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RBFOX3 RNA binding fox-1 homolog 3 [ Homo sapiens (human) ]

Gene ID: 146713, updated on 5-Apr-2020

Summary

Official Symbol
RBFOX3provided by HGNC
Official Full Name
RNA binding fox-1 homolog 3provided by HGNC
Primary source
HGNC:HGNC:27097
See related
Ensembl:ENSG00000167281 MIM:616999
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FOX3; NEUN; FOX-3; HRNBP3
Summary
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]
Expression
Biased expression in brain (RPKM 11.3), prostate (RPKM 4.9) and 4 other tissues See more
Orthologs

Genomic context

See RBFOX3 in Genome Data Viewer
Location:
17q25.3
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (79089345..79665600, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (77085427..77512230, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5335 Neighboring gene endo-beta-N-acetylglucosaminidase Neighboring gene long intergenic non-protein coding RNA 2078 Neighboring gene microRNA 4739

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat downregulates the expression of RBFOX3/NEUN in human neurons PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ44838, FLJ56884, FLJ58356, MGC176616

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
mRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
RNA splicing IEA
Inferred from Electronic Annotation
more info
 
mRNA processing IEA
Inferred from Electronic Annotation
more info
 
nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of alternative mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
perikaryon IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
RNA binding protein fox-1 homolog 3
Names
RNA binding protein, fox-1 homolog 3
fox-1 homolog C
hexaribonucleotide binding protein 3
neuN antigen
neuronal nuclei antigen

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_053112.1 RefSeqGene

    Range
    100056..526859
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001082575.2NP_001076044.1  RNA binding protein fox-1 homolog 3 isoform 1

    See identical proteins and their annotated locations for NP_001076044.1

    Status: REVIEWED

    Source sequence(s)
    AC021534, AC055858, AC073624, AK293617, BU741507
    Consensus CDS
    CCDS45805.1
    UniProtKB/Swiss-Prot
    A6NFN3
    Related
    ENSP00000463653.1, ENST00000580155.5
    Conserved Domains (3) summary
    COG0724
    Location:27232
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12407
    Location:99174
    RRM_FOX1_like; RNA recognition motif in vertebrate RNA binding protein fox-1 homologs and similar proteins
    pfam12414
    Location:208297
    Fox-1_C; Calcitonin gene-related peptide regulator C terminal
  2. NM_001350451.2NP_001337380.1  RNA binding protein fox-1 homolog 3 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC020689, AC021534, AC055858, AC073624, AC233701
    Related
    ENSP00000497797.1, ENST00000648001.1
    Conserved Domains (3) summary
    COG0724
    Location:27232
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12407
    Location:99174
    RRM_FOX1_like; RNA recognition motif in vertebrate RNA binding protein fox-1 homologs and similar proteins
    pfam12414
    Location:208344
    Fox-1_C; Calcitonin gene-related peptide regulator C terminal
  3. NM_001350453.2NP_001337382.1  RNA binding protein fox-1 homolog 3 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC020689, AC021534, AC055858, AC073624, AC233701
    Consensus CDS
    CCDS45805.1
    Conserved Domains (3) summary
    COG0724
    Location:27232
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12407
    Location:99174
    RRM_FOX1_like; RNA recognition motif in vertebrate RNA binding protein fox-1 homologs and similar proteins
    pfam12414
    Location:208297
    Fox-1_C; Calcitonin gene-related peptide regulator C terminal

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    79089345..79665600 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024210.2XP_016879699.1  RNA binding protein fox-1 homolog 3 isoform X8

    UniProtKB/Swiss-Prot
    A6NFN3
    Conserved Domains (3) summary
    COG0724
    Location:27232
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12407
    Location:99174
    RRM_FOX1_like; RNA recognition motif in vertebrate RNA binding protein fox-1 homologs and similar proteins
    pfam12414
    Location:208297
    Fox-1_C; Calcitonin gene-related peptide regulator C terminal
  2. XM_024450601.1XP_024306369.1  RNA binding protein fox-1 homolog 3 isoform X8

    Conserved Domains (3) summary
    COG0724
    Location:27232
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12407
    Location:99174
    RRM_FOX1_like; RNA recognition motif in vertebrate RNA binding protein fox-1 homologs and similar proteins
    pfam12414
    Location:208297
    Fox-1_C; Calcitonin gene-related peptide regulator C terminal
  3. XM_024450600.1XP_024306368.1  RNA binding protein fox-1 homolog 3 isoform X8

