Human Gene RPL26 (uc002glh.1)
  Description: Homo sapiens ribosomal protein L26 (RPL26), mRNA.
RefSeq Summary (NM_000987): 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 L24P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015].
Transcript (Including UTRs)
   Position: hg19 chr17:8,280,834-8,286,565 Size: 5,732 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr17:8,280,882-8,285,628 Size: 4,747 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:8,280,834-8,286,565)mRNA (may differ from genome)Protein (145 aa)
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neXtProtOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RL26_HUMAN
DESCRIPTION: RecName: Full=60S ribosomal protein L26;
INTERACTION: Q9NY93:DDX56; NbExp=1; IntAct=EBI-352405, EBI-372376; O15479:MAGEB2; NbExp=1; IntAct=EBI-352405, EBI-1057615; O43586:PSTPIP1; NbExp=1; IntAct=EBI-352405, EBI-1050964;
SIMILARITY: Belongs to the ribosomal protein L24P family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RPL26
Diseases sorted by gene-association score: diamond-blackfan anemia 11* (969), diamond-blackfan anemia* (126), rpl26-related diamond-blackfan anemia* (100), macrocytic anemia (7), conjunctival cancer (5), pierre robin syndrome (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 694.75 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 12219.67 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -25.0096-0.260 Picture PostScript Text
3' UTR -3.9048-0.081 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005824 - KOW
IPR005825 - Ribosomal_L24/26_CS
IPR014723 - Ribosomal_L24_SH3-like
IPR005756 - Ribosomal_L26/L24P_euk/arc
IPR008991 - Translation_prot_SH3-like

Pfam Domains:
PF00467 - KOW motif
PF16906 - Ribosomal proteins L26 eukaryotic, L24P archaeal

SCOP Domains:
50104 - Translation proteins SH3-like domain

ModBase Predicted Comparative 3D Structure on P61254
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsemblFlyBaseWormBase 
 Protein SequenceProtein SequenceProtein SequenceProtein Sequence 
 AlignmentAlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0003735 structural constituent of ribosome
GO:0005515 protein binding
GO:0048027 mRNA 5'-UTR binding

Biological Process:
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
GO:0002181 cytoplasmic translation
GO:0006364 rRNA processing
GO:0006412 translation
GO:0006413 translational initiation
GO:0006614 SRP-dependent cotranslational protein targeting to membrane
GO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest
GO:0034644 cellular response to UV
GO:0042273 ribosomal large subunit biogenesis
GO:0045727 positive regulation of translation
GO:0071479 cellular response to ionizing radiation
GO:0071480 cellular response to gamma radiation
GO:1902164 positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator
GO:1902167 positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator
GO:1904803 regulation of translation involved in cellular response to UV

Cellular Component:
GO:0005622 intracellular
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005840 ribosome
GO:0015934 large ribosomal subunit
GO:0016020 membrane
GO:0022625 cytosolic large ribosomal subunit
GO:0022626 cytosolic ribosome
GO:0070062 extracellular exosome
GO:1990904 ribonucleoprotein complex


-  Descriptions from all associated GenBank mRNAs
  X69392 - H.sapiens mRNA for ribosomal protein L26.
BC071664 - Homo sapiens ribosomal protein L26, mRNA (cDNA clone MGC:87862 IMAGE:5189436), complete cds.
BC066316 - Homo sapiens ribosomal protein L26, mRNA (cDNA clone IMAGE:5277258), containing frame-shift errors.
JD187837 - Sequence 168861 from Patent EP1572962.
JD187836 - Sequence 168860 from Patent EP1572962.
CR456828 - Homo sapiens full open reading frame cDNA clone RZPDo834E0415D for gene RPL26, ribosomal protein L26; complete cds, incl. stopcodon.
KJ892034 - Synthetic construct Homo sapiens clone ccsbBroadEn_01428 RPL26 gene, encodes complete protein.
AK311804 - Homo sapiens cDNA, FLJ92065, Homo sapiens ribosomal protein L26 (RPL26), mRNA.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa03010 - Ribosome

Reactome (by CSHL, EBI, and GO)

Protein P61254 (Reactome details) participates in the following event(s):

