The protein encoded by this gene is the putative homolog of the yeast ribosomal RNA processing protein RRP1. The encoded protein is involved in the late stages of nucleologenesis at the end of mitosis, and may be required for the generation of 28S rRNA. [provided by RefSeq, Jul 2008] See more...

Aliases for RRP1 Gene

Aliases for RRP1 Gene

  • Ribosomal RNA Processing 1 2 3 5
  • D21S2056E 2 3 4
  • NNP-1 2 3 4
  • NOP52 2 3 4
  • RRP1A 2 3 4
  • Ribosomal RNA Processing Protein 1 Homolog A 3 4
  • Novel Nuclear Protein 1 3 4
  • Nucleolar Protein Nop52 3 4
  • RRP1-Like Protein 3 4
  • DNA Segment On Chromosome 21 (Unique) 2056 Expressed Sequence 2
  • Ribosomal RNA Processing 1 Homolog (S. Cerevisiae) 2
  • Nnp1 Homolog, Nucleolar Protein (Drosophila) 2
  • Ribosomal RNA Processing 1 Homolog 3
  • Nnp1 Homolog, Nucleolar Protein 3
  • Protein NNP-1 3
  • Nop52 2
  • RRP1 5
  • NNP1 4

External Ids for RRP1 Gene

Previous GeneCards Identifiers for RRP1 Gene

  • GC21P044035
  • GC21P045209
  • GC21P030577

Summaries for RRP1 Gene

Entrez Gene Summary for RRP1 Gene

  • The protein encoded by this gene is the putative homolog of the yeast ribosomal RNA processing protein RRP1. The encoded protein is involved in the late stages of nucleologenesis at the end of mitosis, and may be required for the generation of 28S rRNA. [provided by RefSeq, Jul 2008]

GeneCards Summary for RRP1 Gene

RRP1 (Ribosomal RNA Processing 1) is a Protein Coding gene. An important paralog of this gene is RRP1B.

UniProtKB/Swiss-Prot Summary for RRP1 Gene

Gene Wiki entry for RRP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RRP1 Gene

Genomics for RRP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RRP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RRP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RRP1

Top Transcription factor binding sites by QIAGEN in the RRP1 gene promoter:
  • AP-4
  • ATF
  • c-Myc
  • Max
  • SRF
  • SRF (504 AA)
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2

Genomic Locations for RRP1 Gene

Genomic Locations for RRP1 Gene
chr21:43,789,513-43,805,293
(GRCh38/hg38)
Size:
15,781 bases
Orientation:
Plus strand
chr21:45,209,394-45,225,174
(GRCh37/hg19)
Size:
15,781 bases
Orientation:
Plus strand

Genomic View for RRP1 Gene

Genes around RRP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RRP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RRP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RRP1 Gene

Proteins for RRP1 Gene

  • Protein details for RRP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56182-RRP1_HUMAN
    Recommended name:
    Ribosomal RNA processing protein 1 homolog A
    Protein Accession:
    P56182
    Secondary Accessions:
    • Q9NST5

    Protein attributes for RRP1 Gene

    Size:
    461 amino acids
    Molecular mass:
    52839 Da
    Quaternary structure:
    • Interacts with C1QBP (PubMed:21536856). Interacts with RRP1B (PubMed:20926688).

neXtProt entry for RRP1 Gene

Post-translational modifications for RRP1 Gene

Other Protein References for RRP1 Gene

No data available for DME Specific Peptides for RRP1 Gene

Domains & Families for RRP1 Gene

Gene Families for RRP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RRP1 Gene

InterPro:
Blocks:
  • Nucleolar, Nop52
ProtoNet:

Suggested Antigen Peptide Sequences for RRP1 Gene

GenScript: Design optimal peptide antigens:
  • RRP1 protein (Q6PJJ2_HUMAN)
  • RRP1-like protein (RRP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P56182

UniProtKB/Swiss-Prot:

RRP1_HUMAN :
  • Belongs to the RRP1 family.
Family:
  • Belongs to the RRP1 family.
genes like me logo Genes that share domains with RRP1: view

Function for RRP1 Gene

Molecular function for RRP1 Gene

UniProtKB/Swiss-Prot Function:
Plays a critical role in the generation of 28S rRNA.

Gene Ontology (GO) - Molecular Function for RRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 20926688
genes like me logo Genes that share ontologies with RRP1: view
genes like me logo Genes that share phenotypes with RRP1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RRP1

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RRP1 Gene

Localization for RRP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RRP1 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 RRP1 gene
Compartment Confidence
nucleus 5
cytoskeleton 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS,IBA 21873635
GO:0005730 nucleolus IEA,IDA --
GO:0030687 preribosome, large subunit precursor IBA 21873635
GO:0030688 preribosome, small subunit precursor IEA --
genes like me logo Genes that share ontologies with RRP1: view

Pathways & Interactions for RRP1 Gene

PathCards logo

SuperPathways for RRP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006364 rRNA processing IEA,IBA 21873635
genes like me logo Genes that share ontologies with RRP1: view

