Frrs1l ferric-chelate reductase 1 like [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Frrs1lprovided by MGI
Official Full Name: ferric-chelate reductase 1 likeprovided by MGI
Primary source: MGI:MGI:2442704
See related: Ensembl:ENSMUSG00000045589 AllianceGenome:MGI:2442704
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 6430704M03Rik
Summary: Enables dynein intermediate chain binding activity. Acts upstream of or within regulation of AMPA glutamate receptor clustering and regulation of glutamatergic synaptic transmission. Is active in endoplasmic reticulum membrane and postsynapse. Is expressed in several structures, including central nervous system; future brain; and male reproductive gland or organ. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 37. Orthologous to human FRRS1L (ferric chelate reductase 1 like). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in cerebellum adult (RPKM 20.2), cortex adult (RPKM 15.8) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 B3; 4 31.66 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (56957173..56990408, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (56960136..56990391, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Our results provide mechanistic insight into the stepwise biogenesis of AMPA-receptors in native endoplasmic reticulum membranes and establish FRRS1l as a powerful regulator of synaptic signaling and plasticity.
Title: An ER Assembly Line of AMPA-Receptors Controls Excitatory Neurotransmission and Its Plasticity.
Frrsl1 deletion results in an increased proportion of immature AMPA receptors, indicated by incomplete glycosylation of GLUA2 (also known as GRIA2) and GLUA4 (also known as GRIA4) AMPA receptor proteins.
Title: Loss of Frrs1l disrupts synaptic AMPA receptor function, and results in neurodevelopmental, motor, cognitive and electrographical abnormalities.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables dynein intermediate chain binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within regulation of AMPA glutamate receptor clustering	IMP Inferred from Mutant Phenotype more info	PubMed
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	ISO Inferred from Sequence Orthology more info
involved_in regulation of glutamate receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels	IEA Inferred from Electronic Annotation more info
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of synaptic transmission, glutamatergic	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum membrane	IEP Inferred from Expression Pattern more info	PubMed
is_active_in endoplasmic reticulum membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info	PubMed
is_active_in postsynapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in postsynapse	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: DOMON domain-containing protein FRRS1L

Names: ferric-chelate reductase 1-like protein

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.

mRNA and Protein(s)

NM_001142965.2 → NP_001136437.1 DOMON domain-containing protein FRRS1L precursor

See identical proteins and their annotated locations for NP_001136437.1

Status: VALIDATED

Source sequence(s)

AL831761, BX470220

Consensus CDS

CCDS51179.1

UniProtKB/Swiss-Prot

A3KMM1, B1AXV0, Q8BYS5

Related

ENSMUSP00000052507.6, ENSMUST00000053681.6

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