RBFOX1 - RNA binding fox-1 homolog 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54715

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	10814712	GOA

Cellular Component GO Annotation	Evidence	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

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 Set	/	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
Others	RBFOX1	NCBI