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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
  • Large Ribosomal Subunit Protein UL18 3 4
  • 60S Ribosomal Protein L5 3
  • PPP1R135 3
  • MSTP030 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 four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18P family of ribosomal proteins and component of the 60S subunit. The encoded 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 encoded protein may also function to inhibit tumorigenesis through the activation of downstream tumor suppressors and the downregulation of oncoprotein expression. Mutations in this gene have been identified in patients with Diamond-Blackfan Anemia (DBA). 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 throughout the genome. [provided by RefSeq, Mar 2017]

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 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 RPL5 Gene

  • Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules. The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain. The nascent polypeptides leave the ribosome through a tunnel in the LSU and interact with protein factors that function in enzymatic processing, targeting, and the membrane insertion of nascent chains at the exit of the ribosomal tunnel. As part of the 5S RNP/5S ribonucleoprotein particle it is an essential component of the LSU, required for its formation and the maturation of rRNAs (PubMed:12962325, PubMed:19061985, PubMed:24120868, PubMed:23636399). It also couples ribosome biogenesis to p53/TP53 activation. As part of the 5S RNP it accumulates in the nucleoplasm and inhibits MDM2, when ribosome biogenesis is perturbed, mediating the stabilization and the activation of TP53 (PubMed:24120868).

Gene Wiki entry for RPL5 Gene

Additional gene information for RPL5 Gene

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

Genomics for RPL5 Gene

GeneHancer (GH) Regulatory Elements for RPL5 Gene

Promoters and enhancers for RPL5 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
GH01I092831 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 611.6 +1.4 1404 4.2 CLOCK MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 RPL5 GC01P092832 SNORA66 SNORD21 CCDC18-AS1 MTF2 MIG7 DR1 GLMN RPAP2
GH01I093177 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 43.1 +348.0 347950 4.8 FEZF1 DMAP1 IRF4 YY1 ZNF213 ZNF416 ZNF143 ZNF548 ZNF263 SP3 CCDC18 GC01M093180 TMED5 CCDC18-AS1 SNORA66 SNORD21 RPL5 MIG7 DNTTIP2 RPAP2
GH01I093078 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 29.2 +248.4 248410 4.5 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 MTF2 CCDC18-AS1 SNORA66 SNORD21 TRR-TCT1-1 GLMN RPAP2 RPL5 DR1 DNTTIP2
GH01I091882 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 16.4 -947.0 -946986 4.4 PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B ZNF213 TGFBR3 HFM1 RPAP2 SNORA66 SNORD21 RPL5 GLMN ENSG00000189195 ZNF644 GC01M091855
GH01I092079 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11 -751.4 -751422 1.6 ATF1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF48 POLR2B GLIS2 BTBD8 ENSG00000189195 SNORA66 SNORD21 RPL5 KIAA1107 GAPDHP46 GC01P092039
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RPL5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RPL5 gene promoter:

Genomic Locations for RPL5 Gene

Genomic Locations for RPL5 Gene
chr1:92,832,025-92,841,924
(GRCh38/hg38)
Size:
9,900 bases
Orientation:
Plus strand
chr1:93,297,582-93,307,481
(GRCh37/hg19)

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:
    • Component of the large ribosomal subunit (LSU). Part of a LSU subcomplex, the 5S RNP which is composed of the 5S RNA, RPL5 and RPL11 (PubMed:24120868). Interacts with isoform 1 of NVL in an ATP-dependent manner (PubMed:15469983). Interacts with RRP1B (PubMed:20926688).

    Three dimensional structures from OCA and Proteopedia for RPL5 Gene

neXtProt entry for RPL5 Gene

Post-translational modifications for RPL5 Gene

  • Ubiquitination at isoforms=5, Lys27, Lys164, Lys197, and Lys221
  • 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

Gene Families for RPL5 Gene

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

Graphical View of Domain Structure for InterPro Entry

P46777

UniProtKB/Swiss-Prot:

RL5_HUMAN :
  • Belongs to the universal ribosomal protein uL18 family.
Family:
  • Belongs to the universal ribosomal protein uL18 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:
Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules. The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain. The nascent polypeptides leave the ribosome through a tunnel in the LSU and interact with protein factors that function in enzymatic processing, targeting, and the membrane insertion of nascent chains at the exit of the ribosomal tunnel. As part of the 5S RNP/5S ribonucleoprotein particle it is an essential component of the LSU, required for its formation and the maturation of rRNAs (PubMed:12962325, PubMed:19061985, PubMed:24120868, PubMed:23636399). It also couples ribosome biogenesis to p53/TP53 activation. As part of the 5S RNP it accumulates in the nucleoplasm and inhibits MDM2, when ribosome biogenesis is perturbed, mediating the stabilization and the activation of TP53 (PubMed:24120868).

