Aliases for RRP8 Gene

Aliases for RRP8 Gene

  • Ribosomal RNA Processing 8 2 3 5
  • Nucleomethylin 2 3 4
  • KIAA0409 2 3 4
  • Ribosomal RNA-Processing Protein 8 3 4
  • Cerebral Protein 1 3 4
  • NML 3 4
  • Ribosomal RNA Processing 8, Methyltransferase, Homolog (Yeast) 2
  • Ribosomal RNA Processing 8, Methyltransferase, Homolog 3
  • RRP8 Methyltransferase Homolog (S. Cerevisiae) 2
  • RRP8 Methyltransferase Homolog 3
  • EC 2.1.1.- 4

External Ids for RRP8 Gene

Previous HGNC Symbols for RRP8 Gene

  • KIAA0409

Previous GeneCards Identifiers for RRP8 Gene

  • GC11M006577
  • GC11M006280

Summaries for RRP8 Gene

GeneCards Summary for RRP8 Gene

RRP8 (Ribosomal RNA Processing 8) is a Protein Coding gene. Diseases associated with RRP8 include Allergic Urticaria and Breast Abscess. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Gene Expression. Gene Ontology (GO) annotations related to this gene include methylated histone binding.

UniProtKB/Swiss-Prot Summary for RRP8 Gene

  • Essential component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates silencing of rDNA in response to intracellular energy status and acts by recruiting histone-modifying enzymes. The eNoSC complex is able to sense the energy status of cell: upon glucose starvation, elevation of NAD(+)/NADP(+) ratio activates SIRT1, leading to histone H3 deacetylation followed by dimethylation of H3 at 'Lys-9' (H3K9me2) by SUV39H1 and the formation of silent chromatin in the rDNA locus. In the complex, RRP8 binds to H3K9me2 and probably acts as a methyltransferase. Its substrates are however unknown.

Gene Wiki entry for RRP8 Gene

Additional gene information for RRP8 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RRP8 Gene

Genomics for RRP8 Gene

GeneHancer (GH) Regulatory Elements for RRP8 Gene

Promoters and enhancers for RRP8 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 RRP8 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RRP8

Top Transcription factor binding sites by QIAGEN in the RRP8 gene promoter:
  • ATF
  • ATF-2
  • CRE-BP1
  • STAT3

Genomic Locations for RRP8 Gene

Genomic Locations for RRP8 Gene
chr11:6,514,830-6,603,678
(GRCh38/hg38)
Size:
88,849 bases
Orientation:
Minus strand
chr11:6,616,305-6,624,850
(GRCh37/hg19)
Size:
8,546 bases
Orientation:
Minus strand

Genomic View for RRP8 Gene

Genes around RRP8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RRP8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RRP8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RRP8 Gene

Proteins for RRP8 Gene

  • Protein details for RRP8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43159-RRP8_HUMAN
    Recommended name:
    Ribosomal RNA-processing protein 8
    Protein Accession:
    O43159
    Secondary Accessions:
    • Q7KZ78
    • Q9BVM6

    Protein attributes for RRP8 Gene

    Size:
    456 amino acids
    Molecular mass:
    50715 Da
    Quaternary structure:
    • Component of the eNoSC complex, composed of SIRT1, SUV39H1 and RRP8.
    SequenceCaution:
    • Sequence=BAA23705.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RRP8 Gene

neXtProt entry for RRP8 Gene

Post-translational modifications for RRP8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RRP8 Gene

No data available for DME Specific Peptides for RRP8 Gene

Domains & Families for RRP8 Gene

Gene Families for RRP8 Gene

Protein Domains for RRP8 Gene

Suggested Antigen Peptide Sequences for RRP8 Gene

GenScript: Design optimal peptide antigens:
  • Nucleomethylin (RRP8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43159

UniProtKB/Swiss-Prot:

RRP8_HUMAN :
  • Belongs to the methyltransferase superfamily. RRP8 family.
Family:
  • Belongs to the methyltransferase superfamily. RRP8 family.
genes like me logo Genes that share domains with RRP8: view

Function for RRP8 Gene

Molecular function for RRP8 Gene

UniProtKB/Swiss-Prot Function:
Essential component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates silencing of rDNA in response to intracellular energy status and acts by recruiting histone-modifying enzymes. The eNoSC complex is able to sense the energy status of cell: upon glucose starvation, elevation of NAD(+)/NADP(+) ratio activates SIRT1, leading to histone H3 deacetylation followed by dimethylation of H3 at 'Lys-9' (H3K9me2) by SUV39H1 and the formation of silent chromatin in the rDNA locus. In the complex, RRP8 binds to H3K9me2 and probably acts as a methyltransferase. Its substrates are however unknown.

Enzyme Numbers (IUBMB) for RRP8 Gene

Gene Ontology (GO) - Molecular Function for RRP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 18485871
GO:0008168 methyltransferase activity IEA --
GO:0008757 S-adenosylmethionine-dependent methyltransferase activity TAS 18485871
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with RRP8: view
genes like me logo Genes that share phenotypes with RRP8: view

Animal Models for RRP8 Gene

MGI Knock Outs for RRP8:
  • Rrp8 Rrp8<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RRP8 Gene

Localization for RRP8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RRP8 Gene

Nucleus, nucleolus. Note=Localizes at rDNA locus.

