FRG1 - FSHD region gene 1 Gene

中文名称：FSHD 区域基因 1

种属: Homo sapiens

同用名: FSG1; FRG1A

基因 ID: 2483 | 基因类型: protein coding

关于 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.

功能概要

该基因映射到染色体 4q35 上重复单元着丝粒 100 kb 的位置，该位置在面肩肱型肌营养不良症 (FSHD) 中被删除。它在进化上是保守的，并且在多个人类染色体上具有相关序列，但 DNA 序列分析未显示与已知基因有任何同源性。体内研究表明编码的蛋白质定位于核仁。[RefSeq 提供，2008 年 7 月]

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 基因产物(1)

mRNA	Protein	Name
NM_004477.3	NP_004468.1	protein FRG1

基因本体论

分子功能
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	22365833	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of catalytic step 2 spliceosome	IDA IDA: 通过直接分析推断	11991638	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

FRG1 蛋白结构

FRG1

0
100
200
258 a.a.

蛋白主名

其他名称

protein FRG1

FSHD region gene 1 protein

FRG1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
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

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS05095	FRG1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	FRG1	RGD	RGD:1585495
Mus musculus	FRG1	MGD	MGI:893597

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