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    MRPL21 mitochondrial ribosomal protein L21 [ Homo sapiens (human) ]

    Gene ID: 219927, updated on 5-Mar-2024

    Summary

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    Official Symbol
    MRPL21provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein L21provided by HGNC
    Primary source
    HGNC:HGNC:14479
    See related
    Ensembl:ENSG00000197345 MIM:611834; AllianceGenome:HGNC:14479
    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
    L21mt; bL21m; MRP-L21
    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. Multiple transcript variants encoding different isoforms were identified through sequence analysis although some may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in heart (RPKM 16.0), thyroid (RPKM 12.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MRPL21 in Genome Data Viewer
    Location:
    11q13.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (68891278..68903832, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (68900447..68912961, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (68658746..68671300, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902700 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3685 Neighboring gene long intergenic non-protein coding RNA 2701 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:68671173-68671900 Neighboring gene immunoglobulin mu DNA binding protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5147 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5148 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:68701479-68702678 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:68714105-68714968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5149 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68747435-68747944 Neighboring gene MAS related GPR family member D

    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. Identification of genomic biomarkers associated with the clinicopathological parameters and prognosis of esophageal squamous cell carcinoma. Shi ZZ, et al. Cancer Biomark, 2015. PMID 26406417
    2. Evolution of a protein-rich mitochondrial ribosome: implications for human genetic disease. O'Brien TW. Gene, 2002 Mar 6. PMID 11943462
    3. GRSF1 regulates RNA processing in mitochondrial RNA granules. Jourdain AA, et al. Cell Metab, 2013 Mar 5. PMID 23473034, Free PMC Article
    4. p32/gC1qR is indispensable for fetal development and mitochondrial translation: importance of its RNA-binding ability. Yagi M, et al. Nucleic Acids Res, 2012 Oct. PMID 22904065, Free PMC Article
    5. 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

    See all (54) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MRPL21 promotes HCC proliferation through TP53 mutation-induced apoptotic resistance.
      Title: MRPL21 promotes HCC proliferation through TP53 mutation-induced apoptotic resistance.
    2. High MRPL21 expression is associated with esophageal squamous cell carcinoma.
      Title: Identification of genomic biomarkers associated with the clinicopathological parameters and prognosis of esophageal squamous cell carcinoma.
    3. 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

    • MGC62013

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    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 IBA
    Inferred from Biological aspect of Ancestor
    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 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    large ribosomal subunit protein bL21m
    Names
    39S ribosomal protein L21, mitochondrial
    mitochondrial large ribosomal subunit protein bL21m

    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_181514.2 → NP_852615.1  large ribosomal subunit protein bL21m isoform d

      See identical proteins and their annotated locations for NP_852615.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) encodes the longest protein (isoform d).
      Source sequence(s)
      AK096756, BM916618
      Consensus CDS
      CCDS8186.1
      UniProtKB/Swiss-Prot
      A6NKU0, C9JPR2, Q7Z2W9
      Related
      ENSP00000354580.2, ENST00000362034.7
      Conserved Domains (1) summary
      pfam00829
      Location:96 → 198
      Ribosomal_L21p; Ribosomal prokaryotic L21 protein

    2. NM_181515.2 → NP_852616.1  large ribosomal subunit protein bL21m isoform a

      See identical proteins and their annotated locations for NP_852616.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) uses a different splice site in the 5' end, compared to variant 4, that likely leads to the use of a downstream start codon. The predicted protein (isoform a) is shorter than isoform d. The predicted ORF of this transcript has not been experimentally confirmed.
      Source sequence(s)
      AK096756, BM916618
      Consensus CDS
      CCDS44662.1
      Related
      ENSP00000389400.2, ENST00000450904.6
      Conserved Domains (1) summary
      pfam00829
      Location:17 → 94
      Ribosomal_L21p; Ribosomal prokaryotic L21 protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      68891278..68903832 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005273823.5 → XP_005273880.1  large ribosomal subunit protein bL21m isoform X1

      See identical proteins and their annotated locations for XP_005273880.1

      UniProtKB/TrEMBL
      B4DXI4
      Conserved Domains (1) summary
      pfam00829
      Location:102 → 179
      Ribosomal_L21p; Ribosomal prokaryotic L21 protein

    RNA

    1. XR_247190.5 RNA Sequence

      Related
      ENST00000541279.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      68900447..68912961 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367991.1 → XP_054223966.1  large ribosomal subunit protein bL21m isoform X1

      UniProtKB/TrEMBL
      B4DXI4

    RNA

    1. XR_008488360.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_181512.1: Suppressed sequence

      Description
      NM_181512.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.

    2. NM_181513.1: Suppressed sequence

      Description
      NM_181513.1: This RefSeq was permanently suppressed because its splicing pattern is predominantly found in cancerous tissues and contains non-consensus splice junctions.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z2W9.2 GenPept UniProtKB/Swiss-Prot:Q7Z2W9

    Gene LinkOut

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

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