Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the S27e family of ribosomal proteins and component of the 40S subunit. The encoded protein contains a C4-type zinc finger do... See more...

Aliases for RPS27 Gene

Aliases for RPS27 Gene

  • Ribosomal Protein S27 2 3 5
  • Small Ribosomal Subunit Protein ES27 3 4
  • 40S Ribosomal Protein S27 3 4
  • Metallopan-Stimulin 1 3 4
  • Metallopanstimulin 1 2 3
  • MPS-1 3 4
  • MPS1 3 4
  • Ribosomal Protein S27 (Metallopanstimulin 1) 2
  • DBA17 3
  • S27 3

External Ids for RPS27 Gene

Previous GeneCards Identifiers for RPS27 Gene

  • GC01P151780
  • GC01P149694
  • GC01P150738
  • GC01P151181
  • GC01P151182
  • GC01P150777
  • GC01P152229
  • GC01P153963
  • GC01P125325

Summaries for RPS27 Gene

Entrez Gene Summary for RPS27 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 four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the S27e family of ribosomal proteins and component of the 40S subunit. The encoded protein contains a C4-type zinc finger domain that can bind to zinc and may bind to nucleic acid. Mutations in this gene have been identified in numerous melanoma patients and in at least one patient with Diamond-Blackfan anemia (DBA). Elevated expression of this gene has been observed in various human cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2018]

GeneCards Summary for RPS27 Gene

RPS27 (Ribosomal Protein S27) is a Protein Coding gene. Diseases associated with RPS27 include Diamond-Blackfan Anemia 17 and Diamond-Blackfan Anemia. Among its related pathways are Viral mRNA Translation and Mitotic Metaphase and Anaphase. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome. An important paralog of this gene is RPS27L.

UniProtKB/Swiss-Prot Summary for RPS27 Gene

  • Component of the small ribosomal subunit (PubMed:8706699). Required for proper rRNA processing and maturation of 18S rRNAs (PubMed:25424902).

Gene Wiki entry for RPS27 Gene

Additional gene information for RPS27 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RPS27 Gene

Genomics for RPS27 Gene

GeneHancer (GH) Regulatory Elements for RPS27 Gene

Promoters and enhancers for RPS27 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J153989 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.6 637 3.6 EP300 ZBTB40 ZNF217 SIN3A NRF1 MYC TCF12 POLR2G SP1 GTF2E2 NONHSAG002999.2 RPS27 lnc-RPS27-2 RAB13 CREB3L4 LOC101928120 ENSG00000272654 ILF2 INTS3 PYGO2
GH01J153988 Promoter 0.4 Ensembl 500.7 -2.0 -1961 1.2 ZBTB33 NONHSAG002999.2 RPS27 RAB13
GH01J154218 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 23.8 +230.1 230057 5.2 HNRNPK ZBTB40 ZNF217 EP300 NRF1 TCF12 MYC POLR2G USF1 NCOR1 UBAP2L C1orf43 NONHSAG003007.2 SHC1 SLC27A3 THBS3 RPS27 KRTCAP2 CRTC2 SLC39A1
GH01J154965 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 19.4 +981.3 981292 12.2 FOXK2 ZBTB40 ZNF217 SIN3A NRF1 MYC TCF12 POLR2G SP1 NCOR1 SHC1 CKS1B GON4L CLK2 UBAP2L KHDC4 ENSG00000271267 RUSC1-AS1 THBS3 KRTCAP2
GH01J153961 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.9 -25.4 -25448 8 FOXK2 ZBTB40 ZNF217 CTCF ZSCAN5C SIN3A NRF1 MYC POLR2G USF1 CREB3L4 CRTC2 ENSG00000273026 ENSG00000282386 SLC39A1 INTS3 PYGO2 RAB13 RPS27 RPL34P5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RPS27 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RPS27

Top Transcription factor binding sites by QIAGEN in the RPS27 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • C/EBPalpha
  • POU2F1
  • POU2F1a
  • PPAR-gamma1
  • PPAR-gamma2
  • ZIC2

Genomic Locations for RPS27 Gene

Genomic Locations for RPS27 Gene
chr1:153,990,762-153,992,155
(GRCh38/hg38)
Size:
1,394 bases
Orientation:
Plus strand
chr1:153,963,235-153,964,631
(GRCh37/hg19)
Size:
1,397 bases
Orientation:
Plus strand

Genomic View for RPS27 Gene

Genes around RPS27 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPS27 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPS27 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPS27 Gene

Proteins for RPS27 Gene

  • Protein details for RPS27 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P42677-RS27_HUMAN
    Recommended name:
    40S ribosomal protein S27
    Protein Accession:
    P42677
    Secondary Accessions:
    • Q5T4L6

    Protein attributes for RPS27 Gene

    Size:
    84 amino acids
    Molecular mass:
    9461 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Component of the small ribosomal subunit.

