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... See more...

Aliases for MRPS18C Gene

Aliases for MRPS18C Gene

  • Mitochondrial Ribosomal Protein S18C 2 3 5
  • Mitochondrial Small Ribosomal Subunit Protein BS18c 3 4
  • Mitochondrial Small Ribosomal Subunit Protein BS18m 3 4
  • 28S Ribosomal Protein S18-1, Mitochondrial 3 4
  • 28S Ribosomal Protein S18c, Mitochondrial 3 4
  • MRP-S18-1 3 4
  • MRP-S18-C 3 4
  • MRPS18-1 2 3
  • Mrps18-C 3 4
  • CGI-134 2 3
  • S18mt-C 3 4
  • Mitochondrial Small Ribosomal Subunit Protein BS18m-C 3
  • Mitochondrial Ribosomal Protein S18-1 3
  • FLJ11146 2
  • FLJ22967 2
  • MRPS18C 5

External Ids for MRPS18C Gene

Previous GeneCards Identifiers for MRPS18C Gene

  • GC04P084301
  • GC04P084670
  • GC04P084835
  • GC04P084734
  • GC04P084596
  • GC04P080119

Summaries for MRPS18C Gene

Entrez Gene Summary for MRPS18C Gene

  • 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]

GeneCards Summary for MRPS18C Gene

MRPS18C (Mitochondrial Ribosomal Protein S18C) is a Protein Coding gene. Diseases associated with MRPS18C include Hermansky-Pudlak Syndrome 4. Among its related pathways are Organelle biogenesis and maintenance and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome.

Additional gene information for MRPS18C Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPS18C Gene

Genomics for MRPS18C Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MRPS18C Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRPS18C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPS18C

Top Transcription factor binding sites by QIAGEN in the MRPS18C gene promoter:
  • AhR
  • AML1a
  • Arnt
  • FOXF2
  • GATA-1
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • p53
  • Pax-6

Genomic Locations for MRPS18C Gene

Genomic Locations for MRPS18C Gene
chr4:83,455,932-83,469,735
(GRCh38/hg38)
Size:
13,804 bases
Orientation:
Plus strand
chr4:84,377,085-84,390,888
(GRCh37/hg19)
Size:
13,804 bases
Orientation:
Plus strand

Genomic View for MRPS18C Gene

Genes around MRPS18C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPS18C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPS18C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPS18C Gene

Proteins for MRPS18C Gene

  • Protein details for MRPS18C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y3D5-RT18C_HUMAN
    Recommended name:
    28S ribosomal protein S18c, mitochondrial
    Protein Accession:
    Q9Y3D5

    Protein attributes for MRPS18C Gene

    Size:
    142 amino acids
    Molecular mass:
    15850 Da
    Quaternary structure:
    • Component of the mitochondrial small ribosomal subunit (mt-SSU). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins. bS18m has a zinc binding site.
    Miscellaneous:
    • There are 3 mitochondrial isoforms of bS18 in mammalia, localizing to 3 distinct sites in the mitoribosome. bS18m (bs18c, this protein) binds to the same site as bacterial bS18, mS40 (bS18b) binds to a novel location of the 28S small subunit, and mL66 (bS18a) binds to the 39S large subunit.

    Three dimensional structures from OCA and Proteopedia for MRPS18C Gene

neXtProt entry for MRPS18C Gene

Post-translational modifications for MRPS18C Gene

  • Ubiquitination at Lys125
  • Modification sites at PhosphoSitePlus

Other Protein References for MRPS18C Gene

No data available for DME Specific Peptides for MRPS18C Gene

Domains & Families for MRPS18C Gene

Gene Families for MRPS18C Gene

Protein Domains for MRPS18C Gene

InterPro:
Blocks:
  • Ribosomal protein S18
ProtoNet:

Suggested Antigen Peptide Sequences for MRPS18C Gene

GenScript: Design optimal peptide antigens:
  • 28S ribosomal protein S18-1, mitochondrial (RT18C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y3D5

UniProtKB/Swiss-Prot:

RT18C_HUMAN :
  • Belongs to the bacterial ribosomal protein bS18 family.
Family:
  • Belongs to the bacterial ribosomal protein bS18 family.
genes like me logo Genes that share domains with MRPS18C: view

Function for MRPS18C Gene

Phenotypes From GWAS Catalog for MRPS18C Gene

Gene Ontology (GO) - Molecular Function for MRPS18C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003735 structural constituent of ribosome IEA,NAS 11279123
GO:0070181 small ribosomal subunit rRNA binding IBA 21873635
genes like me logo Genes that share ontologies with MRPS18C: view
genes like me logo Genes that share phenotypes with MRPS18C: view

