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Aliases for PRPF8 Gene

Aliases for PRPF8 Gene

  • Pre-MRNA Processing Factor 8 2 3
  • PRPC8 3 4 6
  • 220 KDa U5 SnRNP-Specific Protein 3 4
  • Splicing Factor Prp8 3 4
  • PRP8 Homolog 3 4
  • P220 3 4
  • RP13 3 6
  • U5 SnRNP-Specific Protein (220 KD), Ortholog Of S. Cerevisiae Prp8p 3
  • PRP8 Pre-MRNA Processing Factor 8 Homolog (S. Cerevisiae) 2
  • PRP8 Pre-MRNA Processing Factor 8 Homolog (Yeast) 2
  • PRP8 Pre-MRNA Processing Factor 8 Homolog 3
  • Pre-MRNA-Processing-Splicing Factor 8 3
  • Precursor MRNA Processing Protein 3
  • Apoptosis-Regulated Protein 1 3
  • Apoptosis-Regulated Protein 2 3
  • SNRNP220 3
  • HPRP8 3
  • PRP8 3

External Ids for PRPF8 Gene

Previous Symbols for PRPF8 Gene

  • RP13

Summaries for PRPF8 Gene

Entrez Gene Summary for PRPF8 Gene

  • Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. [provided by RefSeq, Jul 2008]

GeneCards Summary for PRPF8 Gene

PRPF8 (Pre-MRNA Processing Factor 8) is a Protein Coding gene. Diseases associated with PRPF8 include retinitis pigmentosa 13 and prpf8-related retinitis pigmentosa. Among its related pathways are Gene Expression and Spliceosome. GO annotations related to this gene include U6 snRNA binding and U5 snRNA binding.

UniProtKB/Swiss-Prot for PRPF8 Gene

  • Functions as a scaffold that mediates the ordered assembly of spliceosomal proteins and snRNAs. Required for the assembly of the U4/U6-U5 tri-snRNP complex. Functions as scaffold that positions spliceosomal U2, U5 and U6 snRNAs at splice sites on pre-mRNA substrates, so that splicing can occur. Interacts with both the 5 and the 3 splice site.

Gene Wiki entry for PRPF8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRPF8 Gene

Genomics for PRPF8 Gene

Genomic Location for PRPF8 Gene

Start:
1,650,629 bp from pter
End:
1,684,882 bp from pter
Size:
34,254 bases
Orientation:
Minus strand

Genomic View for PRPF8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PRPF8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRPF8 Gene

Regulatory Elements for PRPF8 Gene

Proteins for PRPF8 Gene

  • Protein details for PRPF8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P2Q9-PRP8_HUMAN
    Recommended name:
    Pre-mRNA-processing-splicing factor 8
    Protein Accession:
    Q6P2Q9
    Secondary Accessions:
    • O14547
    • O75965

    Protein attributes for PRPF8 Gene

    Size:
    2335 amino acids
    Molecular mass:
    273600 Da
    Quaternary structure:
    • Part of the U5 snRNP complex. Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, NHP2L1, EFTUD2, SART1 and USP39. Component of the U5.U4atac/U6atac snRNP complexes in U12-dependent spliceosomes. Found in a mRNA splicing-dependent exon junction complex (EJC) with SRRM1. Interacts with U5 snRNP proteins SNRP116 and SNRNP40. Interacts with EFTUD2 and SNRNP200. Interacts (via the MPN (JAB/Mov34) domain) with PRPF3 (Lys-63-linked polyubiquitinated); may stabilize the U4/U6-U5 tri-snRNP complex.

    Three dimensional structures from OCA and Proteopedia for PRPF8 Gene

neXtProt entry for PRPF8 Gene

Proteomics data for PRPF8 Gene at MOPED

Post-translational modifications for PRPF8 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys36, Lys43, Lys93, Lys218, Lys267, Lys278, Lys301, Lys428, Lys442, Lys452, Lys460, Lys480, Lys525, Lys609, Lys702, Lys705, Lys727, Lys746, Lys785, Lys932, Lys1020, Lys1158, Lys1210, Lys1222, Lys1300, Lys1344, Lys1392, Lys1434, Lys1443, Lys1449, Lys1463, Lys1732, Lys1735, Lys1792, Lys1801, Lys1859, Lys1866, Lys1901, Lys2034, Lys2049, Lys2070, and Lys2140

Other Protein References for PRPF8 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for PRPF8 Gene

Domains for PRPF8 Gene

Suggested Antigen Peptide Sequences for PRPF8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6P2Q9

UniProtKB/Swiss-Prot:

