RBFOX1 - RNA binding fox-1 homolog 1 Gene

Homo sapiens

Also known as 2BP1; FOX1; A2BP1; FOX-1; HRNBP1

Gene ID: 54715 | Gene type: protein coding

About RBFOX1

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:5,239,738-7,713,340 (from NCBI)

This gene has 40 transcripts (splice variants), 178 orthologues, 2 paralogues and is associated with 1 phenotype. Biased expression in brain (RPKM 11.3) and heart (RPKM 2.5).

Summary

The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

RBFOX1 Products(9)

mRNA	Protein	Name
NM_001142333.2	NP_001135805.1	RNA binding protein fox-1 homolog 1 isoform 5
NM_001142334.2	NP_001135806.1	RNA binding protein fox-1 homolog 1 isoform 4
NM_001308117.1	NP_001295046.1	RNA binding protein fox-1 homolog 1 isoform 6
NM_001364800.2	NP_001351729.1	RNA binding protein fox-1 homolog 1 isoform 7
NM_001411047.1	NP_001397976.1	RNA binding protein fox-1 homolog 1 isoform 8
NM_018723.4	NP_061193.2	RNA binding protein fox-1 homolog 1 isoform 4
NM_145891.3	NP_665898.1	RNA binding protein fox-1 homolog 1 isoform 1
NM_145892.3	NP_665899.1	RNA binding protein fox-1 homolog 1 isoform 2
NM_145893.3	NP_665900.1	RNA binding protein fox-1 homolog 1 isoform 3

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	10814712	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	10814712	GOA
located in cytoplasmic stress granule	IDA IDA: Inferred from direct assay	29358748	GOA
located in nuclear stress granule	IDA IDA: Inferred from direct assay	29358748	GOA
located in trans-Golgi network	IDA IDA: Inferred from direct assay	10814712	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

RBFOX1 Protein Structure

RRM_1

Fox-1_C

0
100
200
300
397 a.a.

Protein Preferred Names

Protein Names

RNA binding protein fox-1 homolog 1

RNA binding protein, fox-1 homolog 1

RBFOX1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	RBFOX1	Q9NWB1	RBPMS	Homo sapiens	Q93062	Y2H Prey Pooling	25416956
Intra	RBFOX1	Q9NWB1	RBPMS	Homo sapiens	Q93062	Validated Y2H	25416956
Intra	RBFOX1	Q9NWB1	RBFOX2	Homo sapiens	O43251	Y2H	16713569
Intra	RBFOX1	Q9NWB1	RBFOX2	Homo sapiens	O43251	Pull Down	16713569
Intra	RBFOX1	Q9NWB1	ATXN1	Homo sapiens	P54253	Pull Down	16713569
Intra	RBFOX1	Q9NWB1	ATXN1	Homo sapiens	P54253	Y2H	16713569
Intra	RBFOX1	Q9NWB1	QKI	Homo sapiens	Q96PU8	Pull Down	16713569
Intra	RBFOX1	Q9NWB1	QKI	Homo sapiens	Q96PU8	Y2H	16713569
Intra	RBFOX1	Q9NWB1	PSMF1	Homo sapiens	Q92530	Pull Down	16713569
Intra	RBFOX1	Q9NWB1	NUMBL	Homo sapiens	Q9Y6R0	Pull Down	16713569
Intra	RBFOX1	Q9NWB1	PLEKHA5	Homo sapiens	Q9HAU0	Pull Down	16713569
Intra	RBFOX1	Q9NWB1	PLEKHA5	Homo sapiens	Q9HAU0	Y2H Array	16713569
Intra	RBFOX1	Q9NWB1	ATN1	Homo sapiens	P54259	Y2H	16713569
Intra	RBFOX1	Q9NWB1	ATN1	Homo sapiens	P54259	Pull Down	16713569
Intra	RBFOX1	Q9NWB1	C1orf94	Homo sapiens	Q6P1W5	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy	Benign Rolandic Epilepsy
Epilepsy, Rolandic	Bcects
Benign Childhood Epilepsy With Centrotemporal Spike	Sylvan Seizures
Becrs	Bects
Bre	Benign Epilepsy Of Childhood With Centrotemporal Spikes
Benign Familial Epilepsy Of Childhood With Rolandic Spikes	Centrotemporal Epilepsy

