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PRPF8
HPA
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  • PRPF8
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

PRPF8
Synonyms hPrp8, Prp8, PRPC8, RP13, SNRNP220
Gene descriptioni

Full gene name according to HGNC.

Pre-mRNA processing factor 8
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Cancer-related genes
Disease related genes
Human disease related genes
Plasma proteins
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 17
Cytoband p13.3
Chromosome location (bp) 1650629 - 1684867
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

8
Ensembl ENSG00000174231 (version 109)
Entrez gene 10594
HGNC HGNC:17340
UniProt Q6P2Q9 (UniProt - Evidence at protein level)
neXtProt NX_Q6P2Q9
GeneCards PRPF8
Antibodypedia PRPF8 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Plays a role in pre-mRNA splicing as core component of precatalytic, catalytic and postcatalytic spliceosomal complexes, both of the predominant U2-type spliceosome and the minor U12-type spliceosome 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11. 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, a building block of the spliceosome. Functions as a 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.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Ribonucleoprotein, RNA-binding
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

mRNA processing, mRNA splicing
Gene summary (Entrez)i

Useful information about the gene from Entrez

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]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
PRPF8-201
ENSP00000304350
ENST00000304992
Q6P2Q9
[Direct mapping] Pre-mRNA-processing-splicing factor 8
Show all
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
Human disease related genes
   Nervous system diseases
   Eye disease
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000244 [spliceosomal tri-snRNP complex assembly]
GO:0000375 [RNA splicing, via transesterification reactions]
GO:0000398 [mRNA splicing, via spliceosome]
GO:0003723 [RNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005681 [spliceosomal complex]
GO:0005682 [U5 snRNP]
GO:0006397 [mRNA processing]
GO:0008233 [peptidase activity]
GO:0008237 [metallopeptidase activity]
GO:0008380 [RNA splicing]
GO:0016020 [membrane]
GO:0016607 [nuclear speck]
GO:0017070 [U6 snRNA binding]
GO:0030532 [small nuclear ribonucleoprotein complex]
GO:0030619 [U1 snRNA binding]
GO:0030620 [U2 snRNA binding]
GO:0030623 [U5 snRNA binding]
GO:0046540 [U4/U6 x U5 tri-snRNP complex]
GO:0070530 [K63-linked polyubiquitin modification-dependent protein binding]
GO:0071005 [U2-type precatalytic spliceosome]
GO:0071006 [U2-type catalytic step 1 spliceosome]
GO:0071007 [U2-type catalytic step 2 spliceosome]
GO:0071013 [catalytic step 2 spliceosome]
GO:0071222 [cellular response to lipopolysaccharide]
GO:0071356 [cellular response to tumor necrosis factor]
GO:0097157 [pre-mRNA intronic binding]
GO:1990904 [ribonucleoprotein complex]
Show all
2335 aa
273.6 kDa
No 0
PRPF8-203
ENSP00000459095
ENST00000571958
I3L1T8
[Direct mapping] Pre-mRNA-processing-splicing factor 8
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Nervous system diseases
   Eye disease
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000398 [mRNA splicing, via spliceosome]
GO:0005681 [spliceosomal complex]
Show all
116 aa
12.4 kDa
No 0
PRPF8-205
ENSP00000460348
ENST00000572621
Q6P2Q9
[Direct mapping] Pre-mRNA-processing-splicing factor 8
Show all
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
Human disease related genes
   Nervous system diseases
   Eye disease
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000244 [spliceosomal tri-snRNP complex assembly]
GO:0000375 [RNA splicing, via transesterification reactions]
GO:0000398 [mRNA splicing, via spliceosome]
GO:0003723 [RNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005681 [spliceosomal complex]
GO:0005682 [U5 snRNP]
GO:0006397 [mRNA processing]
GO:0008233 [peptidase activity]
GO:0008237 [metallopeptidase activity]
GO:0008380 [RNA splicing]
GO:0016020 [membrane]
GO:0016607 [nuclear speck]
GO:0017070 [U6 snRNA binding]
GO:0030619 [U1 snRNA binding]
GO:0030620 [U2 snRNA binding]
GO:0030623 [U5 snRNA binding]
GO:0046540 [U4/U6 x U5 tri-snRNP complex]
GO:0070530 [K63-linked polyubiquitin modification-dependent protein binding]
GO:0071005 [U2-type precatalytic spliceosome]
GO:0071006 [U2-type catalytic step 1 spliceosome]
GO:0071007 [U2-type catalytic step 2 spliceosome]
GO:0071013 [catalytic step 2 spliceosome]
GO:0097157 [pre-mRNA intronic binding]
GO:1990904 [ribonucleoprotein complex]
Show all
2335 aa
273.6 kDa
No 0
PRPF8-209
ENSP00000460849
ENST00000573725
I3L3Z8
[Direct mapping] Pre-mRNA-processing-splicing factor 8
Show all
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Nervous system diseases
   Eye disease
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000398 [mRNA splicing, via spliceosome]
GO:0003723 [RNA binding]
GO:0005515 [protein binding]
GO:0005681 [spliceosomal complex]
GO:0008233 [peptidase activity]
GO:0008237 [metallopeptidase activity]
GO:0017070 [U6 snRNA binding]
GO:0030623 [U5 snRNA binding]
Show all
2275 aa
266.4 kDa
No 0
PRPF8-216
ENSP00000458151
ENST00000577001
I3L0J9
[Direct mapping] Pre-mRNA-processing-splicing factor 8
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Nervous system diseases
   Eye disease
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000398 [mRNA splicing, via spliceosome]
GO:0003723 [RNA binding]
GO:0005681 [spliceosomal complex]
Show all
1012 aa
119.7 kDa
No 0
PRPF8-217
ENSP00000515360
ENST00000703537
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Nervous system diseases
   Eye disease
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000398 [mRNA splicing, via spliceosome]
GO:0005515 [protein binding]
GO:0005681 [spliceosomal complex]
GO:0008233 [peptidase activity]
GO:0008237 [metallopeptidase activity]
GO:0017070 [U6 snRNA binding]
Show all
918 aa
106.2 kDa
No 0
PRPF8-220
ENSP00000515362
ENST00000703540
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Nervous system diseases
   Eye disease
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000398 [mRNA splicing, via spliceosome]
GO:0003723 [RNA binding]
GO:0005515 [protein binding]
GO:0005681 [spliceosomal complex]
GO:0008233 [peptidase activity]
GO:0008237 [metallopeptidase activity]
GO:0017070 [U6 snRNA binding]
GO:0030623 [U5 snRNA binding]
Show all
2286 aa
267.7 kDa
No 0
PRPF8-221
ENSP00000515363
ENST00000703541
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Nervous system diseases
   Eye disease
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000398 [mRNA splicing, via spliceosome]
GO:0003723 [RNA binding]
GO:0005515 [protein binding]
GO:0005681 [spliceosomal complex]
GO:0008233 [peptidase activity]
GO:0008237 [metallopeptidase activity]
GO:0017070 [U6 snRNA binding]
GO:0030623 [U5 snRNA binding]
Show all
2290 aa
268.1 kDa
No 0

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