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    RPL3L ribosomal protein L3 like [ Homo sapiens (human) ]

    Gene ID: 6123, updated on 2-Nov-2024

    Summary

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    Official Symbol
    RPL3Lprovided by HGNC
    Official Full Name
    ribosomal protein L3 likeprovided by HGNC
    Primary source
    HGNC:HGNC:10351
    See related
    Ensembl:ENSG00000140986 MIM:617416; AllianceGenome:HGNC:10351
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CMD2D
    Summary
    This gene encodes a protein that shares sequence similarity with ribosomal protein L3. The protein belongs to the L3P family of ribosomal proteins. Unlike the ubiquitous expression of ribosomal protein genes, this gene has a tissue-specific pattern of expression, with the highest levels of expression in skeletal muscle and heart. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in heart (RPKM 32.1), prostate (RPKM 5.1) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RPL3L in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (1943974..1954689, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (1963946..1975094, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1993975..2004690, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1961835-1962392 Neighboring gene heparan sulfate-glucosamine 3-sulfotransferase 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1968509-1969070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1969071-1969634 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1969635-1970196 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1970197-1970760 Neighboring gene Sharpr-MPRA regulatory region 1858 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1991100-1991989 Neighboring gene uncharacterized LOC124903625 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7010 Neighboring gene methionine sulfoxide reductase B1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2003405-2004394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2007755-2008596 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7011 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10241 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10242 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2012172-2013117 Neighboring gene NADH:ubiquinone oxidoreductase subunit B10 Neighboring gene small nucleolar RNA, H/ACA box 10 Neighboring gene ribosomal protein S2

    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. Exploring the Regulation and Function of Rpl3l in the Development of Early-Onset Dilated Cardiomyopathy and Congestive Heart Failure Using Systems Genetics Approach. Bajpai AK, et al. Genes (Basel), 2023 Dec 29. PMID 38254943, Free PMC Article
    2. A novel ribosomal protein L3-like gene (RPL3L) maps to the autosomal dominant polycystic kidney disease gene region. Van Raay TJ, et al. Genomics, 1996 Oct 15. PMID 8921388
    3. Generation of a transcriptional map for a 700-kb region surrounding the polycystic kidney disease type 1 (PKD1) and tuberous sclerosis type 2 (TSC2) disease genes on human chromosome 16p3.3. Burn TC, et al. Genome Res, 1996 Jun. PMID 8828041
    4. C1orf106 is a colitis risk gene that regulates stability of epithelial adherens junctions. Mohanan V, et al. Science, 2018 Mar 9. PMID 29420262, Free PMC Article
    5. Regulated release of L13a from the 60S ribosomal subunit as a mechanism of transcript-specific translational control. Mazumder B, et al. Cell, 2003 Oct 17. PMID 14567916

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Exploring the Regulation and Function of Rpl3l in the Development of Early-Onset Dilated Cardiomyopathy and Congestive Heart Failure Using Systems Genetics Approach.
      Title: Exploring the Regulation and Function of Rpl3l in the Development of Early-Onset Dilated Cardiomyopathy and Congestive Heart Failure Using Systems Genetics Approach.
    2. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
    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

    Associated conditions

    Description Tests
    Cardiomyopathy, dilated, 2D
    MedGen: C5543535 OMIM: 619371 GeneReviews: Not available
    		Compare labs

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural constituent of ribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural constituent of ribosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of myotube differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of striated muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in translation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of cytosolic large ribosomal subunit HDA PubMed 
    part_of cytosolic large ribosomal subunit IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane HDA PubMed 
    located_in ribosome TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ribosomal protein uL3-like
    Names
    60S ribosomal protein L3-like
    large ribosomal subunit protein uL3-like

    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_005061.3 → NP_005052.1  ribosomal protein uL3-like

      See identical proteins and their annotated locations for NP_005052.1

      Status: REVIEWED

      Source sequence(s)
      AC005363
      Consensus CDS
      CCDS10450.1
      UniProtKB/Swiss-Prot
      Q92901
      UniProtKB/TrEMBL
      B2R7Y3
      Related
      ENSP00000268661.7, ENST00000268661.8
      Conserved Domains (1) summary
      PTZ00103
      Location:1 → 398
      PTZ00103; 60S ribosomal protein L3; Provisional

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      1943974..1954689 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522571.3 → XP_011520873.1  ribosomal protein uL3-like isoform X1

      UniProtKB/TrEMBL
      B2R7Y3
      Conserved Domains (2) summary
      PTZ00103
      Location:6 → 403
      PTZ00103; 60S ribosomal protein L3; Provisional
      cl00324
      Location:12 → 378
      RplC; Ribosomal protein L3 [Translation, ribosomal structure and biogenesis]

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791799.1 Reference GRCh38.p14 PATCHES

      Range
      10122..21271 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333186.1 → XP_054189161.1  ribosomal protein uL3-like isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      1963946..1975094 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313574.1 → XP_054169549.1  ribosomal protein uL3-like isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92901.3 GenPept UniProtKB/Swiss-Prot:Q92901

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