Human Gene RPL5 (ENST00000370321.8_5) from GENCODE V47lift37
  Description: ribosomal protein L5, transcript variant 2 (from RefSeq NR_146333.1)
Gencode Transcript: ENST00000370321.8_5
Gencode Gene: ENSG00000122406.14_11
Transcript (Including UTRs)
   Position: hg19 chr1:93,297,597-93,307,481 Size: 9,885 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr1:93,297,672-93,307,422 Size: 9,751 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:93,297,597-93,307,481)mRNA (may differ from genome)Protein (297 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RL5_HUMAN
DESCRIPTION: RecName: Full=60S ribosomal protein L5;
FUNCTION: Required for rRNA maturation and formation of the 60S ribosomal subunits. This protein binds 5S RNA.
INTERACTION: P43146:DCC; NbExp=7; IntAct=EBI-358018, EBI-1222919; Q63155:Dcc (xeno); NbExp=4; IntAct=EBI-358018, EBI-1798965;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleolus.
DISEASE: Defects in RPL5 are the cause of Diamond-Blackfan anemia type 6 (DBA6) [MIM:612561]. DBA6 is 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.
SIMILARITY: Belongs to the ribosomal protein L18P family.
WEB RESOURCE: Name=Diamond-Blackfan Anemia mutation database; URL="http://www.dbagenes.unito.it/home.php?select_db=RPL5";

-  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: RPL5
Diseases sorted by gene-association score: diamond-blackfan anemia 6* (1230), diamond-blackfan anemia* (811), diamond-blackfan anemia 1* (283), rpl5-related diamond-blackfan anemia* (100), macrocytic anemia (10), pierre robin syndrome (5), interleukin-7 receptor alpha deficiency (5), congenital hypoplastic anemia (4)
* = 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: 1513.49 RPKM in Ovary
Total median expression: 24238.00 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 -26.2075-0.349 Picture PostScript Text
3' UTR -2.9059-0.049 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
IPR005485 - Rbsml_L5_euk/L18_arc
IPR025607 - Rbsml_L5e/L18P_C
IPR005484 - Ribosomal_L18/L5

Pfam Domains:
PF14204 - Ribosomal L18 C-terminal region
PF17144 - Ribosomal large subunit proteins 60S L5, and 50S L18

SCOP Domains:
53137 - Translational machinery components

ModBase Predicted Comparative 3D Structure on P46777
FrontTopSide
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 orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0003730 mRNA 3'-UTR binding
GO:0003735 structural constituent of ribosome
GO:0005515 protein binding
GO:0008097 5S rRNA binding
GO:0019843 rRNA binding
GO:0031625 ubiquitin protein ligase binding
GO:0048027 mRNA 5'-UTR binding
GO:1990948 ubiquitin ligase inhibitor activity

Biological Process:
GO:0000027 ribosomal large subunit assembly
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
GO:0006364 rRNA processing
GO:0006412 translation
GO:0006413 translational initiation
GO:0006614 SRP-dependent cotranslational protein targeting to membrane
GO:0010628 positive regulation of gene expression
GO:0042273 ribosomal large subunit biogenesis
GO:0045727 positive regulation of translation
GO:0050821 protein stabilization
GO:1901796 regulation of signal transduction by p53 class mediator
GO:1904667 negative regulation of ubiquitin protein ligase activity
GO:2000059 negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
GO:2000435 negative regulation of protein neddylation

Cellular Component:
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0005840 ribosome
GO:0005925 focal adhesion
GO:0016020 membrane
GO:0022625 cytosolic large ribosomal subunit
GO:0032991 macromolecular complex
GO:0070062 extracellular exosome
GO:1990904 ribonucleoprotein complex


-  Descriptions from all associated GenBank mRNAs
  KJ901710 - Synthetic construct Homo sapiens clone ccsbBroadEn_11104 RPL5 gene, encodes complete protein.
AK092963 - Homo sapiens cDNA FLJ35644 fis, clone SPLEN2012525, highly similar to 60S RIBOSOMAL PROTEIN L5.
AK314720 - Homo sapiens cDNA, FLJ95579, Homo sapiens ribosomal protein L5 (RPL5), mRNA.
AK095815 - Homo sapiens cDNA FLJ38496 fis, clone FELIV1000137, highly similar to 60S RIBOSOMAL PROTEIN L5.
AB055762 - Homo sapiens mRNA for ribosomal protein L5, partial cds.
BC109370 - Homo sapiens ribosomal protein L5, mRNA (cDNA clone MGC:117339 IMAGE:5736022), complete cds.
AF113210 - Homo sapiens MSTP030 mRNA, complete cds.
BC132970 - Homo sapiens ribosomal protein L5, mRNA (cDNA clone MGC:164601 IMAGE:40146992), complete cds.
BC132972 - Homo sapiens ribosomal protein L5, mRNA (cDNA clone MGC:164603 IMAGE:40146994), complete cds.
BC001882 - Homo sapiens ribosomal protein L5, mRNA (cDNA clone IMAGE:3544216), complete cds.
AK222604 - Homo sapiens mRNA for ribosomal protein L5 variant, clone: CAS05133.
U14966 - Human ribosomal protein L5 mRNA, complete cds.
AB208980 - Homo sapiens mRNA for ribosomal protein L5 variant protein.
AB464162 - Synthetic construct DNA, clone: pF1KB3448, Homo sapiens RPL5 gene for ribosomal protein L5, without stop codon, in Flexi system.
AX419933 - Sequence 270 from Patent WO0198537.
JD027156 - Sequence 8180 from Patent EP1572962.
JD035974 - Sequence 16998 from Patent EP1572962.
BC012937 - Homo sapiens ribosomal protein L5, mRNA (cDNA clone IMAGE:3853527).
JD022601 - Sequence 3625 from Patent EP1572962.
JD022602 - Sequence 3626 from Patent EP1572962.
JD023600 - Sequence 4624 from Patent EP1572962.
JD026813 - Sequence 7837 from Patent EP1572962.
JD035555 - Sequence 16579 from Patent EP1572962.
CS330179 - Sequence 30 from Patent WO2006063356.
CS330190 - Sequence 46 from Patent WO2006063356.
U66590 - Human ribosomal protein L5 pseudogene mRNA, partial cds.
JD035664 - Sequence 16688 from Patent EP1572962.
U76609 - Human ribosomal L5 protein mRNA, partial cds.
JD025417 - Sequence 6441 from Patent EP1572962.
JD028290 - Sequence 9314 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P46777 (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: ENST00000370321.1, ENST00000370321.2, ENST00000370321.3, ENST00000370321.4, ENST00000370321.5, ENST00000370321.6, ENST00000370321.7, MSTP030, NR_146333, P46777, Q32LZ3, Q53HH6, Q9H3F4, RL5_HUMAN, uc318ihb.1, uc318ihb.2
UCSC ID: ENST00000370321.8_5
RefSeq Accession: NM_000969.5
Protein: P46777 (aka RL5_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene RPL5:
diamond-b (Diamond-Blackfan Anemia)

-  Gene Model Information
  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.