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Aliases for RRS1 Gene

Aliases for RRS1 Gene

  • Ribosome Biogenesis Regulator Homolog 2 3 5
  • RRS1 Ribosome Biogenesis Regulator Homolog (S. Cerevisiae) 2
  • KIAA0112 4
  • RRR 4

External Ids for RRS1 Gene

Previous GeneCards Identifiers for RRS1 Gene

  • GC08P067280
  • GC08P067064
  • GC08P067391
  • GC08P067503
  • GC08P067341
  • GC08P062831

Summaries for RRS1 Gene

GeneCards Summary for RRS1 Gene

RRS1 (Ribosome Biogenesis Regulator Homolog) is a Protein Coding gene. Diseases associated with RRS1 include Robinow Syndrome.

UniProtKB/Swiss-Prot for RRS1 Gene

  • Involved in ribosomal large subunit assembly. May regulate the localization of the 5S RNP/5S ribonucleoprotein particle to the nucleolus.

Gene Wiki entry for RRS1 Gene

Additional gene information for RRS1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RRS1 Gene

Genomics for RRS1 Gene

GeneHancer (GH) Regulatory Elements for RRS1 Gene

Promoters and enhancers for RRS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I066427 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.6 1617 5.6 FOXA2 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 E2F8 ADHFE1 LOC102724687 RRS1 RRS1-AS1 C8orf46 PIR44367 GC08P066013
GH08I066605 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE 10.4 +181.3 181349 8.8 PKNOX1 ARNT ARID4B SIN3A YY1 SLC30A9 POLR2B ZNF213 ZNF143 SP3 MYBL1 ARFGEF1 C8orf44 ADHFE1 RRS1 RRS1-AS1 C8orf46 VCPIP1 GC08M066612 GC08M066613
GH08I066021 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE 10.1 -406.7 -406746 2.3 PKNOX1 FOXA2 NEUROD1 ZNF766 GLIS2 FOS SP5 REST SMARCB1 GLIS1 LOC105375883 DNAJC5B PDE7A MTFR1 ADHFE1 RRS1 RRS1-AS1 GC08M066012 GC08P066013
GH08I065788 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 9.9 -638.8 -638782 2.7 HDGF HDAC1 MEIS2 PKNOX1 USF1 ATF1 MZF1 CHAMP1 ZNF316 NCOR1 PDE7A ADHFE1 RRS1 RRS1-AS1 LINC01299 MTFR1 GC08P065773 GC08M065824
GH08I066141 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 10.3 -286.5 -286537 2.2 MEF2D CTCF CTBP1 ETV1 CREB1 BACH1 SPI1 TRY-GTA5-1 CRH ADHFE1 RRS1 RRS1-AS1 LINC00967 GC08P066144 GC08P066148 GC08P066170 PIR59286
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RRS1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RRS1 gene promoter:

Genomic Locations for RRS1 Gene

Genomic Locations for RRS1 Gene
chr8:66,429,028-66,430,733
(GRCh38/hg38)
Size:
1,706 bases
Orientation:
Plus strand
chr8:67,341,263-67,342,968
(GRCh37/hg19)

Genomic View for RRS1 Gene

Genes around RRS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RRS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RRS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RRS1 Gene

Proteins for RRS1 Gene

  • Protein details for RRS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15050-RRS1_HUMAN
    Recommended name:
    Ribosome biogenesis regulatory protein homolog
    Protein Accession:
    Q15050
    Secondary Accessions:
    • Q9BUX8

    Protein attributes for RRS1 Gene

    Size:
    365 amino acids
    Molecular mass:
    41193 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA04948.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for RRS1 Gene

Post-translational modifications for RRS1 Gene

Other Protein References for RRS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RRS1 Gene

Domains & Families for RRS1 Gene

Gene Families for RRS1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RRS1 Gene

Suggested Antigen Peptide Sequences for RRS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15050

UniProtKB/Swiss-Prot:

RRS1_HUMAN :
  • Belongs to the RRS1 family.
Family:
  • Belongs to the RRS1 family.
genes like me logo Genes that share domains with RRS1: view

Function for RRS1 Gene

Molecular function for RRS1 Gene

UniProtKB/Swiss-Prot Function:
Involved in ribosomal large subunit assembly. May regulate the localization of the 5S RNP/5S ribonucleoprotein particle to the nucleolus.

Phenotypes From GWAS Catalog for RRS1 Gene

Gene Ontology (GO) - Molecular Function for RRS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA,IDA 22658674
GO:0005515 protein binding IPI 16189514
GO:0008097 5S rRNA binding IDA 24120868
genes like me logo Genes that share ontologies with RRS1: view
genes like me logo Genes that share phenotypes with RRS1: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RRS1 Gene

Localization for RRS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RRS1 Gene

Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RRS1 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 3
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RRS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000794 condensed nuclear chromosome IDA 19465021
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IDA --
GO:0005730 nucleolus IDA,IEA 19465021
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with RRS1: view

