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... See more...

Aliases for FRRS1L Gene

Aliases for FRRS1L Gene

  • Ferric Chelate Reductase 1 Like 2 3 5
  • DOMON Domain-Containing Protein FRRS1L 3 4
  • Brain Protein CG-6 3 4
  • C9orf4 3 4
  • CG-6 2 3
  • Ferric-Chelate Reductase 1-Like Protein 4
  • Chromosome 9 Open Reading Frame 4 2
  • Ferric-Chelate Reductase 1-Like 2
  • EIEE37 3
  • FRRS1L 5
  • CG6 3

External Ids for FRRS1L Gene

Previous HGNC Symbols for FRRS1L Gene

  • C9orf4

Previous GeneCards Identifiers for FRRS1L Gene

  • GC09M111900

Summaries for FRRS1L Gene

Entrez Gene Summary for FRRS1L 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]

GeneCards Summary for FRRS1L Gene

FRRS1L (Ferric Chelate Reductase 1 Like) is a Protein Coding gene. Diseases associated with FRRS1L include Epileptic Encephalopathy, Early Infantile, 37 and Chorea, Childhood-Onset, With Psychomotor Retardation. An important paralog of this gene is FRRS1.

UniProtKB/Swiss-Prot Summary for FRRS1L Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FRRS1L Gene

Genomics for FRRS1L Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FRRS1L Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FRRS1L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FRRS1L

Genomic Locations for FRRS1L Gene

Genomic Locations for FRRS1L Gene
chr9:109,130,293-109,167,295
(GRCh38/hg38)
Size:
37,003 bases
Orientation:
Minus strand
chr9:111,892,573-111,929,571
(GRCh37/hg19)
Size:
36,999 bases
Orientation:
Minus strand

Genomic View for FRRS1L Gene

Genes around FRRS1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FRRS1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FRRS1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FRRS1L Gene

Proteins for FRRS1L Gene

  • Protein details for FRRS1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P0K9-FRS1L_HUMAN
    Recommended name:
    DOMON domain-containing protein FRRS1L
    Protein Accession:
    Q9P0K9
    Secondary Accessions:
    • Q5T4G4

    Protein attributes for FRRS1L Gene

    Size:
    344 amino acids
    Molecular mass:
    37270 Da
    Quaternary structure:
    • Component of the outer core of AMPAR complex. AMPAR complex consists of an inner core made of 4 pore-forming GluA/GRIA proteins (GRIA1, GRIA2, GRIA3 and GRIA4) and 4 major auxiliary subunits arranged in a twofold symmetry. One of the two pairs of distinct binding sites is occupied either by CNIH2, CNIH3 or CACNG2, CACNG3. The other harbors CACNG2, CACNG3, CACNG4, CACNG8 or GSG1L. This inner core of AMPAR complex is complemented by outer core constituents binding directly to the GluA/GRIA proteins at sites distinct from the interaction sites of the inner core constituents. Outer core constituents include at least PRRT1, PRRT2, CKAMP44/SHISA9, FRRS1L and NRN1. The proteins of the inner and outer core serve as a platform for other, more peripherally associated AMPAR constituents. Alone or in combination, these auxiliary subunits control the gating and pharmacology of the AMPAR complex and profoundly impact their biogenesis and protein processing (By similarity).

neXtProt entry for FRRS1L Gene

Post-translational modifications for FRRS1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FRRS1L Gene

No data available for DME Specific Peptides for FRRS1L Gene

Domains & Families for FRRS1L Gene

Gene Families for FRRS1L Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for FRRS1L Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FRRS1L Gene

GenScript: Design optimal peptide antigens:
  • Brain protein CG-6 (CI004_HUMAN)
genes like me logo Genes that share domains with FRRS1L: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FRRS1L Gene

Function for FRRS1L Gene

Molecular function for FRRS1L Gene

UniProtKB/Swiss-Prot Function:
Important modulator of glutamate signaling pathway.

Phenotypes From GWAS Catalog for FRRS1L Gene

Gene Ontology (GO) - Molecular Function for FRRS1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with FRRS1L: view
genes like me logo Genes that share phenotypes with FRRS1L: view

Human Phenotype Ontology for FRRS1L Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FRRS1L Gene

MGI Knock Outs for FRRS1L:
  • Frrs1l Frrs1l<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FRRS1L

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FRRS1L Gene

Localization for FRRS1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for FRRS1L Gene

Cell membrane. Cell junction, synapse.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FRRS1L gene
Compartment Confidence
plasma membrane 4
mitochondrion 2
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for FRRS1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with FRRS1L: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FRRS1L Gene

Pathways & Interactions for FRRS1L Gene

PathCards logo

SuperPathways for FRRS1L Gene

No Data Available

Interacting Proteins for FRRS1L Gene

Gene Ontology (GO) - Biological Process for FRRS1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0099072 regulation of postsynaptic membrane neurotransmitter receptor levels IEA,IBA 21873635
GO:1900449 regulation of glutamate receptor signaling pathway IMP 27236917
genes like me logo Genes that share ontologies with FRRS1L: view

No data available for Pathways by source and SIGNOR curated interactions for FRRS1L Gene

Drugs & Compounds for FRRS1L Gene

No Compound Related Data Available

Transcripts for FRRS1L Gene

mRNA/cDNA for FRRS1L Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FRRS1L

Alternative Splicing Database (ASD) splice patterns (SP) for FRRS1L Gene

No ASD Table

Relevant External Links for FRRS1L Gene

GeneLoc Exon Structure for
FRRS1L

Expression for FRRS1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FRRS1L Gene

mRNA differential expression in normal tissues according to GTEx for FRRS1L Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x5.2), Brain - Anterior cingulate cortex (BA24) (x4.9), Brain - Frontal Cortex (BA9) (x4.9), Brain - Cerebellar Hemisphere (x4.7), Brain - Cerebellum (x4.1), and Brain - Cortex (x4.0).

