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Gene Gene information from NCBI Gene database.
Entrez ID 8568
Gene name Ribosomal RNA processing 1
Gene symbol RRP1
Synonyms (NCBI Gene)
D21S2056ENNP-1NOP52RRP1A
Chromosome 21
Chromosome location 21q22.3
Summary 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. [
miRNA miRNA information provided by mirtarbase database.
47 Show/Hide all (47)
miRTarBase ID miRNA Experiments Reference
MIRT045681 hsa-miR-149-5p CLASH 23622248
MIRT042587 hsa-miR-423-3p CLASH 23622248
MIRT040667 hsa-miR-92b-3p CLASH 23622248
MIRT040457 hsa-miR-615-3p CLASH 23622248
MIRT1320202 hsa-miR-145 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11 Show/Hide all (11)
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005515 Function Protein binding IPI 20926688, 32296183
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus TAS 9192856
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610653 18785 ENSG00000160214
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P56182
Protein name Ribosomal RNA processing protein 1 homolog A (Novel nuclear protein 1) (NNP-1) (Nucleolar protein Nop52) (RRP1-like protein)
Protein function Plays a critical role in the generation of 28S rRNA.
PDB 8FKP , 8FKR , 8FKT , 8FKV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05997 Nop52 11 → 219 Nucleolar protein,Nop52 Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed in fetal and adult tissues. {ECO:0000269|PubMed:9192856}.
Sequence
MVSRVQLPPEIQLAQRLAGNEQVTRDRAVRKLRKYIVARTQRAAGGFTHDELLKVWKGLF
YCMWMQDKPLLQEELGRTISQLVHAFQTTEAQHLFLQAFWQTMNREWTGIDRLRLDKFYM
LMRMVLNESLKVLKMQGWEERQIEELLELLMTEILHPSSQAPNGVKSHFIEIFLEELTKV
GAEELTADQNLKFIDPFCRIAARTKDSLVLNNITRGIFE
TIVEQAPLAIEDLLNELDTQD
EEVASDSDESSEGGERGDALSQKRSEKPPAGSICRAEPEAGEEQAGDDRDSGGPVLQFDY
EAVANRLFEMASRQSTPSQNRKRLYKVIRKLQDLAGGIFPEDEIPEKACRRLLEGRRQKK
TKKQKRLLRLQQERGKGEKEPPSPGMERKRSRRRGVGADPEARAEAGEQPGTAERALLRD
QPRGRGQRGARQRRRTPRPLTSARAKAANVQEPEKKKKRRE
Sequence length 461
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Reactome Pathway
Major pathway of rRNA processing in the nucleolus and cytosol
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 Reference Evidence Score
Breast ductal adenocarcinoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations