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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
    mouse all
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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

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

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