Human Gene PRPF31 (ENST00000391755.1) Description and Page Index
  Description: Contains 1 Nop domain. (from UniProt E7EVX8)
RefSeq Summary (NM_015629): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB593025.1, SRR3476690.463790.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000321030.9/ ENSP00000324122.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##
Gencode Transcript: ENST00000391755.1
Gencode Gene: ENSG00000105618.14
Transcript (Including UTRs)
   Position: hg38 chr19:54,118,271-54,131,709 Size: 13,439 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg38 chr19:54,118,279-54,131,432 Size: 13,154 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:54,118,271-54,131,709)mRNA (may differ from genome)Protein (493 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGIPubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: E7EVX8_HUMAN
DESCRIPTION: SubName: Full=U4/U6 small nuclear ribonucleoprotein Prp31;
SIMILARITY: Contains 1 Nop domain.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  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

-  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
3' UTR -111.10277-0.401 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
PF08060 - n/a
PF09785 - Prp31 C terminal domain

ModBase Predicted Comparative 3D Structure on E7EVX8
FrontTopSide
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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0000244 spliceosomal tri-snRNP complex assembly
GO:0000398 mRNA splicing, via spliceosome

Cellular Component:
GO:0005634 nucleus
GO:0046540 U4/U6 x U5 tri-snRNP complex


-  Descriptions from all associated GenBank mRNAs
  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.
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.
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
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa03040 - Spliceosome

-  Other Names for This Gene
  Alternate Gene Symbols: AL050369, E7EVX8, E7EVX8_HUMAN, uc061cmz.1
UCSC ID: uc061cmz.1
RefSeq Accession: NM_015629
Protein: E7EVX8 CCDS: CCDS12879.1

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

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