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 function in protein-protein interactions. This protein has a sequence similarity to the yeast splicing factor Prp18. [provided by... See more...

Aliases for PRPF18 Gene

Aliases for PRPF18 Gene

  • Pre-MRNA Processing Factor 18 2 3 5
  • Pre-MRNA-Splicing Factor 18 3 4
  • PRP18 Homolog 3 4
  • HPRP18 4 4
  • PRP18 Pre-MRNA Processing Factor 18 Homolog (S. Cerevisiae) 2
  • PRP18 Pre-MRNA Processing Factor 18 Homolog(PRPF18) 3
  • PRP18 Pre-MRNA Processing Factor 18 Homolog (Yeast) 2
  • PRP18 Pre-MRNA Processing Factor 18 Homolog 3
  • HPrp18 3
  • PRP18 3

External Ids for PRPF18 Gene

Previous GeneCards Identifiers for PRPF18 Gene

  • GC10P013611
  • GC10P013779
  • GC10P013633
  • GC10P013669
  • GC10P013540
  • GC10P013628

Summaries for PRPF18 Gene

Entrez Gene Summary for PRPF18 Gene

  • 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 function in protein-protein interactions. This protein has a sequence similarity to the yeast splicing factor Prp18. [provided by RefSeq, Jul 2008]

GeneCards Summary for PRPF18 Gene

PRPF18 (Pre-MRNA Processing Factor 18) is a Protein Coding gene. Among its related pathways are mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include potassium channel inhibitor activity. An important paralog of this gene is ENSG00000282246.

UniProtKB/Swiss-Prot Summary for PRPF18 Gene

Additional gene information for PRPF18 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PRPF18 Gene

Genomics for PRPF18 Gene

GeneHancer (GH) Regulatory Elements for PRPF18 Gene

Promoters and enhancers for PRPF18 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J013586 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 516.1 +0.4 422 2.1 FOXK2 ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 TCF12 POLR2G SP1 PRPF18 piR-38580-029 lnc-FRMD4A-2
GH10J013630 Promoter 0.4 EPDnew 500.3 +43.3 43339 0.1 GATA3 ENSG00000239665 PRPF18 ENSG00000282246
GH10J013610 Promoter 0.3 EPDnew 500.4 +23.1 23130 0.1 ENSG00000282246 PRPF18 ENSG00000239665
GH10J013345 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.2 -237.8 -237834 7.4 CTCF ZSCAN5C SIN3A TCF12 MYC POLR2G PHF8 TEAD4 ZFX ZIC2 SEPHS1 lnc-MCM10-5 PHYH ENSG00000273474 BTBD7P1 PRPF18 lnc-PHYH-2 hsa-miR-5095-037
GH10J013756 Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.2 +171.4 171361 3.8 ZBTB40 SP1 TEAD4 EP300 ZBTB10 SAP30 RELA MEF2C RCOR1 TRIM22 ENSG00000234091 PRPF18 RNA5SP301 ENSG00000225112 ENSG00000273474 piR-35674-038 NUTF2P5 FRMD4A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRPF18 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PRPF18

Top Transcription factor binding sites by QIAGEN in the PRPF18 gene promoter:
  • Bach1
  • E47
  • GCNF
  • Lhx3a
  • LHX3b
  • POU2F1
  • POU2F1a
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for PRPF18 Gene

Genomic Locations for PRPF18 Gene
chr10:13,586,939-13,630,868
(GRCh38/hg38)
Size:
43,930 bases
Orientation:
Plus strand
chr10:13,628,927-13,672,868
(GRCh37/hg19)
Size:
43,942 bases
Orientation:
Plus strand

Genomic View for PRPF18 Gene

Genes around PRPF18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRPF18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRPF18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRPF18 Gene

Proteins for PRPF18 Gene

  • Protein details for PRPF18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99633-PRP18_HUMAN
    Recommended name:
    Pre-mRNA-splicing factor 18
    Protein Accession:
    Q99633
    Secondary Accessions:
    • Q5T9P9
    • Q9BUI9

    Protein attributes for PRPF18 Gene

    Size:
    342 amino acids
    Molecular mass:
    39860 Da
    Quaternary structure:
    • Heterodimer with PPIH. Interacts with PRPF4 and with the spliceosome. Part of a complex containing U4/U6 snRNPs.

    Three dimensional structures from OCA and Proteopedia for PRPF18 Gene

    Alternative splice isoforms for PRPF18 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRPF18 Gene

Post-translational modifications for PRPF18 Gene

  • Ubiquitination at Lys5
  • Modification sites at PhosphoSitePlus

Other Protein References for PRPF18 Gene

No data available for DME Specific Peptides for PRPF18 Gene

Domains & Families for PRPF18 Gene

Gene Families for PRPF18 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PRPF18 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PRPF18 Gene

GenScript: Design optimal peptide antigens:
  • PRP18 homolog (PRP18_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q99633

UniProtKB/Swiss-Prot:

PRP18_HUMAN :
  • Belongs to the PRP18 family.
Family:
  • Belongs to the PRP18 family.
genes like me logo Genes that share domains with PRPF18: view

Function for PRPF18 Gene

Molecular function for PRPF18 Gene

UniProtKB/Swiss-Prot Function:
Participates in the second step of pre-mRNA splicing.

