Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Pre-mRNA-processing-splicing factor 8

Gene

PRPF8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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. Functions as 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.1 Publication1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionRibonucleoprotein, RNA-binding
Biological processmRNA processing, mRNA splicing

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72165 mRNA Splicing - Minor Pathway

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Pre-mRNA-processing-splicing factor 8
Alternative name(s):
220 kDa U5 snRNP-specific protein
PRP8 homolog
Splicing factor Prp8
p220
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PRPF8
Synonyms:PRPC8
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000174231.16

Human Gene Nomenclature Database

More...
HGNCi
HGNC:17340 PRPF8

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607300 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6P2Q9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus, Spliceosome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Retinitis pigmentosa 13 (RP13)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:600059
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0226262301P → T in RP13; no effect on interaction with SNRNP200 and EFTUD2. 1 PublicationCorresponds to variant dbSNP:rs121434239EnsemblClinVar.1
Natural variantiVAR_0226272304F → L in RP13. 2 PublicationsCorresponds to variant dbSNP:rs121434240EnsemblClinVar.1
Natural variantiVAR_0226282309H → P in RP13; no effect on interaction with SNRNP200 and EFTUD2. 2 PublicationsCorresponds to variant dbSNP:rs121434236EnsemblClinVar.1
Natural variantiVAR_0226292309H → R in RP13; no effect on interaction with SNRNP200 and EFTUD2. 2 PublicationsCorresponds to variant dbSNP:rs121434236EnsemblClinVar.1
Natural variantiVAR_0226302310R → G in RP13; reduces interaction with SNRNP200 and EFTUD2. 4 Publications1
Natural variantiVAR_0226312310R → K in RP13; reduces interaction with SNRNP200 and EFTUD2. 3 PublicationsCorresponds to variant dbSNP:rs121434238EnsemblClinVar.1
Natural variantiVAR_0226322314F → L in RP13; reduces interaction with EFTUD2, but not with SNRNP200. 2 Publications1
Natural variantiVAR_0226332334Y → N in RP13. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi1788V → D: Strongly reduced interaction with RNA. 1 Publication1
Mutagenesisi1789T → P: Strongly reduced interaction with RNA. 1 Publication1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...
DisGeNETi
10594

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
PRPF8

MalaCards human disease database

More...
MalaCardsi
PRPF8
MIMi600059 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000174231

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
791 Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA33815

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PRPF8

Domain mapping of disease mutations (DMDM)

More...
DMDMi
67460824

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources1 Publication
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000970402 – 2335Pre-mRNA-processing-splicing factor 8Add BLAST2334

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1 Publication1
Modified residuei859PhosphoserineCombined sources1
Modified residuei1358PhosphoserineCombined sources1
Modified residuei1425N6,N6-dimethyllysineCombined sources1
Modified residuei1463N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q6P2Q9

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q6P2Q9

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q6P2Q9

PeptideAtlas

More...
PeptideAtlasi
Q6P2Q9

PRoteomics IDEntifications database

More...
PRIDEi
Q6P2Q9

ProteomicsDB human proteome resource

More...
ProteomicsDBi
66917

PTM databases

CarbonylDB database of protein carbonylation sites

More...
CarbonylDBi
Q6P2Q9

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6P2Q9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q6P2Q9

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q6P2Q9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000174231 Expressed in 231 organ(s), highest expression level in adenohypophysis

CleanEx database of gene expression profiles

More...
CleanExi
HS_PRPF8

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q6P2Q9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6P2Q9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB009941
CAB015457

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Part of the U5 snRNP complex. 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. Component of the U5.U4atac/U6atac snRNP complexes in U12-dependent spliceosomes. Found in a mRNA splicing-dependent exon junction complex (EJC) with SRRM1. Interacts with U5 snRNP proteins SNRP116 and SNRNP40. Interacts with EFTUD2 and SNRNP200. Interacts (via the MPN (JAB/Mov34) domain) with PRPF3 ('Lys-63'-linked polyubiquitinated); may stabilize the U4/U6-U5 tri-snRNP complex. Interacts (via RNase H homology domain) with AAR2 (PubMed:26527271).18 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
115842, 192 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q6P2Q9