    Conserved Domains (3) summary
    COG0724
    Location:27232
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12407
    Location:99174
    RRM_FOX1_like; RNA recognition motif in vertebrate RNA binding protein fox-1 homologs and similar proteins
    pfam12414
    Location:208297
    Fox-1_C; Calcitonin gene-related peptide regulator C terminal
  4. XM_024450598.1XP_024306366.1  RNA binding protein fox-1 homolog 3 isoform X4

    Related
    ENSP00000464186.1, ENST00000583458.5
    Conserved Domains (3) summary
    cd12407
    Location:98173
    RRM_FOX1_like; RNA recognition motif in vertebrate RNA binding protein fox-1 homologs and similar proteins
    pfam12414
    Location:207343
    Fox-1_C; Calcitonin gene-related peptide regulator C terminal
    cl25887
    Location:25169
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
  5. XM_017024211.2XP_016879700.1  RNA binding protein fox-1 homolog 3 isoform X11

    Conserved Domains (3) summary
    COG0724
    Location:27133
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    pfam12414
    Location:177266
    Fox-1_C; Calcitonin gene-related peptide regulator C terminal
    cl17169
    Location:99138
    RRM_SF; RNA recognition motif (RRM) superfamily
  6. XM_024450602.1XP_024306370.1  RNA binding protein fox-1 homolog 3 isoform X9

    Conserved Domains (3) summary
    cd12407
    Location:98173
    RRM_FOX1_like; RNA recognition motif in vertebrate RNA binding protein fox-1 homologs and similar proteins
    pfam12414
    Location:207296
    Fox-1_C; Calcitonin gene-related peptide regulator C terminal
    cl25887
    Location:25169
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
  7. XM_024450597.1XP_024306365.1  RNA binding protein fox-1 homolog 3 isoform X3

    Conserved Domains (3) summary
    COG0724
    Location:27232
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12407
    Location:99174
    RRM_FOX1_like; RNA recognition motif in vertebrate RNA binding protein fox-1 homologs and similar proteins
    pfam12414
    Location:208344
    Fox-1_C; Calcitonin gene-related peptide regulator C terminal
  8. XM_024450603.1XP_024306371.1  RNA binding protein fox-1 homolog 3 isoform X9

    Conserved Domains (3) summary
    cd12407
    Location:98173
    RRM_FOX1_like; RNA recognition motif in vertebrate RNA binding protein fox-1 homologs and similar proteins
    pfam12414
    Location:207296
    Fox-1_C; Calcitonin gene-related peptide regulator C terminal
    cl25887
    Location:25169
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
  9. XM_024450593.1XP_024306361.1  RNA binding protein fox-1 homolog 3 isoform X1

    Conserved Domains (3) summary
    COG0724
    Location:27232
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12407
    Location:99174
    RRM_FOX1_like; RNA recognition motif in vertebrate RNA binding protein fox-1 homologs and similar proteins
    pfam12414
    Location:208344
    Fox-1_C; Calcitonin gene-related peptide regulator C terminal
  10. XM_024450594.1XP_024306362.1  RNA binding protein fox-1 homolog 3 isoform X1

    Conserved Domains (3) summary
    COG0724
    Location:27232
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12407
    Location:99174
    RRM_FOX1_like; RNA recognition motif in vertebrate RNA binding protein fox-1 homologs and similar proteins
    pfam12414
    Location:208344
    Fox-1_C; Calcitonin gene-related peptide regulator C terminal
  11. XM_024450592.1XP_024306360.1  RNA binding protein fox-1 homolog 3 isoform X1

    Conserved Domains (3) summary
    COG0724
    Location:27232
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12407
    Location:99174
    RRM_FOX1_like; RNA recognition motif in vertebrate RNA binding protein fox-1 homologs and similar proteins
    pfam12414
    Location:208344
    Fox-1_C; Calcitonin gene-related peptide regulator C terminal
  12. XM_017024208.1XP_016879697.1  RNA binding protein fox-1 homolog 3 isoform X1

    Conserved Domains (3) summary
    COG0724
    Location:27232
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12407
    Location:99174
    RRM_FOX1_like; RNA recognition motif in vertebrate RNA binding protein fox-1 homologs and similar proteins
    pfam12414
    Location:208344
    Fox-1_C; Calcitonin gene-related peptide regulator C terminal
  13. XM_011524366.2XP_011522668.1  RNA binding protein fox-1 homolog 3 isoform X7

