Seroatlas · Human Serome Atlas

FRRS1L

DOMON domain-containing protein FRRS1L

Also known as: C9orf4, CG-6, FRS1L_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9P0K9
Gene
FRRS1L
Ensembl
ENSG00000260230
Chromosome
9
Canonical length
293 aa
Protein class
Disease related genes, Human disease related genes, Predicted membrane proteins

OverviewNCBI Gene

This gene encodes a component of the outer-core of an alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor protein in the brain. The encoded protein is thought to interact with inner-core components of the receptor, and play a role in the modulation of glutamate signaling. Mutations in this gene are associated with early infantile epileptic encephalopathy 37. [provided by RefSeq, Jul 2016]

Canonical amino-acid sequenceUniProt

293 residues, UniProt reviewed canonical sequence.

>Q9P0K9|FRRS1L
     1  MARPPRQHPG VWASLLLLLL TGPAACAASP ADDGAGPGGR GPRGRARGDT GADEAVPRHD
    61  SSYGTFAGEF YDLRYLSEEG YPFPTAPPVD PFAKIKVDDC GKTKGCFRYG KPGCNAETCD
   121  YFLSYRMIGA DVEFELSADT DGWVAVGFSS DKKMGGDDVM ACVHDDNGRV RIQHFYNVGQ
   181  WAKEIQRNPA RDEEGVFENN RVTCRFKRPV NVPRDETIVD LHLSWYYLFA WGPAIQGSIT
   241  RHDIDSPPAS ERVVSIYKYE DIFMPSAAYQ TFSSPFCLLL IVALTFYLLM GTP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FRRS1L 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
1
Mean surface accessibility (rSASA)
0.43
Highest tissue expression
27 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 27 nTPM
  • cerebellum: 23 nTPM
  • basal ganglia: 22 nTPM
  • hypothalamus: 16 nTPM
  • hippocampal formation: 13 nTPM
  • amygdala: 12 nTPM

Single-cell type

  • early spermatids: 235 nCPM
  • brain inhibitory neurons: 220 nCPM
  • other brain neurons: 199 nCPM
  • brain excitatory neurons: 192 nCPM
  • adrenal medulla cells: 170 nCPM
  • retinal amacrine cells: 156 nCPM

Immune cell

  • basophil: 0.6 nTPM
  • neutrophil: 0.4 nTPM
  • NK-cell: 0.2 nTPM
  • classical monocyte: 0.1 nTPM
  • memory B-cell: 0.1 nTPM
  • naive B-cell: 0.1 nTPM

Brain region

  • cerebral cortex: 62 nTPM
  • basal ganglia: 57 nTPM
  • hypothalamus: 56 nTPM
  • hippocampal formation: 54 nTPM
  • amygdala: 46 nTPM
  • cerebellum: 42 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FRRS1L.

Disease | AllUniProt

Conditions FRRS1L is implicated in, by any mechanism.

  • Developmental and epileptic encephalopathy 37 (DEE37) MIM:616981

Disease | GeneticClinVar

39 pathogenic / likely-pathogenic of 437 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Developmental and epileptic encephalopathy, 37
  • Seizure
  • Chorea
  • Progressive encephalopathy
  • FRRS1L-related disorder

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)
1.09
gnomAD pLI
0
gnomAD missense Z
0.58
DepMap mean gene effect
0.05
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FRRS1L as an antibody target. Whether an autoantibody or antibody against FRRS1L could matter depends on whether native FRRS1L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FRRS1L is annotated at the cell surface, where native FRRS1L 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 FRRS1L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/FRRS1L. 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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