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

Gene ID: 219927, updated on 2-Nov-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
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (68891278..68903832, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (68900447..68912961, complement)
RS_2024_09 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 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. MRPL21 promotes HCC proliferation through TP53 mutation-induced apoptotic resistance. Ma T, et al. Tissue Cell, 2024 Feb. PMID 38181584
  2. 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
  3. Evolution of a protein-rich mitochondrial ribosome: implications for human genetic disease. O'Brien TW. Gene, 2002 Mar 6. PMID 11943462
  4. GRSF1 regulates RNA processing in mitochondrial RNA granules. Jourdain AA, et al. Cell Metab, 2013 Mar 5. PMID 23473034, Free PMC Article
  5. 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

See all (60) 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)

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 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 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_2024_08

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

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