PRP8_HUMAN
Domain:
  • The MPN (JAB/Mov34) domain has structural similarity with deubiquitinating enzymes, but lacks the residues that would bind the catalytic metal ion.:
    • Q6P2Q9
  • Contains a region with structural similarity to reverse transcripase, presenting the classical thumb, fingers and palm architecture, but lacks enzyme activity, since the essential metal-binding residues are not conserved.:
    • Q6P2Q9
  • Contains a region with structural similarity to type-2 restriction endonucleases, but the residues that would bind catalytic metal ions in endonucleases are instead involved in hydrogen bonds that stabilize the protein structure.:
    • Q6P2Q9
  • Contains a region with structural similarity to RNase H, but lacks RNase H activity.:
    • Q6P2Q9
  • Contains 1 MPN (JAB/Mov34) domain.:
    • Q6P2Q9
genes like me logo Genes that share domains with PRPF8: view

No data available for Gene Families for PRPF8 Gene

Function for PRPF8 Gene

Molecular function for PRPF8 Gene

UniProtKB/Swiss-Prot Function: Functions as a scaffold that mediates the ordered assembly of spliceosomal proteins and snRNAs. Required for the assembly of the U4/U6-U5 tri-snRNP complex. Functions as scaffold that positions spliceosomal U2, U5 and U6 snRNAs at splice sites on pre-mRNA substrates, so that splicing can occur. Interacts with both the 5 and the 3 splice site.

Gene Ontology (GO) - Molecular Function for PRPF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000386 second spliceosomal transesterification activity IBA --
GO:0003723 RNA binding --
GO:0005515 protein binding IPI 18951082
GO:0017070 U6 snRNA binding IBA --
GO:0030619 U1 snRNA binding IBA --
genes like me logo Genes that share ontologies with PRPF8: view
genes like me logo Genes that share phenotypes with PRPF8: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for PRPF8 Gene

Localization for PRPF8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRPF8 Gene

Nucleus speckle.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PRPF8 Gene COMPARTMENTS Subcellular localization image for PRPF8 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
golgi apparatus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PRPF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 22720776
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex --
GO:0005682 U5 snRNP TAS 9774689
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with PRPF8: view

Pathways for PRPF8 Gene

genes like me logo Genes that share pathways with PRPF8: view

Pathways by source for PRPF8 Gene

1 KEGG pathway for PRPF8 Gene

Gene Ontology (GO) - Biological Process for PRPF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000244 spliceosomal tri-snRNP complex assembly IDA 20595234
GO:0000375 RNA splicing, via transesterification reactions TAS 9774689
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006397 mRNA processing TAS 9774689
GO:0008380 RNA splicing TAS 9774689
genes like me logo Genes that share ontologies with PRPF8: view

Compounds for PRPF8 Gene

(7) Novoseek inferred chemical compound relationships for PRPF8 Gene

Compound -log(P) Hits PubMed IDs
ciap2 87.7 3
palmitate 25.2 2
rantes 15.1 1
cycloheximide 0.43 1
gtp 0 2
genes like me logo Genes that share compounds with PRPF8: view

Transcripts for PRPF8 Gene

Unigene Clusters for PRPF8 Gene

PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PRPF8 Gene

No ASD Table

Relevant External Links for PRPF8 Gene

GeneLoc Exon Structure for
PRPF8
ECgene alternative splicing isoforms for
PRPF8

Expression for PRPF8 Gene

mRNA expression in normal human tissues for PRPF8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PRPF8 Gene

SOURCE GeneReport for Unigene cluster for PRPF8 Gene Hs.181368

mRNA Expression by UniProt/SwissProt for PRPF8 Gene

Q6P2Q9-PRP8_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expressions with PRPF8: view

No data available for mRNA differential expression in normal tissues for PRPF8 Gene

Orthologs for PRPF8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PRPF8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRPF8 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PRPF8 35
  • 92.58 (n)
  • 100 (a)
PRPF8 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRPF8 35
  • 92.51 (n)
  • 100 (a)
PRPF8 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prpf8 35
  • 90.71 (n)
  • 99.91 (a)
Prpf8 16
Prpf8 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PRPF8 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRPF8 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prpf8 35
  • 90.96 (n)
  • 99.91 (a)
chicken
(Gallus gallus)
Aves PRPF8 35
  • 83.01 (n)
  • 99.44 (a)
PRPF8 36
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRPF8 36
  • 98 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia prp-8-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia prpf8 35
  • 80.43 (n)
  • 98.76 (a)
Str.10952 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9025 35
zebrafish
(Danio rerio)
Actinopterygii prpf8 35
  • 82.13 (n)
  • 97.9 (a)
prpf8 36
  • 98 (a)
OneToOne
zgc56504 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006885 35
  • 77.04 (n)
  • 92.47 (a)
fruit fly
(Drosophila melanogaster)
Insecta Prp8 35
  • 76.37 (n)
  • 91.67 (a)
Prp8 36
  • 89 (a)
OneToOne
CG8877 37
  • 94 (a)
worm
(Caenorhabditis elegans)
Secernentea prp-8 35
  • 71.44 (n)
  • 87.01 (a)
prp-8 36
  • 87 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR207W 35
  • 60.01 (n)
  • 63.08 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP8 35
  • 59.48 (n)
  • 63.47 (a)
PRP8 36
  • 60 (a)
OneToOne
PRP8 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A05280g 35
  • 59.21 (n)
  • 62.51 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3247 35
soybean
(Glycine max)
eudicotyledons Gma.11337 35
thale cress
(Arabidopsis thaliana)
eudicotyledons SUS2 35
  • 71.34 (n)
  • 83.38 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.3031 35
corn
(Zea mays)
Liliopsida Zm.6553 35
rice
(Oryza sativa)
Liliopsida Os.4209 35
Os06g0167000 35
  • 73.13 (n)
  • 85.71 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.5935 35
bread mold
(Neurospora crassa)
Ascomycetes NCU07832 35
  • 67.41 (n)
  • 72.97 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes spp42 35
  • 64.58 (n)
  • 74.4 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4625 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2876 36
  • 86 (a)
OneToOne
Species with no ortholog for PRPF8:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PRPF8 Gene

