Lrrc52 leucine rich repeat containing 52 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Lrrc52provided by MGI
Official Full Name: leucine rich repeat containing 52provided by MGI
Primary source: MGI:MGI:1924118
See related: Ensembl:ENSMUSG00000040485 AllianceGenome:MGI:1924118
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: 4930413P14Rik
Summary: Enables potassium channel activity. Acts upstream of or within establishment of localization in cell and potassium ion transport. Predicted to be located in plasma membrane. Predicted to be part of voltage-gated potassium channel complex. Orthologous to human LRRC52 (leucine rich repeat containing 52). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Restricted expression toward testis adult (RPKM 28.1) See more
Orthologs: human all
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Genomic context

Location:: 1 H2.3; 1 74.83 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (167273244..167294349, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (167445675..167466780, complement)

Chromosome 1 - NC_000067.7 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?

LRRC52 is a gamma2 subunit of Big conductance and voltage- and Ca(2+)-activated K(+) channel complexes
Title: Expression of the LRRC52 γ subunit (γ2) may provide Ca(2+)-independent activation of BK currents in mouse inner hair cells.
LRRC52 regulates BK channel function and localization in mouse cochlear inner hair cells.
Title: LRRC52 regulates BK channel function and localization in mouse cochlear inner hair cells.
These results establish a critical role of LRRC52 in KSPER channels and demonstrate that loss of a non-pore-forming auxiliary subunit results in severe fertility impairment.
Title: SLO3 auxiliary subunit LRRC52 controls gating of sperm KSPER currents and is critical for normal fertility.
LRRC52 and LRRC26 define a new family of auxiliary subunits capable of critically modifying the gating behavior of Slo family channels.
Title: LRRC52 (leucine-rich-repeat-containing protein 52), a testis-specific auxiliary subunit of the alkalization-activated Slo3 channel.

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Variation

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Alleles

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

Targeted (2) 1 citation

General gene information

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Markers

D1Mit109 (e-PCR), detects polymorphism
- UniSTS:116693

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables potassium channel activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables potassium channel activator activity	IEA Inferred from Electronic Annotation more info
enables potassium channel activator activity	ISO Inferred from Sequence Orthology more info
enables potassium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables transmembrane transporter binding	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane transporter binding	IEA Inferred from Electronic Annotation more info
enables transmembrane transporter binding	ISO Inferred from Sequence Orthology more info
enables voltage-gated potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables voltage-gated potassium channel activity	IEA Inferred from Electronic Annotation more info
enables voltage-gated potassium channel activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within establishment of localization in cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of voltage-gated potassium channel activity	ISO Inferred from Sequence Orthology more info
involved_in potassium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in potassium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within potassium ion transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within reproductive process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in plasma membrane	TAS Traceable Author Statement more info
part_of voltage-gated potassium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of voltage-gated potassium channel complex	IEA Inferred from Electronic Annotation more info
part_of voltage-gated potassium channel complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: leucine-rich repeat-containing protein 52

Names: BK channel auxiliary gamma subunit LRRC52; BK channel auxilliary gamma subunit LRRC52

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_001013382.3 → NP_001013400.1 leucine-rich repeat-containing protein 52 precursor

See identical proteins and their annotated locations for NP_001013400.1

Status: VALIDATED

Source sequence(s)

AC113970

Consensus CDS

CCDS15458.1

UniProtKB/Swiss-Prot

Q5M8M9

Related

ENSMUSP00000047213.5, ENSMUST00000036643.6

Conserved Domains (2) summary

sd00033
Location:56 → 78

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:79 → 136

LRR_8; Leucine rich repeat