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Aliases for PRPF31 Gene

Aliases for PRPF31 Gene

  • Pre-MRNA Processing Factor 31 2 3 5
  • Serologically Defined Breast Cancer Antigen NY-BR-99 3 4
  • U4/U6 SnRNP 61 KDa Protein 3 4
  • Protein 61K 3 4
  • HPrp31 3 4
  • PRP31 3 4
  • PRP31 Pre-MRNA Processing Factor 31 Homolog (S. Cerevisiae) 2
  • PRP31 Pre-MRNA Processing Factor 31 Homolog (Yeast) 2
  • PRP31 Pre-MRNA Processing Factor 31 Homolog 3
  • U4/U6 Small Nuclear Ribonucleoprotein Prp31 3
  • Pre-MRNA-Processing Factor 31 4
  • NY-BR-99 3
  • SNRNP61 3
  • RP11 3

External Ids for PRPF31 Gene

Previous HGNC Symbols for PRPF31 Gene

  • RP11

Previous GeneCards Identifiers for PRPF31 Gene

  • GC19P055264
  • GC19P055043
  • GC19P059294
  • GC19P059310
  • GC19P054618
  • GC19P050934

Summaries for PRPF31 Gene

Entrez Gene Summary for PRPF31 Gene

  • This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[provided by RefSeq, Jan 2009]

GeneCards Summary for PRPF31 Gene

PRPF31 (Pre-MRNA Processing Factor 31) is a Protein Coding gene. Diseases associated with PRPF31 include Retinitis Pigmentosa 11 and Prpf31-Related Retinitis Pigmentosa. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. GO annotations related to this gene include poly(A) RNA binding and snRNP binding.

UniProtKB/Swiss-Prot for PRPF31 Gene

  • Involved in pre-mRNA splicing. Required for the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome.

Gene Wiki entry for PRPF31 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRPF31 Gene

Genomics for PRPF31 Gene

Regulatory Elements for PRPF31 Gene

Enhancers for PRPF31 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
GH19F054199 1 FANTOM5 ENCODE 34.1 +90.3 90335 12.1 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 LILRB5 PRPF31 RPS9 LILRB3 LILRA6 LILRA2 ZNF765 ZNF525 LILRA4 ENSG00000269288
GH19F055009 0.2 Ensembl 30.6 +892.7 892725 0.2 KLF1 NFRKB GLI4 BCL11B ZNF335 ZNF791 TRIM24 ZBTB20 ZBTB10 RFX1 PRPF31 LENG8-AS1 U2AF2 ENSG00000235681 GP6 ENSG00000267265
GH19F054186 0.2 ENCODE 26.6 +74.2 74246 6.8 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF302 PRPF31 ZNF845 LENG1 LENG8-AS1 ZNF525 ENSG00000235681 LILRB3 LILRA6 ENSG00000249189 LILRB5
GH19F053977 0.6 ENCODE 25.9 -135.4 -135415 5.8 PKNOX1 CREB3L1 SIN3A FEZF1 ZNF2 ZNF143 ZNF263 SP3 NFYC REST PRPF31 ZNF347 ZNF665 ERVV-2 CACNG8 CDC42EP5 MIR519A2 BIRC8 FAM90A28P ENSG00000269758
GH19F055062 1 ENCODE 20.7 +947.5 947504 1.7 PKNOX1 ATF1 SIN3A DMAP1 ZNF48 BRCA1 GTF3C2 GLIS2 ELK1 FOS ENSG00000235681 LENG8-AS1 U2AF2 ZNF581 ENSG00000267523 RDH13 PRPF31 ENSG00000267265 ZNF628 ENSG00000267096
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PRPF31 on UCSC Golden Path with GeneCards custom track

Promoters for PRPF31 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000348799 -76 2601 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Location for PRPF31 Gene

Chromosome:
19
Start:
54,115,376 bp from pter
End:
54,131,719 bp from pter
Size:
16,344 bases
Orientation:
Plus strand

Genomic View for PRPF31 Gene

Genes around PRPF31 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRPF31 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRPF31 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRPF31 Gene

Proteins for PRPF31 Gene

  • Protein details for PRPF31 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WWY3-PRP31_HUMAN
    Recommended name:
    U4/U6 small nuclear ribonucleoprotein Prp31
    Protein Accession:
    Q8WWY3
    Secondary Accessions:
    • E7ESA8
    • F1T0A4
    • Q17RB4
    • Q8N7F9
    • Q9H271
    • Q9Y439

    Protein attributes for PRPF31 Gene

    Size:
    499 amino acids
    Molecular mass:
    55456 Da
    Quaternary structure:
    • 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, SNU13, EFTUD2, SART1 and USP39. Interacts with a complex formed by SNU13 and U4 snRNA, but not with SNU13 or U4 snRNA alone. Interacts with PRPF6/U5 snRNP-associated 102 kDa protein. Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Interacts (via its NLS) with CTNNBL1.

