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

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: mouse all
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Genomic context

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_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements.
Title: Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables dynein intermediate chain binding	IEA Inferred from Electronic Annotation 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
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in postsynapse	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

NG_051235.1 RefSeqGene

Range

5043..41999

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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