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 RRP8 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 4
extracellular 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoli (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RRP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005677 chromatin silencing complex IDA,IBA 18485871
GO:0005730 nucleolus IEA,IDA 18485871
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with RRP8: view

Pathways & Interactions for RRP8 Gene

genes like me logo Genes that share pathways with RRP8: view

Pathways by source for RRP8 Gene

Gene Ontology (GO) - Biological Process for RRP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000183 chromatin silencing at rDNA TAS --
GO:0006325 chromatin organization IEA --
GO:0006364 rRNA processing IEA --
GO:0032259 methylation IEA --
GO:0042149 cellular response to glucose starvation IBA,IMP 21471221
genes like me logo Genes that share ontologies with RRP8: view

No data available for SIGNOR curated interactions for RRP8 Gene

Drugs & Compounds for RRP8 Gene

No Compound Related Data Available

Transcripts for RRP8 Gene

mRNA/cDNA for RRP8 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RRP8 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8
SP1:
SP2:
SP3: -
SP4:

Relevant External Links for RRP8 Gene

GeneLoc Exon Structure for
RRP8

Expression for RRP8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RRP8 Gene

Protein differential expression in normal tissues from HIPED for RRP8 Gene

This gene is overexpressed in Tlymphocyte (21.0), Neutrophil (15.9), and Lung (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RRP8 Gene



Protein tissue co-expression partners for RRP8 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RRP8

SOURCE GeneReport for Unigene cluster for RRP8 Gene:

Hs.652255

Evidence on tissue expression from TISSUES for RRP8 Gene

  • Nervous system(4.5)
  • Liver(4.3)
  • Skin(2)
genes like me logo Genes that share expression patterns with RRP8: 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 RRP8 Gene

Orthologs for RRP8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RRP8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RRP8 31 30
  • 99.63 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RRP8 31 30
  • 85.06 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RRP8 31 30
  • 84.36 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rrp8 17 31 30
  • 80.88 (n)
rat
(Rattus norvegicus)
Mammalia Rrp8 30
  • 80.32 (n)
chicken
(Gallus gallus)
Aves RRP8 31 30
  • 66.04 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498652 30
  • 60.15 (n)
Str.5831 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.16327 30
zebrafish
(Danio rerio)
Actinopterygii RRP8 31
  • 32 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7137 31
  • 34 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T07A9.8 31
  • 37 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RRP8 33 31
  • 31 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G40530 30
  • 50 (n)
rice
(Oryza sativa)
Liliopsida Os02g0593900 30
  • 51.24 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3651 31
  • 37 (a)
OneToOne
Species where no ortholog for RRP8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 RRP8 Gene

ENSEMBL:
Gene Tree for RRP8 (if available)
TreeFam:
Gene Tree for RRP8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RRP8: view image

Paralogs for RRP8 Gene

No data available for Paralogs for RRP8 Gene

Variants for RRP8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RRP8 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
674309 Benign: not provided 6,529,079(-) G/A MISSENSE_VARIANT
682604 Benign/Likely Benign: not provided 6,540,067(-) C/T SYNONYMOUS_VARIANT
707873 Benign: not provided 6,563,060(-) G/C MISSENSE_VARIANT
709450 Benign: not provided 6,547,563(-) G/A SYNONYMOUS_VARIANT
709451 Benign: not provided 6,567,417(-) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for RRP8 Gene

Structural Variations from Database of Genomic Variants (DGV) for RRP8 Gene

Variant ID Type Subtype PubMed ID
esv996362 CNV deletion 20482838
nsv553373 CNV loss 21841781
nsv819272 CNV loss 19587683
nsv825755 CNV gain 20364138

Variation tolerance for RRP8 Gene

Residual Variation Intolerance Score: 39.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.47; 64.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RRP8 Gene

Human Gene Mutation Database (HGMD)
RRP8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RRP8

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RRP8 Gene

Disorders for RRP8 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RRP8 Gene - From: DISEASES

Disorder Aliases PubMed IDs
allergic urticaria
breast abscess
  • abscess of breast
- elite association - COSMIC cancer census association via MalaCards
Search RRP8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RRP8

genes like me logo Genes that share disorders with RRP8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RRP8 Gene

Publications for RRP8 Gene

  1. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9455477) Ishikawa K … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4 54
  2. NML-mediated rRNA base methylation links ribosomal subunit formation to cell proliferation in a p53-dependent manner. (PMID: 27149924) Waku T … Fukamizu A (Journal of cell science 2016) 2 3 54
  3. Epigenetic control of rDNA loci in response to intracellular energy status. (PMID: 18485871) Murayama A … Yanagisawa J (Cell 2008) 3 4 54
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54
  5. 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 54

Products for RRP8 Gene

Sources for RRP8 Gene