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Aliases for RPL11 Gene

Aliases for RPL11 Gene

  • Ribosomal Protein L11 2 3 5
  • Large Ribosomal Subunit Protein UL5 3 4
  • CLL-Associated Antigen KW-12 3 4
  • Cell Growth-Inhibiting Protein 34 3
  • 60S Ribosomal Protein L11 3
  • GIG34 3
  • DBA7 3
  • L11 3

External Ids for RPL11 Gene

Previous GeneCards Identifiers for RPL11 Gene

  • GC01P023575
  • GC01P023089
  • GC01P023487
  • GC01P023763
  • GC01P023890
  • GC01P024018
  • GC01P022268

Summaries for RPL11 Gene

Entrez Gene Summary for RPL11 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 L5P family of ribosomal proteins. It is located in the cytoplasm. The protein probably associates with the 5S rRNA. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Dec 2010]

GeneCards Summary for RPL11 Gene

RPL11 (Ribosomal Protein L11) is a Protein Coding gene. Diseases associated with RPL11 include Diamond-Blackfan Anemia 7 and Diamond-Blackfan Anemia. Among its related pathways are Viral mRNA Translation and Validated targets of C-MYC transcriptional activation. GO annotations related to this gene include poly(A) RNA binding and structural constituent of ribosome.

UniProtKB/Swiss-Prot for RPL11 Gene

  • Binds to 5S ribosomal RNA (By similarity). Required for rRNA maturation and formation of the 60S ribosomal subunits. Promotes nucleolar location of PML (By similarity).

Gene Wiki entry for RPL11 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPL11 Gene

Genomics for RPL11 Gene

Regulatory Elements for RPL11 Gene

Enhancers for RPL11 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
GH01G023626 1.4 Ensembl ENCODE dbSUPER 25.2 -64.5 -64546 1.7 YBX3 PKNOX1 FOXA2 ATF1 ZNF133 NFXL1 ZNF366 BCLAF1 MIXL1 SMARCA5 RPL11 PNRC2 ELOA LINC01355 ID3 MDS2 E2F2 ASAP3 FUCA1 GC01P023610
GH01G023166 1.4 ENCODE dbSUPER 23.6 -523.4 -523442 4.5 HDGF PKNOX1 SIN3A ARID4B FEZF1 YY1 SLC30A9 ZNF143 ZNF548 SP3 LINC01355 PNRC2 RPL11 ELOA ZNF436-AS1 LUZP1 LACTBL1 GC01P023167
GH01G023963 1.5 Ensembl ENCODE dbSUPER 15 +272.9 272910 1.8 ARNT AGO1 FEZF1 ZNF2 TCF12 GLIS2 GATA2 FOS PAF1 MCM3 RPL11 PNRC2 LINC01355 ELOA SRSF10
GH01G023691 1.2 ENCODE 15.7 +0.8 844 3.1 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 TBX21 MEF2D LINC01355 PNRC2 RPL11 ELOA GC01M023708
GH01G023193 1.9 FANTOM5 Ensembl ENCODE dbSUPER 9.7 -495.6 -495594 6.3 HDGF PKNOX1 SIN3A GLIS2 ZNF143 FOS DEK MCM3 JUNB TSHZ1 LINC01355 ELOA-AS1 RNU6-135P RNU6-514P LUZP1 RPL11 HTR1D LACTBL1 RPL29P6
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RPL11 on UCSC Golden Path with GeneCards custom track

Promoters for RPL11 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000003077 322 1800 CREB3L1 MLX DMAP1 YY1 SLC30A9 ZNF143 SP3 TBX21 MEF2D SSRP1

Genomic Location for RPL11 Gene

Chromosome:
1
Start:
23,691,779 bp from pter
End:
23,696,425 bp from pter
Size:
4,647 bases
Orientation:
Plus strand

Genomic View for RPL11 Gene

Genes around RPL11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPL11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPL11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPL11 Gene

Proteins for RPL11 Gene

  • Protein details for RPL11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62913-RL11_HUMAN
    Recommended name:
    60S ribosomal protein L11
    Protein Accession:
    P62913
    Secondary Accessions:
    • P25121
    • P39026
    • Q8TDH2
    • Q9Y674

    Protein attributes for RPL11 Gene

    Size:
    178 amino acids
    Molecular mass:
    20252 Da
    Quaternary structure:
    • Interacts with PML and MDM2.

