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MRPS18C mitochondrial ribosomal protein S18C [ Homo sapiens (human) ]

Gene ID: 51023, updated on 27-Nov-2024

Summary

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Official Symbol
MRPS18Cprovided by HGNC
Official Full Name
mitochondrial ribosomal protein S18Cprovided by HGNC
Primary source
HGNC:HGNC:16633
See related
Ensembl:ENSG00000163319 MIM:611983; AllianceGenome:HGNC:16633
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
bS18m; CGI-134; S18mt-c; MRPS18-1; mrps18-c; MRP-S18-1; MRP-S18-c
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. Pseudogenes corresponding to this gene are found on chromosomes 8p, 12p, 15q, and 22q. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in kidney (RPKM 12.8), testis (RPKM 12.2) and 25 other tissues See more
Orthologs
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Genomic context

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See MRPS18C in Genome Data Viewer
Location:
4q21.23
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (83456058..83462298)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (86786125..86792364)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (84377211..84383451)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene C18orf21 pseudogene 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:84309555-84310754 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:84311240-84312057 Neighboring gene helicase, POLQ like Neighboring gene Sharpr-MPRA regulatory region 5990 Neighboring gene abraxas 1, BRCA1 A complex subunit Neighboring gene solute carrier family 25 member 14 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15542 Neighboring gene ribosomal protein L30 pseudogene 5

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. An innovative strategy to clone positive modifier genes of defects caused by mtDNA mutations: MRPS18C as suppressor gene of m.3946G>A mutation in MT-ND1 gene. Rodríguez-García ME, et al. Hum Genet, 2017 Jul. PMID 28526948
  2. Expression pattern of MRPS18 family genes in gliomas. Kovalevska LM, et al. Exp Oncol, 2021 Sep. PMID 34591434
  3. Ribosome. The structure of the human mitochondrial ribosome. Amunts A, et al. Science, 2015 Apr 3. PMID 25838379, Free PMC Article
  4. The small subunit of the mammalian mitochondrial ribosome. Identification of the full complement of ribosomal proteins present. Cavdar Koc E, et al. J Biol Chem, 2001 Jun 1. PMID 11279123
  5. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. Lai CH, et al. Genome Res, 2000 May. PMID 10810093, Free PMC Article

See all (42) 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. Overexpression of MRPS18C gene (that encode for bS18m protein) suppressed the molecular defects produced by this mtDNA mutation, recovering the complex I activity and reducing the reactive oxygen species produced by this complex to normal levels.
    Title: An innovative strategy to clone positive modifier genes of defects caused by mtDNA mutations: MRPS18C as suppressor gene of m.3946G>A mutation in MT-ND1 gene.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
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)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ11146, FLJ22967

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 NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
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 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 
part_of mitochondrial small ribosomal subunit NAS
Non-traceable Author Statement
more info
 PubMed 
located_in mitochondrion HTP PubMed 

General protein information

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Preferred Names
small ribosomal subunit protein bS18m
Names
28S ribosomal protein S18-1, mitochondrial
28S ribosomal protein S18c, mitochondrial
mitochondrial ribosomal protein S18-1
mitochondrial small ribosomal subunit protein bS18c
mitochondrial small ribosomal subunit protein bS18m
mitochondrial small ribosomal subunit protein bS18m-C
small ribosomal subunit protein bS18c

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_001297767.2 → NP_001284696.1  small ribosomal subunit protein bS18m isoform 2

    See identical proteins and their annotated locations for NP_001284696.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AC096768, CN262115
    Consensus CDS
    CCDS75159.1
    UniProtKB/TrEMBL
    D6RCM2, H0YAG5
    Related
    ENSP00000427169.1, ENST00000507019.5
    Conserved Domains (1) summary
    pfam01084
    Location:50 → 92
    Ribosomal_S18; Ribosomal protein S18

  2. NM_001297769.2 → NP_001284698.1  small ribosomal subunit protein bS18m isoform 3

    See identical proteins and their annotated locations for NP_001284698.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon in the central coding region, which leads to a frameshift, compared to variant 1. The encoded isoform (3) has a shorter and distinct C-terminus.
    Source sequence(s)
    AC096768, AF151892, BE874586, DA446717
    UniProtKB/TrEMBL
    H0Y9W2
    Related
    ENSP00000425268.1, ENST00000505719.1

  3. NM_001297770.2 → NP_001284699.1  small ribosomal subunit protein bS18m isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two consecutive exons in the central coding region, which leads to a frameshift, compared to variant 1. The encoded isoform (4) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC096768, AF151892, CA455563
    Consensus CDS
    CCDS77933.1
    UniProtKB/TrEMBL
    D6RE70
    Related
    ENSP00000426930.1, ENST00000507349.5

  4. NM_016067.4 → NP_057151.1  small ribosomal subunit protein bS18m isoform 1

    See identical proteins and their annotated locations for NP_057151.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC096768, AF151892
    Consensus CDS
    CCDS3604.1
    UniProtKB/Swiss-Prot
    Q9Y3D5
    Related
    ENSP00000295491.4, ENST00000295491.9
    Conserved Domains (1) summary
    pfam01084
    Location:70 → 120
    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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    83456058..83462298
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    86786125..86792364
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y3D5.1 GenPept UniProtKB/Swiss-Prot:Q9Y3D5

Gene LinkOut

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