    Three dimensional structures from OCA and Proteopedia for PRPF31 Gene

    Alternative splice isoforms for PRPF31 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRPF31 Gene

Post-translational modifications for PRPF31 Gene

  • Ubiquitination at Lys 417, Lys 430, and Lys 478
  • Modification sites at PhosphoSitePlus

Other Protein References for PRPF31 Gene

No data available for DME Specific Peptides for PRPF31 Gene

Domains & Families for PRPF31 Gene

Protein Domains for PRPF31 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WWY3

UniProtKB/Swiss-Prot:

PRP31_HUMAN :
  • Interacts with the snRNP via the Nop domain.
  • Belongs to the PRP31 family.
Domain:
  • Interacts with the snRNP via the Nop domain.
  • The coiled coil domain is formed by two non-contiguous helices.
  • Contains 1 Nop domain.
Family:
  • Belongs to the PRP31 family.
genes like me logo Genes that share domains with PRPF31: view

No data available for Gene Families for PRPF31 Gene

Function for PRPF31 Gene

Molecular function for PRPF31 Gene

UniProtKB/Swiss-Prot Function:
Involved in pre-mRNA splicing. Required for the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome.

Gene Ontology (GO) - Molecular Function for PRPF31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 21385873
GO:0030621 U4 snRNA binding IDA 16857676
GO:0030622 U4atac snRNA binding IDA 16857676
GO:0043021 ribonucleoprotein complex binding IDA 11867543
genes like me logo Genes that share ontologies with PRPF31: view
genes like me logo Genes that share phenotypes with PRPF31: view

Human Phenotype Ontology for PRPF31 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRPF31 Gene

MGI Knock Outs for PRPF31:

Animal Model Products

miRNA for PRPF31 Gene

miRTarBase miRNAs that target PRPF31

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PRPF31 Gene

Localization for PRPF31 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRPF31 Gene

Nucleus speckle. Nucleus, Cajal body. Note=Predominantly found in speckles and in Cajal bodies.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PRPF31 Gene COMPARTMENTS Subcellular localization image for PRPF31 gene
Compartment Confidence
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for PRPF31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IEA --
GO:0005684 U2-type spliceosomal complex IC 17412961
GO:0005687 U4 snRNP IDA 17412961
genes like me logo Genes that share ontologies with PRPF31: view

Pathways & Interactions for PRPF31 Gene

genes like me logo Genes that share pathways with PRPF31: view

Pathways by source for PRPF31 Gene

Gene Ontology (GO) - Biological Process for PRPF31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000244 spliceosomal tri-snRNP complex assembly IMP 15257298
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
GO:0048254 NOT snoRNA localization IMP 17636026
genes like me logo Genes that share ontologies with PRPF31: view

No data available for SIGNOR curated interactions for PRPF31 Gene

Transcripts for PRPF31 Gene

Unigene Clusters for PRPF31 Gene

PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRPF31 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1: -
SP2:
SP3: -
SP4:

Relevant External Links for PRPF31 Gene

GeneLoc Exon Structure for
PRPF31
ECgene alternative splicing isoforms for
PRPF31

Expression for PRPF31 Gene

mRNA expression in normal human tissues for PRPF31 Gene

Protein differential expression in normal tissues from HIPED for PRPF31 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.3) and Blymphocyte (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PRPF31 Gene



Protein tissue co-expression partners for PRPF31 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PRPF31 Gene:

PRPF31

SOURCE GeneReport for Unigene cluster for PRPF31 Gene:

Hs.515598

mRNA Expression by UniProt/SwissProt for PRPF31 Gene:

Q8WWY3-PRP31_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with PRPF31: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PRPF31 Gene

