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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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    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
    		Compare labs

    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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