Animal Models for MRPS18C Gene

MGI Knock Outs for MRPS18C:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPS18C

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MRPS18C Gene

Localization for MRPS18C Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPS18C Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MRPS18C gene
Compartment Confidence
mitochondrion 5
extracellular 2
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for MRPS18C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005763 mitochondrial small ribosomal subunit IDA 11279123
GO:0005840 ribosome IEA --
genes like me logo Genes that share ontologies with MRPS18C: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MRPS18C Gene

Pathways & Interactions for MRPS18C Gene

genes like me logo Genes that share pathways with MRPS18C: view

Gene Ontology (GO) - Biological Process for MRPS18C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA,NAS 11279123
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPS18C: view

No data available for SIGNOR curated interactions for MRPS18C Gene

Drugs & Compounds for MRPS18C Gene

No Compound Related Data Available

Transcripts for MRPS18C Gene

mRNA/cDNA for MRPS18C Gene

4 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPS18C

Alternative Splicing Database (ASD) splice patterns (SP) for MRPS18C Gene

No ASD Table

Relevant External Links for MRPS18C Gene

GeneLoc Exon Structure for
MRPS18C

Expression for MRPS18C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MRPS18C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MRPS18C Gene

This gene is overexpressed in Liver (67.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPS18C Gene



Protein tissue co-expression partners for MRPS18C Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRPS18C

SOURCE GeneReport for Unigene cluster for MRPS18C Gene:

Hs.436161

Evidence on tissue expression from TISSUES for MRPS18C Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with MRPS18C: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MRPS18C Gene

Orthologs for MRPS18C Gene

This gene was present in the common ancestor of animals.

Orthologs for MRPS18C Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MRPS18C 30 31
  • 99.77 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MRPS18C 30
  • 90.31 (n)
Cow
(Bos Taurus)
Mammalia MRPS18C 30 31
  • 87.94 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mrps18c 30 17 31
  • 86.09 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mrps18c 30
  • 84.41 (n)
Oppossum
(Monodelphis domestica)
Mammalia MRPS18C 31
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MRPS18C 30 31
  • 65.64 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MRPS18C 31
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mrps18c 30
  • 64.81 (n)
Str.416 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.20569 30
Zebrafish
(Danio rerio)
Actinopterygii mrps18c 30 31
  • 64.69 (n)
OneToOne
Dr.14273 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12181 30
Fruit Fly
(Drosophila melanogaster)
Insecta mRpS18C 30 31
  • 53.76 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008773 30
  • 53.05 (n)
Worm
(Caenorhabditis elegans)
Secernentea T14B4.2 30 31
  • 57.25 (n)
OneToOne
Species where no ortholog for MRPS18C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MRPS18C Gene

ENSEMBL:
Gene Tree for MRPS18C (if available)
TreeFam:
Gene Tree for MRPS18C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPS18C: view image

Paralogs for MRPS18C Gene

genes like me logo Genes that share paralogs with MRPS18C: view

No data available for Paralogs for MRPS18C Gene

Variants for MRPS18C Gene

Additional dbSNP identifiers (rs#s) for MRPS18C Gene

Structural Variations from Database of Genomic Variants (DGV) for MRPS18C Gene

Variant ID Type Subtype PubMed ID
esv3601196 CNV loss 21293372
esv3601197 CNV loss 21293372
esv3893971 CNV gain 25118596
nsv829992 CNV loss 17160897
nsv829994 CNV loss 17160897

Variation tolerance for MRPS18C Gene

Residual Variation Intolerance Score: 57.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.30; 6.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPS18C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPS18C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPS18C Gene

Disorders for MRPS18C Gene

MalaCards: The human disease database

(1) MalaCards diseases for MRPS18C Gene - From: DISEASES

Disorder Aliases PubMed IDs
hermansky-pudlak syndrome 4
  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MRPS18C

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MRPS18C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MRPS18C Gene

Publications for MRPS18C Gene

  1. The small subunit of the mammalian mitochondrial ribosome. Identification of the full complement of ribosomal proteins present. (PMID: 11279123) Cavdar Koc E … Spremulli LL (The Journal of biological chemistry 2001) 2 3 4
  2. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 2 3 4
  3. Ribosome. The structure of the human mitochondrial ribosome. (PMID: 25838379) Amunts A … Ramakrishnan V (Science (New York, N.Y.) 2015) 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41

Products for MRPS18C Gene

  • Signalway Proteins for MRPS18C

Sources for MRPS18C Gene