Human Gene PRPF31 (ENST00000321030.9_4) from GENCODE V47lift37
  Description: pre-mRNA processing factor 31 (from RefSeq NM_015629.4)
Gencode Transcript: ENST00000321030.9_4
Gencode Gene: ENSG00000105618.14_14
Transcript (Including UTRs)
   Position: hg19 chr19:54,619,134-54,635,144 Size: 16,011 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr19:54,621,659-54,634,863 Size: 13,205 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:54,619,134-54,635,144)mRNA (may differ from genome)Protein (499 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PRP31_HUMAN
DESCRIPTION: RecName: Full=U4/U6 small nuclear ribonucleoprotein Prp31; AltName: Full=Pre-mRNA-processing factor 31; AltName: Full=Serologically defined breast cancer antigen NY-BR-99; AltName: Full=U4/U6 snRNP 61 kDa protein; Short=Protein 61K; Short=hPrp31;
FUNCTION: Involved in pre-mRNA splicing. Required for U4/U6.U5 tri-snRNP formation.
SUBUNIT: Part of a tri-snRNP complex. 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 MLL, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components C17orf49, 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.
SUBCELLULAR LOCATION: Nucleus speckle. Nucleus, Cajal body. Note=Predominantly found in speckles and in Cajal bodies.
TISSUE SPECIFICITY: Ubiquitously expressed.
DOMAIN: Interacts with the snRNP via the Nop domain.
DOMAIN: The coiled coil domain is formed by two non-contiguous helices.
DISEASE: Defects in PRPF31 are the cause of retinitis pigmentosa type 11 (RP11) [MIM:600138]. RP leads to degeneration of retinal photoreceptor cells. 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. RP11 inheritance is autosomal dominant.
SIMILARITY: Belongs to the PRP31 family.
SIMILARITY: Contains 1 Nop domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PRPF31
Diseases sorted by gene-association score: retinitis pigmentosa 11* (1247), prpf31-related retinitis pigmentosa* (100), retinitis pigmentosa* (68), retinitis (13), retinitis pigmentosa 18 (10), retinitis pigmentosa 13 (8), retinal disease (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 41.16 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 1342.58 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -11.4052-0.219 Picture PostScript Text
3' UTR -113.30281-0.403 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012976 - NOSIC
IPR019175 - Prp31_C
IPR002687 - SnoRNA-bd_dom

Pfam Domains:
PF01798 - snoRNA binding domain, fibrillarin
PF09785 - Prp31 C terminal domain

SCOP Domains:
89124 - Nop domain
158622 - YheA/YmcA-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2OZB - X-ray 3SIU - X-ray MuPIT 3SIV - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q8WWY3
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0030621 U4 snRNA binding
GO:0030622 U4atac snRNA binding
GO:0043021 ribonucleoprotein complex binding
GO:0070990 snRNP binding

Biological Process:
GO:0000244 spliceosomal tri-snRNP complex assembly
GO:0000398 mRNA splicing, via spliceosome
GO:0006397 mRNA processing
GO:0008380 RNA splicing
GO:0071166 ribonucleoprotein complex localization
GO:0048254 snoRNA localization

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0005684 U2-type spliceosomal complex
GO:0005687 U4 snRNP
GO:0005690 U4atac snRNP
GO:0015030 Cajal body
GO:0016607 nuclear speck
GO:0046540 U4/U6 x U5 tri-snRNP complex
GO:0071005 U2-type precatalytic spliceosome
GO:0071011 precatalytic spliceosome
GO:0071339 MLL1 complex


-  Descriptions from all associated GenBank mRNAs
  KJ893522 - Synthetic construct Homo sapiens clone ccsbBroadEn_02916 PRPF31 gene, encodes complete protein.
KR711620 - Synthetic construct Homo sapiens clone CCSBHm_00027858 PRPF31 (PRPF31) mRNA, encodes complete protein.
KR711621 - Synthetic construct Homo sapiens clone CCSBHm_00027862 PRPF31 (PRPF31) mRNA, encodes complete protein.
AY040822 - Homo sapiens U4/U6 snRNP-associated 61 kDa protein mRNA, complete cds.
BC117389 - Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae), mRNA (cDNA clone MGC:150998 IMAGE:40125940), complete cds.
AK301709 - Homo sapiens cDNA FLJ59251 complete cds, highly similar to U4/U6 small nuclear ribonucleoprotein Prp31.
AB593025 - Homo sapiens PRPF31 mRNA for U4/U6 small nuclear ribonucleoprotein Prp31, complete cds, clone: HP04496-ARe67A12.
AK098547 - Homo sapiens cDNA FLJ25681 fis, clone TST04131.
AL050369 - Homo sapiens mRNA; cDNA DKFZp566J153 (from clone DKFZp566J153).
AB593024 - Homo sapiens PRPF31 mRNA for U4/U6 small nuclear ribonucleoprotein Prp31, complete cds, clone: HP04496-ARa33B12.
JD205080 - Sequence 186104 from Patent EP1572962.
AB463201 - Synthetic construct DNA, clone: pF1KB8665, Homo sapiens PRPF31 gene for PRP31 pre-mRNA processing factor 31 homolog, without stop codon, in Flexi system.
AM392866 - Synthetic construct Homo sapiens clone IMAGE:100001709 for hypothetical protein (PRPF31 gene).
HQ258269 - Synthetic construct Homo sapiens clone IMAGE:100072578 PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31) gene, encodes complete protein.
AF308303 - Homo sapiens serologically defined breast cancer antigen NY-BR-99 mRNA, complete cds.
LP986363 - Sequence 1 from Patent EP3201339.
MA014023 - JP 2017536338-A/1: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT.
LP986365 - Sequence 3 from Patent EP3201339.
MA014025 - JP 2017536338-A/3: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT.
LP986366 - Sequence 4 from Patent EP3201339.
MA014026 - JP 2017536338-A/4: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT.
LP986368 - Sequence 6 from Patent EP3201339.
MA014028 - JP 2017536338-A/6: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT.
AK091105 - Homo sapiens cDNA FLJ33786 fis, clone BRSSN2008419.
JD493190 - Sequence 474214 from Patent EP1572962.
JD122913 - Sequence 103937 from Patent EP1572962.
JD277051 - Sequence 258075 from Patent EP1572962.
JD174513 - Sequence 155537 from Patent EP1572962.
JD471468 - Sequence 452492 from Patent EP1572962.
JD217883 - Sequence 198907 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8WWY3 (Reactome details) participates in the following event(s):

R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex
R-HSA-72127 Formation of the Spliceosomal B Complex
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72172 mRNA Splicing
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: E7ESA8, ENST00000321030.1, ENST00000321030.2, ENST00000321030.3, ENST00000321030.4, ENST00000321030.5, ENST00000321030.6, ENST00000321030.7, ENST00000321030.8, F1T0A4, F1T0A5, NM_015629, PRP31, PRP31_HUMAN, Q17RB4, Q8N7F9, Q8WWY3, Q9H271, Q9Y439, uc317qzk.1, uc317qzk.2
UCSC ID: ENST00000321030.9_4
RefSeq Accession: NM_015629.4
Protein: Q8WWY3 (aka PRP31_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene PRPF31:
rp-overview (Nonsyndromic Retinitis Pigmentosa Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.