Seroatlas · Human Serome Atlas

RBFOX1

RNA binding protein fox-1 homolog 1

Also known as: A2BP1, FOX-1, HRNBP1, RFOX1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9NWB1
Gene
RBFOX1
Ensembl
ENSG00000078328
Chromosome
16
Canonical length
397 aa
Protein class
Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nucleoli fibrillar center,Golgi apparatus,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

397 residues, UniProt reviewed canonical sequence.

>Q9NWB1|RBFOX1
     1  MNCEREQLRG NQEAAAAPDT MAQPYASAQF APPQNGIPAE YTAPHPHPAP EYTGQTTVPE
    61  HTLNLYPPAQ THSEQSPADT SAQTVSGTAT QTDDAAPTDG QPQTQPSENT ENKSQPKRLH
   121  VSNIPFRFRD PDLRQMFGQF GKILDVEIIF NERGSKGFGF VTFENSADAD RAREKLHGTV
   181  VEGRKIEVNN ATARVMTNKK TVNPYTNGWK LNPVVGAVYS PEFYAGTVLL CQANQEGSSM
   241  YSAPSSLVYT SAMPGFPYPA ATAAAAYRGA HLRGRGRTVY NTFRAAAPPP PIPAYGGVVY
   301  QDGFYGADIY GGYAAYRYAQ PTPATAAAYS DSYGRVYAAD PYHHALAPAP TYGVGAMNAF
   361  APLTDAKTRS HADDVGLVLS SLQASIYRGG YNRFAPY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RBFOX1 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)
0.65
Highest tissue expression
81 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 81 nTPM
  • cerebral cortex: 66 nTPM
  • basal ganglia: 46 nTPM
  • tongue: 41 nTPM
  • cerebellum: 41 nTPM
  • hippocampal formation: 33 nTPM

Single-cell type

  • brain inhibitory neurons: 6,576 nCPM
  • brain excitatory neurons: 6,365 nCPM
  • retinal ganglion cells: 3,693 nCPM
  • podocytes: 3,330 nCPM
  • other brain neurons: 2,690 nCPM
  • retinal amacrine cells: 2,565 nCPM

Immune cell

  • neutrophil: 0.6 nTPM
  • basophil: 0.5 nTPM
  • eosinophil: 0.3 nTPM
  • naive B-cell: 0.3 nTPM
  • gdT-cell: 0.2 nTPM
  • memory B-cell: 0.2 nTPM

Brain region

  • cerebral cortex: 280 nTPM
  • basal ganglia: 183 nTPM
  • hippocampal formation: 180 nTPM
  • white matter: 178 nTPM
  • amygdala: 129 nTPM
  • cerebellum: 108 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RBFOX1.

Disease | GeneticClinVar

16 pathogenic / likely-pathogenic of 613 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.34
gnomAD pLI
0.95
gnomAD missense Z
0.2
DepMap mean gene effect
-0.07
DepMap dependency class
selective

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RBFOX1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RBFOX1 as an antibody target. Whether an autoantibody or antibody against RBFOX1 could matter depends on whether native RBFOX1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RBFOX1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label RBFOX1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RBFOX1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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