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FRRS1L ferric chelate reductase 1 like [ Homo sapiens (human) ]

Gene ID: 23732, updated on 5-Mar-2024

Summary

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Official Symbol
FRRS1Lprovided by HGNC
Official Full Name
ferric chelate reductase 1 likeprovided by HGNC
Primary source
HGNC:HGNC:1362
See related
Ensembl:ENSG00000260230 MIM:604574; AllianceGenome:HGNC:1362
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CG6; CG-6; DEE37; C9orf4; EIEE37
Summary
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]
Expression
Biased expression in brain (RPKM 11.1), ovary (RPKM 3.9) and 4 other tissues See more
Orthologs
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Genomic context

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See FRRS1L in Genome Data Viewer
Location:
9q31.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (109130293..109167249, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (121299358..121336331, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (111892573..111929529, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene catenin alpha like 1 Neighboring gene uncharacterized LOC105376216 Neighboring gene RNA, 5.8S ribosomal pseudogene 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:111774967-111775470 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:111798078-111799277 Neighboring gene transmembrane protein 245 Neighboring gene microRNA 32 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28758 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20164 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20163 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20162 Neighboring gene Sharpr-MPRA regulatory region 1434 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:111947797-111948296 Neighboring gene erythrocyte membrane protein band 4.1 like 4B Neighboring gene RNA, U6 small nuclear 984, pseudogene Neighboring gene MT-ND2 pseudogene 11

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements. Abdelmoumen I, et al. J Child Neurol, 2021 Feb. PMID 32928027, Free PMC Article
  2. Epileptic encephalopathy with continuous spike-and-wave during sleep maps to a homozygous truncating mutation in AMPA receptor component FRRS1L. Shaheen R, et al. Clin Genet, 2016 Sep. PMID 27239025
  3. Movement disorder caused by FRRS1L deficiency may be associated with morphological and functional disorders in Purkinje cells. Wang R, et al. Brain Res Bull, 2022 Dec. PMID 36330921
  4. Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31. Chadwick BP, et al. Mamm Genome, 2000 Jan. PMID 10603000
  5. Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. Madeo M, et al. Am J Hum Genet, 2016 Jun 2. PMID 27236917, Free PMC Article

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Continuous Spikes and Waves During Sleep (CSWS), Severe Epileptic Encephalopathy, and Choreoathetosis due to Mutations in FRRS1L.
    Title: Continuous Spikes and Waves During Sleep (CSWS), Severe Epileptic Encephalopathy, and Choreoathetosis due to Mutations in FRRS1L.
  2. Movement disorder caused by FRRS1L deficiency may be associated with morphological and functional disorders in Purkinje cells.
    Title: Movement disorder caused by FRRS1L deficiency may be associated with morphological and functional disorders in Purkinje cells.
  3. Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements.
    Title: Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements.
  4. Loss-of-Function Mutations in FRRS1L gene is associated with Epileptic-Dyskinetic Encephalopathy.
    Title: Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Developmental and epileptic encephalopathy, 37
MedGen: C4310770 OMIM: 616981 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables dynein intermediate chain binding IEA
Inferred from Electronic Annotation
more info
  
enables molecular_function ND
No biological Data available
more info
  
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in regulation of AMPA glutamate receptor clustering IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of glutamate receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of glutamate receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of synaptic transmission, glutamatergic IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  
located_in synapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
DOMON domain-containing protein FRRS1L
Names
brain protein CG-6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051235.1 RefSeqGene

    Range
    5043..41999
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014334.4 → NP_055149.3  DOMON domain-containing protein FRRS1L precursor

    Status: REVIEWED

    Source sequence(s)
    AL358815
    Consensus CDS
    CCDS35098.2
    UniProtKB/Swiss-Prot
    Q5T4G4, Q9P0K9
    Related
    ENSP00000477141.2, ENST00000561981.5
    Conserved Domains (1) summary
    cd09628
    Location:94 → 253
    DOMON_SDR_2_like; DOMON domain of stromal cell-derived receptor 2 (ferric chelate reductase 1) and related proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    109130293..109167249 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    121299358..121336331 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9P0K9.3 GenPept UniProtKB/Swiss-Prot:Q9P0K9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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