2. Gene
  3. FXR1 - FMR1 autosomal homolog 1 Gene

FXR1 - FMR1 autosomal homolog 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：FMR1 常染色体同系物 1

种属: Homo sapiens

同用名: FXR1P; MYOPMIL; MYORIBF

基因 ID: 8087 | 基因类型: protein coding

关于 FXR1

Cytogenetic location: 3q26.33 Genomic coordinates (GRCh38): 3:180,912,670-180,982,753 (from NCBI)

This gene has 24 transcripts (splice variants), 220 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 27.2), ovary (RPKM 11.8) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种 RNA 结合蛋白，可与功能相似的蛋白质 FMR1 和 FXR2 相互作用。这些蛋白质在细胞核和细胞质之间穿梭，并与多聚核糖体结合，主要与 60S 核糖体亚基结合。已发现该基因的三个转录变体编码不同的亚型。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

FXR1 基因产物(4)

mRNA Protein Name
NM_001013438.3 NP_001013456.1 RNA-binding protein FXR1 isoform b
NM_001013439.3 NP_001013457.1 RNA-binding protein FXR1 isoform c
NM_001363882.1 NP_001350811.1 RNA-binding protein FXR1 isoform d
NM_005087.4 NP_005078.2 RNA-binding protein FXR1 isoform a

FXR1 蛋白结构

Agenet

Agenet: Agenet domain (59 - 118)

KH_1

KH_1: KH domain (221 - 276)

KH_1

KH_1: KH domain (286 - 344)

FXMRP1_C_core

FXMRP1_C_core: Fragile X-related 1 protein core C terminal (361 - 379)

FXMRP1_C_core

FXMRP1_C_core: Fragile X-related 1 protein core C terminal (379 - 486)

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  • 621 a.a.
蛋白主名 其他名称

RNA-binding protein FXR1

关联疾病

疾病名称 别名
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures

MYORIBF
Myopathy, Congenital Proximal, With Minicore Lesions

MYOPMIL
Fragile X Syndrome

FXS

Martin-Bell Syndrome

Fraxa Syndrome

Marker X Syndrome

X-Linked Mental Retardation And Macroorchidism

Fragile X Mental Retardation Syndrome

Fra Syndrome

Mental Retardation, X-Linked, Associated With Marxq28

X-Linked Intellectual Disability And Macroorchidism

Frax Syndrome

Symptomatic Form Of Fragile X Syndrome In Female Carriers

Fragile-X Syndrome

Fraxe Syndrome
Cervical Non-Keratinizing Squamous Cell Carcinoma
Cervical Keratinizing Squamous Cell Carcinoma
Mixed Cell Uveal Melanoma

Intraocular Mixed Cell Type Melanoma

Mixed Cell Type Uveal Melanoma
Myopathy

Muscular Diseases

Myopathies
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
Fragile X-Associated Tremor/Ataxia Syndrome

Fxtas Syndrome

Fragile X Tremor/Ataxia Syndrome

Fxtas
Premature Ovarian Failure 1

Ovarian Failure, Premature

Fmr1-Related Primary Ovarian Insufficiency

Fragile X-Associated Primary Ovarian Insufficiency

POF1

Pofx

Hypergonadotropic Ovarian Failure, X-Linked

Pof

Primary Ovarian Insufficiency, Fragile X-Associated

Primary Ovarian Insufficiency 1

Ovarian Failure Premature

Premature Ovarian Failure, X-Linked

Fragile X Premature Ovarian Failure

Fmr1-Related Premature Ovarian Failure

Familial Premature Ovarian Failure

Idiopathic Familial Premature Ovarian Failure

Fxpoi

X-Linked Hypergonadotropic Ovarian Failure

Hypergonadotropic Ovarian Failure X-Linked

Poi

Premature Ovarian Failure X-Linked

Primary Ovarian Insufficiency

Premature Ovarian Failure-1

Ovarian Failure, Premature, Type 1

Premature Ovarian Failure, Familial

Premature Menopause

Primary Hypogonadism

Turner Syndrome
Specific Developmental Disorder
Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis
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

相关产品

Clinical Phase
生物活性分子 (1)
目录号 产品名 作用方式
纯度 Phase
HY-14908 Vidofludimus 99.11% Phase 2
Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-14908A Vidofludimus hemicalcium / 否
HY-160929 Linafexor Agonist / 否
HY-RS05163 FXR1 Human Pre-designed siRNA Set A / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris FXR1 VGNC VGNC:53461
Macaca mulatta FXR1 VGNC VGNC:84179
Mus musculus FXR1 MGD MGI:104860
Felis catus FXR1 VGNC VGNC:102709
Rattus norvegicus FXR1 RGD RGD:1311733
Bos taurus FXR1 VGNC VGNC:56218
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