Phenotypes From GWAS Catalog for RPL5 Gene

Gene Ontology (GO) - Molecular Function for RPL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA,TAS 22658674
GO:0003730 mRNA 3-UTR binding IDA 16213212
GO:0003735 structural constituent of ribosome NAS,IEA 12962325
GO:0005515 protein binding IPI 9465063
GO:0008097 5S rRNA binding IEA,IDA 18560357
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

Clone 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
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 RPL5 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
mitochondrion 2

Subcellular locations from the

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

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:0005654 nucleoplasm IDA 24120868
GO:0005730 nucleolus IDA,IEA 15469983
GO:0005737 cytoplasm IEA,IDA 15314173
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 GeneGo (Thomson Reuters) pathway for RPL5 Gene
1 Cell Signaling Technology 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 IMP 24120868
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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for RPL5 Gene

  • Intestine(4.9)
  • Liver(4.9)
  • Lung(4.9)
  • Nervous system(4.9)
  • Pancreas(4.7)
  • Eye(4.5)
  • Heart(4.5)
  • Kidney(4.3)
  • Skin(4.3)
  • Stomach(4.3)
  • Blood(4.1)
  • Muscle(4)
  • Bone(3.9)
  • Bone marrow(2.9)
  • Spleen(2.7)
  • Lymph node(2.6)
  • Adrenal gland(2.5)
  • Thyroid gland(2.5)
  • Gall bladder(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RPL5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
Pelvis:
  • pelvis
  • penis
  • ureter
  • urethra
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with RPL5: view

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 33 34
  • 99.78 (n)
oppossum
(Monodelphis domestica)
Mammalia RPL5 34
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 98 (a)
OneToMany
-- 34
  • 85 (a)
OneToMany
dog
(Canis familiaris)
Mammalia RPL5 33 34
  • 92.26 (n)
mouse
(Mus musculus)
Mammalia Rpl5 33 16 34
  • 92.03 (n)
cow
(Bos Taurus)
Mammalia RPL5 33 34
  • 91.36 (n)
rat
(Rattus norvegicus)
Mammalia Rpl5 33
  • 90.24 (n)
chicken
(Gallus gallus)
Aves RPL5 33 34
  • 83.16 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 96 (a)
OneToMany
-- 34
  • 91 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rpl5 33
  • 81.18 (n)
MGC75757 33
African clawed frog
(Xenopus laevis)
Amphibia MGC52733 33
zebrafish
(Danio rerio)
Actinopterygii rpl5a 34
  • 85 (a)
OneToMany
rpl5b 33 34
  • 76.86 (n)
mgcb01f08 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8270 33
African malaria mosquito
(Anopheles gambiae)
Insecta RL5_ANOGA 33
  • 64.27 (n)
fruit fly
(Drosophila melanogaster)
Insecta RpL5 33 34
  • 63.54 (n)
yip6 35
  • 62 (a)
worm
(Caenorhabditis elegans)
Secernentea rpl-5 35 33 34
  • 57.96 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPL5 33 34 36
  • 56.21 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D06941g 33
  • 55.44 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR104C 33
  • 54.87 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons RPL5B 33
  • 60.52 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.22 33
rice
(Oryza sativa)
Liliopsida Os01g0896800 33
  • 60.02 (n)
Os.9738 33
barley
(Hordeum vulgare)
Liliopsida Hv.10282 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7866 34
  • 75 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU04331 33
  • 57.2 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rpl502 33
  • 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 Variation AA Info Type
rs1060503527 pathogenic, Diamond-Blackfan anemia 92,833,603(+) C/G coding_sequence_variant, stop_gained
rs1060503545 uncertain-significance, Diamond-Blackfan anemia 92,841,839(+) G/A coding_sequence_variant, missense_variant
rs10874744 benign, Diamond-Blackfan anemia 92,840,760(+) G/A intron_variant
rs113792800 conflicting-interpretations-of-pathogenicity, benign, Diamond-Blackfan anemia, not specified 92,834,847(+) T/C coding_sequence_variant, synonymous_variant
rs11540832 conflicting-interpretations-of-pathogenicity, likely-benign, Diamond-Blackfan anemia, not specified, not provided 92,837,557(+) A/G coding_sequence_variant, missense_variant

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)

Additional Variant Information for RPL5 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for RPL5 Gene

MalaCards: The human disease database

(6) MalaCards diseases for RPL5 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
diamond-blackfan anemia 6
  • diamond-blackfan anemia 1
diamond-blackfan anemia
  • blackfan - diamond syndrome
diamond-blackfan anemia 1
  • dba1
macrocytic anemia
  • anemia macrocytic
pierre robin syndrome
  • prbns
- 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.

Additional Disease Information for RPL5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Human mutation 2009) 3 4 22 58
  2. Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. (PMID: 19061985) Gazda HT … Beggs AH (American journal of human genetics 2008) 3 4 22 58
  3. Interaction of the beta subunit of casein kinase II with the ribosomal protein L5. (PMID: 8806611) Kim JM … Bae YS (Biochemical and biophysical research communications 1996) 3 4 22 58
  4. Cloning, sequencing and expression of the L5, L21, L27a, L28, S5, S9, S10 and S29 human ribosomal protein mRNAs. (PMID: 7772601) Frigerio JM … Iovanna JL (Biochimica et biophysica acta 1995) 2 3 4 58
  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 LH … Bachellerie JP (Nucleic acids research 1994) 2 3 4 58

Products for RPL5 Gene

Sources for RPL5 Gene