FRG1 - FSHD region gene 1 Gene

Also Known as FSG1; FRG1A

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2483

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 References Source
enables protein binding IPI
IPI: Inferred from physical interaction
22365833 GOA
Cellular Component GO Annotation Evidence References 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 References
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

FRG1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P86880 FRG1 Antibody (YA6573) WB, ICC/IF Human

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

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS01598 Brd2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS05095 FRG1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

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