    Conserved Domains (3) summary
    COG0724
    Location:71231
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12407
    Location:98173
    RRM_FOX1_like; RNA recognition motif in vertebrate RNA binding protein fox-1 homologs and similar proteins
    pfam12414
    Location:207296
    Fox-1_C; Calcitonin gene-related peptide regulator C terminal
  14. XM_011524362.2XP_011522664.1  RNA binding protein fox-1 homolog 3 isoform X2

    Conserved Domains (3) summary
    COG0724
    Location:71231
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12407
    Location:98173
    RRM_FOX1_like; RNA recognition motif in vertebrate RNA binding protein fox-1 homologs and similar proteins
    pfam12414
    Location:207343
    Fox-1_C; Calcitonin gene-related peptide regulator C terminal
  15. XM_011524367.2XP_011522669.1  RNA binding protein fox-1 homolog 3 isoform X10

    Conserved Domains (3) summary
    COG0724
    Location:27133
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    pfam12414
    Location:177266
    Fox-1_C; Calcitonin gene-related peptide regulator C terminal
    cl17169
    Location:99138
    RRM_SF; RNA recognition motif (RRM) superfamily
  16. XM_017024209.1XP_016879698.1  RNA binding protein fox-1 homolog 3 isoform X5

    Related
    ENSP00000463964.1, ENST00000582043.5
    Conserved Domains (3) summary
    COG0724
    Location:27133
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    pfam12414
    Location:177313
    Fox-1_C; Calcitonin gene-related peptide regulator C terminal
    cl17169
    Location:99138
    RRM_SF; RNA recognition motif (RRM) superfamily
  17. XM_011524365.2XP_011522667.1  RNA binding protein fox-1 homolog 3 isoform X6

    Related
    ENSP00000462007.1, ENST00000584778.5
    Conserved Domains (3) summary
    COG0724
    Location:27232
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12407
    Location:99174
    RRM_FOX1_like; RNA recognition motif in vertebrate RNA binding protein fox-1 homologs and similar proteins
    pfam12414
    Location:208297
    Fox-1_C; Calcitonin gene-related peptide regulator C terminal
  18. XM_011524359.1XP_011522661.1  RNA binding protein fox-1 homolog 3 isoform X1

    See identical proteins and their annotated locations for XP_011522661.1

    Conserved Domains (3) summary
    COG0724
    Location:27232
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12407
    Location:99174
    RRM_FOX1_like; RNA recognition motif in vertebrate RNA binding protein fox-1 homologs and similar proteins
    pfam12414
    Location:208344
    Fox-1_C; Calcitonin gene-related peptide regulator C terminal
  19. XM_011524360.1XP_011522662.1  RNA binding protein fox-1 homolog 3 isoform X1

    See identical proteins and their annotated locations for XP_011522662.1

    Conserved Domains (3) summary
    COG0724
    Location:27232
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12407
    Location:99174
    RRM_FOX1_like; RNA recognition motif in vertebrate RNA binding protein fox-1 homologs and similar proteins
    pfam12414
    Location:208344
    Fox-1_C; Calcitonin gene-related peptide regulator C terminal
  20. XM_024450596.1XP_024306364.1  RNA binding protein fox-1 homolog 3 isoform X1

    Conserved Domains (3) summary
    COG0724
    Location:27232
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12407
    Location:99174
    RRM_FOX1_like; RNA recognition motif in vertebrate RNA binding protein fox-1 homologs and similar proteins
    pfam12414
    Location:208344
    Fox-1_C; Calcitonin gene-related peptide regulator C terminal
  21. XM_024450599.1XP_024306367.1  RNA binding protein fox-1 homolog 3 isoform X6

    Conserved Domains (3) summary
    COG0724
    Location:27232
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12407
    Location:99174
    RRM_FOX1_like; RNA recognition motif in vertebrate RNA binding protein fox-1 homologs and similar proteins
    pfam12414
    Location:208297
    Fox-1_C; Calcitonin gene-related peptide regulator C terminal
  22. XM_024450595.1XP_024306363.1  RNA binding protein fox-1 homolog 3 isoform X1

    Conserved Domains (3) summary
    COG0724
    Location:27232
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12407
    Location:99174
    RRM_FOX1_like; RNA recognition motif in vertebrate RNA binding protein fox-1 homologs and similar proteins
    pfam12414
    Location:208344
    Fox-1_C; Calcitonin gene-related peptide regulator C terminal

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001025448.1: Suppressed sequence

    Description
    NM_001025448.1: This RefSeq was permanently suppressed because it contains the wrong CDS.
  2. NM_001039904.1: Suppressed sequence

    Description
    NM_001039904.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
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