Elfn1 leucine rich repeat and fibronectin type III, extracellular 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Elfn1provided by MGI
Official Full Name: leucine rich repeat and fibronectin type III, extracellular 1provided by MGI
Primary source: MGI:MGI:2442479
See related: Ensembl:ENSMUSG00000048988 AllianceGenome:MGI:2442479
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: Ppp1r28; A930017N06Rik
Summary: Predicted to enable protein phosphatase inhibitor activity. Involved in synapse organization. Located in dendrite and excitatory synapse. Is expressed in several structures, including adrenal gland; eye; gut; male reproductive gland or organ; and nervous system. Orthologous to human ELFN1 (extracellular leucine rich repeat and fibronectin type III domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in adrenal adult (RPKM 19.8), testis adult (RPKM 15.6) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 G2; 5 78.81 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (139893346..139960480)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (139907591..139974725)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

Complex N-glycosylation of mGluR6 is required for trans-synaptic interaction with ELFN adhesion proteins.
Title: Complex N-glycosylation of mGluR6 is required for trans-synaptic interaction with ELFN adhesion proteins.
A transsynaptic interaction between Elfn1 and mGluR7 constitutively reduces initial release probability onto mouse cortical SOM neurons. Elfn1 produces glutamate-independent activation of mGluR7 via presynaptic clustering, resulting in a divergence from the canonical "autoreceptor" role of Type III mGluRs, and substantially altering synaptic pharmacology.
Title: Elfn1-Induced Constitutive Activation of mGluR7 Determines Frequency-Dependent Recruitment of Somatostatin Interneurons.
Elfn1 protein increases during postnatal development and localizes to postsynaptic sites of somatostatin-containing interneurons in the hippocampal CA1 stratum oriens and dentate gyrus hilus.Elfn1 recruits mGluR7 to synaptic sites.
Title: Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures.
Mutation of Elfn1 in mice causes seizures and hyperactivity.
Title: Mutation of Elfn1 in mice causes seizures and hyperactivity.
postsynaptic expression of Elfn1 in oriens-lacunosum moleculare interneurons regulates presynaptic release probability, which confers target-specific synaptic properties to pyramidal cell axons.
Title: Elfn1 regulates target-specific release probability at CA1-interneuron synapses.

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Variation

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Alleles

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

Endonuclease-mediated (3)
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH135954 (e-PCR)
- UniSTS:209950

D5Dcr2 (e-PCR), detects polymorphism
- UniSTS:479719

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein phosphatase inhibitor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within synapse assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synapse organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic membrane adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in synaptic membrane adhesion	IEP Inferred from Expression Pattern more info	PubMed
involved_in synaptic membrane adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within synaptic signaling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within visual perception	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in axon terminus	IDA Inferred from Direct Assay more info	PubMed
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in excitatory synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in postsynaptic density membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic density membrane	IEP Inferred from Expression Pattern more info	PubMed
is_active_in postsynaptic density membrane	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in synapse	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein ELFN1

Names: extracellular leucine-rich repeat and fibronectin type-III domain-containing protein 1; protein phosphatase 1 regulatory subunit 28

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_001384186.1 → NP_001371115.1 protein ELFN1 isoform 1 precursor

Status: VALIDATED

Source sequence(s)

AC130221, AC145748

UniProtKB/Swiss-Prot

Q8C8T7

Conserved Domains (3) summary

smart00082
Location:190 → 228

LRRCT; Leucine rich repeat C-terminal domain

sd00031
Location:65 → 85

LRR_1; leucine-rich repeat [structural motif]

pfam13855
Location:85 → 144

LRR_8; Leucine rich repeat
NM_175522.4 → NP_780731.1 protein ELFN1 isoform 1 precursor

See identical proteins and their annotated locations for NP_780731.1

Status: VALIDATED

Source sequence(s)

AC130221, AC145748

Consensus CDS

CCDS19816.1

UniProtKB/Swiss-Prot

Q8C8T7

Related

ENSMUSP00000053869.7, ENSMUST00000050519.8

Conserved Domains (3) summary

smart00082
Location:190 → 228

LRRCT; Leucine rich repeat C-terminal domain

sd00031
Location:65 → 85

LRR_1; leucine-rich repeat [structural motif]

pfam13855
Location:85 → 144

LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

139893346..139960480

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017320882.2 → XP_017176371.1 protein ELFN1 isoform X1

UniProtKB/Swiss-Prot

Q8C8T7

Conserved Domains (3) summary

smart00082
Location:190 → 228

LRRCT; Leucine rich repeat C-terminal domain

sd00031
Location:65 → 85

LRR_1; leucine-rich repeat [structural motif]

pfam13855
Location:85 → 144

LRR_8; Leucine rich repeat
XM_006504704.5 → XP_006504767.1 protein ELFN1 isoform X1

See identical proteins and their annotated locations for XP_006504767.1

UniProtKB/Swiss-Prot

Q8C8T7

Conserved Domains (3) summary

smart00082
Location:190 → 228

LRRCT; Leucine rich repeat C-terminal domain

sd00031
Location:65 → 85

LRR_1; leucine-rich repeat [structural motif]

pfam13855
Location:85 → 144

LRR_8; Leucine rich repeat
XM_006504703.4 → XP_006504766.1 protein ELFN1 isoform X1

See identical proteins and their annotated locations for XP_006504766.1

UniProtKB/Swiss-Prot

Q8C8T7

Conserved Domains (3) summary

smart00082
Location:190 → 228

LRRCT; Leucine rich repeat C-terminal domain

sd00031
Location:65 → 85

LRR_1; leucine-rich repeat [structural motif]

pfam13855
Location:85 → 144

LRR_8; Leucine rich repeat
XM_030254504.2 → XP_030110364.1 protein ELFN1 isoform X1

UniProtKB/Swiss-Prot

Q8C8T7

Conserved Domains (3) summary

smart00082
Location:190 → 228

LRRCT; Leucine rich repeat C-terminal domain

sd00031
Location:65 → 85

LRR_1; leucine-rich repeat [structural motif]

pfam13855
Location:85 → 144

LRR_8; Leucine rich repeat
XM_006504702.4 → XP_006504765.1 protein ELFN1 isoform X1

See identical proteins and their annotated locations for XP_006504765.1

UniProtKB/Swiss-Prot

Q8C8T7

Conserved Domains (3) summary

smart00082
Location:190 → 228

LRRCT; Leucine rich repeat C-terminal domain

sd00031
Location:65 → 85

LRR_1; leucine-rich repeat [structural motif]

pfam13855
Location:85 → 144

LRR_8; Leucine rich repeat