Protein differential expression in normal tissues from HIPED for FRRS1L Gene

This gene is overexpressed in Frontal cortex (45.0) and Fetal Brain (17.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FRRS1L Gene



Protein tissue co-expression partners for FRRS1L Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FRRS1L

SOURCE GeneReport for Unigene cluster for FRRS1L Gene:

Hs.347537

mRNA Expression by UniProt/SwissProt for FRRS1L Gene:

Q9P0K9-FRS1L_HUMAN
Tissue specificity: Expressed in adult and fetal brain. Very weak expression in medulla, spinal cord and in adult ovary.

Evidence on tissue expression from TISSUES for FRRS1L Gene

  • Nervous system(2.6)
genes like me logo Genes that share expression patterns with FRRS1L: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for FRRS1L Gene

Orthologs for FRRS1L Gene

This gene was present in the common ancestor of chordates.

Orthologs for FRRS1L Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FRRS1L 30 31
  • 99.52 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FRRS1L 31
  • 98 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FRRS1L 31
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia FRRS1L 30 31
  • 94.37 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FRRS1L 30 31
  • 92.4 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Frrs1l 30 17 31
  • 87.94 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Frrs1l 30
  • 87.71 (n)
Chicken
(Gallus gallus)
Aves FRRS1L 31
  • 90 (a)
OneToOne
C9ORF4 30
  • 84.64 (n)
Lizard
(Anolis carolinensis)
Reptilia FRRS1L 31
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100490518 30
  • 75.95 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100536668 30
  • 76.6 (n)
FRRS1L 31
  • 75 (a)
OneToOne
Species where no ortholog for FRRS1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for FRRS1L Gene

ENSEMBL:
Gene Tree for FRRS1L (if available)
TreeFam:
Gene Tree for FRRS1L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FRRS1L: view image

Paralogs for FRRS1L Gene

Paralogs for FRRS1L Gene

genes like me logo Genes that share paralogs with FRRS1L: view

Variants for FRRS1L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FRRS1L Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
638945 Uncertain Significance: Epileptic encephalopathy, early infantile, 37 109,167,233(-) C/A MISSENSE_VARIANT
643001 Uncertain Significance: Epileptic encephalopathy, early infantile, 37 109,167,008(-) C/A MISSENSE_VARIANT
644118 Uncertain Significance: Epileptic encephalopathy, early infantile, 37 109,147,076(-) A/T MISSENSE_VARIANT
646195 Uncertain Significance: Epileptic encephalopathy, early infantile, 37 109,137,543(-) G/A MISSENSE_VARIANT
649021 Uncertain Significance: Epileptic encephalopathy, early infantile, 37 109,137,597(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for FRRS1L Gene

Structural Variations from Database of Genomic Variants (DGV) for FRRS1L Gene

Variant ID Type Subtype PubMed ID
esv3307202 CNV mobile element insertion 20981092
esv3402109 CNV insertion 20981092
esv3621429 CNV loss 21293372
esv3621430 CNV loss 21293372
nsv1077170 CNV deletion 25765185
nsv1126916 CNV deletion 24896259
nsv1137495 CNV deletion 24896259

Variation tolerance for FRRS1L Gene

Residual Variation Intolerance Score: 53.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.36; 26.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FRRS1L Gene

Human Gene Mutation Database (HGMD)
FRRS1L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FRRS1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FRRS1L Gene

Disorders for FRRS1L Gene

MalaCards: The human disease database

(9) MalaCards diseases for FRRS1L Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

FRS1L_HUMAN
  • Epileptic encephalopathy, early infantile, 37 (EIEE37) [MIM:616981]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE37 is an autosomal recessive, severe form manifesting in the first years of life. Affected individuals show hyperkinetic movement disorder with choreoathetosis, spasticity, rigidity, mental retardation, absent speech, and impaired volitional movements. {ECO:0000269 PubMed:27236917, ECO:0000269 PubMed:27239025}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with FRRS1L: view

No data available for Genatlas for FRRS1L Gene

Publications for FRRS1L Gene

  1. Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31. (PMID: 10603000) Chadwick BP … Slaugenhaupt SA (Mammalian genome : official journal of the International Mammalian Genome Society 2000) 2 3 4
  2. Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. (PMID: 27236917) Madeo M … Kruer MC (American journal of human genetics 2016) 3 4
  3. Epileptic encephalopathy with continuous spike-and-wave during sleep maps to a homozygous truncating mutation in AMPA receptor component FRRS1L. (PMID: 27239025) Shaheen R … Alkuraya FS (Clinical genetics 2016) 3 4
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for FRRS1L Gene

Sources for FRRS1L Gene