Database of interacting proteins

More...
DIPi
DIP-29614N

Protein interaction database and analysis system

More...
IntActi
Q6P2Q9, 66 interactors

Molecular INTeraction database

More...
MINTi
Q6P2Q9

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000304350

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

12335
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q6P2Q9

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q6P2Q9

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q6P2Q9

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini2103 – 2234MPNPROSITE-ProRule annotationAdd BLAST132

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni812 – 1303Reverse transcriptase homology domainAdd BLAST492
Regioni1304 – 1577LinkerAdd BLAST274
Regioni1513 – 1526Important for branch point selectionBy similarityAdd BLAST14
Regioni1581 – 1752Restriction endonuclease homology domainAdd BLAST172
Regioni1669 – 2034Involved in interaction with pre-mRNA 5' splice siteAdd BLAST366
Regioni1767 – 2020RNase H homology domainAdd BLAST254
Regioni2301 – 2335Required for interaction with EFTUD2 and SNRNP2001 PublicationAdd BLAST35

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The MPN (JAB/Mov34) domain has structural similarity with deubiquitinating enzymes, but lacks the residues that would bind the catalytic metal ion.By similarity
Contains a region with structural similarity to reverse transcripase, presenting the classical thumb, fingers and palm architecture, but lacks enzyme activity, since the essential metal-binding residues are not conserved.By similarity
Contains a region with structural similarity to type-2 restriction endonucleases, but the residues that would bind catalytic metal ions in endonucleases are instead involved in hydrogen bonds that stabilize the protein structure.By similarity
Contains a region with structural similarity to RNase H, but lacks RNase H activity.By similarity

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1795 Eukaryota
COG5178 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000015210

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000184103

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG052796

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6P2Q9

KEGG Orthology (KO)

More...
KOi
K12856

Identification of Orthologs from Complete Genome Data

More...
OMAi
QTIWFVD

Database of Orthologous Groups

More...
OrthoDBi
EOG091G003B

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6P2Q9

TreeFam database of animal gene trees

More...
TreeFami
TF105613

Family and domain databases

Conserved Domains Database

More...
CDDi
cd13838 RNase_H_like_Prp8_IV, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000555 JAMM/MPN+_dom
IPR037518 MPN
IPR012591 PRO8NT
IPR012592 PROCN
IPR012984 PROCT
IPR027652 PRP8
IPR021983 PRP8_domainIV
IPR019581 Prp8_U5-snRNA-bd
IPR019580 Prp8_U6-snRNA-bd
IPR012337 RNaseH-like_sf
IPR019582 RRM_spliceosomal_PrP8

The PANTHER Classification System

More...
PANTHERi
PTHR11140 PTHR11140, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01398 JAB, 1 hit
PF08082 PRO8NT, 1 hit
PF08083 PROCN, 1 hit
PF08084 PROCT, 1 hit
PF12134 PRP8_domainIV, 1 hit
PF10598 RRM_4, 1 hit
PF10597 U5_2-snRNA_bdg, 1 hit
PF10596 U6-snRNA_bdg, 1 hit

