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

Gene ID: 23732, updated on 18-Sep-2024

Summary

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

See FRRS1L in Genome Data Viewer
Location:
9q31.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (109130293..109167249, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (121299358..121336331, complement)
RS_2024_09 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

Expression

  • Project title: HPA RNA-seq normal tissues 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

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_014334.4NP_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:94253
    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_2024_08

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)