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Aliases for RPL27 Gene

Aliases for RPL27 Gene

  • Ribosomal Protein L27 2 3 5
  • Large Ribosomal Subunit Protein EL27 3 4
  • 60S Ribosomal Protein L27 2 3
  • DBA16 3
  • L27 3

External Ids for RPL27 Gene

Previous GeneCards Identifiers for RPL27 Gene

  • GC17P040721
  • GC17P043312
  • GC17P041059
  • GC17P041523
  • GC17P038403
  • GC17P041150
  • GC17P036916

Summaries for RPL27 Gene

Entrez Gene Summary for RPL27 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 L27e family of ribosomal proteins and a component of the 60S subunit. A splice site mutation in this gene has been identified in a Diamond-Blackfan anemia (DBA) patient. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Mar 2017]

GeneCards Summary for RPL27 Gene

RPL27 (Ribosomal Protein L27) is a Protein Coding gene. Diseases associated with RPL27 include Diamond-Blackfan Anemia 16 and Diamond-Blackfan Anemia. Among its related pathways are Viral mRNA Translation and Metabolism. GO annotations related to this gene include poly(A) RNA binding and structural constituent of ribosome.

UniProtKB/Swiss-Prot for RPL27 Gene

  • Component of the large ribosomal subunit (PubMed:12962325). Required for proper rRNA processing and maturation of 28S and 5.8S rRNAs (PubMed:25424902).

Gene Wiki entry for RPL27 Gene

Additional gene information for RPL27 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPL27 Gene

Genomics for RPL27 Gene

Regulatory Elements for RPL27 Gene

Enhancers for RPL27 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H043322 1.7 Ensembl ENCODE dbSUPER 37.9 +324.9 324890 1 MLX ZFP64 YBX1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 NFYC ENSG00000267340 UBTF ASB16-AS1 ENSG00000267002 DHX8 HMGN1P29 TMUB2 NBR2 PLEKHH3 LINC00910
GH17H043366 1.7 Ensembl ENCODE dbSUPER 18.3 +370.4 370442 4 HNRNPUL1 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 DHX8 NBR2 HMGN1P29 ASB16-AS1 LINC00910 TMUB2 UBTF ENSG00000267340 PSME3 NBR1
GH17H043314 1.6 Ensembl ENCODE dbSUPER 18.3 +317.6 317640 2 HNRNPUL1 PKNOX1 ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF302 ZNF143 ZNF207 NBR2 DHX8 ASB16-AS1 HMGN1P29 TMUB2 LINC00910 PLEKHH3 RPL27 PSMC3IP NBR1
GH17H043544 1.4 ENCODE dbSUPER 19.4 +547.7 547727 4 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF143 DHX8 ASB16-AS1 ETV4 HMGN1P29 UBTF ENSG00000267604 LINC00910 RPL27 PLEKHH3 RN7SL507P
GH17H042245 2.1 FANTOM5 Ensembl ENCODE dbSUPER 10.3 -746.9 -746944 10 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A ZNF2 YY1 SLC30A9 FOS STAT5B STAT5A HMGN1P29 ENSG00000267758 GHDC HCRT KCNH4 RPL27 NAGLU PLEKHH3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RPL27 on UCSC Golden Path with GeneCards custom track

Promoters for RPL27 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000094498 427 1401 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 ZC3H11A NFYC MEF2D

Genomic Location for RPL27 Gene

Chromosome:
17
Start:
42,998,273 bp from pter
End:
43,002,959 bp from pter
Size:
4,687 bases
Orientation:
Plus strand

Genomic View for RPL27 Gene

Genes around RPL27 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPL27 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPL27 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPL27 Gene

Proteins for RPL27 Gene

  • Protein details for RPL27 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P61353-RL27_HUMAN
    Recommended name:
    60S ribosomal protein L27
    Protein Accession:
    P61353
    Secondary Accessions:
    • P08526
    • Q4G0A9

    Protein attributes for RPL27 Gene

    Size:
    136 amino acids
    Molecular mass:
    15798 Da
    Quaternary structure:
    • Component of the large ribosomal subunit.

