LRRC52 leucine rich repeat containing 52 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LRRC52provided by HGNC
Official Full Name: leucine rich repeat containing 52provided by HGNC
Primary source: HGNC:HGNC:32156
See related: Ensembl:ENSG00000162763 MIM:615218; AllianceGenome:HGNC:32156
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Enables potassium channel activator activity; transmembrane transporter binding activity; and voltage-gated potassium channel activity. Involved in positive regulation of voltage-gated potassium channel activity and potassium ion transmembrane transport. Part of voltage-gated potassium channel complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward testis (RPKM 7.8) See more
Orthologs: mouse all
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Genomic context

Location:: 1q24.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (165544000..165563957)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (164890480..164910436)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (165513237..165533194)

Chromosome 1 - NC_000001.11 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: 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?

LRRC52 is likely a functional component of human KSperdagger.
Title: LRRC52 is likely a functional component of human KSper†.
Suggest that BK channel modulation by auxiliary gamma subunits depends on intra- and/or juxta-membrane mechanisms.
Title: Molecular basis for differential modulation of BK channel voltage-dependent gating by auxiliary γ subunits.
Observational study of gene-disease association. (HuGE Navigator)
Title: Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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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Markers

D1S2197 (e-PCR)
- UniSTS:59475

RH99273 (e-PCR)
- UniSTS:88251

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables potassium channel activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables potassium channel activator activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter binding	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed
enables voltage-gated potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables voltage-gated potassium channel activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of voltage-gated potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
involved_in potassium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
part_of voltage-gated potassium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of voltage-gated potassium channel complex	IDA Inferred from Direct Assay more info	PubMed

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_001005214.4 → NP_001005214.2 leucine-rich repeat-containing protein 52 precursor

See identical proteins and their annotated locations for NP_001005214.2

Status: VALIDATED

Source sequence(s)

AL157714

Consensus CDS

CCDS30930.1

UniProtKB/Swiss-Prot

A2RUN7, Q5T9K5, Q8N7C0

Related

ENSP00000294818.2, ENST00000294818.2

Conserved Domains (4) summary

PRK15387
Location:2 → 93

PRK15387; type III secretion system effector E3 ubiquitin transferase SspH2

smart00013
Location:26 → 55

LRRNT; Leucine rich repeat N-terminal domain

sd00033
Location:35 → 54

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:79 → 136

LRR_8; Leucine rich repeat