Seroatlas · Human Serome Atlas

FMR1

Fragile X messenger ribonucleoprotein 1

Also known as: FMR1_HUMAN, FMRP, FRAXA, MGC87458, POF, POF1

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

Protein identityUniProt · HPA

UniProt accession
Q06787
Gene
FMR1
Ensembl
ENSG00000102081
Chromosome
X
Canonical length
632 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Cytosol
Quaternary structure
Homodimer

OverviewNCBI Gene

The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]

Canonical amino-acid sequenceUniProt

632 residues, UniProt reviewed canonical sequence.

>Q06787|FMR1
     1  MEELVVEVRG SNGAFYKAFV KDVHEDSITV AFENNWQPDR QIPFHDVRFP PPVGYNKDIN
    61  ESDEVEVYSR ANEKEPCCWW LAKVRMIKGE FYVIEYAACD ATYNEIVTIE RLRSVNPNKP
   121  ATKDTFHKIK LDVPEDLRQM CAKEAAHKDF KKAVGAFSVT YDPENYQLVI LSINEVTSKR
   181  AHMLIDMHFR SLRTKLSLIM RNEEASKQLE SSRQLASRFH EQFIVREDLM GLAIGTHGAN
   241  IQQARKVPGV TAIDLDEDTC TFHIYGEDQD AVKKARSFLE FAEDVIQVPR NLVGKVIGKN
   301  GKLIQEIVDK SGVVRVRIEA ENEKNVPQEE EIMPPNSLPS NNSRVGPNAP EEKKHLDIKE
   361  NSTHFSQPNS TKVQRVLVAS SVVAGESQKP ELKAWQGMVP FVFVGTKDSI ANATVLLDYH
   421  LNYLKEVDQL RLERLQIDEQ LRQIGASSRP PPNRTDKEKS YVTDDGQGMG RGSRPYRNRG
   481  HGRRGPGYTS GTNSEASNAS ETESDHRDEL SDWSLAPTEE ERESFLRRGD GRRRGGGGRG
   541  QGGRGRGGGF KGNDDHSRTD NRPRNPREAK GRTTDGSLQI RVDCNNERSV HTKTLQNTSS
   601  EGSRLRTGKD RNQKKEKPDS VDGQQPLVNG VP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FMR1 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
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.49
Highest tissue expression
27 nTPM

Expression across tissuesHPA

Tissue

  • liver: 27 nTPM
  • kidney: 26 nTPM
  • epididymis: 26 nTPM
  • thyroid gland: 21 nTPM
  • parathyroid gland: 21 nTPM
  • cerebral cortex: 20 nTPM

Single-cell type

  • extravillous trophoblasts: 112 nCPM
  • neutrophils: 103 nCPM
  • epididymal efferent duct absorptive cells: 99 nCPM
  • endometrial glandular cells: 96 nCPM
  • endometrial luminal cells: 94 nCPM
  • pituicytes/fscs: 80 nCPM

Immune cell

  • neutrophil: 2.2 nTPM
  • naive CD8 T-cell: 2 nTPM
  • gdT-cell: 1.9 nTPM
  • MAIT T-cell: 1.9 nTPM
  • T-reg: 1.9 nTPM
  • basophil: 1.8 nTPM

Brain region

  • cerebellum: 37 nTPM
  • thalamus: 36 nTPM
  • cerebral cortex: 36 nTPM
  • spinal cord: 35 nTPM
  • basal ganglia: 33 nTPM
  • amygdala: 33 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FMR1.

Disease | AllUniProt

Conditions FMR1 is implicated in, by any mechanism.

Disease | GeneticClinVar

27 pathogenic / likely-pathogenic of 406 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)
0.42
gnomAD pLI
0.65
gnomAD missense Z
2.97
DepMap mean gene effect
0.02
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 FMR1 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 FMR1 as an antibody target. Whether an autoantibody or antibody against FMR1 could matter depends on whether native FMR1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FMR1 is annotated at the cell surface, where native FMR1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label FMR1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/FMR1. 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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