    Three dimensional structures from OCA and Proteopedia for RPL27 Gene

neXtProt entry for RPL27 Gene

Post-translational modifications for RPL27 Gene

  • Ubiquitination at isoforms=9, Lys73, isoforms=98, Lys128, and isoforms=133
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RPL27 Gene

Domains & Families for RPL27 Gene

Gene Families for RPL27 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Ribosomal proteins

Suggested Antigen Peptide Sequences for RPL27 Gene

Graphical View of Domain Structure for InterPro Entry

P61353

UniProtKB/Swiss-Prot:

RL27_HUMAN :
  • Belongs to the eukaryotic ribosomal protein eL27 family.
Family:
  • Belongs to the eukaryotic ribosomal protein eL27 family.
genes like me logo Genes that share domains with RPL27: view

Function for RPL27 Gene

Molecular function for RPL27 Gene

GENATLAS Biochemistry:
60S ribosomal protein L27 (fetal kidney),gene or like sequence
UniProtKB/Swiss-Prot Function:
Component of the large ribosomal subunit (PubMed:12962325). Required for proper rRNA processing and maturation of 28S and 5.8S rRNAs (PubMed:25424902).

Gene Ontology (GO) - Molecular Function for RPL27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0003735 structural constituent of ribosome IEA,TAS 8148381
genes like me logo Genes that share ontologies with RPL27: view
genes like me logo Genes that share phenotypes with RPL27: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RPL27
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RPL27 Gene

Localization for RPL27 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 RPL27 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for RPL27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IDA 21630459
GO:0005829 cytosol TAS --
GO:0005840 ribosome IEA,TAS 8148381
GO:0005925 focal adhesion IDA 21423176
genes like me logo Genes that share ontologies with RPL27: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for RPL27 Gene

Pathways & Interactions for RPL27 Gene

genes like me logo Genes that share pathways with RPL27: view

Pathways by source for RPL27 Gene

1 KEGG pathway for RPL27 Gene
1 GeneGo (Thomson Reuters) pathway for RPL27 Gene

Gene Ontology (GO) - Biological Process for RPL27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS --
GO:0006364 rRNA processing TAS --
GO:0006412 translation NAS,IEA 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 RPL27: view

No data available for SIGNOR curated interactions for RPL27 Gene

Drugs & Compounds for RPL27 Gene

(1) Drugs for RPL27 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with RPL27: view

Transcripts for RPL27 Gene

Unigene Clusters for RPL27 Gene

Ribosomal protein L27:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RPL27
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for RPL27 Gene

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

Relevant External Links for RPL27 Gene

GeneLoc Exon Structure for
RPL27
ECgene alternative splicing isoforms for
RPL27

Expression for RPL27 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RPL27 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RPL27 Gene

This gene is overexpressed in Ovary (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RPL27 Gene



Protein tissue co-expression partners for RPL27 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RPL27 Gene:

RPL27

SOURCE GeneReport for Unigene cluster for RPL27 Gene:

Hs.514196

Evidence on tissue expression from TISSUES for RPL27 Gene

  • Nervous system(4.9)
  • Liver(4.8)
  • Blood(4.7)
  • Eye(4.7)
  • Skin(4.7)
  • Kidney(4.6)
  • Lung(4.4)
  • Intestine(3.8)
  • Heart(3.6)
  • Spleen(3.1)
  • Muscle(3)
  • Lymph node(2.9)
  • Bone marrow(2.8)
  • Adrenal gland(2.7)
  • Pancreas(2.6)
  • Stomach(2.6)
  • Thyroid gland(2.6)
  • Gall bladder(2.5)
genes like me logo Genes that share expression patterns with RPL27: view

