Human Gene RRS1 (ENST00000320270.4_4) from GENCODE V47lift37
  Description: ribosome biogenesis regulator 1 homolog (from RefSeq NM_015169.4)
Gencode Transcript: ENST00000320270.4_4
Gencode Gene: ENSG00000179041.4_8
Transcript (Including UTRs)
   Position: hg19 chr8:67,341,249-67,342,968 Size: 1,720 Total Exon Count: 1 Strand: +
Coding Region
   Position: hg19 chr8:67,341,367-67,342,464 Size: 1,098 Coding Exon Count: 1 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:67,341,249-67,342,968)mRNA (may differ from genome)Protein (365 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RRS1_HUMAN
DESCRIPTION: RecName: Full=Ribosome biogenesis regulatory protein homolog;
FUNCTION: Involved in ribosome biogenesis (By similarity).
SUBCELLULAR LOCATION: Nucleus, nucleolus.
SIMILARITY: Belongs to the RRS1 family.
SEQUENCE CAUTION: Sequence=BAA04948.1; Type=Erroneous initiation;

-  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: RRS1
Diseases sorted by gene-association score: robinow syndrome (1)

-  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.

+  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 -41.90118-0.355 Picture PostScript Text
3' UTR -111.50504-0.221 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
IPR007023 - Ribosom_reg

Pfam Domains:
PF04939 - Ribosome biogenesis regulatory protein (RRS1)

ModBase Predicted Comparative 3D Structure on Q15050
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:0005515 protein binding
GO:0008097 5S rRNA binding

Biological Process:
GO:0000027 ribosomal large subunit assembly
GO:0000055 ribosomal large subunit export from nucleus
GO:0000447 endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
GO:0002244 hematopoietic progenitor cell differentiation
GO:0007080 mitotic metaphase plate congression
GO:0042254 ribosome biogenesis
GO:0042273 ribosomal large subunit biogenesis
GO:1901796 regulation of signal transduction by p53 class mediator
GO:1902570 protein localization to nucleolus

Cellular Component:
GO:0000794 condensed nuclear chromosome
GO:0001650 fibrillar center
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005783 endoplasmic reticulum
GO:0030687 preribosome, large subunit precursor


-  Descriptions from all associated GenBank mRNAs
  D25218 - Homo sapiens KIAA0112 mRNA.
BC013043 - Homo sapiens RRS1 ribosome biogenesis regulator homolog (S. cerevisiae), mRNA (cDNA clone MGC:4831 IMAGE:3603972), complete cds.
AK024716 - Homo sapiens cDNA: FLJ21063 fis, clone CAS01146.
BC001811 - Homo sapiens RRS1 ribosome biogenesis regulator homolog (S. cerevisiae), mRNA (cDNA clone MGC:2755 IMAGE:2824034), complete cds.
JD458051 - Sequence 439075 from Patent EP1572962.
LF212822 - JP 2014500723-A/20325: Polycomb-Associated Non-Coding RNAs.
EU176745 - Synthetic construct Homo sapiens clone IMAGE:100011667; FLH264101.01L; RZPDo839A09257D RRS1 ribosome biogenesis regulator homolog (S. cerevisiae) (RRS1) gene, encodes complete protein.
DQ892772 - Synthetic construct clone IMAGE:100005402; FLH189574.01X; RZPDo839G0874D RRS1 ribosome biogenesis regulator homolog (S. cerevisiae) (RRS1) gene, encodes complete protein.
AB383752 - Synthetic construct DNA, clone: pF1KSDA0112, Homo sapiens RRS1 gene for ribosome biogenesis regulatory protein homolog, complete cds, without stop codon, in Flexi system.
KJ893344 - Synthetic construct Homo sapiens clone ccsbBroadEn_02738 RRS1 gene, encodes complete protein.
JD564674 - Sequence 545698 from Patent EP1572962.
JD206285 - Sequence 187309 from Patent EP1572962.
MA448399 - JP 2018138019-A/20325: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000320270.1, ENST00000320270.2, ENST00000320270.3, KIAA0112, NM_015169, Q15050, Q9BUX8, RRR, RRS1_HUMAN, uc317qvj.1, uc317qvj.2
UCSC ID: ENST00000320270.4_4
RefSeq Accession: NM_015169.4
Protein: Q15050 (aka RRS1_HUMAN)

-  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.