    Three dimensional structures from OCA and Proteopedia for RPS27 Gene

neXtProt entry for RPS27 Gene

Post-translational modifications for RPS27 Gene

  • Ubiquitination at Lys5 and Lys16
  • Modification sites at PhosphoSitePlus

Other Protein References for RPS27 Gene

No data available for DME Specific Peptides for RPS27 Gene

Domains & Families for RPS27 Gene

Gene Families for RPS27 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Ribosomal proteins

Protein Domains for RPS27 Gene

Blocks:
  • Ribosomal protein S27E
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RPS27 Gene

GenScript: Design optimal peptide antigens:
  • Ribosomal protein S27 (Q5T4L6_HUMAN)
  • Metallopan-stimulin 1 (RS27_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P42677

UniProtKB/Swiss-Prot:

RS27_HUMAN :
  • Belongs to the eukaryotic ribosomal protein eS27 family.
Family:
  • Belongs to the eukaryotic ribosomal protein eS27 family.
genes like me logo Genes that share domains with RPS27: view

Function for RPS27 Gene

Molecular function for RPS27 Gene

UniProtKB/Swiss-Prot Function:
Component of the small ribosomal subunit (PubMed:8706699). Required for proper rRNA processing and maturation of 18S rRNAs (PubMed:25424902).
GENATLAS Biochemistry:
60S ribosomal protein S27

Phenotypes From GWAS Catalog for RPS27 Gene

Gene Ontology (GO) - Molecular Function for RPS27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding NAS 8908372
GO:0003723 RNA binding HDA 22681889
GO:0003735 structural constituent of ribosome IBA 21873635
GO:0005515 protein binding IPI 16864798
GO:0008270 zinc ion binding NAS 8407955
genes like me logo Genes that share ontologies with RPS27: view
genes like me logo Genes that share phenotypes with RPS27: view

Human Phenotype Ontology for RPS27 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 RPS27

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RPS27 Gene

Localization for RPS27 Gene

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 RPS27 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 3
mitochondrion 2
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for RPS27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IDA 8407955
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol TAS --
GO:0005840 ribosome NAS 8908372
genes like me logo Genes that share ontologies with RPS27: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RPS27 Gene

Pathways & Interactions for RPS27 Gene

PathCards logo

SuperPathways for RPS27 Gene

SuperPathway Contained pathways
1 Viral mRNA Translation
.79
.55
2 Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S
3 Cell Cycle, Mitotic
.60
4 Influenza Viral RNA Transcription and Replication
5 rRNA processing in the nucleus and cytosol
genes like me logo Genes that share pathways with RPS27: view

Pathways by source for RPS27 Gene

1 KEGG pathway for RPS27 Gene
1 GeneGo (Thomson Reuters) pathway for RPS27 Gene
  • CFTR translational fidelity (class I mutations)

Gene Ontology (GO) - Biological Process for RPS27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000028 ribosomal small subunit assembly IBA 21873635
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS --
GO:0006364 rRNA processing IMP 25424902
GO:0006412 translation NAS,IEA 8908372
GO:0006413 translational initiation TAS --
genes like me logo Genes that share ontologies with RPS27: view

No data available for SIGNOR curated interactions for RPS27 Gene

Drugs & Compounds for RPS27 Gene

(2) Drugs for RPS27 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0
genes like me logo Genes that share compounds with RPS27: view

Transcripts for RPS27 Gene

mRNA/cDNA for RPS27 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
5 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 RPS27

Alternative Splicing Database (ASD) splice patterns (SP) for RPS27 Gene

No ASD Table

Relevant External Links for RPS27 Gene

GeneLoc Exon Structure for
RPS27

Expression for RPS27 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RPS27 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RPS27 Gene



Protein tissue co-expression partners for RPS27 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RPS27

SOURCE GeneReport for Unigene cluster for RPS27 Gene:

Hs.546291

mRNA Expression by UniProt/SwissProt for RPS27 Gene:

P42677-RS27_HUMAN
Tissue specificity: Expressed in a wide variety of actively proliferating cells and tumor tissues.

