Human Gene RPS10 (ENST00000648437.1_8) from GENCODE V47lift37
  Description: ribosomal protein S10, transcript variant 3 (from RefSeq NM_001204091.2)
Gencode Transcript: ENST00000648437.1_8
Gencode Gene: ENSG00000124614.17_21
Transcript (Including UTRs)
   Position: hg19 chr6:34,385,231-34,393,846 Size: 8,616 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr6:34,385,283-34,392,998 Size: 7,716 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:34,385,231-34,393,846)mRNA (may differ from genome)Protein (165 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RS10_HUMAN
DESCRIPTION: RecName: Full=40S ribosomal protein S10;
FUNCTION: Component of the 40S ribosomal subunit.
SUBUNIT: Component of the small ribosomal subunit. Interacts with PRMT5. The methylated form interacts with NPM1.
SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleolus. Note=Localized in the granular component (GC) region of the nucleolus. Methylation is required for its localization in the GC region. Co-localizes with NPS1 in the GC region of the nucleolus.
PTM: Methylated by PRMT5. Methylation is necessary for its interaction with NPS1, its localization in the granular component (GC) region of the nucleolus, for the proper assembly of ribosomes, protein synthesis and optimal cell proliferation.
DISEASE: Defects in RPS10 are the cause of Diamond-Blackfan anemia type 9 (DBA9) [MIM:613308]. It 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 S10e 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: RPS10
Diseases sorted by gene-association score: diamond-blackfan anemia 9* (919), rps10-related diamond-blackfan anemia* (500), diamond-blackfan anemia* (107), macrocytic anemia (7), pierre robin syndrome (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

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

+  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 -8.1038-0.213 Picture PostScript Text
3' UTR -4.2052-0.081 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
IPR005326 - S10_plectin_N

Pfam Domains:
PF03501 - Plectin/S10 domain

SCOP Domains:
46785 - "Winged helix" DNA-binding domain

ModBase Predicted Comparative 3D Structure on P46783
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 orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

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

Biological Process:
GO:0000028 ribosomal small subunit assembly
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
GO:0006412 translation
GO:0006413 translational initiation
GO:0006614 SRP-dependent cotranslational protein targeting to membrane

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005840 ribosome
GO:0005925 focal adhesion
GO:0016020 membrane
GO:0022627 cytosolic small ribosomal subunit


-  Descriptions from all associated GenBank mRNAs
  U14972 - Human ribosomal protein S10 mRNA, complete cds.
BC001032 - Homo sapiens ribosomal protein S10, mRNA (cDNA clone MGC:1633 IMAGE:3139393), complete cds.
BC071946 - Homo sapiens ribosomal protein S10, mRNA (cDNA clone MGC:88633 IMAGE:6305105), complete cds.
BC005012 - Homo sapiens ribosomal protein S10, mRNA (cDNA clone MGC:10566 IMAGE:3637658), complete cds.
BC070235 - Homo sapiens ribosomal protein S10, mRNA (cDNA clone MGC:88217 IMAGE:6453788), complete cds.
JD020613 - Sequence 1637 from Patent EP1572962.
JD020277 - Sequence 1301 from Patent EP1572962.
AK311797 - Homo sapiens cDNA, FLJ92058, Homo sapiens ribosomal protein S10 (RPS10), mRNA.
DQ892134 - Synthetic construct clone IMAGE:100004764; FLH183321.01X; RZPDo839A12142D ribosomal protein S10 (RPS10) gene, encodes complete protein.
DQ895328 - Synthetic construct Homo sapiens clone IMAGE:100009788; FLH183317.01L; RZPDo839A12141D ribosomal protein S10 (RPS10) gene, encodes complete protein.
KJ892056 - Synthetic construct Homo sapiens clone ccsbBroadEn_01450 RPS10 gene, encodes complete protein.
Z70761 - H.sapiens mRNA for ribosomal protein S10.
JD028697 - Sequence 9721 from Patent EP1572962.
CU674952 - Synthetic construct Homo sapiens gateway clone IMAGE:100020163 5' read RPS10 mRNA.
JD022514 - Sequence 3538 from Patent EP1572962.
JD020116 - Sequence 1140 from Patent EP1572962.
JD029553 - Sequence 10577 from Patent EP1572962.
JD026252 - Sequence 7276 from Patent EP1572962.
JD032182 - Sequence 13206 from Patent EP1572962.
JD034732 - Sequence 15756 from Patent EP1572962.
DQ581788 - Homo sapiens piRNA piR-49900, complete sequence.

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

Protein P46783 (Reactome details) participates in the following event(s):

R-HSA-72676 eIF3 and eIF1A bind to the 40S subunit
R-HSA-72673 Release of 40S and 60S subunits from the 80S ribosome
R-HSA-72672 The 60S subunit joins the translation initiation complex
R-HSA-72619 eIF2:GTP is hydrolyzed, eIFs are released
R-HSA-72691 Formation of the 43S pre-initiation complex
R-HSA-156808 Formation of translation initiation complexes yielding circularized Ceruloplasmin mRNA in a 'closed-loop' conformation
R-HSA-157849 Formation of translation initiation complexes containing mRNA that does not circularize
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-72621 Ribosomal scanning
R-HSA-72697 Start codon recognition
R-HSA-156823 Association of phospho-L13a with GAIT element of Ceruloplasmin mRNA
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-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-72706 GTP hydrolysis and joining of the 60S ribosomal subunit
R-HSA-72695 Formation of the ternary complex, and subsequently, the 43S complex
R-HSA-72649 Translation initiation complex formation
R-HSA-72737 Cap-dependent 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-72702 Ribosomal scanning and start codon recognition
R-HSA-156827 L13a-mediated translation
R-HSA-72662 Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S
R-HSA-72613 Eukaryotic Translation Initiation
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: B2R4E3, NM_001204091, P46783, Q5TZC0, RS10_HUMAN, uc328ovd.1, uc328ovd.2
UCSC ID: ENST00000648437.1_8
RefSeq Accession: NM_001014.5
Protein: P46783 (aka RS10_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene RPS10:
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.