RBFOX3

Protein identityUniProt · HPA

UniProt accession

A6NFN3

Gene

RBFOX3

Ensembl

ENSG00000167281

Chromosome

17

Canonical length

312 aa

Protein class

Predicted intracellular proteins

Subcellular location

Nucleoplasm

OverviewNCBI Gene

This gene encodes a member of the RNA-binding FOX protein family which is involved in the regulation of alternative splicing of pre-mRNA. The protein has an N-terminal proline-rich region, an RNA recognition motif (RRM) domain, and a C-terminal alanine-rich region. This gene produces the neuronal nuclei (NeuN) antigen that has been widely used as a marker for post-mitotic neurons. This gene has its highest expression in the central nervous system and plays a prominent role in neural tissue development and regulation of adult brain function. Mutations in this gene have been associated with numerous neurological disorders. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2017]

Canonical amino-acid sequenceUniProt

312 residues, UniProt reviewed canonical sequence.

>A6NFN3|RBFOX3
     1  MAQPYPPAQY PPPPQNGIPA EYAPPPPHPT QDYSGQTPVP TEHGMTLYTP AQTHPEQPGS
    61  EASTQPIAGT QTVPQTDEAA QTDSQPLHPS DPTEKQQPKR LHVSNIPFRF RDPDLRQMFG
   121  QFGKILDVEI IFNERGSKGF GFVTFETSSD ADRAREKLNG TIVEGRKIEV NNATARVMTN
   181  KKTGNPYTNG WKLNPVVGAV YGPEFYAVTG FPYPTTGTAV AYRGAHLRGR GRAVYNTFRA
   241  APPPPPIPTY GAVVYQDGFY GAEIYGGYAA YRYAQPAAAA AAYSDSYGRV YAAADPYHHT
   301  IGPAATYSIG TM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RBFOX3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.62

Highest tissue expression

274 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RBFOX3.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 340 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Self-limited epilepsy with centrotemporal spikes

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.17

gnomAD pLI

1

gnomAD missense Z

2.13

DepMap mean gene effect

0.03

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• mRNA processing
• nervous system development
• regulation of alternative mRNA splicing, via spliceosome
• RNA splicing

Molecular functions

• mRNA binding

Cellular components

• cytoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• RNA recognition motif domain
• Nucleotide-binding alpha-beta plait domain superfamily
• RNA binding protein fox-1 homolog 1-3
• Fox-1 C-terminal domain
• FOX1, RNA recognition motif
• RNA-binding domain superfamily
• RNA binding protein fox-1 homolog 1-like
• RNA recognition motif
• Calcitonin gene-related peptide regulator C terminal

KeywordsUniProt

• Cytoplasm
• Methylation
• mRNA processing
• mRNA splicing
• Nucleus
• RNA-binding