Colorectal Cancer

Colon Cancer	Colorectal Carcinoma
Colon Carcinoma	Colorectal Cancer, Susceptibility To
Carcinoma Of Colon	CRC
Colorectal Cancer With Chromosomal Instability, Somatic	Colon Cancer, Somatic
Colon Cancer, Susceptibility To	Colonic Neoplasms
Colorectal Neoplasms	Colorectal Cancer, Somatic
Colon Cancer, Advanced, Somatic	Colonic Carcinoma
Colorectal Carcinomas	Colon Cancers
Colorectal Cancers	Cancer, Colorectal, Somatic
Cancer, Colon	Cancer, Colorectal, Susceptibility To
Colorectal Neoplasm	Colonic Neoplasm
Malignant Tumor Of Colon

Spinocerebellar Ataxia 2

Spinocerebellar Ataxia Type 2	SCA2
Amyotrophic Lateral Sclerosis 13	Spinocerebellar Degeneration With Slow Eye Movements
SDSEM	Spinocerebellar Atrophy Ii
Olivopontocerebellar Atrophy Ii	Opca2
Cerebellar Degeneration With Slow Eye Movements	Wadia-Swami Syndrome
Amyotrophic Lateral Sclerosis Type 13	ALS13
Olivopontocerebellar Atrophy Holguin Type	Spinocerebellar Ataxia Cuban Type
Olivopontocerebellar Atrophy, Holguin Type	Spinocerebellar Ataxia, Cuban Type
Amyotrophic Lateral Sclerosis, Susceptibility To, 13	Olivopontocerebellar Atrophy 2
Sca 2	Spinocerebellar Ataxia With Slow Eye Movements
Spinocerebellar Atrophy 2	Wadia Swami Syndrome
Opca Ii	Spinocerebellar Ataxia-2
Ataxia, Spinocerebellar, Type 2

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy	Non-Specific Eoee
Undetermined Eoee

Conduct Disorder

Rett Syndrome

Atypical Rett Syndrome	RTT
Rett Disorder	Rts
Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use	Rett Syndrome, Preserved Speech Variant
Rett Syndrome, Atypical	Rett'S Disorder
Rett Syndrome Variant	Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
Cerebroatrophic Hyperammonemia	Rett Like Syndrome
Rett'S Syndrome	Atypical Rtt
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use	Rett Syndrome Preserved Speech Variant
Rett Syndrome Zappella Variant	Rett Syndrome, Zappella Variant

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Myopia

Near-Sightedness	Short-Sightedness
Nearsightedness	Nearsighted
Near Vision	Close Sighted
Myopic	Short-Sighted
Near Sighted

Bipolar Disorder

Bipolar Depression	Manic Disorder
Depression, Bipolar	Bipolar Disorder Manic Phase
Depressive-Manic Psych.	Manic Bipolar Affective Disorder
Manic Bipolar I Disorder	Manic Depression
Manic Depressive Disorder	Mixed Bipolar Disorder
Bipolar Affective Disorder	Bipolar Affective Psychosis
Bipolar Spectrum Disorder	Manic Depressive Illness
Depression Bipolar	Bipolar Disorder, Mixed
Major Affective Disorder	Major Affective Disorder 1
Major Affective Disorder 2

Pervasive Developmental Disorder

Pervasive Development Disorder	Pervasive Developmental Disorders
Pervasive Child Development Disorders	Autistic Behavior
Autism Spectrum Disorders

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia	Adca
Pierre Marie Cerebellar Ataxia	Ataxia, Spinocerebellar
Sca	Autosomal Dominant Spinocerebellar Ataxia
Spinocerebellar Ataxias

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder	ADHD
Attention Deficit Disorder	Attention Deficit-Hyperactivity Disorder, Susceptibility To
Attention Deficit Disorder With Hyperactivity	Hyperkinetic Disorder
Hyperactivity Of Childhood	Attention-Deficit/Hyperactivity Disorder
Add	Addh
Attention Deficit	Attention Deficit Disorder Of Childhood With Hyperactivity
Attention Deficit Disorder With Hyperactivity Syndrome	Hyperkinetic Syndrome
Attention-Deficit Hyperactivity Disorder	Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
Disturbance Of Activity And Attention	Disorder Of Activity And Attention
Adhd - [Attention Deficit Hyperactivity Disorder]	Hyperkinetic Disorders
Disorder Of Activity And Attention With Hyperkinesia	Attention Deficit Syndrome With Hyperactivity

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11724	RBFOX1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	RBFOX1	VGNC	VGNC:76507
Felis catus	RBFOX1	VGNC	VGNC:64516
Bos taurus	RBFOX1	VGNC	VGNC:33777
Mus musculus	RBFOX1	MGD	MGI:1926224
Canis familiaris	RBFOX1	VGNC	VGNC:45398
Rattus norvegicus	RBFOX1	RGD	RGD:1311210

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