Gene Gene information from NCBI Gene database.
Entrez ID 10171
Gene name RNA terminal phosphate cyclase like 1
Gene symbol RCL1
Synonyms (NCBI Gene)
RNACRPCL1
Chromosome 9
Chromosome location 9p24.1
miRNA miRNA information provided by mirtarbase database.
124
miRTarBase ID miRNA Experiments Reference
MIRT031762 hsa-miR-16-5p Proteomics 18668040
MIRT031762 hsa-miR-16-5p CLASH 23622248
MIRT1298316 hsa-miR-1225-3p CLIP-seq
MIRT1298317 hsa-miR-1228 CLIP-seq
MIRT1298318 hsa-miR-1245b-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0000447 Process 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) IEA
GO:0000479 Process Endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
GO:0000480 Process Endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IEA
GO:0003824 Function Catalytic activity IEA
GO:0004521 Function RNA endonuclease activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611405 17687 ENSG00000120158
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y2P8
Protein name RNA 3'-terminal phosphate cyclase-like protein
Protein function As part of the small subunit (SSU) processome, it plays a role in 40S-ribosomal-subunit biogenesis in the early pre-rRNA processing steps at sites A0, A1 and A2 that are required for proper maturation of the 18S RNA (By similarity). Activates BM
PDB 7MQ8 , 7MQ9 , 7MQA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01137 RTC 8 341 Domain
PF05189 RTC_insert 183 288 Domain
Sequence
Sequence length 373
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ribosome biogenesis in eukaryotes   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.).
8
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Psychotic disorder Pathogenic rs1816786087 RCV001376129
★★★★☆
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
ALZHEIMER'S DISEASE NEUROPATHOLOGIC CHANGE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
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
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CTD_human_DG 27602772
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 24475105, 35441810 Associate
★☆☆☆☆
Found in Text Mining only
Catatonia Catatonia Pubtator 33597717 Associate
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn Disease BEFREE 31235766
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn disease Pubtator 31235766 Associate
★☆☆☆☆
Found in Text Mining only
Depressive disorder Mental Depression BEFREE 28322274
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★☆☆☆☆
Found in Text Mining only
Mental Depression Mental Depression BEFREE 28322274
★☆☆☆☆
Found in Text Mining only
Mood Disorders Mood disorder Pubtator 33597717 Associate
★☆☆☆☆
Found in Text Mining only
Paranoid Disorders Paranoia Pubtator 33597717 Associate
★☆☆☆☆
Found in Text Mining only