ENSEMBL:
Gene Tree for PRPF8 (if available)
TreeFam:
Gene Tree for PRPF8 (if available)

Paralogs for PRPF8 Gene

No data available for Paralogs for PRPF8 Gene

Variants for PRPF8 Gene

Sequence variations from dbSNP and Humsavar for PRPF8 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs953338 -- 1,680,956(+) GAAGA(C/G/T)TGTTG reference, missense
rs1043391 - 1,683,600(-) TCAGG(A/G)AGATC reference, missense
rs1043392 -- 1,682,212(-) GTGCC(C/T)GTGCT synonymous-codon, reference
rs1043393 -- 1,680,994(-) ATCCG(C/G)ACTGA reference, synonymous-codon
rs1043394 -- 1,680,795(-) ACTGA(A/G)GATCC synonymous-codon, reference

Structural Variations from Database of Genomic Variants (DGV) for PRPF8 Gene

Variant ID Type Subtype PubMed ID
nsv907502 CNV Loss 21882294
nsv907511 CNV Loss 21882294
nsv907513 CNV Loss 21882294
nsv907515 CNV Loss 21882294
dgv3032n71 CNV Loss 21882294
nsv907517 CNV Loss 21882294
esv29703 CNV Loss 19812545
nsv827856 CNV Gain 20364138
nsv9490 CNV Loss 18304495

Relevant External Links for PRPF8 Gene

HapMap Linkage Disequilibrium report
PRPF8
Human Gene Mutation Database (HGMD)
PRPF8
Locus Specific Mutation Databases (LSDB)
PRPF8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRPF8 Gene

Disorders for PRPF8 Gene

(1) OMIM Diseases for PRPF8 Gene (607300)

UniProtKB/Swiss-Prot

PRP8_HUMAN
  • Retinitis pigmentosa 13 (RP13) [MIM:600059]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:11468273, ECO:0000269 PubMed:11910553, ECO:0000269 PubMed:12714658, ECO:0000269 Ref.33}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for PRPF8 Gene

(4) Novoseek inferred disease relationships for PRPF8 Gene

Disease -log(P) Hits PubMed IDs
retinitis pigmentosa 67 10
necrosis 42.2 4
tumors 31.3 5
inflammation 13.7 1

Relevant External Links for PRPF8

Genetic Association Database (GAD)
PRPF8
Human Genome Epidemiology (HuGE) Navigator
PRPF8
genes like me logo Genes that share disorders with PRPF8: view

Publications for PRPF8 Gene

  1. The human U5-220kD protein (hPrp8) forms a stable RNA-free complex with several U5-specific proteins, including an RNA unwindase, a homologue of ribosomal elongation factor EF-2, and a novel WD-40 protein. (PMID: 9774689) Achsel T. … Luehrmann R. (Mol. Cell. Biol. 1998) 3 4 23
  2. The C-terminal region of hPrp8 interacts with the conserved GU dinucleotide at the 5' splice site. (PMID: 10024169) Reyes J.L. … Konarska M.M. (RNA 1999) 3 4 23
  3. Prp8 protein: at the heart of the spliceosome. (PMID: 15840809) Grainger R.J. … Beggs J.D. (RNA 2005) 3 4 23
  4. Structure of a multipartite protein-protein interaction domain in splicing factor Prp8 and its link to retinitis pigmentosa. (PMID: 17317632) Pena V. … Wahl M.C. (Mol. Cell 2007) 3 4 23
  5. Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa. (PMID: 12714658) Martinez-Gimeno M. … Carballo M. (Invest. Ophthalmol. Vis. Sci. 2003) 3 4 23

Products for PRPF8 Gene

Sources for PRPF8 Gene

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