FXR1 - FMR1 autosomal homolog 1 Gene

Homo sapiens

Also known as FXR1P; MYOPMIL; MYORIBF

Gene ID: 8087 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables RNA binding	IDA IDA: Inferred from direct assay	35989368	GOA
enables RNA binding	IMP IMP: Inferred from mutant phenotype	25225333	GOA
enables RNA strand annealing activity	IDA IDA: Inferred from direct assay	17057366	GOA
enables mRNA 3'-UTR AU-rich region binding	IDA IDA: Inferred from direct assay	17382880	GOA
enables mRNA 3'-UTR binding	IDA IDA: Inferred from direct assay	34731628	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	7489725	GOA
enables protein heterodimerization activity	IDA IDA: Inferred from direct assay	7489725	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	7489725	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mRNA destabilization	IDA IDA: Inferred from direct assay	30067974	GOA
involved in muscle organ development	IMP IMP: Inferred from mutant phenotype	30770808	GOA
involved in negative regulation of inflammatory response	IDA IDA: Inferred from direct assay	30067974	GOA
involved in negative regulation of mRNA catabolic process	IMP IMP: Inferred from mutant phenotype	25225333	GOA
involved in nuclear pore complex assembly	IDA IDA: Inferred from direct assay	32706158	GOA
involved in nuclear pore localization	IDA IDA: Inferred from direct assay	32706158	GOA
involved in positive regulation of miRNA-mediated gene silencing	IDA IDA: Inferred from direct assay	17057366	GOA
involved in positive regulation of translation	IDA IDA: Inferred from direct assay	17382880	GOA
involved in skeletal muscle organ development	IMP IMP: Inferred from mutant phenotype	30770808	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in cytoplasm	IDA IDA: Inferred from direct assay	9259278	GOA
located in cytoplasm	IMP IMP: Inferred from mutant phenotype	30770808	GOA
is active in cytoplasmic ribonucleoprotein granule	IDA IDA: Inferred from direct assay	32706158	GOA
is active in cytoplasmic stress granule	IDA IDA: Inferred from direct assay	12417522	GOA
located in cytosol	IDA IDA: Inferred from direct assay	30770808	GOA
is active in nuclear envelope	IDA IDA: Inferred from direct assay	32706158	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

FXR1 Protein Structure

Agenet

KH_1

FXMRP1_C_core

0
100
200
300
400
500
621 a.a.

Protein Preferred Names

Protein Names

RNA-binding protein FXR1

FXR1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	FXR1	P51114	FMR1	Homo sapiens	Q06787	TAP	24981860
Intra	FXR1	P51114	FMR1	Homo sapiens	Q06787	Y2H Pooling	21653829
Intra	FXR1	P51114	FXR2	Homo sapiens	P51116	TAP	24981860

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

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

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-14908	Vidofludimus		99.11%	Phase 2

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-14908A	Vidofludimus hemicalcium		/	Unkown
HY-160929	Linafexor	Agonist	/	Unkown
HY-RS05163	FXR1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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