    Three dimensional structures from OCA and Proteopedia for RPL11 Gene

    Alternative splice isoforms for RPL11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RPL11 Gene

Post-translational modifications for RPL11 Gene

  • Ubiquitination at Lys8, isoforms=219, isoforms=238, Lys78, Lys85, and isoforms=2169
  • Modification sites at PhosphoSitePlus

Other Protein References for RPL11 Gene

No data available for DME Specific Peptides for RPL11 Gene

Domains & Families for RPL11 Gene

Gene Families for RPL11 Gene

Graphical View of Domain Structure for InterPro Entry

P62913

UniProtKB/Swiss-Prot:

RL11_HUMAN :
  • Belongs to the universal ribosomal protein uL5 family.
Family:
  • Belongs to the universal ribosomal protein uL5 family.
genes like me logo Genes that share domains with RPL11: view

Function for RPL11 Gene

Molecular function for RPL11 Gene

GENATLAS Biochemistry:
60S ribosomal protein L11
UniProtKB/Swiss-Prot Function:
Binds to 5S ribosomal RNA (By similarity). Required for rRNA maturation and formation of the 60S ribosomal subunits. Promotes nucleolar location of PML (By similarity).

Gene Ontology (GO) - Molecular Function for RPL11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA,TAS 22681889
GO:0003735 structural constituent of ribosome IEA,NAS 12962325
GO:0005515 protein binding IPI 15195100
GO:0008097 5S rRNA binding IMP 18560357
GO:0019843 rRNA binding IEA --
genes like me logo Genes that share ontologies with RPL11: view
genes like me logo Genes that share phenotypes with RPL11: view

Human Phenotype Ontology for RPL11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for RPL11 Gene

miRTarBase miRNAs that target RPL11

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for RPL11

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RPL11 Gene

Localization for RPL11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RPL11 Gene

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 RPL11 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
mitochondrion 1

Gene Ontology (GO) - Cellular Components for RPL11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA 23776465
GO:0005730 nucleolus IDA,IEA 15195100
GO:0005737 cytoplasm IDA 15314173
genes like me logo Genes that share ontologies with RPL11: view

Pathways & Interactions for RPL11 Gene

genes like me logo Genes that share pathways with RPL11: view

Pathways by source for RPL11 Gene

1 KEGG pathway for RPL11 Gene
1 GeneGo (Thomson Reuters) pathway for RPL11 Gene

SIGNOR curated interactions for RPL11 Gene

Activates:

Gene Ontology (GO) - Biological Process for RPL11 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 RPL11: view

Drugs & Compounds for RPL11 Gene

(4) Drugs for RPL11 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Alpha-Hydroxy-Beta-Phenyl-Propionic Acid Experimental Pharma Target 0
Anisomycin Experimental Pharma Target JNK agonist, potent and specific 0
puromycin Experimental Pharma Target 0

(1) Additional Compounds for RPL11 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RPL11: view

Transcripts for RPL11 Gene

Unigene Clusters for RPL11 Gene

Ribosomal protein L11:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for RPL11

Alternative Splicing Database (ASD) splice patterns (SP) for RPL11 Gene

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

Relevant External Links for RPL11 Gene

GeneLoc Exon Structure for
RPL11
ECgene alternative splicing isoforms for
RPL11

Expression for RPL11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RPL11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RPL11 Gene

This gene is overexpressed in Tlymphocyte (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RPL11 Gene



Protein tissue co-expression partners for RPL11 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RPL11 Gene:

RPL11

SOURCE GeneReport for Unigene cluster for RPL11 Gene:

Hs.719951

Evidence on tissue expression from TISSUES for RPL11 Gene

  • Liver(4.9)
  • Nervous system(4.6)
  • Pancreas(4.3)
  • Lung(4.2)
  • Eye(4.1)
  • Intestine(4)
  • Skin(3.9)
  • Blood(3.7)
  • Kidney(3.5)
  • Bone(3.4)
  • Bone marrow(3.3)
  • Muscle(3.1)
  • Lymph node(3)
  • Stomach(3)
  • Heart(2.9)
  • Spleen(2.9)
  • Adrenal gland(2.8)
  • Gall bladder(2.8)
  • Thyroid gland(2.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RPL11 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
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 RPL11: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RPL11 Gene

