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Aliases for PRPF18 Gene

Aliases for PRPF18 Gene

  • Pre-MRNA Processing Factor 18 2 3 5
  • PRP18 Homolog 3 4
  • HPrp18 3 4
  • PRP18 Pre-MRNA Processing Factor 18 Homolog (S. Cerevisiae) 2
  • PRP18 Pre-MRNA Processing Factor 18 Homolog (Yeast) 2
  • PRP18 Pre-MRNA Processing Factor 18 Homolog(PRPF18) 3
  • PRP18 Pre-MRNA Processing Factor 18 Homolog 3
  • Pre-MRNA-Splicing Factor 18 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. GO annotations related to this gene include potassium channel inhibitor activity. An important paralog of this gene is ENSG00000282246.

UniProtKB/Swiss-Prot for PRPF18 Gene

  • Participates in the second step of pre-mRNA splicing.

Additional gene information for PRPF18 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRPF18 Gene

Genomics for PRPF18 Gene

Regulatory Elements for PRPF18 Gene

Enhancers for PRPF18 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10H014184 1.3 Ensembl ENCODE 35.8 +598.7 598661 2.3 HNRNPUL1 FOXA2 MLX ARNT YY1 CEBPZ JUNB REST KAT8 ZNF585B ENSG00000239665 PRPF18 HSPA14 RPP38 DCLRE1C SEPHS1 ENSG00000273474 GC10P014189 LOC101928453
GH10H013586 1.1 ENCODE 25.8 +0.3 322 1.9 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 CBX5 ZNF207 PRPF18 BTBD7P1 GC10M013591
GH10H013345 2 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -237.8 -237762 7.3 PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF207 PHYH PRPF18 BTBD7P1 SEPHS1 GC10P013355 PIR45625
GH10H013756 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.2 +171.4 171436 3.5 HDGF PKNOX1 ZNF133 BMI1 FEZF1 BATF ZBTB40 ZNF143 ZNF207 ATF7 PRPF18 ENSG00000234091 RNA5SP301 ENSG00000225112 ENSG00000273474 NUTF2P5
GH10H013270 1.2 Ensembl ENCODE 10.8 -315.1 -315123 2.7 HDAC1 FOXA2 RB1 ARID4B DMAP1 ZBTB40 THRB RAD21 RARA YY1 ENSG00000273474 PRPF18 PHYH GC10P013279 UCMA
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PRPF18 on UCSC Golden Path with GeneCards custom track

Promoters for PRPF18 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000024678 174 1400 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 CBX5 ZNF207

Genomic Locations for PRPF18 Gene

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

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 isoforms=25
  • 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

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:

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 --
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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
peroxisome 2
cytosol 2

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 --
GO:0016607 nuclear speck IEA --
GO:0046540 U4/U6 x U5 tri-snRNP complex IBA --
genes like me logo Genes that share ontologies with PRPF18: view

Pathways & Interactions for PRPF18 Gene

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 --
GO:0006397 mRNA processing TAS 9000057
GO:0008380 RNA splicing TAS,IEA 9000057
GO:0071048 nuclear retention of unspliced pre-mRNA at the site of transcription IBA --
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

Unigene Clusters for PRPF18 Gene

PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
PRPF18

Expression for PRPF18 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for PRPF18 Gene



Protein tissue co-expression partners for PRPF18 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PRPF18 Gene:

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

Primer Products

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 33 34
  • 99.9 (n)
cow
(Bos Taurus)
Mammalia PRPF18 33 34
  • 93.08 (n)
dog
(Canis familiaris)
Mammalia PRPF18 33 34
  • 92.4 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 92 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Prpf18 33 16 34
  • 89.96 (n)
rat
(Rattus norvegicus)
Mammalia Prpf18 33
  • 89.67 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 89 (a)
ManyToMany
-- 34
  • 86 (a)
ManyToMany
-- 34
  • 86 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 34
  • 92 (a)
OneToMany
PRPF18 33
  • 80.99 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 90 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia prpf18 33
  • 77 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13654 33
zebrafish
(Danio rerio)
Actinopterygii prpf18 33 34
  • 72.32 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002307 33
  • 55 (n)
fruit fly
(Drosophila melanogaster)
Insecta Prp18 35 33 34
  • 54.75 (n)
worm
(Caenorhabditis elegans)
Secernentea F32B6.3 35 33 34
  • 50.05 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP18 34
  • 25 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G03140 33
  • 48.72 (n)
rice
(Oryza sativa)
Liliopsida Os07g0571900 33
  • 53.26 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9226 34
  • 54 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1876 33
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)

Paralogs for PRPF18 Gene

Paralogs for PRPF18 Gene

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

genes like me logo Genes that share paralogs with PRPF18: view

Variants for PRPF18 Gene

Sequence variations from dbSNP and Humsavar for PRPF18 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1000023371 -- 13,627,125(+) CCCTG(C/T)AGGGG intron-variant
rs1000109769 -- 13,616,161(+) TTTTA(C/T)TCACA intron-variant
rs1000111411 -- 13,592,358(+) TGTTT(A/T)AATTT intron-variant
rs1000247509 -- 13,592,625(+) CTGGT(A/G)TAACC intron-variant
rs1000267791 -- 13,632,080(+) CTCAC(A/G/T)CCTGT nc-transcript-variant, utr-variant-3-prime

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

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

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)

Relevant External Links for PRPF18 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRPF18 Gene

Disorders for PRPF18 Gene

Relevant External Links for PRPF18

Genetic Association Database (GAD)
PRPF18
Human Genome Epidemiology (HuGE) Navigator
PRPF18
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRPF18

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 22 60
  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 45 60
  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 45 60
  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 60
  5. A cyclophilin functions in pre-mRNA splicing. (PMID: 11823439) Horowitz DS … Misteli T (The EMBO journal 2002) 3 4 60

Products for PRPF18 Gene

Sources for PRPF18 Gene

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