Pathways & Interactions for RRS1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RRS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000027 ribosomal large subunit assembly IMP 24120868
GO:0000055 ribosomal large subunit export from nucleus IBA --
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) IBA --
GO:0002244 hematopoietic progenitor cell differentiation IEA --
GO:0007080 mitotic metaphase plate congression IMP 19465021
genes like me logo Genes that share ontologies with RRS1: view

No data available for Pathways by source and SIGNOR curated interactions for RRS1 Gene

Drugs & Compounds for RRS1 Gene

No Compound Related Data Available

Transcripts for RRS1 Gene

mRNA/cDNA for RRS1 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(133) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RRS1 Gene

RRS1 ribosome biogenesis regulator homolog (S. cerevisiae):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RRS1 Gene

No ASD Table

Relevant External Links for RRS1 Gene

GeneLoc Exon Structure for
RRS1
ECgene alternative splicing isoforms for
RRS1

Expression for RRS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RRS1 Gene

Protein differential expression in normal tissues from HIPED for RRS1 Gene

This gene is overexpressed in Liver (18.2), Lung (16.5), Peripheral blood mononuclear cells (10.4), and Breast (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RRS1 Gene



Protein tissue co-expression partners for RRS1 Gene

NURSA nuclear receptor signaling pathways regulating expression of RRS1 Gene:

RRS1

SOURCE GeneReport for Unigene cluster for RRS1 Gene:

Hs.71827

Evidence on tissue expression from TISSUES for RRS1 Gene

  • Lung(4.2)
  • Bone marrow(4.1)
  • Blood(2.3)
  • Liver(2.3)
  • Muscle(2.2)
  • Nervous system(2.2)
  • Heart(2)
genes like me logo Genes that share expression patterns with RRS1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RRS1 Gene

Orthologs for RRS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RRS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RRS1 33 34
  • 94.41 (n)
dog
(Canis familiaris)
Mammalia RRS1 33 34
  • 90.41 (n)
cow
(Bos Taurus)
Mammalia RRS1 33 34
  • 89.77 (n)
mouse
(Mus musculus)
Mammalia Rrs1 33 16 34
  • 87.95 (n)
rat
(Rattus norvegicus)
Mammalia Rrs1 33
  • 87.12 (n)
oppossum
(Monodelphis domestica)
Mammalia RRS1 34
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RRS1 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.641 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15190 33
zebrafish
(Danio rerio)
Actinopterygii rrs1 33 34
  • 63.59 (n)
wufj66c04 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2989 33
fruit fly
(Drosophila melanogaster)
Insecta CG32409 33 34
  • 54.05 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006808 33
  • 51.84 (n)
worm
(Caenorhabditis elegans)
Secernentea rrbs-1 34 33
  • 50.86 (n)
OneToOne
C15H11.9 35
  • 45 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL014C 33
  • 55.56 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B13046g 33
  • 50.99 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RRS1 33 34 36
  • 48.34 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G37990 33
  • 46.91 (n)
rice
(Oryza sativa)
Liliopsida Os04g0685100 33
  • 48.96 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08121 33
  • 51.88 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rrs1 33
  • 47.01 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.984 34
  • 47 (a)
OneToOne
Species where no ortholog for RRS1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RRS1 Gene

ENSEMBL:
Gene Tree for RRS1 (if available)
TreeFam:
Gene Tree for RRS1 (if available)

Paralogs for RRS1 Gene

No data available for Paralogs for RRS1 Gene

Variants for RRS1 Gene

Sequence variations from dbSNP and Humsavar for RRS1 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000127524 -- 66,428,593(+) A/C upstream_transcript_variant
rs1000219802 -- 66,431,036(+) T/G downstream_transcript_variant
rs1000268955 -- 66,431,223(+) TTTTTT/TTTTTTT downstream_transcript_variant
rs1002159636 -- 66,428,315(+) T/C upstream_transcript_variant
rs1002190767 -- 66,428,771(+) C/T upstream_transcript_variant

Variation tolerance for RRS1 Gene

Residual Variation Intolerance Score: 81.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.02; 74.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RRS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RRS1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for RRS1 Gene

Disorders for RRS1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RRS1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
robinow syndrome
  • acral dysostosis with facial and genital abnormalities
- elite association - COSMIC cancer census association via MalaCards
Search RRS1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RRS1

genes like me logo Genes that share disorders with RRS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RRS1 Gene

Publications for RRS1 Gene

  1. The 5S RNP couples p53 homeostasis to ribosome biogenesis and nucleolar stress. (PMID: 24120868) Sloan KE … Watkins NJ (Cell reports 2013) 3 4 58
  2. A nucleolar protein RRS1 contributes to chromosome congression. (PMID: 19465021) Gambe AE … Fukui K (FEBS letters 2009) 2 3 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Functional proteomic analysis of human nucleolus. (PMID: 12429849) Scherl A … Diaz JJ (Molecular biology of the cell 2002) 3 4 58
  5. RRS1, a conserved essential gene, encodes a novel regulatory protein required for ribosome biogenesis in Saccharomyces cerevisiae. (PMID: 10688653) Tsuno A … Mizuta K (Molecular and cellular biology 2000) 2 3 58

Products for RRS1 Gene

Sources for RRS1 Gene

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