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

Gene ID: 55168, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (43671202..43687791, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (43499929..43516525, complement)
105.20220307 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 RNA polymerase I and III subunit C 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 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 ATAC-STARR-seq lymphoblastoid active region 24607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24610 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17239 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43639230-43639862 Neighboring gene DNA polymerase eta Neighboring gene MAD2L1 binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24612 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:43655287-43655898 Neighboring gene uncharacterized LOC124901320 Neighboring gene GTP binding protein 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:43670641-43671626 Neighboring gene radial spoke head component 9 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
  • 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 (51) 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 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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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_2023_10

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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