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

Gene ID: 55052, updated on 2-Nov-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
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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

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