Orthologs for PRPF31 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PRPF31 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRPF31 34 35
  • 99.27 (n)
oppossum
(Monodelphis domestica)
Mammalia PRPF31 35
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PRPF31 34 35
  • 92.92 (n)
dog
(Canis familiaris)
Mammalia PRPF31 34 35
  • 91.38 (n)
mouse
(Mus musculus)
Mammalia Prpf31 34 16 35
  • 89.58 (n)
rat
(Rattus norvegicus)
Mammalia Prpf31 34
  • 88.98 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PRPF31 35
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRPF31 35
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prpf31 34
  • 75.16 (n)
Str.2964 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.5894 34
zebrafish
(Danio rerio)
Actinopterygii prpf31 34 35
  • 75.67 (n)
zgc66177 34
fruit fly
(Drosophila melanogaster)
Insecta Prp31 34 35
  • 65.03 (n)
CG6876 36
  • 63 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012142 34
  • 53.9 (n)
worm
(Caenorhabditis elegans)
Secernentea prp-31 34 35
  • 50.33 (n)
Y110A7A.8 36
  • 47 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP31 35 37
  • 24 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons emb1220 34
  • 50.84 (n)
rice
(Oryza sativa)
Liliopsida Os04g0555400 34
  • 51.45 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9354 35
  • 59 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU02716 34
  • 50.04 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes prp31 34
  • 45.86 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2747 34
Species where no ortholog for PRPF31 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)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • 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 PRPF31 Gene

ENSEMBL:
Gene Tree for PRPF31 (if available)
TreeFam:
Gene Tree for PRPF31 (if available)

Paralogs for PRPF31 Gene

(1) SIMAP similar genes for PRPF31 Gene using alignment to 10 proteins:

genes like me logo Genes that share paralogs with PRPF31: view

No data available for Paralogs for PRPF31 Gene

Variants for PRPF31 Gene

Sequence variations from dbSNP and Humsavar for PRPF31 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs119475042 Retinitis pigmentosa 11 (RP11) [MIM:600138]
rs119475043 Retinitis pigmentosa 11 (RP11) [MIM:600138]

Structural Variations from Database of Genomic Variants (DGV) for PRPF31 Gene

Variant ID Type Subtype PubMed ID
esv1131677 CNV deletion 17803354
esv2718812 CNV deletion 23290073
nsv2543 CNV insertion 18451855
nsv2545 CNV insertion 18451855
nsv470157 CNV loss 18288195
nsv510773 CNV deletion 20534489
nsv515623 CNV loss 19592680
nsv833877 CNV loss 17160897
nsv953613 CNV deletion 24416366

Variation tolerance for PRPF31 Gene

Residual Variation Intolerance Score: 12.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.42; 9.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRPF31 Gene

Human Gene Mutation Database (HGMD)
PRPF31
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRPF31

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRPF31 Gene

Disorders for PRPF31 Gene

MalaCards: The human disease database

(7) MalaCards diseases for PRPF31 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 11
  • rp11
prpf31-related retinitis pigmentosa
  • retinitis pigmentosa 11
retinitis pigmentosa
  • retinitis pigmentosa 1
hermansky-pudlak syndrome 2
  • hermansky pudlak syndrome 2
hypoparathyroidism-retardation-dysmorphism syndrome
  • hrd syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PRP31_HUMAN
  • Retinitis pigmentosa 11 (RP11) [MIM:600138]: 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:11545739, ECO:0000269 PubMed:12923864, ECO:0000269 PubMed:8808602}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PRPF31

Genetic Association Database (GAD)
PRPF31
Human Genome Epidemiology (HuGE) Navigator
PRPF31
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRPF31
genes like me logo Genes that share disorders with PRPF31: view

No data available for Genatlas for PRPF31 Gene

Publications for PRPF31 Gene

  1. A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). (PMID: 11545739) Vithana E.N. … Bhattacharya S.S. (Mol. Cell 2001) 2 3 4 22 64
  2. Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India. (PMID: 18552984) Gandra M. … Govindasamy K. (Mol. Vis. 2008) 3 22 46 64
  3. Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa. (PMID: 17325180) Waseem N.H. … Bhattacharya S.S. (Invest. Ophthalmol. Vis. Sci. 2007) 3 22 46 64
  4. Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6.U5 tri-snRNP formation and pre-mRNA splicing. (PMID: 11867543) Makarova O.V. … Luehrmann R. (EMBO J. 2002) 3 4 22 64
  5. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PMID: 20801516) Booij J.C. … Florijn R.J. (Ophthalmology 2011) 3 46 64

Products for PRPF31 Gene

Sources for PRPF31 Gene

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