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    LRRC55 leucine rich repeat containing 55 [ Homo sapiens (human) ]

    Gene ID: 219527, updated on 27-Nov-2024

    Summary

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    Official Symbol
    LRRC55provided by HGNC
    Official Full Name
    leucine rich repeat containing 55provided by HGNC
    Primary source
    HGNC:HGNC:32324
    See related
    Ensembl:ENSG00000183908 MIM:615213; AllianceGenome:HGNC:32324
    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
    Broad expression in brain (RPKM 2.8), lymph node (RPKM 1.5) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LRRC55 in Genome Data Viewer
    Location:
    11q12.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (57181953..57191717)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (57131394..57141139)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (56949427..56959191)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369309 Neighboring gene olfactory receptor family 5 subfamily AO member 1 pseudogene Neighboring gene olfactory receptor family 5 subfamily BP member 1 pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:56891940-56892583 Neighboring gene Sharpr-MPRA regulatory region 9255 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:56954263-56954427 Neighboring gene Sharpr-MPRA regulatory region 8342 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:56980775-56981308 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:56981309-56981843 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:57004366-57004998 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:57008040-57008806 Neighboring gene Sharpr-MPRA regulatory region 4343 Neighboring gene uncharacterized LOC107984364 Neighboring gene apelin receptor

    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. Upregulated LRRC55 promotes BK channel activation and aggravates cell injury in podocytes. Hu S, et al. J Exp Med, 2021 Mar 1. PMID 33346797, Free PMC Article
    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. Interferon-inducible cytoplasmic lncLrrc55-AS promotes antiviral innate responses by strengthening IRF3 phosphorylation. Zhou Y, et al. Cell Res, 2019 Aug. PMID 31213650, Free PMC Article
    4. 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
    5. Signal peptide prediction based on analysis of experimentally verified cleavage sites. Zhang Z, et al. Protein Sci, 2004 Oct. PMID 15340161, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Upregulated LRRC55 promotes BK channel activation and aggravates cell injury in podocytes.
      Title: Upregulated LRRC55 promotes BK channel activation and aggravates cell injury in podocytes.
    2. Interferon-inducible cytoplasmic lncLrrc55-AS promotes antiviral innate responses by strengthening IRF3 phosphorylation.
      Title: Interferon-inducible cytoplasmic lncLrrc55-AS promotes antiviral innate responses by strengthening IRF3 phosphorylation.
    3. 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.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13339, FLJ45686, DKFZp667D0425

    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 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 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 55
    Names
    BK channel auxiliary gamma subunit LRRC55
    BK channel auxilliary gamma snit LRRC55

    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_001005210.4 → NP_001005210.2  leucine-rich repeat-containing protein 55 precursor

      Status: VALIDATED

      Source sequence(s)
      AK023401, AK127591, AP001786
      Consensus CDS
      CCDS31539.2
      UniProtKB/Swiss-Prot
      A7E2U7, B2RN81, Q6ZSA7
      UniProtKB/TrEMBL
      A0A494C0H1
      Related
      ENSP00000419542.2, ENST00000497933.3
      Conserved Domains (4) summary
      PLN00113
      Location:47 → 201
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      sd00033
      Location:47 → 66
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:90 → 148
      LRR_8; Leucine rich repeat
      cl15307
      Location:196 → 247
      TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      57181953..57191717
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      57131394..57141139
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZSA7.3 GenPept UniProtKB/Swiss-Prot:Q6ZSA7

    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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