ProDom; a protein domain database

More...
ProDomi
View protein in ProDom or Entries sharing at least one domain
PD149576 Pre-mRNA-splicing_factor-8, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00232 JAB_MPN, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53098 SSF53098, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50249 MPN, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q6P2Q9-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAGVFPYRGP GNPVPGPLAP LPDYMSEEKL QEKARKWQQL QAKRYAEKRK
60 70 80 90 100
FGFVDAQKED MPPEHVRKII RDHGDMTNRK FRHDKRVYLG ALKYMPHAVL
110 120 130 140 150
KLLENMPMPW EQIRDVPVLY HITGAISFVN EIPWVIEPVY ISQWGSMWIM
160 170 180 190 200
MRREKRDRRH FKRMRFPPFD DEEPPLDYAD NILDVEPLEA IQLELDPEED
210 220 230 240 250
APVLDWFYDH QPLRDSRKYV NGSTYQRWQF TLPMMSTLYR LANQLLTDLV
260 270 280 290 300
DDNYFYLFDL KAFFTSKALN MAIPGGPKFE PLVRDINLQD EDWNEFNDIN
310 320 330 340 350
KIIIRQPIRT EYKIAFPYLY NNLPHHVHLT WYHTPNVVFI KTEDPDLPAF
360 370 380 390 400
YFDPLINPIS HRHSVKSQEP LPDDDEEFEL PEFVEPFLKD TPLYTDNTAN
410 420 430 440 450
GIALLWAPRP FNLRSGRTRR ALDIPLVKNW YREHCPAGQP VKVRVSYQKL
460 470 480 490 500
LKYYVLNALK HRPPKAQKKR YLFRSFKATK FFQSTKLDWV EVGLQVCRQG
510 520 530 540 550
YNMLNLLIHR KNLNYLHLDY NFNLKPVKTL TTKERKKSRF GNAFHLCREV
560 570 580 590 600
LRLTKLVVDS HVQYRLGNVD AFQLADGLQY IFAHVGQLTG MYRYKYKLMR
610 620 630 640 650
QIRMCKDLKH LIYYRFNTGP VGKGPGCGFW AAGWRVWLFF MRGITPLLER
660 670 680 690 700
WLGNLLARQF EGRHSKGVAK TVTKQRVESH FDLELRAAVM HDILDMMPEG
710 720 730 740 750
IKQNKARTIL QHLSEAWRCW KANIPWKVPG LPTPIENMIL RYVKAKADWW
760 770 780 790 800
TNTAHYNRER IRRGATVDKT VCKKNLGRLT RLYLKAEQER QHNYLKDGPY
810 820 830 840 850
ITAEEAVAVY TTTVHWLESR RFSPIPFPPL SYKHDTKLLI LALERLKEAY
860 870 880 890 900
SVKSRLNQSQ REELGLIEQA YDNPHEALSR IKRHLLTQRA FKEVGIEFMD
910 920 930 940 950
LYSHLVPVYD VEPLEKITDA YLDQYLWYEA DKRRLFPPWI KPADTEPPPL
960 970 980 990 1000
LVYKWCQGIN NLQDVWETSE GECNVMLESR FEKMYEKIDL TLLNRLLRLI
1010 1020 1030 1040 1050
VDHNIADYMT AKNNVVINYK DMNHTNSYGI IRGLQFASFI VQYYGLVMDL
1060 1070 1080 1090 1100
LVLGLHRASE MAGPPQMPND FLSFQDIATE AAHPIRLFCR YIDRIHIFFR
1110 1120 1130 1140 1150
FTADEARDLI QRYLTEHPDP NNENIVGYNN KKCWPRDARM RLMKHDVNLG
1160 1170 1180 1190 1200
RAVFWDIKNR LPRSVTTVQW ENSFVSVYSK DNPNLLFNMC GFECRILPKC
1210 1220 1230 1240 1250
RTSYEEFTHK DGVWNLQNEV TKERTAQCFL RVDDESMQRF HNRVRQILMA
1260 1270 1280 1290 1300
SGSTTFTKIV NKWNTALIGL MTYFREAVVN TQELLDLLVK CENKIQTRIK
1310 1320 1330 1340 1350
IGLNSKMPSR FPPVVFYTPK ELGGLGMLSM GHVLIPQSDL RWSKQTDVGI
1360 1370 1380 1390 1400
THFRSGMSHE EDQLIPNLYR YIQPWESEFI DSQRVWAEYA LKRQEAIAQN
1410 1420 1430 1440 1450
RRLTLEDLED SWDRGIPRIN TLFQKDRHTL AYDKGWRVRT DFKQYQVLKQ
1460 1470 1480 1490 1500
NPFWWTHQRH DGKLWNLNNY RTDMIQALGG VEGILEHTLF KGTYFPTWEG
1510 1520 1530 1540 1550
LFWEKASGFE ESMKWKKLTN AQRSGLNQIP NRRFTLWWSP TINRANVYVG
1560 1570 1580 1590 1600
FQVQLDLTGI FMHGKIPTLK ISLIQIFRAH LWQKIHESIV MDLCQVFDQE
1610 1620 1630 1640 1650
LDALEIETVQ KETIHPRKSY KMNSSCADIL LFASYKWNVS RPSLLADSKD
1660 1670 1680 1690 1700
VMDSTTTQKY WIDIQLRWGD YDSHDIERYA RAKFLDYTTD NMSIYPSPTG
1710 1720 1730 1740 1750
VLIAIDLAYN LHSAYGNWFP GSKPLIQQAM AKIMKANPAL YVLRERIRKG
1760 1770 1780 1790 1800
LQLYSSEPTE PYLSSQNYGE LFSNQIIWFV DDTNVYRVTI HKTFEGNLTT
1810 1820 1830 1840 1850
KPINGAIFIF NPRTGQLFLK IIHTSVWAGQ KRLGQLAKWK TAEEVAALIR
1860 1870 1880 1890 1900
