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    MRPL20 mitochondrial ribosomal protein L20 [ Homo sapiens (human) ]

    Gene ID: 55052, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MRPL20provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein L20provided by HGNC
    Primary source
    HGNC:HGNC:14478
    See related
    Ensembl:ENSG00000242485 MIM:611833; AllianceGenome:HGNC:14478
    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
    L20mt; bL20m; MRP-L20
    Summary
    Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 21q. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
    Expression
    Ubiquitous expression in kidney (RPKM 36.6), fat (RPKM 35.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MRPL20 in Genome Data Viewer
    Location:
    1p36.33
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (1401909..1407293, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (833839..839223, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1337289..1342673, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NADH:ubiquinone oxidoreductase subunit B4 pseudogene 8 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1317401-1317943 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1317944-1318485 Neighboring gene cyclin L2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1328342-1328842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 69 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 70 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 71 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1335653-1336196 Neighboring gene MRPL20 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1341870-1342536 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:1342537-1343204 Neighboring gene RNA, 7SL, cytoplasmic 657, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:1343205-1343871 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1344795-1345682 Neighboring gene MRPL20 divergent transcript Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1345683-1346571 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1346572-1347459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17 Neighboring gene ANKRD65 antisense RNA 1 Neighboring gene ankyrin repeat domain 65

    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. Properties of the C-terminal tail of human mitochondrial inner membrane protein Oxa1L and its interactions with mammalian mitochondrial ribosomes. Haque ME, et al. J Biol Chem, 2010 Sep 3. PMID 20601428, Free PMC Article
    2. A Genome-wide CRISPR Death Screen Identifies Genes Essential for Oxidative Phosphorylation. Arroyo JD, et al. Cell Metab, 2016 Dec 13. PMID 27667664, Free PMC Article
    3. The large subunit of the mammalian mitochondrial ribosome. Analysis of the complement of ribosomal proteins present. Koc EC, et al. J Biol Chem, 2001 Nov 23. PMID 11551941
    4. The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders. Kenmochi N, et al. Genomics, 2001 Sep. PMID 11543634
    5. Structural compensation for the deficit of rRNA with proteins in the mammalian mitochondrial ribosome. Systematic analysis of protein components of the large ribosomal subunit from mammalian mitochondria. Suzuki T, et al. J Biol Chem, 2001 Jun 15. PMID 11279069

    See all (55) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    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

    • MGC4779, MGC74465

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables rRNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables structural constituent of ribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in mitochondrial translation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of mitochondrial large ribosomal subunit IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of mitochondrial large ribosomal subunit NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in mitochondrial ribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial ribosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    large ribosomal subunit protein bL20m
    Names
    39S ribosomal protein L20, mitochondrial
    mitochondrial large ribosomal subunit protein bL20m

    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_001318485.2 → NP_001305414.1  large ribosomal subunit protein bL20m isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 3' terminal exon, resulting in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus, and is shorter that isoform 1.
      Source sequence(s)
      AA824533, AL391244, BG700526, BM818788, DN990876
      Conserved Domains (1) summary
      pfam00453
      Location:13 → 93
      Ribosomal_L20; Ribosomal protein L20

    2. NM_017971.4 → NP_060441.2  large ribosomal subunit protein bL20m isoform 1

      See identical proteins and their annotated locations for NP_060441.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AW015403, BC009515, BG700526
      Consensus CDS
      CCDS26.1
      UniProtKB/Swiss-Prot
      B2RE41, B7Z746, Q9BYC9
      Related
      ENSP00000341082.7, ENST00000344843.12
      Conserved Domains (1) summary
      cd07026
      Location:13 → 118
      Ribosomal_L20; Ribosomal protein L20

    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
      1401909..1407293 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      833839..839223 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BYC9.1 GenPept UniProtKB/Swiss-Prot:Q9BYC9

    Gene LinkOut

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

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