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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 Influenza Viral RNA Transcription and Replication. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome.

UniProtKB/Swiss-Prot for RPL27 Gene

  • Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:25957688, PubMed:25901680). 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

GeneHancer (GH) Regulatory Elements for RPL27 Gene

Promoters and enhancers for RPL27 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
GH17J042997 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 666.7 +1.7 1675 5.2 CLOCK MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 RPL27 GC17M042997 DHX8 HMGN1P29 ENSG00000267758 NBR2 LINC00910 ENSG00000267604 HMGN2P15 STAT5A
GH17J043322 Enhancer 1.5 Ensembl ENCODE dbSUPER 37.9 +324.9 324890 1.6 CLOCK MLX ZFP64 YBX1 DMAP1 YY1 SLC30A9 ZNF213 ZNF416 ZNF143 UBTF ASB16-AS1 ENSG00000267340 DHX8 ENSG00000267002 HMGN1P29 TMUB2 NBR2 LINC00910 PLEKHH3
GH17J043543 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 19.4 +547.7 547726 4.8 MLX ZFP64 FEZF1 DMAP1 YY1 E2F8 MCM3 SP3 NFYC PPARGC1A ETV4 ENSG00000267747 DHX8 ASB16-AS1 HMGN1P29 LINC00910 UBTF ENSG00000267604 TMUB2 RPL27
GH17J042672 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.3 -319.6 -319575 11.4 MLX ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF213 ZNF143 ZNF263 SP3 CNTNAP1 CCR10 PLEKHH3 ENSG00000267042 DHX8 TUBG2 HMGN1P29 ENSG00000267758 ENSG00000267002 ENSG00000266962
GH17J043366 Enhancer 1.5 Ensembl ENCODE dbSUPER 18.3 +370.4 370441 4 ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC LOC105371785 DHX8 NBR2 HMGN1P29 ASB16-AS1 LINC00910 TMUB2 UBTF PSME3 ENSG00000267340
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RPL27 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RPL27 gene promoter:
  • IRF-7A
  • RREB-1
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a

Genomic Locations for RPL27 Gene

Genomic Locations for RPL27 Gene
chr17:42,998,273-43,002,959
(GRCh38/hg38)
Size:
4,687 bases
Orientation:
Plus strand
chr17:41,150,290-41,154,976
(GRCh37/hg19)
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 (PubMed:12962325, PubMed:23636399, PubMed:25957688, PubMed:25901680). Interacts with RRP1B (PubMed:20926688). Interacts with DHX33 (PubMed:26100019).

    Three dimensional structures from OCA and Proteopedia for RPL27 Gene

neXtProt entry for RPL27 Gene

Post-translational modifications for RPL27 Gene

  • Ubiquitination at posLast=133133, Lys128, Lys98, posLast=7373, and posLast=99
  • 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

Protein Domains for RPL27 Gene

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

UniProtKB/Swiss-Prot Function:
Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:25957688, PubMed:25901680). Required for proper rRNA processing and maturation of 28S and 5.8S rRNAs (PubMed:25424902).
GENATLAS Biochemistry:
60S ribosomal protein L27 (fetal kidney),gene or like sequence

Phenotypes From GWAS Catalog for RPL27 Gene

Gene Ontology (GO) - Molecular Function for RPL27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0003735 structural constituent of ribosome IEA,TAS 8148381
GO:0005515 protein binding IPI 26100019
genes like me logo Genes that share ontologies with RPL27: view
genes like me logo Genes that share phenotypes with RPL27: view

Human Phenotype Ontology for RPL27 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RPL27 Gene

Localization for RPL27 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RPL27 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:A1XQU5, 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 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 HDA 21630459
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005791 rough endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with RPL27: view

No data available for 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

mRNA/cDNA for RPL27 Gene

Unigene Clusters for RPL27 Gene

Ribosomal protein L27:
Representative Sequences:

Clone Products

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, 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

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 34 33
  • 100 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rpl27-ps3 34
  • 100 (a)
OneToMany
Rpl27 16 34 33
  • 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 34 33
  • 92.4 (n)
OneToMany
-- 34
  • 68 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Rpl27 33
  • 90.69 (n)
chicken
(Gallus gallus)
Aves RPL27 34 33
  • 84.31 (n)
OneToOne
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 34 33
  • 84.31 (n)
OneToOne
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 34 33
  • 64.18 (n)
OneToOne
CG4759 35
  • 62 (a)
worm
(Caenorhabditis elegans)
Secernentea rpl-27 34 35 33
  • 65.69 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E03455g 33
  • 58.58 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPL27A 34 33
  • 57.84 (n)
OneToMany
RPL27B 36 34
  • 56 (a)
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
Cin.1774 33
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)
Aminode:
Evolutionary constrained regions (ECRs) for RPL27: view image

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 Variation AA Info Type
rs1085307119 pathogenic, Diamond-Blackfan anemia 16 42,998,748(+) G/A splice_acceptor_variant
rs1000185672 -- 42,998,421(+) C/T upstream_transcript_variant
rs1000289459 -- 42,998,202(+) CCC/CC upstream_transcript_variant
rs1000659295 -- 42,997,124(+) G/C upstream_transcript_variant
rs1000724211 -- 42,998,564(+) A/T 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)

Additional Variant Information for RPL27 Gene

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

SNP Genotyping and Copy Number Assay Products

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, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
diamond-blackfan anemia 16
  • dba16
diamond-blackfan anemia
  • diamond-blackfan anemia 1
macrocytic anemia
  • anemia macrocytic
pierre robin syndrome
  • prbns
- 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.

Additional Disease Information for 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 58
  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 58
  3. The DHX33 RNA Helicase Promotes mRNA Translation Initiation. (PMID: 26100019) Zhang Y … Weber J (Molecular and cellular biology 2015) 3 4 58
  4. 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 58
  5. 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 58

Products for RPL27 Gene