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Aliases for RPL5 Gene

Aliases for RPL5 Gene

  • Ribosomal Protein L5 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 135 2 3
  • 60S Ribosomal Protein L5 3
  • PPP1R135 3
  • MSTP030 3
  • DBA6 3
  • L5 3

External Ids for RPL5 Gene

Previous GeneCards Identifiers for RPL5 Gene

  • GC01P093703
  • GC01P092503
  • GC01P092635
  • GC01P093009
  • GC01P093297

Summaries for RPL5 Gene

Entrez Gene Summary for RPL5 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 ribosomal protein that is a component of the 60S subunit. The protein belongs to the L18P family of ribosomal proteins. It is located in the cytoplasm. The protein binds 5S rRNA to form a stable complex called the 5S ribonucleoprotein particle (RNP), which is necessary for the transport of nonribosome-associated cytoplasmic 5S rRNA to the nucleolus for assembly into ribosomes. The protein interacts specifically with the beta subunit of casein kinase II. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. This gene is co-transcribed with the small nucleolar RNA gene U21, which is located in its fifth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

GeneCards Summary for RPL5 Gene

RPL5 (Ribosomal Protein L5) is a Protein Coding gene. Diseases associated with RPL5 include Diamond-Blackfan Anemia 6 and Diamond-Blackfan Anemia. Among its related pathways are Metabolism and Viral mRNA Translation. GO annotations related to this gene include poly(A) RNA binding and structural constituent of ribosome.

UniProtKB/Swiss-Prot for RPL5 Gene

  • Required for rRNA maturation and formation of the 60S ribosomal subunits. This protein binds 5S RNA.

Gene Wiki entry for RPL5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPL5 Gene

Genomics for RPL5 Gene

Regulatory Elements for RPL5 Gene

Enhancers for RPL5 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
GH01F093078 0.6 ENCODE 38.6 +248.4 248411 4.5 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 CCDC18-AS1 SNORA66 SNORD21 RPL5 DNTTIP2 DR1 LOC100289500 ACTBP12 MTCO3P21 ENSG00000230439
GH01F093177 1.1 ENCODE 37.3 +348.0 347999 4.7 PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF302 ZNF416 CCDC18-AS1 SNORA66 SNORD21 RPL5 DNTTIP2 LOC100289500 MTCO3P21 ACTBP12 ENSG00000233482 DR1
GH01F093811 1 Ensembl ENCODE 29.6 +983.2 983235 8.3 PKNOX1 WRNIP1 ZFP64 ARID4B SIN3A FEZF1 ZNF48 ZNF2 ZNF143 DEK ENSG00000230439 SNORA66 CCDC18-AS1 SNORD21 RPL5 TRR-TCT1-1 DR1 BCAR3 MIR760 DNTTIP2
GH01F091882 0.6 ENCODE 27 -947.0 -946986 4.4 PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF302 ZNF263 SP3 SNORD21 SNORA66 RPL5 TGFBR3 HFM1 GLMN GC01M091855
GH01F092803 1.2 FANTOM5 Ensembl ENCODE 23.7 -27.0 -26968 3.1 PKNOX1 ATF1 ARNT CREB3L1 GTF3C2 ZNF121 GATA2 FOS NFYC NCOA1 SNORD21 SNORA66 CCDC18-AS1 RPL5 DR1 RPAP2 EVI5 GC01M092807
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around RPL5 on UCSC Golden Path with GeneCards custom track

Promoters for RPL5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000078526 576 2400 CREB3L1 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3

Genomic Location for RPL5 Gene

Chromosome:
1
Start:
92,832,025 bp from pter
End:
92,841,924 bp from pter
Size:
9,900 bases
Orientation:
Plus strand

Genomic View for RPL5 Gene

Genes around RPL5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPL5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPL5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPL5 Gene

Proteins for RPL5 Gene

  • Protein details for RPL5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P46777-RL5_HUMAN
    Recommended name:
    60S ribosomal protein L5
    Protein Accession:
    P46777
    Secondary Accessions:
    • Q32LZ3
    • Q53HH6
    • Q9H3F4

    Protein attributes for RPL5 Gene

    Size:
    297 amino acids
    Molecular mass:
    34363 Da
    Quaternary structure:
    • Interacts with isoform 1 of NVL in an ATP-dependent manner.