Orthologs for RPL11 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RPL11 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia -- 35
  • 100 (a)
OneToMany
RPL11 34
  • 94.94 (n)
-- 35
  • 90 (a)
OneToMany
-- 35
  • 68 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia RPL11 35
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm10036 35
  • 99 (a)
OneToMany
Gm10288 35
  • 99 (a)
OneToMany
Gm5093 35
  • 97 (a)
OneToMany
Gm7589 35
  • 96 (a)
OneToMany
Rpl11 34 16 35
  • 91.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RPL11 35
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RPL11 35
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RPL11 34 35
  • 93.26 (n)
rat
(Rattus norvegicus)
Mammalia Rpl11 34
  • 91.02 (n)
chicken
(Gallus gallus)
Aves RPL11 34
  • 79.21 (n)
lizard
(Anolis carolinensis)
Reptilia RPL11 35
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rpl11 34
  • 80.19 (n)
zebrafish
(Danio rerio)
Actinopterygii rpl11 34 35
  • 82.77 (n)
fruit fly
(Drosophila melanogaster)
Insecta RpL11 36 34 35
  • 72.35 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011173 34
  • 69.68 (n)
worm
(Caenorhabditis elegans)
Secernentea rpl-11.1 36 35
  • 81 (a)
rpl-11.2 36 34 35
  • 70.41 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPL11B 35 37
  • 70 (a)
OneToMany
RPL11A 34 35
  • 65.87 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL325W 34
  • 68.86 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F08261g 34
  • 67.66 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G45775 34
  • 66.27 (n)
rice
(Oryza sativa)
Liliopsida Os02g0235600 34
  • 65.9 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.110 35
  • 74 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rpl1101 34
  • 68.66 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02509 34
  • 65.51 (n)
Species where no ortholog for RPL11 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 RPL11 Gene

ENSEMBL:
Gene Tree for RPL11 (if available)
TreeFam:
Gene Tree for RPL11 (if available)

Paralogs for RPL11 Gene

genes like me logo Genes that share paralogs with RPL11: view

No data available for Paralogs for RPL11 Gene

Variants for RPL11 Gene

Sequence variations from dbSNP and Humsavar for RPL11 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_055448 Diamond-Blackfan anemia 7 (DBA7) [MIM:612562]
rs121434389 Pathogenic 23,693,872(+) CAGTT(C/T)GAGGG reference, stop-gained
rs587777119 Pathogenic 23,695,877(+) CAGCA(-/AA)GAGGA reference, frameshift-variant
rs587777120 Pathogenic 23,693,853(+) AAGAT(-/T)GCTGT reference, frameshift-variant
rs886041528 Pathogenic 23,692,718(+) AAGGT(-/T)GTTGG reference, frameshift-variant

Variation tolerance for RPL11 Gene

Residual Variation Intolerance Score: 35.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.20; 4.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RPL11 Gene

Human Gene Mutation Database (HGMD)
RPL11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPL11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for RPL11 Gene

Disorders for RPL11 Gene

MalaCards: The human disease database

(6) MalaCards diseases for RPL11 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
diamond-blackfan anemia 7
  • dba7
diamond-blackfan anemia
  • diamond-blackfan anemia 1
rpl11-related diamond-blackfan anemia
  • diamond-blackfan anemia 7
macrocytic anemia
  • anemia macrocytic
congenital hypoplastic anemia
  • congenital aplastic anemia
- elite association - COSMIC cancer census association via MalaCards
Search RPL11 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RL11_HUMAN
  • Diamond-Blackfan anemia 7 (DBA7) [MIM:612562]: 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 RPL11

Genetic Association Database (GAD)
RPL11
Human Genome Epidemiology (HuGE) Navigator
RPL11
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RPL11
genes like me logo Genes that share disorders with RPL11: view

No data available for Genatlas for RPL11 Gene

Publications for RPL11 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. Structural and functional analysis of the human ribosomal protein L11 gene. (PMID: 12815950) Voronina E.N. … Filipenko M.L. (Mol. Biol. (Mosk.) 2003) 3 4 22 64
  3. A map of 75 human ribosomal protein genes. (PMID: 9582194) Kenmochi N. … Page D.C. (Genome Res. 1998) 2 3 4 64
  4. Cloning and determination of the primary structure of DNA complementary to the mRNA of human ribosomal protein L11. (PMID: 7748210) Mishin V.P. … Mertvetsov N.P. (Bioorg. Khim. 1995) 3 4 22 64
  5. Defects in 18 S or 28 S rRNA processing activate the p53 pathway. (PMID: 20056613) HAPlzel M. … Eick D. (J. Biol. Chem. 2010) 3 22 64

Products for RPL11 Gene

  • Addgene plasmids for RPL11

Sources for RPL11 Gene

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