ENSG00000142676


Homo sapiens

Features
Gene ID: ENSG00000142676
  
Biological name :RPL11
  
Synonyms : P62913 / ribosomal protein L11 / RPL11
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: p36.11
Gene start: 23691742
Gene end: 23696835
  
Corresponding Affymetrix probe sets: 200010_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000363676
Ensembl peptide - ENSP00000398888
Ensembl peptide - ENSP00000493634
Ensembl peptide - ENSP00000496250
NCBI entrez gene - 6135     See in Manteia.
OMIM - 604175
RefSeq - NM_000975
RefSeq - NM_001199802
RefSeq Peptide - NP_000966
RefSeq Peptide - NP_001186731
swissprot - P62913
swissprot - Q5VVC8
swissprot - Q5VVD0
Ensembl - ENSG00000142676
  
Related genetic diseases (OMIM): 612562 - Diamond-Blackfan anemia 7, 612562
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 rpl11ENSDARG00000043509Danio rerio
 RPL11ENSGALG00000030378Gallus gallus
 Gm5093ENSMUSG00000091742Mus musculus
 Rpl11ENSMUSG00000059291Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR002132  Ribosomal protein L5
 IPR020929  Ribosomal protein L5, conserved site
 IPR022803  Ribosomal protein L5 domain superfamily
 IPR031309  Ribosomal protein L5, C-terminal
 IPR031310  Ribosomal protein L5, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000027 ribosomal large subunit assembly IMP
 biological_processGO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS
 biological_processGO:0002181 cytoplasmic translation IDA
 biological_processGO:0006364 rRNA processing TAS
 biological_processGO:0006412 translation IEA
 biological_processGO:0006413 translational initiation TAS
 biological_processGO:0006605 protein targeting IMP
 biological_processGO:0006614 SRP-dependent cotranslational protein targeting to membrane TAS
 biological_processGO:0010628 positive regulation of gene expression IDA
 biological_processGO:0019083 viral transcription TAS
 biological_processGO:0032092 positive regulation of protein binding IMP
 biological_processGO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process ISS
 biological_processGO:0034504 protein localization to nucleus ISS
 biological_processGO:0042273 ribosomal large subunit biogenesis IMP
 biological_processGO:0050821 protein stabilization IMP
 biological_processGO:1901796 regulation of signal transduction by p53 class mediator IMP
 biological_processGO:1904667 negative regulation of ubiquitin protein ligase activity IMP
 biological_processGO:2000059 negative regulation of ubiquitin-dependent protein catabolic process IMP
 biological_processGO:2000435 negative regulation of protein neddylation IDA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005840 ribosome IEA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0022625 cytosolic large ribosomal subunit TAS
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0042788 polysomal ribosome IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003723 RNA binding TAS
 molecular_functionGO:0003735 structural constituent of ribosome IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008097 5S rRNA binding IMP
 molecular_functionGO:0019843 rRNA binding IEA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:1990948 ubiquitin ligase inhibitor activity IMP


Pathways (from Reactome)
Pathway description
L13a-mediated translational silencing of Ceruloplasmin expression
Peptide chain elongation
SRP-dependent cotranslational protein targeting to membrane
Viral mRNA Translation
Selenocysteine synthesis
Major pathway of rRNA processing in the nucleolus and cytosol
Formation of a pool of free 40S subunits
GTP hydrolysis and joining of the 60S ribosomal subunit
Eukaryotic Translation Termination
Regulation of expression of SLITs and ROBOs
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000076 Vesicoureteral reflux "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators]
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 HP:0000078 Abnormality of the genital tract 
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 HP:0000079 Abnormality of the urinary tract 
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 HP:0000085 Horseshoe kidney 
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 HP:0000175 Cleft palate "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators]
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 HP:0000179 Prominent lower lip "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip." [HPO:curators]
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 HP:0000365 Hearing loss 
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 HP:0000403 Recurrent otitis media 
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 HP:0000413 External auditory canal atresia "Absence or failure to form of the external auditory canal." [HPO:curators]
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 HP:0000453 Choanal atresia "Absence or abnormal closure of the choana (the posterior nasal aperture)." [HPO:curators]
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 HP:0000457 Flat nose 
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 HP:0000823 Delayed puberty 
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 HP:0000912 Sprengel anomaly "A complex deformity characterized by congenital elevation of the scapula." [HPO:curators]
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 HP:0000938 Osteopenia "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators]
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 HP:0000939 Osteoporosis "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators]
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 HP:0000980 Pallor 
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 HP:0001155 Abnormality of the hand "An abnormality affecting one or both hands." [HPO:curators]
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 HP:0001199 Triphalangeal thumb "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin. The thumb normally consists of the first metacarpal and a proximal and distal phalanx. All other digits have an additional middle phalanx. This term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb." [HPO:curators]
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 HP:0001511 Intrauterine growth retardation 
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 HP:0001561 Polyhydramnios 
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 HP:0001629 Ventricular septal defect "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators]
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 HP:0001636 Tetralogy of Fallot "A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present." [HPO:curators]
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 HP:0001643 Patent ductus arteriosus 
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 HP:0001684 Secundum atrial septal defect 
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 HP:0001875 Neutropenia 
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 HP:0001972 Macrocytic anemia 
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 HP:0002076 Migraine 
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 HP:0002488 Acute leukemia 
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0003196 Nasal hypoplasia "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson]
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0005518 Erythrocyte macrocytosis 
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 HP:0009778 Hypoplastic/small thumb 
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 HP:0010487 Hypoplasia of the hypothenar eminence "Underdevelopment of the hypothenar eminence." [HPO:curators]
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 HP:0011675 Arrhythmia "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792]
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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 HP:0025116 Fetal distress "An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile." []
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 HP:0100512 Vitamin D deficiency 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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