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Aliases for PRPF18 Gene

Aliases for PRPF18 Gene

  • Pre-MRNA Processing Factor 18 2 3
  • PRP18 Homolog 3 4
  • HPrp18 3 4
  • PRP18 3 6
  • 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

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. Diseases associated with PRPF18 include pityriasis rubra pilaris and palmoplantar keratosis. Among its related pathways are Spliceosome and mRNA Splicing - Major Pathway. An important paralog of this gene is LOC101928524.

UniProtKB/Swiss-Prot for PRPF18 Gene

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

No data available for 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PRPF18 Gene

Start:
13,586,927 bp from pter
End:
13,630,868 bp from pter
Size:
43,942 bases
Orientation:
Plus strand

Genomic View for PRPF18 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for PRPF18 Gene at MOPED

Post-translational modifications for PRPF18 Gene

  • Ubiquitination at Lys5
  • Modification sites at PhosphoSitePlus

Other Protein References for PRPF18 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PRPF18 Gene

Domains for PRPF18 Gene

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 :
  • Q99633
Family:
  • Belongs to the PRP18 family.
genes like me logo Genes that share domains with PRPF18: view

No data available for Gene Families for PRPF18 Gene

Function for PRPF18 Gene

Molecular function for PRPF18 Gene

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

Gene Ontology (GO) - Molecular Function for PRPF18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019870 potassium channel inhibitor activity IEA --
genes like me logo Genes that share ontologies with PRPF18: view

Phenotypes for PRPF18 Gene

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

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PRPF18

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for PRPF18 Gene COMPARTMENTS Subcellular localization image for PRPF18 gene
Compartment Confidence
nucleus 4
cytosol 2
peroxisome 2
mitochondrion 1

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 --
GO:0016607 nuclear speck IEA --
genes like me logo Genes that share ontologies with PRPF18: view

Pathways for PRPF18 Gene

SuperPathways for PRPF18 Gene

Superpath Contained pathways
1 Spliceosome
2 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

Interacting Proteins for PRPF18 Gene

Gene Ontology (GO) - Biological Process for PRPF18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with PRPF18: view

Transcripts for PRPF18 Gene

Unigene Clusters for PRPF18 Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PRPF18

Primer Products

Flow Cytometry 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 for PRPF18 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PRPF18 Gene

SOURCE GeneReport for Unigene cluster for PRPF18 Gene Hs.729158

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

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 35
  • 99.9 (n)
  • 100 (a)
PRPF18 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PRPF18 35
  • 93.08 (n)
  • 99.12 (a)
PRPF18 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRPF18 35
  • 92.4 (n)
  • 99.42 (a)
PRPF18 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prpf18 35
  • 89.96 (n)
  • 99.12 (a)
Prpf18 16
Prpf18 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 86 (a)
ManyToMany
-- 36
  • 89 (a)
ManyToMany
-- 36
  • 86 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 92 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Prpf18 35
  • 89.67 (n)
  • 98.83 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 92 (a)
OneToMany
PRPF18 35
  • 80.99 (n)
  • 92.4 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 90 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.13654 35
tropical clawed frog
(Silurana tropicalis)
Amphibia prpf18 35
  • 77 (n)
  • 87.72 (a)
zebrafish
(Danio rerio)
Actinopterygii prpf18 35
  • 72.32 (n)
  • 85.09 (a)
prpf18 36
  • 85 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002307 35
  • 55 (n)
  • 52.52 (a)
fruit fly
(Drosophila melanogaster)
Insecta Prp18 35
  • 54.75 (n)
  • 52.25 (a)
Prp18 36
  • 51 (a)
OneToMany
Prp18 37
  • 51 (a)
worm
(Caenorhabditis elegans)
Secernentea F32B6.3 35
  • 50.05 (n)
  • 40.73 (a)
F32B6.3 36
  • 38 (a)
OneToMany
F32B6.3 37
  • 38 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP18 36
  • 25 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G03140 35
  • 48.72 (n)
  • 40.53 (a)
rice
(Oryza sativa)
Liliopsida Os07g0571900 35
  • 53.26 (n)
  • 44.92 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1876 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9226 36
  • 54 (a)
OneToMany
Species with no ortholog for PRPF18:
  • 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

Selected 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 MAF
rs943088 -- 13,608,236(+) TCTTT(A/C)TTGTG intron-variant
rs957916 -- 13,603,271(+) CTTTA(G/T)TCTCT intron-variant
rs1135102 -- 13,611,653(-) ATGTC(C/T)TTATG reference, synonymous-codon
rs1326209 -- 13,599,621(+) TGTTT(C/T)CCTGG intron-variant
rs1409322 -- 13,600,086(+) CTTTT(A/G)TAAGC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv831789 CNV Gain+Loss 17160897
nsv831790 CNV Loss 17160897

Relevant External Links for PRPF18 Gene

HapMap Linkage Disequilibrium report
PRPF18

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

Disorders for PRPF18 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for PRPF18 Gene including...

Search for PRPF18 Gene in MalaCards »

(2) University of Copenhagen DISEASES for PRPF18 Gene

Relevant External Links for PRPF18

Genetic Association Database (GAD)
PRPF18
Human Genome Epidemiology (HuGE) Navigator
PRPF18
genes like me logo Genes that share disorders with PRPF18: view

No data available for UniProtKB/Swiss-Prot 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 D.S. … Krainer A.R. (Genes Dev. 1997) 2 3 4 23
  2. A cyclophilin functions in pre-mRNA splicing. (PMID: 11823439) Horowitz D.S. … Misteli T. (EMBO J. 2002) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 48
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48

Products for PRPF18 Gene

  • antibodies-online proteins for PRPF18
  • antibodies-online antibodies for PRPF18
  • antibodies-online kits for PRPF18

Sources for PRPF18 Gene

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