapulohumeral Muscular Dystrophy-1a

Muscular Dystrophy Facioscapulohumeral

Dystrophy, Muscular, Facioscapulohumeral

Dystrophy, Muscular, Facioscapulohumeral, Type 1

Landouzy-Dejerine Disease

Landouzy-Déjerine Atrophy

Facioscapulohumeral Muscle Dystrophy

Fmd - [Facioscapulohumeral Muscular Dystrophy]

Fsh - [Facioscapulohumeral Muscular Dystrophy]

Fshd - [Facioscapulohumeral Muscular Dystrophy]

Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy

Landouzy-Déjérine Muscular Dystrophy
Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy
Facioscapulohumeral Muscular Dystrophy 2, Digenic

Facioscapulohumeral Muscular Dystrophy 2

FSHD2

Fshd1b

Facioscapulohumeral Muscular Dystrophy 1b

Fshd2, Digenic

Muscular Dystrophy, Facioscapulohumeral, Type 2

Muscular Dystrophy, Facioscapulohumeral, Type 1b

Fascioscapulohumeral Muscular Dystrophy 2, Digenic

Facioscapulohumeral Muscular Dystrophy Type 2

Digenic Facioscapulohumeral Muscular Dystrophy

Digenic Fshd2

Facioscapulohumeral Muscular Dystrophy Type 1b

Dystrophy, Muscular, Facioscapulohumeral, Type 2
Digenic Disease
Coats Disease

Exudative Retinopathy

Retinal Telangiectasis

Coats' Disease

Leber Miliary Aneurysm

Coats' Syndrome

Congenital Retinal Telangiectasia
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS05095 FRG1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus FRG1 RGD RGD:1585495
Mus musculus FRG1 MGD MGI:893597