R-HSA-72672 The 60S subunit joins the translation initiation complex
R-HSA-156826 Dissociation of L13a from the 60s ribosomal subunit
R-HSA-72673 Release of 40S and 60S subunits from the 80S ribosome
R-HSA-72671 eIF5B:GTP is hydrolyzed and released
R-HSA-156907 Aminoacyl-tRNA binds to the ribosome at the A-site
R-HSA-2408529 Sec-tRNA(Sec):EEFSEC:GTP binds to 80S Ribosome
R-HSA-141691 GTP bound eRF3:eRF1 complex binds the peptidyl tRNA:mRNA:80S Ribosome complex
R-HSA-156915 Translocation of ribosome by 3 bases in the 3' direction
R-HSA-141671 Polypeptide release from the eRF3-GDP:eRF1:mRNA:80S Ribosome complex
R-HSA-156912 Peptide transfer from P-site tRNA to the A-site tRNA
R-HSA-927832 UPF1 binds an mRNP with a termination codon preceding an Exon Junction Complex
R-HSA-927789 Formation of UPF1:eRF3 complex on mRNA with a premature termination codon and no Exon Junction Complex
R-HSA-1799332 Nascent polypeptide:mRNA:ribosome complex binds signal recognition particle (SRP)
R-HSA-156923 Hydrolysis of eEF1A:GTP
R-HSA-5333615 80S:Met-tRNAi:mRNA:SECISBP2:Sec-tRNA(Sec):EEFSEC:GTP is hydrolysed to 80S:Met-tRNAi:mRNA:SECISBP2:Sec and EEFSEC:GDP by EEFSEC
R-HSA-141673 GTP Hydrolysis by eRF3 bound to the eRF1:mRNA:polypeptide:80S Ribosome complex
R-HSA-927889 SMG1 phosphorylates UPF1 (enhanced by Exon Junction Complex)
R-HSA-1799329 Signal peptidase hydrolyzes signal peptide from ribosome-associated nascent protein
R-HSA-1799330 The SRP receptor binds the SRP:nascent peptide:ribosome complex
R-HSA-1799326 Signal-containing nascent peptide translocates to endoplasmic reticulum
R-HSA-72706 GTP hydrolysis and joining of the 60S ribosomal subunit
R-HSA-156827 L13a-mediated translation
R-HSA-72689 Formation of a pool of free 40S subunits
R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol
R-HSA-1799339 SRP-dependent cotranslational protein targeting to membrane
R-HSA-9010553 Regulation of expression of SLITs and ROBOs
R-HSA-72737 Cap-dependent Translation Initiation
R-HSA-72613 Eukaryotic Translation Initiation
R-HSA-8868773 rRNA processing in the nucleus and cytosol
R-HSA-156902 Peptide chain elongation
R-HSA-2408557 Selenocysteine synthesis
R-HSA-72764 Eukaryotic Translation Termination
R-HSA-975957 Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
R-HSA-975956 Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
R-HSA-72766 Translation
R-HSA-376176 Signaling by ROBO receptors
R-HSA-192823 Viral mRNA Translation
R-HSA-72312 rRNA processing
R-HSA-156842 Eukaryotic Translation Elongation
R-HSA-2408522 Selenoamino acid metabolism
R-HSA-927802 Nonsense-Mediated Decay (NMD)
R-HSA-392499 Metabolism of proteins
R-HSA-422475 Axon guidance
R-HSA-168273 Influenza Viral RNA Transcription and Replication
R-HSA-8953854 Metabolism of RNA
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-1266738 Developmental Biology
R-HSA-168255 Influenza Life Cycle
R-HSA-1430728 Metabolism
R-HSA-168254 Influenza Infection
R-HSA-5663205 Infectious disease
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: B2R4F0, D3DTR8, NM_000987, NP_000978, P61254, Q02877, Q6IPY2, RL26_HUMAN
UCSC ID: uc002glh.1
RefSeq Accession: NM_000987
Protein: P61254 (aka RL26_HUMAN)
CCDS: CCDS11142.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene RPL26:
diamond-b (Diamond-Blackfan Anemia)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_000987.3
exon count: 4CDS single in 3' UTR: no RNA size: 602
ORF size: 438CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1076.00frame shift in genome: no % Coverage: 96.68
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.