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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. GO annotations related to this gene include poly(A) RNA binding.

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

Regulatory Elements for RRS1 Gene

Enhancers for RRS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08H066605 1.7 FANTOM5 Ensembl ENCODE 10.4 +181.3 181349 8 PKNOX1 ARNT ARID4B SIN3A YY1 SLC30A9 ZNF143 SP3 SP5 MXD4 C8orf44 ADHFE1 RRS1 RRS1-AS1 MYBL1 C8orf46 VCPIP1 GC08M066613 RNU6-1324P
GH08H066021 1.6 FANTOM5 Ensembl ENCODE 10.1 -406.7 -406746 2 PKNOX1 FOXA2 NFIB BMI1 ZNF766 GLIS2 ZNF366 SCRT2 FOS SMARCC1 PDE7A MTFR1 ADHFE1 RRS1 RRS1-AS1 LOC105375883 GC08M066012
GH08H066141 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.3 -286.5 -286538 2 CTCF ETV1 BACH1 RAD21 MEF2D CTBP1 CREB1 SPI1 TRY-GTA5-1 CRH ADHFE1 RRS1 RRS1-AS1 LINC00967 GC08P066139 GC08P066144 PIR59286 GC08P066170
GH08H066026 1.3 Ensembl ENCODE 10.7 -400.6 -400560 4 PKNOX1 SIN3A FEZF1 ZBTB7B ZNF207 FOS RUNX3 DEK SMARCB1 MAFF PDE7A MTFR1 RRS1-AS1 RRS1 ADHFE1 ENSG00000272010 LOC105375883 GC08M066089
GH08H065788 1.3 Ensembl ENCODE dbSUPER 9.9 -638.8 -638783 2 HDAC1 HDGF PKNOX1 ATF1 CHAMP1 ZNF316 NCOR1 EGR1 NFE2 CREM ADHFE1 RRS1 RRS1-AS1 LINC01299 MTFR1 GC08P065773 GC08M065824
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RRS1 on UCSC Golden Path with GeneCards custom track

Promoters for RRS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000225393 1473 5000 FOXA2 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207

Genomic Location for RRS1 Gene

Chromosome:
8
Start:
66,429,028 bp from pter
End:
66,430,733 bp from pter
Size:
1,706 bases
Orientation:
Plus strand

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 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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RRS1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RRS1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Primer Products

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 33 34
  • 50.86 (n)
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 Sequence Context AA Info Type
rs1000127524 -- 66,428,593(+) GACAA(A/C)CCCTC intron-variant, upstream-variant-2KB
rs1000219802 -- 66,431,036(+) GAACC(G/T)GGGAG intron-variant, upstream-variant-2KB
rs1000268955 -- 66,431,222(+) GTCTG(-/T)TTTTT intron-variant, upstream-variant-2KB
rs1002159636 -- 66,428,315(+) GTGGC(C/T)TCATT intron-variant, upstream-variant-2KB
rs1002190767 -- 66,428,771(+) GCGGC(C/T)CCCCG intron-variant, upstream-variant-2KB

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)

Relevant External Links for RRS1 Gene

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

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

Relevant External Links for RRS1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  2. A nucleolar protein RRS1 contributes to chromosome congression. (PMID: 19465021) Gambe AE … Fukui K (FEBS letters 2009) 2 3 60
  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 60
  4. Functional proteomic analysis of human nucleolus. (PMID: 12429849) Scherl A … Diaz JJ (Molecular biology of the cell 2002) 3 4 60
  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 60

Products for RRS1 Gene

Sources for RRS1 Gene

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