Gene Gene information from NCBI Gene database.
Entrez ID 23378
Gene name Ribosomal RNA processing 8
Gene symbol RRP8
Synonyms (NCBI Gene)
KIAA0409NML
Chromosome 11
Chromosome location 11p15.4
miRNA miRNA information provided by mirtarbase database.
126
miRTarBase ID miRNA Experiments Reference
MIRT005242 hsa-let-7b-5p pSILAC 18668040
MIRT005242 hsa-let-7b-5p Proteomics;Other 18668040
MIRT719754 hsa-miR-6771-3p HITS-CLIP 19536157
MIRT719753 hsa-miR-4999-3p HITS-CLIP 19536157
MIRT719752 hsa-miR-6849-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0000183 Process RDNA heterochromatin formation IBA
GO:0000183 Process RDNA heterochromatin formation IDA 18485871
GO:0000183 Process RDNA heterochromatin formation IMP 18485871
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005515 Function Protein binding IPI 18485871, 28514442, 32296183, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615818 29030 ENSG00000132275
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43159
Protein name Ribosomal RNA-processing protein 8 (EC 2.1.1.-) (Cerebral protein 1) (Nucleomethylin)
Protein 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
PDB 2ZFU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05148 Methyltransf_8 237 456 Hypothetical methyltransferase Family
Sequence
MFEEPEWAEAAPVAAGLGPVISRPPPAASSQNKGSKRRQLLATLRALEAASLSQHPPSLC
ISDSEEEEEERKKKCPKKASFASASAEVGKKGKKKCQKQGPPCSDSEEEVERKKKCHKQA
LVGSDSAEDEKRKRKCQKHAPINSAQHLDNVDQTGPKAWKGSTTNDPPKQSPGSTSPKPP
HTLSRKQWRNRQKNKRRCKNKFQPPQVPDQAPAEAPTEKTEVSPVPRTDSHEARAGALRA
RMAQRLDGARFRYLNEQLYSGPSSAAQRLFQEDPEAFLLYHRGFQSQVKKWPLQPVDRIA
RDLRQRPASLVVADFGCGDCRLASSIRNPVHCFDLASLDPRVTVCDMAQVPLEDESVDVA
VFCLSLMGTNIRDFLEEANRVLKPGGLLKVAEVSSRFEDVRTFLRAVTKLGFKIVSKDLT
NSHFFLFDFQKTGPPLVGPKAQLSGLQLQPCLYKRR
Sequence length 456
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    SIRT1 negatively regulates rRNA expression
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Autism spectrum disorder association ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 35833147 Associate
★☆☆☆☆
Found in Text Mining only
Cystic Fibrosis Cystic Fibrosis BEFREE 25807976
★☆☆☆☆
Found in Text Mining only
Mammary Neoplasms Mammary Neoplasms BEFREE 26505814
★☆☆☆☆
Found in Text Mining only
Metabolic Diseases Metabolic Diseases BEFREE 30093689
★☆☆☆☆
Found in Text Mining only
Metabolic Diseases Metabolic syndrome Pubtator 30093689 Associate
★☆☆☆☆
Found in Text Mining only
Obesity Obesity Pubtator 30093689 Associate
★☆☆☆☆
Found in Text Mining only