Primer Products

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 RPL27 Gene

Orthologs for RPL27 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RPL27 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RPL27 33 34
  • 100 (n)
mouse
(Mus musculus)
Mammalia Rpl27-ps3 34
  • 100 (a)
OneToMany
Rpl27 33 16 34
  • 90.2 (n)
Gm4825 34
  • 86 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 99 (a)
OneToMany
-- 34
  • 57 (a)
OneToMany
dog
(Canis familiaris)
Mammalia RPL27 34 34 33
  • 93.63 (n)
OneToMany
-- 34
  • 86 (a)
OneToMany
cow
(Bos Taurus)
Mammalia RPL27 33 34
  • 92.4 (n)
-- 34
  • 68 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Rpl27 33
  • 90.69 (n)
chicken
(Gallus gallus)
Aves RPL27 33 34
  • 84.31 (n)
lizard
(Anolis carolinensis)
Reptilia RPL27 34
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rpl27 33
  • 81.62 (n)
Str.17062 33
African clawed frog
(Xenopus laevis)
Amphibia rpl27-prov 33
zebrafish
(Danio rerio)
Actinopterygii rpl27 33 34
  • 84.31 (n)
wufc93a08 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8426 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011687 33
  • 65.43 (n)
fruit fly
(Drosophila melanogaster)
Insecta RpL27 33 34
  • 64.18 (n)
CG4759 35
  • 62 (a)
worm
(Caenorhabditis elegans)
Secernentea rpl-27 35 33 34
  • 65.69 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E03455g 33
  • 58.58 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPL27A 33 34
  • 57.84 (n)
RPL27B 34 36
  • 56 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR413C 33
  • 57.6 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G32220 33
  • 57.78 (n)
rice
(Oryza sativa)
Liliopsida Os02g0284600 33
  • 57.6 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7870 34
  • 76 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU01827 33
  • 53.48 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rpl2702 33
  • 52.7 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1774 33
Species where no ortholog for RPL27 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 RPL27 Gene

ENSEMBL:
Gene Tree for RPL27 (if available)
TreeFam:
Gene Tree for RPL27 (if available)

Paralogs for RPL27 Gene

No data available for Paralogs for RPL27 Gene

Variants for RPL27 Gene

Sequence variations from dbSNP and Humsavar for RPL27 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000185672 -- 42,998,421(+) GTTAG(C/T)GGAAG upstream-variant-2KB
rs1000289459 -- 42,998,202(+) GCCCT(-/C)CCAGC upstream-variant-2KB
rs1000659295 -- 42,997,124(+) AGCGA(C/G)ACCCT upstream-variant-2KB
rs1000724211 -- 42,998,564(+) TCCCT(A/T)GGTCT intron-variant
rs1001004601 -- 43,002,395(+) CCAGC(A/T)ACTCG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RPL27 Gene

Variant ID Type Subtype PubMed ID
esv2668416 CNV deletion 23128226
esv2672913 CNV deletion 23128226
esv33998 OTHER inversion 15654335
esv3640618 CNV loss 21293372
nsv1146669 OTHER inversion 26484159
nsv457742 CNV loss 19166990
nsv483009 CNV gain 15286789
nsv575052 CNV loss 21841781

Variation tolerance for RPL27 Gene

Residual Variation Intolerance Score: 40.3% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RPL27 Gene

Human Gene Mutation Database (HGMD)
RPL27
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPL27

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPL27 Gene

Disorders for RPL27 Gene

MalaCards: The human disease database

(4) MalaCards diseases for RPL27 Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
diamond-blackfan anemia 16
  • dba16
diamond-blackfan anemia
  • diamond-blackfan anemia 1
pierre robin syndrome
  • pierre robin sequence
macrocytic anemia
  • anemia macrocytic
- elite association - COSMIC cancer census association via MalaCards
Search RPL27 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RL27_HUMAN
  • Diamond-Blackfan anemia 16 (DBA16) [MIM:617408]: 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.

Relevant External Links for RPL27

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RPL27
genes like me logo Genes that share disorders with RPL27: view

No data available for Genatlas for RPL27 Gene

Publications for RPL27 Gene

  1. Cloning and nucleotide sequence of a full length cDNA encoding ribosomal protein L27 from human fetal kidney. (PMID: 8148381) Gallagher RA … Malik AN (Biochimica et biophysica acta 1994) 3 4 22 60
  2. 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 60
  3. 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 60
  4. Characterization and analysis of posttranslational modifications of the human large cytoplasmic ribosomal subunit proteins by mass spectrometry and Edman sequencing. (PMID: 12962325) Odintsova TI … Karpova GG (Journal of protein chemistry 2003) 3 4 60
  5. The human ribosomal protein genes: sequencing and comparative analysis of 73 genes. (PMID: 11875025) Yoshihama M … Kenmochi N (Genome research 2002) 3 4 60

Products for RPL27 Gene

Sources for RPL27 Gene

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