SLPVEEQPKQ IIVTRKGMLD PLEVHLLDFP NIVIKGSELQ LPFQACLKVE
1910 1920 1930 1940 1950
KFGDLILKAT EPQMVLFNLY DDWLKTISSY TAFSRLILIL RALHVNNDRA
1960 1970 1980 1990 2000
KVILKPDKTT ITEPHHIWPT LTDEEWIKVE VQLKDLILAD YGKKNNVNVA
2010 2020 2030 2040 2050
SLTQSEIRDI ILGMEISAPS QQRQQIAEIE KQTKEQSQLT ATQTRTVNKH
2060 2070 2080 2090 2100
GDEIITSTTS NYETQTFSSK TEWRVRAISA ANLHLRTNHI YVSSDDIKET
2110 2120 2130 2140 2150
GYTYILPKNV LKKFICISDL RAQIAGYLYG VSPPDNPQVK EIRCIVMVPQ
2160 2170 2180 2190 2200
WGTHQTVHLP GQLPQHEYLK EMEPLGWIHT QPNESPQLSP QDVTTHAKIM
2210 2220 2230 2240 2250
ADNPSWDGEK TIIITCSFTP GSCTLTAYKL TPSGYEWGRQ NTDKGNNPKG
2260 2270 2280 2290 2300
YLPSHYERVQ MLLSDRFLGF FMVPAQSSWN YNFMGVRHDP NMKYELQLAN
2310 2320 2330
PKEFYHEVHR PSHFLNFALL QEGEVYSADR EDLYA
Length:2,335
Mass (Da):273,600
Last modified:June 7, 2005 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iE823A15C60EA61C9
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
I3L3Z8I3L3Z8_HUMAN
Pre-mRNA-processing-splicing factor...
PRPF8
250Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L0J9I3L0J9_HUMAN
Pre-mRNA-processing-splicing factor...
PRPF8
1,012Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L1T8I3L1T8_HUMAN
Pre-mRNA-processing-splicing factor...
PRPF8
116Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti184D → N in BAA22563 (Ref. 2) Curated1
Sequence conflicti492 – 493VG → GW in BAA22563 (Ref. 2) Curated2
Sequence conflicti604M → V in BAA22563 (Ref. 2) Curated1
Sequence conflicti806A → T in BAA22563 (Ref. 2) Curated1
Sequence conflicti997L → V in BAA22563 (Ref. 2) Curated1
Sequence conflicti1390A → S in BAA22563 (Ref. 2) Curated1
Sequence conflicti1867G → D in BAA22563 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02262268K → E. Corresponds to variant dbSNP:rs1043391Ensembl.1
Natural variantiVAR_022623227R → H1 PublicationCorresponds to variant dbSNP:rs11559304Ensembl.1
Natural variantiVAR_022624874P → L1 PublicationCorresponds to variant dbSNP:rs1043396Ensembl.1
Natural variantiVAR_0226251293N → H1 PublicationCorresponds to variant dbSNP:rs1043399Ensembl.1
Natural variantiVAR_0226262301P → T in RP13; no effect on interaction with SNRNP200 and EFTUD2. 1 PublicationCorresponds to variant dbSNP:rs121434239EnsemblClinVar.1
Natural variantiVAR_0226272304F → L in RP13. 2 PublicationsCorresponds to variant dbSNP:rs121434240EnsemblClinVar.1
Natural variantiVAR_0226282309H → P in RP13; no effect on interaction with SNRNP200 and EFTUD2. 2 PublicationsCorresponds to variant dbSNP:rs121434236EnsemblClinVar.1
Natural variantiVAR_0226292309H → R in RP13; no effect on interaction with SNRNP200 and EFTUD2. 2 PublicationsCorresponds to variant dbSNP:rs121434236EnsemblClinVar.1
Natural variantiVAR_0226302310R → G in RP13; reduces interaction with SNRNP200 and EFTUD2. 4 Publications1
Natural variantiVAR_0226312310R → K in RP13; reduces interaction with SNRNP200 and EFTUD2. 3 PublicationsCorresponds to variant dbSNP:rs121434238EnsemblClinVar.1
Natural variantiVAR_0226322314F → L in RP13; reduces interaction with EFTUD2, but not with SNRNP200. 2 Publications1
Natural variantiVAR_0226332334Y → N in RP13. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF092565 mRNA Translation: AAC61776.1
AB007510 mRNA Translation: BAA22563.1
BC064370 mRNA Translation: AAH64370.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS11010.1

