ENSG00000122026


Homo sapiens

Features
Gene ID: ENSG00000122026
  
Biological name :RPL21
  
Synonyms : P46778 / ribosomal protein L21 / RPL21
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 13
Strand: 1
Band: q12.2
Gene start: 27251309
Gene end: 27256691
  
Corresponding Affymetrix probe sets: 200012_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000471695
Ensembl peptide - ENSP00000473246
Ensembl peptide - ENSP00000346027
Ensembl peptide - ENSP00000351021
Ensembl peptide - ENSP00000370569
Ensembl peptide - ENSP00000370574
Ensembl peptide - ENSP00000434298
NCBI entrez gene - 6144     See in Manteia.
OMIM - 603636
RefSeq - NM_000982
RefSeq Peptide - NP_000973
swissprot - M0R181
swissprot - M0R3I5
swissprot - G3V1B3
swissprot - P46778
swissprot - Q6IAX2
Ensembl - ENSG00000122026
  
Related genetic diseases (OMIM): 615885 - Hypotrichosis 12, 615885
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
 rpl21ENSDARG00000010516Danio rerio
 RPL21ENSGALG00000027035Gallus gallus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR001147  Ribosomal protein L21e
 IPR008991  Translation protein SH3-like domain superfamily
 IPR018259  Ribosomal protein L21e, conserved site
 IPR036948  Ribosomal protein L21 superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS
 biological_processGO:0006364 rRNA processing TAS
 biological_processGO:0006412 translation IEA
 biological_processGO:0006413 translational initiation TAS
 biological_processGO:0006614 SRP-dependent cotranslational protein targeting to membrane TAS
 biological_processGO:0019083 viral transcription TAS
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005840 ribosome IEA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0022625 cytosolic large ribosomal subunit TAS
 molecular_functionGO:0003723 RNA binding TAS
 molecular_functionGO:0003735 structural constituent of ribosome IEA
 molecular_functionGO:0005515 protein binding IPI


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:0000535 Sparse eyebrows 
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 HP:0000653 Sparse eyelashes "Decreased density/number of eyelashes." [pmid:19125427]
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 HP:0001006 Hypotrichosis "Reduced or lacking hair growth." [HPO:curators]
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 HP:0001596 Alopecia "Loss of hair from the head or body." [HPO:curators]
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 HP:0002231 Sparse body hair "Sparseness of the body hair." [HPO:probinson]
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 HP:0004782 Hypotrichosis of the scalp "Reduced or lacking hair growth of the scalp." [HPO:curators]
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 HP:0100840 Aplasia/Hypoplasia of the eyebrow "Absence or underdevelopment of the eyebrow." [HPO:probinson]
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 HP:0200102 Sparse/absent eyelashes 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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