Evidence on tissue expression from TISSUES for RPS27 Gene

  • Liver(4.9)
  • Blood(4.5)
  • Heart(4.5)
  • Muscle(3.9)
  • Nervous system(3.8)
  • Intestine(3.4)
  • Lung(2.9)
  • Stomach(2.9)
  • Eye(2.5)
  • Pancreas(2.5)
  • Spleen(2.5)
  • Skin(2.4)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with RPS27: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RPS27 Gene

Orthologs for RPS27 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RPS27 Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Gm9846 31
  • 100 (a)
OneToMany
Rps27 31
  • 100 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia RPS27 31 31 30
  • 100 (n)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia RPS27 31
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rps27 30
  • 96.03 (n)
cow
(Bos Taurus)
Mammalia -- 31
  • 95 (a)
OneToMany
RPS27 31 30
  • 94.84 (n)
OneToMany
dog
(Canis familiaris)
Mammalia RPS27 31 31 30
  • 88.89 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia RPS27 31
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rps27 30
  • 80.16 (n)
zebrafish
(Danio rerio)
Actinopterygii rps27.1 31
  • 96 (a)
ManyToMany
rps27.2 31 30
  • 80.95 (n)
ManyToMany
-- 30
fruit fly
(Drosophila melanogaster)
Insecta CG10423 32
  • 85 (a)
RpS27 31 30
  • 73.98 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007157 30
  • 74.21 (n)
worm
(Caenorhabditis elegans)
Secernentea rps-27 31 30
  • 68.27 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPS27A 31
  • 70 (a)
ManyToMany
RPS27B 31 30
  • 62.6 (n)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR065C 30
  • 61.79 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E11661g 30
  • 58.94 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G47930 30
  • 71.86 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7575 30
rice
(Oryza sativa)
Liliopsida Os02g0478700 30
  • 72.29 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.190 30
corn
(Zea mays)
Liliopsida Zm.7093 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10862 31
  • 96 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rps27 30
  • 67.07 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00618 30
  • 65.85 (n)
Species where no ortholog for RPS27 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RPS27 Gene

ENSEMBL:
Gene Tree for RPS27 (if available)
TreeFam:
Gene Tree for RPS27 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RPS27: view image

Paralogs for RPS27 Gene

Paralogs for RPS27 Gene

(2) SIMAP similar genes for RPS27 Gene using alignment to 2 proteins:

  • RS27_HUMAN
  • Q5T4L4_HUMAN
genes like me logo Genes that share paralogs with RPS27: view

Variants for RPS27 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RPS27 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
727666 Benign: not provided 153,991,107(+) C/T INTRON_VARIANT
739311 Benign: not provided 153,991,591(+) T/C SYNONYMOUS_VARIANT
745884 Likely Benign: not provided 153,991,174(+) A/G SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
rs1085307115 Pathogenic: Diamond-Blackfan anemia 17 153,991,196(+) TC/T FRAMESHIFT_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for RPS27 Gene

Structural Variations from Database of Genomic Variants (DGV) for RPS27 Gene

Variant ID Type Subtype PubMed ID
nsv946401 CNV duplication 23825009

Variation tolerance for RPS27 Gene

Residual Variation Intolerance Score: 48.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.04; 0.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RPS27 Gene

Human Gene Mutation Database (HGMD)
RPS27
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPS27

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPS27 Gene

Disorders for RPS27 Gene

MalaCards: The human disease database

(6) MalaCards diseases for RPS27 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
diamond-blackfan anemia 17
  • dba17
diamond-blackfan anemia
  • diamond-blackfan anemia 1
macrocytic anemia
  • anemia macrocytic
melanoma
  • malignant melanoma
squamous cell carcinoma, head and neck
  • hnscc
- elite association - COSMIC cancer census association via MalaCards
Search RPS27 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RS27_HUMAN
  • Diamond-Blackfan anemia 17 (DBA17) [MIM:617409]: 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. {ECO:0000269 PubMed:25424902}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RPS27

genes like me logo Genes that share disorders with RPS27: view

No data available for Genatlas for RPS27 Gene

Publications for RPS27 Gene

  1. Primary structures and sequence analysis of human ribosomal proteins L39 and S27. (PMID: 8908372) Tsui SK … Lee CY (Biochemistry and molecular biology international 1996) 2 3 4 23 54
  2. A growth factor-inducible gene encodes a novel nuclear protein with zinc finger structure. (PMID: 8407955) Fernandez-Pol JA … Hamilton PD (The Journal of biological chemistry 1993) 2 3 4 23 54
  3. Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. (PMID: 25424902) Wang R … Ito E (British journal of haematology 2015) 3 4 54
  4. Extraribosomal function of metallopanstimulin-1: reducing paxillin in head and neck squamous cell carcinoma and inhibiting tumor growth. (PMID: 19642098) Dai Y … Stack BC (International journal of cancer 2010) 3 23 54
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54

Products for RPS27 Gene

Sources for RPS27 Gene