No data available for Pathways by source and SIGNOR curated interactions for RRP1 Gene

Drugs & Compounds for RRP1 Gene

No Compound Related Data Available

Transcripts for RRP1 Gene

mRNA/cDNA for RRP1 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RRP1

Alternative Splicing Database (ASD) splice patterns (SP) for RRP1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13
SP1: -
SP2: - -
SP3: - -
SP4:
SP5:
SP6:

Relevant External Links for RRP1 Gene

GeneLoc Exon Structure for
RRP1

Expression for RRP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RRP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RRP1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.3), Lung (7.9), and Pancreas (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RRP1 Gene



Protein tissue co-expression partners for RRP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RRP1

SOURCE GeneReport for Unigene cluster for RRP1 Gene:

Hs.110757

mRNA Expression by UniProt/SwissProt for RRP1 Gene:

P56182-RRP1_HUMAN
Tissue specificity: Ubiquitously expressed in fetal and adult tissues.

Evidence on tissue expression from TISSUES for RRP1 Gene

  • Kidney(4.3)
  • Lung(4.3)
  • Liver(4.3)
  • Intestine(4.2)
  • Nervous system(3.7)
genes like me logo Genes that share expression patterns with RRP1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RRP1 Gene

Orthologs for RRP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RRP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RRP1 30 31
  • 99.06 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RRP1 30 31
  • 76.58 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rrp1 30
  • 75.98 (n)
Cow
(Bos Taurus)
Mammalia RRP1 30 31
  • 75.69 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rrp1 31
  • 58 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RRP1 31
  • 55 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RRP1 31
  • 35 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RRP1B 31
  • 28 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 27 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.8175 30
Zebrafish
(Danio rerio)
Actinopterygii rrp1 31
  • 26 (a)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4334 30
Fruit Fly
(Drosophila melanogaster)
Insecta Nnp-1 31
  • 15 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea C47E12.7 30 31
  • 43.07 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RRP1 31
  • 25 (a)
OneToMany
Species where no ortholog for RRP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RRP1 Gene

ENSEMBL:
Gene Tree for RRP1 (if available)
TreeFam:
Gene Tree for RRP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RRP1: view image

Paralogs for RRP1 Gene

Paralogs for RRP1 Gene

(1) SIMAP similar genes for RRP1 Gene using alignment to 3 proteins:

  • RRP1_HUMAN
  • D6RE82_HUMAN
  • Q6PJJ2_HUMAN
genes like me logo Genes that share paralogs with RRP1: view

Variants for RRP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RRP1 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
721368 Benign: not provided 43,793,309(+) C/T INTRON_VARIANT
727871 Benign: not provided 43,799,574(+) C/T SYNONYMOUS_VARIANT
731015 Likely Benign: not provided 43,797,542(+) C/T SYNONYMOUS_VARIANT
746239 Likely Benign: not provided 43,789,710(+) G/A SYNONYMOUS_VARIANT
782670 Benign: not provided 43,798,092(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for RRP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for RRP1 Gene

Variant ID Type Subtype PubMed ID
esv33817 CNV loss 17666407
nsv470904 CNV loss 18288195
nsv509799 CNV insertion 20534489
nsv520305 CNV loss 19592680
nsv522204 CNV loss 19592680
nsv587718 CNV loss 21841781
nsv587719 CNV loss 21841781
nsv834107 CNV loss 17160897
nsv834108 CNV loss 17160897
nsv953642 CNV deletion 24416366

Variation tolerance for RRP1 Gene

Residual Variation Intolerance Score: 78.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.77; 89.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RRP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RRP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RRP1 Gene

Disorders for RRP1 Gene

Additional Disease Information for RRP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for RRP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RRP1 Gene

Publications for RRP1 Gene

  1. The nucleolar antigen Nop52, the human homologue of the yeast ribosomal RNA processing RRP1, is recruited at late stages of nucleologenesis. (PMID: 10341208) Savino TM … Hernandez-Verdun D (Journal of cell science 1999) 2 3 4 23
  2. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 2 3 4
  3. The NNP-1 gene (D21S2056E), which encodes a novel nuclear protein, maps in close proximity to the cystatin B gene within the EPM1 and APECED critical region on 21q22.3. (PMID: 9192856) Jansen E … Van de Ven WJ (Genomics 1997) 3 4 23
  4. Splicing factor 2-associated protein p32 participates in ribosome biogenesis by regulating the binding of Nop52 and fibrillarin to preribosome particles. (PMID: 21536856) Yoshikawa H … Takahashi N (Molecular & cellular proteomics : MCP 2011) 3 4
  5. RRP1B targets PP1 to mammalian cell nucleoli and is associated with Pre-60S ribosomal subunits. (PMID: 20926688) Chamousset D … Trinkle-Mulcahy L (Molecular biology of the cell 2010) 3 4

Products for RRP1 Gene

  • Signalway Proteins for RRP1

Sources for RRP1 Gene