    Three dimensional structures from OCA and Proteopedia for RPL5 Gene

neXtProt entry for RPL5 Gene

Post-translational modifications for RPL5 Gene

  • Ubiquitination at Lys 5, Lys 27, Lys 164, Lys 197, and Lys 221
  • Modification sites at PhosphoSitePlus

Other Protein References for RPL5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RPL5 Gene

Domains & Families for RPL5 Gene

Graphical View of Domain Structure for InterPro Entry

P46777

UniProtKB/Swiss-Prot:

RL5_HUMAN :
  • Belongs to the ribosomal protein L18P family.
Family:
  • Belongs to the ribosomal protein L18P family.
genes like me logo Genes that share domains with RPL5: view

Function for RPL5 Gene

Molecular function for RPL5 Gene

GENATLAS Biochemistry:
60S ribosomal protein L5
UniProtKB/Swiss-Prot Function:
Required for rRNA maturation and formation of the 60S ribosomal subunits. This protein binds 5S RNA.

Gene Ontology (GO) - Molecular Function for RPL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding TAS 7772601
GO:0003735 structural constituent of ribosome IEA,NAS 12962325
GO:0005515 protein binding IPI 9465063
GO:0008097 5S rRNA binding IEA,IBA --
GO:0019843 rRNA binding IEA --
genes like me logo Genes that share ontologies with RPL5: view
genes like me logo Genes that share phenotypes with RPL5: view

Human Phenotype Ontology for RPL5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RPL5 Gene

Localization for RPL5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RPL5 Gene

Cytoplasm. Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RPL5 Gene COMPARTMENTS Subcellular localization image for RPL5 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
mitochondrion 2
chloroplast 1

Gene Ontology (GO) - Cellular Components for RPL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IEA,IDA 9687515
GO:0005730 nucleolus IEA,IDA 15469983
GO:0005737 cytoplasm IEA,IDA 15469983
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RPL5: view

Pathways & Interactions for RPL5 Gene

genes like me logo Genes that share pathways with RPL5: view

Pathways by source for RPL5 Gene

1 KEGG pathway for RPL5 Gene
1 GeneGo (Thomson Reuters) pathway for RPL5 Gene

SIGNOR curated interactions for RPL5 Gene

Activates:

Gene Ontology (GO) - Biological Process for RPL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000027 ribosomal large subunit assembly IBA --
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS --
GO:0006364 rRNA processing TAS --
GO:0006412 translation IEA,NAS 12962325
GO:0006413 translational initiation TAS --
genes like me logo Genes that share ontologies with RPL5: view

Drugs & Compounds for RPL5 Gene

(1) Drugs for RPL5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for RPL5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RPL5: view

Transcripts for RPL5 Gene

Unigene Clusters for RPL5 Gene

Ribosomal protein L5:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RPL5 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b
SP1: - - - - -
SP2: - - - -
SP3: - - - - - - -
SP4: - - -
SP5: -
SP6: - -
SP7:
SP8:
SP9: -

Relevant External Links for RPL5 Gene

GeneLoc Exon Structure for
RPL5
ECgene alternative splicing isoforms for
RPL5

Expression for RPL5 Gene

mRNA expression in normal human tissues for RPL5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RPL5 Gene

This gene is overexpressed in Tlymphocyte (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RPL5 Gene



Protein tissue co-expression partners for RPL5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RPL5 Gene:

RPL5

SOURCE GeneReport for Unigene cluster for RPL5 Gene:

Hs.532359
genes like me logo Genes that share expression patterns with RPL5: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RPL5 Gene

Orthologs for RPL5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RPL5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RPL5 34 35
  • 99.78 (n)
oppossum
(Monodelphis domestica)
Mammalia RPL5 35
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 98 (a)
OneToMany
-- 35
  • 85 (a)
OneToMany
dog
(Canis familiaris)
Mammalia RPL5 34 35
  • 92.26 (n)
mouse
(Mus musculus)
Mammalia Rpl5 34 16 35
  • 92.03 (n)
cow
(Bos Taurus)
Mammalia RPL5 34 35
  • 91.36 (n)
rat
(Rattus norvegicus)
Mammalia Rpl5 34
  • 90.24 (n)
chicken
(Gallus gallus)
Aves RPL5 34 35
  • 83.16 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 96 (a)
OneToMany
-- 35
  • 91 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rpl5 34
  • 81.18 (n)
MGC75757 34
African clawed frog
(Xenopus laevis)
Amphibia MGC52733 34
zebrafish
(Danio rerio)
Actinopterygii rpl5a 35
  • 85 (a)
OneToMany
rpl5b 34 35
  • 76.86 (n)
mgcb01f08 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8270 34
African malaria mosquito
(Anopheles gambiae)
Insecta RL5_ANOGA 34
  • 64.27 (n)
fruit fly
(Drosophila melanogaster)
Insecta RpL5 34 35
  • 63.54 (n)
yip6 36
  • 62 (a)
worm
(Caenorhabditis elegans)
Secernentea rpl-5 36 34 35
  • 57.96 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPL5 34 35 37
  • 56.21 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D06941g 34
  • 55.44 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR104C 34
  • 54.87 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons RPL5B 34
  • 60.52 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.22 34
rice
(Oryza sativa)
Liliopsida Os01g0896800 34
  • 60.02 (n)
Os.9738 34
barley
(Hordeum vulgare)
Liliopsida Hv.10282 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7866 35
  • 75 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU04331 34
  • 57.2 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rpl502 34
  • 56.13 (n)
Species where no ortholog for RPL5 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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 RPL5 Gene

