Seroatlas · Human Serome Atlas

FXR1

RNA-binding protein FXR1

Also known as: FXR1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P51114
Gene
FXR1
Ensembl
ENSG00000114416
Chromosome
3
Canonical length
621 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Cytosol
Quaternary structure
Homodimer

OverviewNCBI Gene

The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

621 residues, UniProt reviewed canonical sequence.

>P51114|FXR1
     1  MAELTVEVRG SNGAFYKGFI KDVHEDSLTV VFENNWQPER QVPFNEVRLP PPPDIKKEIS
    61  EGDEVEVYSR ANDQEPCGWW LAKVRMMKGE FYVIEYAACD ATYNEIVTFE RLRPVNQNKT
   121  VKKNTFFKCT VDVPEDLREA CANENAHKDF KKAVGACRIF YHPETTQLMI LSASEATVKR
   181  VNILSDMHLR SIRTKLMLMS RNEEATKHLE CTKQLAAAFH EEFVVREDLM GLAIGTHGSN
   241  IQQARKVPGV TAIELDEDTG TFRIYGESAD AVKKARGFLE FVEDFIQVPR NLVGKVIGKN
   301  GKVIQEIVDK SGVVRVRIEG DNENKLPRED GMVPFVFVGT KESIGNVQVL LEYHIAYLKE
   361  VEQLRMERLQ IDEQLRQIGS RSYSGRGRGR RGPNYTSGYG TNSELSNPSE TESERKDELS
   421  DWSLAGEDDR DSRHQRDSRR RPGGRGRSVS GGRGRGGPRG GKSSISSVLK DPDSNPYSLL
   481  DNTESDQTAD TDASESHHST NRRRRSRRRR TDEDAVLMDG MTESDTASVN ENGLVTVADY
   541  ISRAESQSRQ RNLPRETLAK NKKEMAKDVI EEHGPSEKAI NGPTSASGDD ISKLQRTPGE
   601  EKINTLKEEN TQEAAVLNGV S

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FXR1 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)
0.47
Highest tissue expression
741 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 741 nTPM
  • tongue: 425 nTPM
  • testis: 125 nTPM
  • heart muscle: 112 nTPM
  • spinal cord: 56 nTPM
  • choroid plexus: 50 nTPM

Single-cell type

  • late spermatids: 2,893 nCPM
  • early spermatids: 1,105 nCPM
  • late primary spermatocytes: 870 nCPM
  • myonuclei: 484 nCPM
  • thymic myoid cells: 441 nCPM
  • oocytes: 276 nCPM

Immune cell

  • T-reg: 23 nTPM
  • naive CD4 T-cell: 16 nTPM
  • myeloid DC: 15 nTPM
  • intermediate monocyte: 14 nTPM
  • memory B-cell: 14 nTPM
  • naive CD8 T-cell: 14 nTPM

Brain region

  • white matter: 152 nTPM
  • hypothalamus: 98 nTPM
  • medulla oblongata: 95 nTPM
  • pons: 94 nTPM
  • basal ganglia: 94 nTPM
  • cerebellum: 92 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FXR1.

Disease | AllUniProt

Conditions FXR1 is implicated in, by any mechanism.

  • Congenital myopathy 9A (CMYO9A) MIM:618822
  • Congenital myopathy 9B, proximal, with minicore lesions (CMYO9B) MIM:618823

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 94 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • FXR1-related disorder
  • Myopathy, congenital proximal, with minicore lesions
  • Myopathy, congenital, with respiratory insufficiency and bone fractures
  • Intellectual disability

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)
0.12
gnomAD pLI
1
gnomAD missense Z
3.2
DepMap mean gene effect
0
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 15% 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 FXR1 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 FXR1 as an antibody target. Whether an autoantibody or antibody against FXR1 could matter depends on whether native FXR1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FXR1 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 FXR1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/FXR1. 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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