Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18E family of ribosomal proteins that is a component of the 60S subunit. As is typical for genes encoding ribosomal protein... See more...

Aliases for RPL18 Gene

Aliases for RPL18 Gene

  • Ribosomal Protein L18 2 3 5
  • 60S Ribosomal Protein L18 2 3 4
  • Large Ribosomal Subunit Protein EL18 3 4
  • L18 2 3
  • DBA18 3
  • RPL18 5

External Ids for RPL18 Gene

Previous GeneCards Identifiers for RPL18 Gene

  • GC19M049758
  • GC19M049486
  • GC19M053790
  • GC19M053810
  • GC19M053649
  • GC19M049118
  • GC19M045500

Summaries for RPL18 Gene

Entrez Gene Summary for RPL18 Gene

  • Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18E family of ribosomal proteins that is a component of the 60S subunit. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

GeneCards Summary for RPL18 Gene

RPL18 (Ribosomal Protein L18) is a Protein Coding gene. Diseases associated with RPL18 include Diamond-Blackfan Anemia 18 and Diamond-Blackfan Anemia. Among its related pathways are rRNA processing in the nucleus and cytosol and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include RNA binding and structural constituent of ribosome.

UniProtKB/Swiss-Prot Summary for RPL18 Gene

Gene Wiki entry for RPL18 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RPL18 Gene

Genomics for RPL18 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RPL18 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 RPL18 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RPL18

Top Transcription factor binding sites by QIAGEN in the RPL18 gene promoter:
  • ATF-2
  • c-Jun
  • COUP
  • COUP-TF
  • COUP-TF1
  • CREB
  • deltaCREB
  • HNF-4alpha1
  • HNF-4alpha2

Genomic Locations for RPL18 Gene

Genomic Locations for RPL18 Gene
chr19:48,615,328-48,619,184
(GRCh38/hg38)
Size:
3,857 bases
Orientation:
Minus strand
chr19:49,118,585-49,122,793
(GRCh37/hg19)
Size:
4,209 bases
Orientation:
Minus strand

Genomic View for RPL18 Gene

Genes around RPL18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPL18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPL18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPL18 Gene

Proteins for RPL18 Gene

  • Protein details for RPL18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q07020-RL18_HUMAN
    Recommended name:
    60S ribosomal protein L18
    Protein Accession:
    Q07020
    Secondary Accessions:
    • F8VWC5
    • Q8WTZ6

    Protein attributes for RPL18 Gene

    Size:
    188 amino acids
    Molecular mass:
    21634 Da
    Quaternary structure:
    • Component of the large ribosomal subunit.

    Three dimensional structures from OCA and Proteopedia for RPL18 Gene

    Alternative splice isoforms for RPL18 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RPL18 Gene

Post-translational modifications for RPL18 Gene

  • Ubiquitination at Lys49, Lys78, Lys99, Lys119, Lys132, Lys154, and Lys164
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for RPL18

No data available for DME Specific Peptides for RPL18 Gene

Domains & Families for RPL18 Gene

Gene Families for RPL18 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Ribosomal proteins

Protein Domains for RPL18 Gene

InterPro:
Blocks:
  • Ribosomal protein L18e
ProtoNet:

Suggested Antigen Peptide Sequences for RPL18 Gene

GenScript: Design optimal peptide antigens:
  • Ribosomal protein L18 (E7EW92_HUMAN)
  • Ribosomal protein L18 (Q0QEW2_HUMAN)
  • 60S ribosomal protein L18 (RL18_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q07020

UniProtKB/Swiss-Prot:

RL18_HUMAN :
  • Belongs to the eukaryotic ribosomal protein eL18 family.
Family:
  • Belongs to the eukaryotic ribosomal protein eL18 family.
genes like me logo Genes that share domains with RPL18: view

Function for RPL18 Gene

Molecular function for RPL18 Gene

UniProtKB/Swiss-Prot Function:
Component of the large ribosomal subunit.
GENATLAS Biochemistry:
60S ribosomal protein L18,21kDa

Phenotypes From GWAS Catalog for RPL18 Gene

Gene Ontology (GO) - Molecular Function for RPL18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding TAS,IBA 21873635
GO:0003735 structural constituent of ribosome IEA,NAS 12962325
genes like me logo Genes that share ontologies with RPL18: view
genes like me logo Genes that share phenotypes with RPL18: view

Human Phenotype Ontology for RPL18 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RPL18

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RPL18 Gene

Localization for RPL18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RPL18 Gene

Cytoplasm, cytosol. Cytoplasm. Rough endoplasmic reticulum. Note=Detected on cytosolic polysomes (PubMed:25957688). Detected in ribosomes that are associated with the rough endoplasmic reticulum (By similarity). {ECO:0000250 UniProtKB:Q95342, ECO:0000269 PubMed:25957688}.

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 RPL18 gene
Compartment Confidence
nucleus 5
cytosol 5
endoplasmic reticulum 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Endoplasmic reticulum (2)
  • Nucleoli (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RPL18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IDA --
GO:0005791 rough endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with RPL18: view

Pathways & Interactions for RPL18 Gene

genes like me logo Genes that share pathways with RPL18: view

Pathways by source for RPL18 Gene

1 KEGG pathway for RPL18 Gene
1 GeneGo (Thomson Reuters) pathway for RPL18 Gene
  • CFTR translational fidelity (class I mutations)

Gene Ontology (GO) - Biological Process for RPL18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS --
GO:0002181 cytoplasmic translation IDA 25957688
GO:0006412 translation IEA,NAS 12962325
GO:0006413 translational initiation TAS --
GO:0006614 SRP-dependent cotranslational protein targeting to membrane TAS --
genes like me logo Genes that share ontologies with RPL18: view

