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    LRRC58 leucine rich repeat containing 58 [ Homo sapiens (human) ]

    Gene ID: 116064, updated on 28-Oct-2024

    Summary

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    Official Symbol
    LRRC58provided by HGNC
    Official Full Name
    leucine rich repeat containing 58provided by HGNC
    Primary source
    HGNC:HGNC:26968
    See related
    Ensembl:ENSG00000163428 AllianceGenome:HGNC:26968
    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
    Predicted to be involved in signal transduction. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in adrenal (RPKM 14.9), thyroid (RPKM 10.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LRRC58 in Genome Data Viewer
    Location:
    3q13.33
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (120324509..120349354, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (123044047..123068908, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (120043356..120068201, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene G protein-coupled receptor 156 Neighboring gene uncharacterized LOC124909418 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:120032196-120032799 Neighboring gene PTOV1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20331 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14635 Neighboring gene uncharacterized LOC124906274 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:120085712-120086911 Neighboring gene butyrophilin like 12, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:120096604-120097210 Neighboring gene microRNA 198 Neighboring gene follistatin like 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. Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure. Lingappa JR, et al. PLoS One, 2011. PMID 22174851, Free PMC Article
    2. The genetic architecture of economic and political preferences. Benjamin DJ, et al. Proc Natl Acad Sci U S A, 2012 May 22. PMID 22566634, Free PMC Article
    3. Histone methyltransferase DOT1L coordinates AR and MYC stability in prostate cancer. Vatapalli R, et al. Nat Commun, 2020 Aug 19. PMID 32814769, Free PMC Article
    4. ARIH2 Is a Vif-Dependent Regulator of CUL5-Mediated APOBEC3G Degradation in HIV Infection. Hüttenhain R, et al. Cell Host Microbe, 2019 Jul 10. PMID 31253590, Free PMC Article
    5. Control of a neuronal morphology program by an RNA-binding zinc finger protein, Unkempt. Murn J, et al. Genes Dev, 2015 Mar 1. PMID 25737280, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    EBI GWAS Catalog

    Description
    Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.
    EBI GWAS Catalog
    The genetic architecture of economic and political preferences.
    EBI GWAS Catalog

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    leucine-rich repeat-containing protein 58

    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_001099678.2 → NP_001093148.1  leucine-rich repeat-containing protein 58

      See identical proteins and their annotated locations for NP_001093148.1

      Status: VALIDATED

      Source sequence(s)
      AC063952, BC013757
      Consensus CDS
      CCDS46892.1
      UniProtKB/Swiss-Prot
      Q96CX6
      Related
      ENSP00000295628.3, ENST00000295628.4
      Conserved Domains (4) summary
      cd00116
      Location:59 → 179
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:70 → 92
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:189 → 228
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:167 → 224
      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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      120324509..120349354 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447401.1 → XP_047303357.1  leucine-rich repeat-containing protein 58 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      123044047..123068908 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345139.1 → XP_054201114.1  leucine-rich repeat-containing protein 58 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96CX6.2 GenPept UniProtKB/Swiss-Prot:Q96CX6

    Gene LinkOut

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

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