Gene: RPS26

Basic information

Tag Content
Uniprot ID P62854; P02383; P70394; Q06722; Q3MHD8; Q6IRY4;
Entrez ID 6231
Genbank protein ID AAH15832.1; AAC26987.1; CAA49345.1; CAA54808.1; AAH02604.1; CAA55818.1; AAI05277.1; AAI05799.1; AAH70220.1;
Genbank nucleotide ID XM_005276684.3; NM_001029.3;
Ensembl protein ID ENSP00000348849; ENSP00000450339; ENSP00000496643;
Ensembl nucleotide ID ENSG00000197728
Gene name 40S ribosomal protein S26
Gene symbol RPS26
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Manually collected
Reference 28232668
Functional description
Sequence
MTKKRRNNGR AKKGRGHVQP IRCTNCARCV PKDKAIKKFV IRNIVEAAAV RDISEASVFD 60
AYVLPKLYVK LHYCVSCAIH SKVVRNRSRE ARKDRTPPPR FRPAGAAPRP PPKPM 115

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database


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Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologRPS26F1MB60Bos taurusPredictionMore>>
1:1 orthologRPS26J9P4R8Canis lupus familiarisPredictionMore>>
1:1 ortholog102173919A0A452ELE6Capra hircusPredictionMore>>
1:1 orthologRPS26100034009F6YKH4Equus caballusPredictionMore>>
1:1 orthologRPS266231P62854Homo sapiensPublicationMore>>
1:1 orthologRps2627370P62855Mus musculusPredictionMore>>
1:1 orthologRPS26100037997P49171Sus scrofaPredictionMore>>
1:1 orthologLOC100361854100361854D3Z8D7Rattus norvegicusPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
RPS26rs705704G>AGWAS28232668

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003723 RNA bindingHDA
GO:0003729 mRNA bindingIDA
GO:0003729 mRNA bindingIBA
GO:0003735 structural constituent of ribosomeIBA
GO:0005515 protein bindingIPI
GO:0045296 cadherin bindingHDA

GO:Biological Process

GO ID GO Term Evidence
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decayTAS
GO:0002181 cytoplasmic translationIDA
GO:0006412 translationIC
GO:0006413 translational initiationTAS
GO:0006614 SRP-dependent cotranslational protein targeting to membraneTAS
GO:0019083 viral transcriptionTAS
GO:0033119 negative regulation of RNA splicingIDA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005654 nucleoplasmTAS
GO:0005829 cytosolTAS
GO:0015935 small ribosomal subunitHDA
GO:0016020 membraneHDA
GO:0022627 cytosolic small ribosomal subunitHDA
GO:0022627 cytosolic small ribosomal subunitIBA
GO:0022627 cytosolic small ribosomal subunitIDA
GO:0042788 polysomal ribosomeIDA
GO:0070062 extracellular exosomeHDA
GO:0098556 cytoplasmic side of rough endoplasmic reticulum membraneISS

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-1266738 Developmental BiologyIEA
R-HSA-1430728 MetabolismIEA
R-HSA-156827 L13a-mediated translational silencing of Ceruloplasmin expressionTAS
R-HSA-156842 Eukaryotic Translation ElongationIEA
R-HSA-156902 Peptide chain elongationIEA
R-HSA-1643685 DiseaseTAS
R-HSA-168254 Influenza InfectionTAS
R-HSA-168255 Influenza Life CycleTAS
R-HSA-168273 Influenza Viral RNA Transcription and ReplicationTAS
R-HSA-1799339 SRP-dependent cotranslational protein targeting to membraneIEA
R-HSA-1799339 SRP-dependent cotranslational protein targeting to membraneTAS
R-HSA-192823 Viral mRNA TranslationTAS
R-HSA-2262752 Cellular responses to stressIEA
R-HSA-2408522 Selenoamino acid metabolismIEA
R-HSA-2408557 Selenocysteine synthesisIEA
R-HSA-376176 Signaling by ROBO receptorsIEA
R-HSA-392499 Metabolism of proteinsTAS
R-HSA-392499 Metabolism of proteinsIEA
R-HSA-422475 Axon guidanceIEA
R-HSA-5663205 Infectious diseaseTAS
R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosolTAS
R-HSA-71291 Metabolism of amino acids and derivativesIEA
R-HSA-72312 rRNA processingTAS
R-HSA-72613 Eukaryotic Translation InitiationTAS
R-HSA-72649 Translation initiation complex formationTAS
R-HSA-72662 Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43STAS
R-HSA-72689 Formation of a pool of free 40S subunitsTAS
R-HSA-72695 Formation of the ternary complex, and subsequently, the 43S complexTAS
R-HSA-72702 Ribosomal scanning and start codon recognitionTAS
R-HSA-72706 GTP hydrolysis and joining of the 60S ribosomal subunitTAS
R-HSA-72737 Cap-dependent Translation InitiationTAS
R-HSA-72764 Eukaryotic Translation TerminationIEA
R-HSA-72766 TranslationTAS
R-HSA-72766 TranslationIEA
R-HSA-8868773 rRNA processing in the nucleus and cytosolTAS
R-HSA-8953854 Metabolism of RNATAS
R-HSA-8953897 Cellular responses to external stimuliIEA
R-HSA-9010553 Regulation of expression of SLITs and ROBOsIEA
R-HSA-927802 Nonsense-Mediated Decay (NMD)TAS
R-HSA-9633012 Response of EIF2AK4 (GCN2) to amino acid deficiencyIEA
R-HSA-975956 Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)TAS
R-HSA-975957 Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)TAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0963 Cytoplasm
KW-1024 Diamond-Blackfan anemia
KW-0903 Direct protein sequencing
KW-0225 Disease mutation
KW-0256 Endoplasmic reticulum
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0687 Ribonucleoprotein
KW-0689 Ribosomal protein

Interpro

InterPro ID InterPro Term
IPR000892 Ribosomal_S26e
IPR038551 Ribosomal_S26e_sf

PROSITE

PROSITE ID PROSITE Term
PS00733 RIBOSOMAL_S26E

Pfam

Pfam ID Pfam Term
PF01283 Ribosomal_S26e

Protein-protein interaction

Protein-miRNA interaction