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

Gene ID: 440699, updated on 2-Nov-2024

Summary

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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
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Genomic context

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See LRRC52 in Genome Data Viewer
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_000001.11Genomic Context describing neighboring genes Neighboring gene LRRC52 antisense RNA 1 Neighboring gene PRELID1 pseudogene 7 Neighboring gene uncharacterized LOC124904448 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:165530147-165530676 Neighboring gene ribosomal protein S2 pseudogene 10 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:165565420-165565627 Neighboring gene tRNA-Lys (anticodon CTT) 13-1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. LRRC52 is likely a functional component of human KSper†. Zhang J, et al. Biol Reprod, 2024 Apr 11. PMID 38267364
  2. Molecular basis for differential modulation of BK channel voltage-dependent gating by auxiliary γ subunits. Li Q, et al. J Gen Physiol, 2015 Jun. PMID 26009545, Free PMC Article
  3. BK potassium channel modulation by leucine-rich repeat-containing proteins. Yan J, et al. Proc Natl Acad Sci U S A, 2012 May 15. PMID 22547800, Free PMC Article
  4. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. Cheung CL, et al. Hum Mol Genet, 2009 Feb 15. PMID 19064610
  5. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. Ehret GB, et al. Eur J Hum Genet, 2009 Dec. PMID 19536175, Free PMC Article

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. LRRC52 is likely a functional component of human KSperdagger.
    Title: LRRC52 is likely a functional component of human KSper†.
  2. 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.
  3. 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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ25811

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)

  1. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    165544000..165563957
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    164890480..164910436
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N7C0.2 GenPept UniProtKB/Swiss-Prot:Q8N7C0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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