NCBI Reference Sequences

More...
RefSeqi
NP_006436.3, NM_006445.3

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.181368

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000304992; ENSP00000304350; ENSG00000174231
ENST00000572621; ENSP00000460348; ENSG00000174231
ENST00000614672; ENSP00000479194; ENSG00000274442
ENST00000634039; ENSP00000488611; ENSG00000274442

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
10594

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:10594

UCSC genome browser

More...
UCSCi
uc002fte.3 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF092565 mRNA Translation: AAC61776.1
AB007510 mRNA Translation: BAA22563.1
BC064370 mRNA Translation: AAH64370.1
CCDSiCCDS11010.1
RefSeqiNP_006436.3, NM_006445.3
UniGeneiHs.181368

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3E9LX-ray1.95A1760-2016[»]
3ENBX-ray1.85A/B1769-1990[»]
3JCRelectron microscopy7.00A1-2335[»]
3LRUX-ray1.85A/B1831-1990[»]
4JK7X-ray1.40A/B1769-1990[»]
4JK8X-ray1.15A/B1769-1990[»]
4JK9X-ray1.50A/B1769-1990[»]
4JKAX-ray1.32A/B1769-1990[»]
4JKBX-ray1.30A/B1769-1990[»]
4JKCX-ray1.50A/B1769-1990[»]
4JKDX-ray1.55A/B1769-1990[»]
4JKEX-ray1.65A/B1769-1990[»]
4JKFX-ray1.95A/B1769-1990[»]
4JKGX-ray1.80A/B1769-1990[»]
4JKHX-ray1.80A/B1769-1990[»]
4KITX-ray3.60C2064-2335[»]
5MQFelectron microscopy5.90A1-2335[»]
5O9Zelectron microscopy4.50A1-2335[»]
5XJCelectron microscopy3.60A1-2335[»]
5YZGelectron microscopy4.10A1-2335[»]
5Z56electron microscopy5.10A1-2335[»]
5Z57electron microscopy6.50A1-2335[»]
5Z58electron microscopy4.90A1-2335[»]
6FF4electron microscopy16.00A1-2335[»]
ProteinModelPortaliQ6P2Q9
SMRiQ6P2Q9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115842, 192 interactors
CORUMiQ6P2Q9
DIPiDIP-29614N
IntActiQ6P2Q9, 66 interactors
MINTiQ6P2Q9
STRINGi9606.ENSP00000304350