No data available for SIGNOR curated interactions for RPL18 Gene

Drugs & Compounds for RPL18 Gene

(1) Drugs for RPL18 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dihydroartemisinin Experimental, Investigational Pharma Target, ligand 115
genes like me logo Genes that share compounds with RPL18: view

Transcripts for RPL18 Gene

mRNA/cDNA for RPL18 Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
16 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 RPL18

Alternative Splicing Database (ASD) splice patterns (SP) for RPL18 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8
SP1: - -
SP2: - -
SP3: -
SP4: -
SP5: -

Relevant External Links for RPL18 Gene

GeneLoc Exon Structure for
RPL18

Expression for RPL18 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RPL18 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RPL18 Gene

This gene is overexpressed in Tlymphocyte (10.8) and Nasal epithelium (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RPL18 Gene



Protein tissue co-expression partners for RPL18 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RPL18

SOURCE GeneReport for Unigene cluster for RPL18 Gene:

Hs.515517

Evidence on tissue expression from TISSUES for RPL18 Gene

  • Nervous system(5)
  • Lung(4.9)
  • Intestine(4.9)
  • Liver(4.9)
  • Blood(4.7)
  • Pancreas(4.7)
  • Skin(4.5)
  • Eye(4.2)
  • Muscle(3.7)
  • Kidney(3.5)
  • Heart(3.4)
  • Stomach(3.3)
  • Bone marrow(3.2)
  • Lymph node(3.2)
  • Spleen(3.1)
  • Thyroid gland(2.7)
  • Adrenal gland(2.7)
  • Gall bladder(2.6)
  • Bone(2.3)
genes like me logo Genes that share expression patterns with RPL18: 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 RPL18 Gene

Orthologs for RPL18 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RPL18 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RPL18 30 31
  • 98.58 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RPL18 31
  • 94 (a)
OneToMany
-- 31
  • 67 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia RPL18 30 31
  • 90.78 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RPL18 30 31
  • 90.25 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RPL18 31
  • 90 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Rpl18 30 17 31
  • 88.65 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rpl18 30
  • 88.48 (n)
Lizard
(Anolis carolinensis)
Reptilia RPL18 31
  • 88 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rpl18 30
  • 74.11 (n)
Zebrafish
(Danio rerio)
Actinopterygii rpl18 30 31
  • 75.43 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8673 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG8615 32
  • 69 (a)
RpL18 30 31
  • 62.29 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta RL18_ANOGA 30
  • 65.07 (n)
Worm
(Caenorhabditis elegans)
Secernentea rpl-18 30 31 32
  • 58.87 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPL18A 31 33
  • 55 (a)
OneToMany
RPL18B 30 31 33
  • 54.07 (n)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADL157C 30
  • 54.07 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A07227g 30
  • 51.55 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons RPL18 30
  • 58.57 (n)
Soybean
(Glycine max)
eudicotyledons Gma.1197 30
Rice
(Oryza sativa)
Liliopsida Os05g0155100 30
  • 61.3 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.12865 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4938 31
  • 73 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU03988 30
  • 63.53 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rpl1802 30
  • 56.98 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4926 30
Species where no ortholog for RPL18 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RPL18 Gene

ENSEMBL:
Gene Tree for RPL18 (if available)
TreeFam:
Gene Tree for RPL18 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RPL18: view image

Paralogs for RPL18 Gene

(1) SIMAP similar genes for RPL18 Gene using alignment to 9 proteins:

  • RL18_HUMAN
  • F8VUA6_HUMAN
  • F8VWC5_HUMAN
  • F8VXR6_HUMAN
  • F8VYV2_HUMAN
  • G3V203_HUMAN
  • H0YHA7_HUMAN
  • J3QQ67_HUMAN
  • Q0QEW2_HUMAN
genes like me logo Genes that share paralogs with RPL18: view

No data available for Paralogs for RPL18 Gene

Variants for RPL18 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RPL18 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
709321 Likely Benign: not provided 48,617,427(-) G/A INTRON_VARIANT
725853 Likely Benign: not provided 48,616,783(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
726616 Likely Benign: not provided 48,617,839(-) C/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT
741689 Benign: not provided 48,616,830(-) G/A INTRON_VARIANT
742006 Likely Benign: not provided 48,615,951(-) G/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for RPL18 Gene

Structural Variations from Database of Genomic Variants (DGV) for RPL18 Gene

Variant ID Type Subtype PubMed ID
dgv3617n100 CNV gain 25217958
esv1003432 CNV gain 20482838
nsv9739 CNV gain+loss 18304495

Variation tolerance for RPL18 Gene

Residual Variation Intolerance Score: 28.4% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RPL18 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPL18

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPL18 Gene

Disorders for RPL18 Gene

MalaCards: The human disease database

(8) MalaCards diseases for RPL18 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
diamond-blackfan anemia 18
  • dba18
diamond-blackfan anemia
  • diamond-blackfan anemia 1
barber-say syndrome
  • bbrsay
pierre robin syndrome
  • prbns
macrocytic anemia
  • anemia macrocytic
- elite association - COSMIC cancer census association via MalaCards
Search RPL18 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RL18_HUMAN
  • Diamond-Blackfan anemia 18 (DBA18) [MIM:618310]: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. DBA18 inheritance is autosomal dominant. {ECO:0000269 PubMed:28280134}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RPL18

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 RPL18: view

No data available for Genatlas for RPL18 Gene

Publications for RPL18 Gene

  1. Nucleotide and deduced amino acid sequence of human ribosomal protein L18. (PMID: 8218404) Puder M … Chen LB (Biochimica et biophysica acta 1993) 2 3 4 23
  2. Structural snapshots of actively translating human ribosomes. (PMID: 25957688) Behrmann E … Spahn CM (Cell 2015) 3 4
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for RPL18 Gene