Phenotypes From GWAS Catalog for PRPF18 Gene

Gene Ontology (GO) - Molecular Function for PRPF18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000386 contributes_to second spliceosomal transesterification activity IBA 21873635
genes like me logo Genes that share ontologies with PRPF18: view
genes like me logo Genes that share phenotypes with PRPF18: view

Animal Models for PRPF18 Gene

MGI Knock Outs for PRPF18:
  • Prpf18 Prpf18<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRPF18

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PRPF18 Gene

Localization for PRPF18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRPF18 Gene

Nucleus speckle. Note=Colocalizes with spliceosomal snRNPs. {ECO:0000250}.

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 PRPF18 gene
Compartment Confidence
nucleus 5
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PRPF18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 9000057
GO:0005681 spliceosomal complex IEA,TAS 9000057
GO:0005682 U5 snRNP IBA 21873635
GO:0016607 nuclear speck IEA --
GO:0046540 U4/U6 x U5 tri-snRNP complex IBA 21873635
genes like me logo Genes that share ontologies with PRPF18: view

Pathways & Interactions for PRPF18 Gene

PathCards logo

SuperPathways for PRPF18 Gene

SuperPathway Contained pathways
1 mRNA Splicing - Major Pathway
genes like me logo Genes that share pathways with PRPF18: view

Pathways by source for PRPF18 Gene

1 BioSystems pathway for PRPF18 Gene
1 KEGG pathway for PRPF18 Gene

Gene Ontology (GO) - Biological Process for PRPF18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000350 generation of catalytic spliceosome for second transesterification step IBA 21873635
GO:0006397 mRNA processing TAS 9000057
GO:0008380 RNA splicing IEA,TAS 9000057
GO:0071048 nuclear retention of unspliced pre-mRNA at the site of transcription IBA 21873635
genes like me logo Genes that share ontologies with PRPF18: view

No data available for SIGNOR curated interactions for PRPF18 Gene

Drugs & Compounds for PRPF18 Gene

No Compound Related Data Available

Transcripts for PRPF18 Gene

mRNA/cDNA for PRPF18 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRPF18

Alternative Splicing Database (ASD) splice patterns (SP) for PRPF18 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1: -
SP2: -
SP3:

Relevant External Links for PRPF18 Gene

GeneLoc Exon Structure for
PRPF18

Expression for PRPF18 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PRPF18 Gene

Protein differential expression in normal tissues from HIPED for PRPF18 Gene

This gene is overexpressed in Breast (40.4), Prostate (8.7), and Ovary (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PRPF18 Gene



Protein tissue co-expression partners for PRPF18 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PRPF18

SOURCE GeneReport for Unigene cluster for PRPF18 Gene:

Hs.729158

Evidence on tissue expression from TISSUES for PRPF18 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with PRPF18: 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 PRPF18 Gene

Orthologs for PRPF18 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PRPF18 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRPF18 31 30
  • 99.9 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PRPF18 31 30
  • 93.08 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PRPF18 31 30
  • 92.4 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 92 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Prpf18 17 31 30
  • 89.96 (n)
rat
(Rattus norvegicus)
Mammalia Prpf18 30
  • 89.67 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 89 (a)
ManyToMany
-- 31
  • 86 (a)
ManyToMany
-- 31
  • 86 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 31
  • 92 (a)
OneToMany
PRPF18 30
  • 80.99 (n)
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 90 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia prpf18 30
  • 77 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13654 30
zebrafish
(Danio rerio)
Actinopterygii prpf18 31 30
  • 72.32 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002307 30
  • 55 (n)
fruit fly
(Drosophila melanogaster)
Insecta Prp18 31 32 30
  • 54.75 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F32B6.3 31 32 30
  • 50.05 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP18 31
  • 25 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G03140 30
  • 48.72 (n)
rice
(Oryza sativa)
Liliopsida Os07g0571900 30
  • 53.26 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9226 31
  • 54 (a)
OneToMany
Cin.1876 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1876 30
Species where no ortholog for PRPF18 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 PRPF18 Gene

ENSEMBL:
Gene Tree for PRPF18 (if available)
TreeFam:
Gene Tree for PRPF18 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PRPF18: view image

Paralogs for PRPF18 Gene

Paralogs for PRPF18 Gene

(1) SIMAP similar genes for PRPF18 Gene using alignment to 4 proteins:

  • PRP18_HUMAN
  • L8E7W4_HUMAN
  • Q5T9P7_HUMAN
  • Q5T9P8_HUMAN
genes like me logo Genes that share paralogs with PRPF18: view

Variants for PRPF18 Gene

Additional dbSNP identifiers (rs#s) for PRPF18 Gene

Structural Variations from Database of Genomic Variants (DGV) for PRPF18 Gene

Variant ID Type Subtype PubMed ID
esv2761575 CNV gain 21179565
esv3891761 CNV gain 25118596
nsv831789 CNV gain+loss 17160897
nsv831790 CNV loss 17160897
nsv947743 CNV duplication 23825009

Variation tolerance for PRPF18 Gene

Residual Variation Intolerance Score: 26.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.54; 29.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRPF18 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRPF18

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PRPF18 Gene

Disorders for PRPF18 Gene

Additional Disease Information for PRPF18

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for PRPF18 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PRPF18 Gene

Publications for PRPF18 Gene

  1. A human protein required for the second step of pre-mRNA splicing is functionally related to a yeast splicing factor. (PMID: 9000057) Horowitz DS … Krainer AR (Genes & development 1997) 2 3 4 23 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 41 54
  4. 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
  5. A cyclophilin functions in pre-mRNA splicing. (PMID: 11823439) Horowitz DS … Misteli T (The EMBO journal 2002) 3 4 54

Products for PRPF18 Gene

Sources for PRPF18 Gene