PTM databases

CarbonylDBiQ6P2Q9
iPTMnetiQ6P2Q9
PhosphoSitePlusiQ6P2Q9
SwissPalmiQ6P2Q9

Polymorphism and mutation databases

BioMutaiPRPF8
DMDMi67460824

Proteomic databases

EPDiQ6P2Q9
MaxQBiQ6P2Q9
PaxDbiQ6P2Q9
PeptideAtlasiQ6P2Q9
PRIDEiQ6P2Q9
ProteomicsDBi66917

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
10594
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000304992; ENSP00000304350; ENSG00000174231
ENST00000572621; ENSP00000460348; ENSG00000174231
ENST00000614672; ENSP00000479194; ENSG00000274442
ENST00000634039; ENSP00000488611; ENSG00000274442
GeneIDi10594
KEGGihsa:10594
UCSCiuc002fte.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
10594
DisGeNETi10594
EuPathDBiHostDB:ENSG00000174231.16

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PRPF8
GeneReviewsiPRPF8
HGNCiHGNC:17340 PRPF8
HPAiCAB009941
CAB015457
MalaCardsiPRPF8
MIMi600059 phenotype
607300 gene
neXtProtiNX_Q6P2Q9
OpenTargetsiENSG00000174231
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA33815

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1795 Eukaryota
COG5178 LUCA
GeneTreeiENSGT00390000015210
HOGENOMiHOG000184103
HOVERGENiHBG052796
InParanoidiQ6P2Q9
KOiK12856
OMAiQTIWFVD
OrthoDBiEOG091G003B
PhylomeDBiQ6P2Q9
TreeFamiTF105613

Enzyme and pathway databases

ReactomeiR-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72165 mRNA Splicing - Minor Pathway

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
PRPF8 human
EvolutionaryTraceiQ6P2Q9

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
PRPF8

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
10594

Protein Ontology

More...
PROi
PR:Q6P2Q9

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000174231 Expressed in 231 organ(s), highest expression level in adenohypophysis
CleanExiHS_PRPF8
ExpressionAtlasiQ6P2Q9 baseline and differential
GenevisibleiQ6P2Q9 HS

Family and domain databases

CDDicd13838 RNase_H_like_Prp8_IV, 1 hit
InterProiView protein in InterPro
IPR000555 JAMM/MPN+_dom
IPR037518 MPN
IPR012591 PRO8NT
IPR012592 PROCN
IPR012984 PROCT
IPR027652 PRP8
IPR021983 PRP8_domainIV
IPR019581 Prp8_U5-snRNA-bd
IPR019580 Prp8_U6-snRNA-bd
IPR012337 RNaseH-like_sf
IPR019582 RRM_spliceosomal_PrP8
PANTHERiPTHR11140 PTHR11140, 1 hit
PfamiView protein in Pfam
PF01398 JAB, 1 hit
PF08082 PRO8NT, 1 hit
PF08083 PROCN, 1 hit
PF08084 PROCT, 1 hit
PF12134 PRP8_domainIV, 1 hit
PF10598 RRM_4, 1 hit
PF10597 U5_2-snRNA_bdg, 1 hit
PF10596 U6-snRNA_bdg, 1 hit
ProDomiView protein in ProDom or Entries sharing at least one domain
PD149576 Pre-mRNA-splicing_factor-8, 1 hit
SMARTiView protein in SMART
SM00232 JAB_MPN, 1 hit
SUPFAMiSSF53098 SSF53098, 2 hits
PROSITEiView protein in PROSITE
PS50249 MPN, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPRP8_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q6P2Q9
Secondary accession number(s): O14547, O75965
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 7, 2005
Last sequence update: June 7, 2005
Last modified: December 5, 2018
This is version 166 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again