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Aliases for PRPF31 Gene

Aliases for PRPF31 Gene

  • Pre-MRNA Processing Factor 31 2 3
  • PRP31 3 4 6
  • Serologically Defined Breast Cancer Antigen NY-BR-99 3 4
  • Pre-MRNA-Processing Factor 31 3 4
  • U4/U6 SnRNP 61 KDa Protein 3 4
  • Protein 61K 3 4
  • HPrp31 3 4
  • RP11 3 6
  • 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
  • NY-BR-99 3
  • SNRNP61 3

External Ids for PRPF31 Gene

Previous Symbols for PRPF31 Gene

  • RP11

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 Spliceosome. GO annotations related to this gene include 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

Genomic Location for PRPF31 Gene

Start:
54,115,374 bp from pter
End:
54,131,719 bp from pter
Size:
16,346 bases
Orientation:
Plus strand

Genomic View for PRPF31 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PRPF31 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRPF31 Gene

Regulatory Elements 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, NHP2L1, EFTUD2, SART1 and USP39. Interacts with a complex formed by NHP2L1 and U4 snRNA, but not with NHP2L1 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

Proteomics data for PRPF31 Gene at MOPED

Post-translational modifications for PRPF31 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys417, Lys430, and Lys478

Other Protein References for PRPF31 Gene

No data available for DME Specific Peptides for PRPF31 Gene

Domains for PRPF31 Gene

Protein Domains for PRPF31 Gene

UniProtKB/Swiss-Prot:

PRP31_HUMAN
Domain:
  • Interacts with the snRNP via the Nop domain:
    • Q8WWY3
  • The coiled coil domain is formed by two non-contiguous helices:
    • Q8WWY3
  • Contains 1 Nop domain.:
    • Q8WWY3
Family:
  • Belongs to the PRP31 family.:
    • Q8WWY3
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:0005515 protein binding IPI 21385873
GO:0043021 ribonucleoprotein complex binding IDA 11867543
GO:0044822 poly(A) RNA binding IDA 22658674
GO:0070990 snRNP binding IPI 17412961
genes like me logo Genes that share ontologies with PRPF31: view
genes like me logo Genes that share phenotypes with PRPF31: view

Animal Models for PRPF31 Gene

MGI Knock Outs for PRPF31:

miRNA for PRPF31 Gene

miRTarBase miRNAs that target PRPF31

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 5
cytosol 2

Gene Ontology (GO) - Cellular Components for PRPF31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005684 U2-type spliceosomal complex IC 17412961
GO:0005687 U4 snRNP IDA 17412961
GO:0005690 U4atac snRNP TAS 17412961
GO:0015030 Cajal body IDA 11867543
genes like me logo Genes that share ontologies with PRPF31: view

Pathways for PRPF31 Gene

SuperPathways for PRPF31 Gene

Superpath Contained pathways
1 Spliceosome
genes like me logo Genes that share pathways with PRPF31: view

Pathways by source for PRPF31 Gene

1 KEGG pathway 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 IDA 11867543
genes like me logo Genes that share ontologies with PRPF31: view

Transcripts for PRPF31 Gene

Unigene Clusters for PRPF31 Gene

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

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PRPF31 Gene

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 expressions with PRPF31: view

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 36
  • 99.27 (n)
  • 100 (a)
PRPF31 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PRPF31 36
  • 92.92 (n)
  • 99.4 (a)
PRPF31 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRPF31 36
  • 91.38 (n)
  • 99.6 (a)
PRPF31 37
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prpf31 36
  • 89.58 (n)
  • 99 (a)
Prpf31 16
Prpf31 37
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PRPF31 37
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRPF31 37
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prpf31 36
  • 88.98 (n)
  • 99.4 (a)
lizard
(Anolis carolinensis)
Reptilia PRPF31 37
  • 95 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.5894 36
tropical clawed frog
(Silurana tropicalis)
Amphibia prpf31 36
  • 75.16 (n)
  • 92.29 (a)
Str.2964 36
zebrafish
(Danio rerio)
Actinopterygii prpf31 36
  • 75.67 (n)
  • 85.53 (a)
prpf31 37
  • 82 (a)
OneToOne
zgc66177 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012142 36
  • 53.9 (n)
  • 48.27 (a)
fruit fly
(Drosophila melanogaster)
Insecta Prp31 36
  • 65.03 (n)
  • 63.39 (a)
Prp31 37
  • 60 (a)
OneToOne
CG6876 38
  • 63 (a)
worm
(Caenorhabditis elegans)
Secernentea prp-31 36
  • 50.33 (n)
  • 47.48 (a)
prp-31 37
  • 45 (a)
OneToOne
Y110A7A.8 38
  • 47 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP31 37
  • 24 (a)
OneToOne
PRP31 39
thale cress
(Arabidopsis thaliana)
eudicotyledons emb1220 36
  • 50.84 (n)
  • 47.95 (a)
rice
(Oryza sativa)
Liliopsida Os04g0555400 36
  • 51.45 (n)
  • 49.31 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02716 36
  • 50.04 (n)
  • 42.03 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes prp31 36
  • 45.86 (n)
  • 42.79 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2747 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9354 37
  • 59 (a)
OneToOne
Species with no ortholog for PRPF31:
  • 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

Selected 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 MAF
rs171703 -- 54,128,003(+) GGGGG(C/T)CCGCT intron-variant
rs254249 -- 54,130,291(+) CAGGC(C/T)GGGCG intron-variant
rs254250 -- 54,130,123(+) CAGGC(C/T)GGGCG intron-variant
rs254271 -- 54,127,382(+) atctc(A/C/G)gcctc intron-variant
rs608608 -- 54,128,977(+) GCTTC(C/G)GGCTG intron-variant

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

Variant ID Type Subtype PubMed ID
esv2718812 CNV Deletion 23290073
nsv833877 CNV Loss 17160897
nsv510773 CNV Loss 20534489
nsv470157 CNV Loss 18288195
dgv4001n71 CNV Loss 21882294
nsv515623 CNV Loss 19592680
nsv2543 CNV Insertion 18451855
dgv4002n71 CNV Loss 21882294
nsv2545 CNV Insertion 18451855
esv1131677 CNV Deletion 17803354

Relevant External Links for PRPF31 Gene

HapMap Linkage Disequilibrium report
PRPF31
Human Gene Mutation Database (HGMD)
PRPF31
Locus Specific Mutation Databases (LSDB)
PRPF31

Disorders for PRPF31 Gene

(1) OMIM Diseases for PRPF31 Gene (606419)

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.

(1) University of Copenhagen DISEASES for PRPF31 Gene

(1) Novoseek inferred disease relationships for PRPF31 Gene

Disease -log(P) Hits PubMed IDs
retinitis pigmentosa 90.6 24

Relevant External Links for PRPF31

Genetic Association Database (GAD)
PRPF31
Human Genome Epidemiology (HuGE) Navigator
PRPF31
genes like me logo Genes that share disorders with PRPF31: view

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 23
  2. 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 23 49
  3. 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 23
  4. 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 23 49
  5. Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype. (PMID: 8808602) Al-Maghtheh M. … Inglehearn C.F. (Am. J. Hum. Genet. 1996) 3 4

Products for PRPF31 Gene

Sources for PRPF31 Gene

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