Lhfpl4 lipoma HMGIC fusion partner-like protein 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Lhfpl4provided by MGI
Official Full Name: lipoma HMGIC fusion partner-like protein 4provided by MGI
Primary source: MGI:MGI:3057108
See related: Ensembl:ENSMUSG00000042873 AllianceGenome:MGI:3057108
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: mKIAA4027; B230384L07; 1190004M23Rik
Summary: Enables GABA receptor binding activity. Involved in gamma-aminobutyric acid receptor clustering and regulation of inhibitory synapse assembly. Located in inhibitory synapse and postsynaptic membrane. Is expressed in brain; heart; intestine; lung; and reproductive system. Orthologous to human LHFPL4 (LHFPL tetraspan subfamily member 4). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in whole brain E14.5 (RPKM 16.6), CNS E18 (RPKM 16.3) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 E3; 6 52.74 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (113145048..113172345, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (113168087..113195384, complement)

Chromosome 6 - NC_000072.7 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: 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?

the essential role of LHFPL4/GARLH4 in brain functions by regulating inhibitory synapse formation as a major NL2 binding partner, is reported.
Title: Impairment of Inhibitory Synapse Formation and Motor Behavior in Mice Lacking the NL2 Binding Partner LHFPL4/GARLH4.
The results establish LHFPL4 as a synapse-specific tetraspanin essential for inhibitory synapse function and provide fresh insights into the molecular make-up of inhibitory synapses.
Title: An Essential Role for the Tetraspanin LHFPL4 in the Cell-Type-Specific Targeting and Clustering of Synaptic GABA(A) Receptors.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Targeted (1) 1 citation
Endonuclease-mediated (8) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GABA receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables GABA receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables GABA receptor binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in gamma-aminobutyric acid receptor clustering	IBA Inferred from Biological aspect of Ancestor more info
involved_in gamma-aminobutyric acid receptor clustering	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within nervous system development	IEA Inferred from Electronic Annotation more info
involved_in neurotransmitter receptor localization to postsynaptic specialization membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in neurotransmitter receptor localization to postsynaptic specialization membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of inhibitory synapse assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of sound	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in GABA-ergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in GABA-ergic synapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in GABA-ergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in inhibitory synapse	IBA Inferred from Biological aspect of Ancestor more info
located_in inhibitory synapse	IDA Inferred from Direct Assay more info	PubMed
located_in inhibitory synapse	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in postsynaptic membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic membrane	IDA Inferred from Direct Assay more info	PubMed
located_in postsynaptic membrane	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in postsynaptic specialization	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic specialization	IEP Inferred from Expression Pattern more info	PubMed
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: LHFPL tetraspan subfamily member 4 protein

Names: GABAA receptor regulatory Lhfpl4; lipoma HMGIC fusion partner-like 4 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.