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

    Gene ID: 440699, updated on 10-Dec-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, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 7.8) See more
    Orthologs
    mouse all
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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
    • 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)

    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.

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