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    MRPS18A mitochondrial ribosomal protein S18A [ Homo sapiens (human) ]

    Gene ID: 55168, updated on 3-Nov-2024

    Summary

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    Official Symbol
    MRPS18Aprovided by HGNC
    Official Full Name
    mitochondrial ribosomal protein S18Aprovided by HGNC
    Primary source
    HGNC:HGNC:14515
    See related
    Ensembl:ENSG00000096080 MIM:611981; AllianceGenome:HGNC:14515
    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
    mL66; S18bmt; S18mt-a; MRPS18-3; HumanS18b; MRP-S18-3; MRP-S18-a
    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 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. A pseudogene corresponding to this gene is found on chromosome 3p. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]
    Expression
    Ubiquitous expression in colon (RPKM 16.1), prostate (RPKM 12.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MRPS18A in Genome Data Viewer
    Location:
    6p21.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (43671202..43687791, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (43499929..43516525, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (43638939..43655528, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43545520-43546020 Neighboring gene DNA polymerase eta Neighboring gene ReSE screen-validated silencer GRCh37_chr6:43579698-43579923 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17238 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24605 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24606 Neighboring gene GTP binding protein 2 Neighboring gene MAD2L1 binding protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43604555-43605342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43605343-43606129 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:43612192-43612380 Neighboring gene radial spoke head component 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24611 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17239 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43639230-43639862 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24612 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:43655287-43655898 Neighboring gene uncharacterized LOC124901320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:43670641-43671626 Neighboring gene EXOSC8 pseudogene 1

    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. Upregulation of Mrps18a in breast cancer identified by selecting phage antibody libraries on breast tissue sections. Sørensen KM, et al. BMC Cancer, 2017 Jan 5. PMID 28056857, Free PMC Article
    2. Long Noncoding RNA TRIM52-AS1 Sponges miR-514a-5p to Facilitate Hepatocellular Carcinoma Progression Through Increasing MRPS18A. Zhou C, et al. Cancer Biother Radiopharm, 2021 Mar. PMID 32391716
    3. Expression pattern of MRPS18 family genes in gliomas. Kovalevska LM, et al. Exp Oncol, 2021 Sep. PMID 34591434
    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. Ribosome. The structure of the human mitochondrial ribosome. Amunts A, et al. Science, 2015 Apr 3. PMID 25838379, Free PMC Article

    See all (57) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expression pattern of MRPS18 family genes in gliomas.
      Title: Expression pattern of MRPS18 family genes in gliomas.
    2. Long Noncoding RNA TRIM52-AS1 Sponges miR-514a-5p to Facilitate Hepatocellular Carcinoma Progression Through Increasing MRPS18A.
      Title: Long Noncoding RNA TRIM52-AS1 Sponges miR-514a-5p to Facilitate Hepatocellular Carcinoma Progression Through Increasing MRPS18A.
    3. We identified the mitochondrial protein Mrps18a as being upregulated in human breast cancer cells compared to normal breast cells.
      Title: Upregulation of Mrps18a in breast cancer identified by selecting phage antibody libraries on breast tissue sections.
    4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    5. 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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10548

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables small ribosomal subunit rRNA 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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables structural constituent of ribosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial translation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in mitochondrial translation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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
    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 
    part_of mitochondrial small ribosomal subunit IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of mitochondrial small ribosomal subunit 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 mL66
    Names
    28S ribosomal protein S18-3, mitochondrial
    28S ribosomal protein S18a, mitochondrial
    39S ribosomal protein S18-3, mitochondrial
    39S ribosomal protein S18a, mitochondrial
    large ribosomal subunit protein bS18a
    mitochondrial large ribosomal subunit protein bS18a
    mitochondrial large ribosomal subunit protein bS18m-A
    mitochondrial large ribosomal subunit protein mL66
    mitochondrial ribosomal protein S18-3

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001193343.2 → NP_001180272.1  large ribosomal subunit protein mL66 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001180272.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region which results in a frameshift compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK300757, AL136131
      Consensus CDS
      CCDS55006.1
      UniProtKB/Swiss-Prot
      Q9NVS2
      Related
      ENSP00000361188.1, ENST00000372116.5
      Conserved Domains (1) summary
      pfam01084
      Location:78 → 126
      Ribosomal_S18; Ribosomal protein S18

    2. NM_018135.4 → NP_060605.1  large ribosomal subunit protein mL66 isoform 1 precursor

      See identical proteins and their annotated locations for NP_060605.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
      Source sequence(s)
      AL136131, BC010364, CA420521
      Consensus CDS
      CCDS4906.1
      UniProtKB/Swiss-Prot
      A6XND3, Q5QPA4, Q9NVS2
      Related
      ENSP00000361206.3, ENST00000372133.8
      Conserved Domains (1) summary
      pfam01084
      Location:78 → 128
      Ribosomal_S18; Ribosomal protein S18

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      43671202..43687791 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006715134.4 → XP_006715197.1  large ribosomal subunit protein mL66 isoform X1

      See identical proteins and their annotated locations for XP_006715197.1

      UniProtKB/TrEMBL
      Q5QPA5
      Related
      ENSP00000398679.1, ENST00000427312.1
      Conserved Domains (1) summary
      pfam01084
      Location:78 → 126
      Ribosomal_S18; Ribosomal protein S18

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      43499929..43516525 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355773.1 → XP_054211748.1  large ribosomal subunit protein mL66 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NVS2.1 GenPept UniProtKB/Swiss-Prot:Q9NVS2

    Gene LinkOut

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