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FXR1 - FMR1 autosomal homolog 1 Gene

Also Known as FXR1P; MYOPMIL; MYORIBF

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8087

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

FXR1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81004	FXR1 Antibody (YA3513)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat
HY-P86610	FXR1 Antibody (YA6302)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

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
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-14908	Vidofludimus		99.14%	Phase 2

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-14908A	Vidofludimus hemicalcium		/	Unkown
HY-RS05163	FXR1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20736	Fxr1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27248	Fxr1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	FXR1	NCBI