Gene Gene information from NCBI Gene database.
Entrez ID 8559
Gene name Pre-mRNA processing factor 18
Gene symbol PRPF18
Synonyms (NCBI Gene)
PRP18hPrp18
Chromosome 10
Chromosome location 10p13
Summary Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which func
miRNA miRNA information provided by mirtarbase database.
67
miRTarBase ID miRNA Experiments Reference
MIRT1265321 hsa-miR-369-3p CLIP-seq
MIRT1265322 hsa-miR-374a CLIP-seq
MIRT1265323 hsa-miR-374b CLIP-seq
MIRT1265324 hsa-miR-4724-5p CLIP-seq
MIRT2078013 hsa-miR-2115 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0000350 Process Generation of catalytic spliceosome for second transesterification step IBA
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus TAS 9000057
GO:0005654 Component Nucleoplasm TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604993 17351 ENSG00000165630
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99633
Protein name Pre-mRNA-splicing factor 18 (PRP18 homolog) (hPRP18)
Protein function Participates in the second step of pre-mRNA splicing.
PDB 2DK4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08799 PRP4 84 112 pre-mRNA processing factor 4 (PRP4) like Domain
PF02840 Prp18 189 331 Prp18 domain Family
Sequence
MDILKSEILRKRQLVEDRNLLVENKKYFKRSELAKKEEEAYFERCGYKIQPKEEDQKPLT
SSNPVLELELAEEKLPMTLSRQEVIRRLRERGEPIRLFGETDYDAFQRLRKIEILTPEVN
KGLRNDLKAALDKIDQQYLNEIVGGQEPGEEDTQNDLKVHEENTTIEELEALGESLGKGD
DHKDMDIITKFLKFLLGVWAKELNAREDYVKRSVQGKLNSATQKQTESYLRPLFRKLRKR
NLPADIKESITDIIKFMLQREYVKANDAYLQMAIGNAPWPIGVTMVGIHARTGREKIFSK
HVAHVLNDETQRKYIQGLKRLMTICQKHFPT
DPSKCVEYNAL
Sequence length 342
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Spliceosome  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
HEMORRHOID GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUPUS NEPHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Influenza Human Associate 27852861
★☆☆☆☆
Found in Text Mining only