ENSEMBL:
Gene Tree for RPL5 (if available)
TreeFam:
Gene Tree for RPL5 (if available)

Paralogs for RPL5 Gene

genes like me logo Genes that share paralogs with RPL5: view

No data available for Paralogs for RPL5 Gene

Variants for RPL5 Gene

Sequence variations from dbSNP and Humsavar for RPL5 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs121434406 Diamond-Blackfan anemia 6 (DBA6) [MIM:612561], Pathogenic 92,836,283(+) AGCCA(A/G)GTGCC intron-variant, upstream-variant-2KB, reference, missense
VAR_055451 Diamond-Blackfan anemia 6 (DBA6) [MIM:612561]
rs121434405 Pathogenic 92,833,452(+) GAAGA(C/T)GACGA intron-variant, reference, stop-gained
rs587777117 Pathogenic 92,834,833(+) CACAC(G/T)AACTG intron-variant, reference, stop-gained
rs587777118 Pathogenic 92,837,592(+) AGAAA(C/T)AGTTC intron-variant, downstream-variant-500B, reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for RPL5 Gene

Variant ID Type Subtype PubMed ID
esv2714684 CNV deletion 23290073
nsv1008602 CNV gain 25217958
nsv508393 CNV deletion 20534489
nsv946076 CNV duplication 23825009
nsv946077 CNV duplication 23825009
nsv946078 CNV duplication 23825009
nsv946079 CNV duplication 23825009

Variation tolerance for RPL5 Gene

Residual Variation Intolerance Score: 41.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.76; 16.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RPL5 Gene

Human Gene Mutation Database (HGMD)
RPL5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPL5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPL5 Gene

Disorders for RPL5 Gene

MalaCards: The human disease database

(7) MalaCards diseases for RPL5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
diamond-blackfan anemia 6
  • diamond-blackfan anemia 1
diamond-blackfan anemia
  • diamond-blackfan anemia 1
rpl5-related diamond-blackfan anemia
  • diamond-blackfan anemia 6
macrocytic anemia
  • anemia macrocytic
pierre robin syndrome
  • pierre robin sequence
- elite association - COSMIC cancer census association via MalaCards
Search RPL5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RL5_HUMAN
  • Diamond-Blackfan anemia 6 (DBA6) [MIM:612561]: 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:19061985, ECO:0000269 PubMed:19191325}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RPL5

Genetic Association Database (GAD)
RPL5
Human Genome Epidemiology (HuGE) Navigator
RPL5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RPL5
genes like me logo Genes that share disorders with RPL5: view

No data available for Genatlas for RPL5 Gene

Publications for RPL5 Gene

  1. Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond- Blackfan anemia. (PMID: 19191325) Cmejla R. … Pospisilova D. (Hum. Mutat. 2009) 3 4 22 64
  2. Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. (PMID: 19061985) Gazda H.T. … Beggs A.H. (Am. J. Hum. Genet. 2008) 3 4 22 64
  3. Interaction of the beta subunit of casein kinase II with the ribosomal protein L5. (PMID: 8806611) Kim J.-M. … Bae Y.-S. (Biochem. Biophys. Res. Commun. 1996) 3 4 22 64
  4. Cloning, sequencing and expression of the L5, L21, L27a, L28, S5, S9, S10 and S29 human ribosomal protein mRNAs. (PMID: 7772601) Frigerio J.-M. … Iovanna J.L. (Biochim. Biophys. Acta 1995) 2 3 4 64
  5. U21, a novel small nucleolar RNA with a 13 nt. complementarity to 28S rRNA, is encoded in an intron of ribosomal protein L5 gene in chicken and mammals. (PMID: 7937132) Qu L.H. … Bachellerie J.-P. (Nucleic Acids Res. 1994) 2 3 4 64

Products for RPL5 Gene

Sources for RPL5 Gene

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