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Entry version 156 (13 Feb 2019)
Sequence version 2 (21 Mar 2006)
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Protein

U4/U6 small nuclear ribonucleoprotein Prp31

Gene

PRPF31

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

Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11867543, PubMed:28781166). Required for the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome (PubMed:11867543).2 Publications

<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

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Reactomei
R-HSA-72163 mRNA Splicing - Major 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:
U4/U6 small nuclear ribonucleoprotein Prp31
Alternative name(s):
Pre-mRNA-processing factor 31
Serologically defined breast cancer antigen NY-BR-99
U4/U6 snRNP 61 kDa protein
Short name:
Protein 61K
Short name:
hPrp31
<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:PRPF31
Synonyms:PRP31
<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 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000105618.13

Human Gene Nomenclature Database

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HGNCi
HGNC:15446 PRPF31

Online Mendelian Inheritance in Man (OMIM)

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MIMi
606419 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q8WWY3

<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 & Seán O’Donoghue; 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 11 (RP11)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:600138
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_025629111 – 114Missing in RP11; high penetrance. 1 Publication4
Natural variantiVAR_025630194A → E in RP11; mislocation of the protein in the cytoplasm and reduced interaction with PRPF6; the result may be a deficiency in splicing function in the retina. 3 PublicationsCorresponds to variant dbSNP:rs119475043EnsemblClinVar.1
Natural variantiVAR_025631216A → P in RP11; mislocation of the protein in the cytoplasm, but no effect on interaction with PRPF6; the result may be a deficiency in splicing function in the retina. 4 PublicationsCorresponds to variant dbSNP:rs119475042EnsemblClinVar.1

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>Mutagenesisi270H → A or K: Reduces binding to the complex formed by U4 snRNA and SNU13. 1 Publication1
Mutagenesisi351 – 364Missing : Abolishes nuclear localization. 1 PublicationAdd BLAST14

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNET

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DisGeNETi
26121

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

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GeneReviewsi
PRPF31

MalaCards human disease database

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MalaCardsi
PRPF31
MIMi600138 phenotype

Open Targets

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OpenTargetsi
ENSG00000105618

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

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Orphaneti
791 Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA33814

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
PRPF31

Domain mapping of disease mutations (DMDM)

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DMDMi
90101442

<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 ‘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_00002277991 – 499U4/U6 small nuclear ribonucleoprotein Prp31Add BLAST499

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 residuei379PhosphoserineCombined sources1
Modified residuei395PhosphoserineCombined sources1
Modified residuei432PhosphoserineCombined sources1
Modified residuei438N6-acetyllysineBy similarity1
Modified residuei439PhosphoserineCombined sources1
Modified residuei440PhosphothreonineCombined sources1
Modified residuei450PhosphoserineCombined sources1
Modified residuei455PhosphothreonineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki471Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki478Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8WWY3

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8WWY3

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8WWY3

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

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PaxDbi
Q8WWY3

PeptideAtlas

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PeptideAtlasi
Q8WWY3

PRoteomics IDEntifications database

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PRIDEi
Q8WWY3

ProteomicsDB human proteome resource

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ProteomicsDBi
74955
74956 [Q8WWY3-2]
74957 [Q8WWY3-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8WWY3

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

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PhosphoSitePlusi
Q8WWY3

<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

Ubiquitously expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000105618 Expressed in 235 organ(s), highest expression level in heart left ventricle

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8WWY3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8WWY3 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA041939
HPA061873

<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

Identified in the spliceosome B complex (PubMed:28781166). 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 (PubMed:11867543, PubMed:16723661, PubMed:26912367). Interacts with a complex formed by SNU13 and U4 snRNA, but not with SNU13 or U4 snRNA alone (PubMed:17412961, PubMed:21784869). The complex formed by SNU13 and PRPF31 binds also U4atac snRNA, a characteristic component of specific, less abundant spliceosomal complexes (PubMed:21784869). Interacts with PRPF6/U5 snRNP-associated 102 kDa protein (PubMed:11867543, PubMed:17412961, PubMed:26912367). 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 (PubMed:15960975). Interacts (via its NLS) with CTNNBL1 (PubMed:21385873).8 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei247Interaction with U4 snRNA1 Publication1
Sitei270Interaction with U4 snRNA and U4atac snRNA1 Publication1
Sitei289Interaction with U4atac snRNA1 Publication1
Sitei293Interaction with U4 snRNA and U4atac snRNA1 Publication1
Sitei298Interaction with U4 snRNA and U4atac snRNA1 Publication1

<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

WithEntry#Exp.IntActNotes
AESQ081173EBI-1567797,EBI-717810
AESQ08117-27EBI-1567797,EBI-11741437
C1QTNF1Q9BXJ13EBI-1567797,EBI-750200
C1QTNF1Q9BXJ1-25EBI-1567797,EBI-11536642
CALCOCO2Q131376EBI-1567797,EBI-739580
CCDC136Q96JN2-23EBI-1567797,EBI-10171416
CCDC57Q2TAC23EBI-1567797,EBI-2808286
CCDC57Q2TAC2-25EBI-1567797,EBI-10961624
CCNDBP1O952734EBI-1567797,EBI-748961
CDCA7LQ96GN53EBI-1567797,EBI-5278764
CDCA7LQ96GN5-23EBI-1567797,EBI-9091443
CEP70Q8NHQ18EBI-1567797,EBI-739624
EFEMP2O959675EBI-1567797,EBI-743414
FASTKQ142963EBI-1567797,EBI-1754067
GOLGA2Q0837910EBI-1567797,EBI-618309
HNRNPKP619786EBI-1567797,EBI-304185
HNRNPKP61978-27EBI-1567797,EBI-7060731
JAKMIP2Q96AA88EBI-1567797,EBI-752007
KCTD6Q8NC698EBI-1567797,EBI-2511344
KHDRBS2Q5VWX18EBI-1567797,EBI-742808
KHDRBS3O755256EBI-1567797,EBI-722504
KRT15P190128EBI-1567797,EBI-739566
KRT40Q6A1626EBI-1567797,EBI-10171697
KRTAP10-8P604108EBI-1567797,EBI-10171774
KRTAP10-9P604116EBI-1567797,EBI-10172052
LDOC1O957518EBI-1567797,EBI-740738
LURAP1Q96LR26EBI-1567797,EBI-741355
LZTS2Q9BRK43EBI-1567797,EBI-741037
MDFIQ997505EBI-1567797,EBI-724076
MID2Q9UJV3-28EBI-1567797,EBI-10172526
MIPOL1Q8TD106EBI-1567797,EBI-2548751
MKRN3Q1306410EBI-1567797,EBI-2340269
MTUS2Q5JR593EBI-1567797,EBI-742948
MTUS2Q5JR59-35EBI-1567797,EBI-11522433
NCAPH2Q6IBW43EBI-1567797,EBI-2548296
NOTCH2NLAQ7Z3S96EBI-1567797,EBI-945833
PAK5Q9P2865EBI-1567797,EBI-741896
PDE4DIPQ5VU436EBI-1567797,EBI-1105124
PHC2Q8IXK03EBI-1567797,EBI-713786
PHC2Q8IXK0-53EBI-1567797,EBI-11527347
PNMA1Q8ND9010EBI-1567797,EBI-302345
PNMA2Q9UL426EBI-1567797,EBI-302355
PRICKLE1Q96MT36EBI-1567797,EBI-2348662
PRPF6O949062EBI-1567797,EBI-536755
PSTPIP1O435868EBI-1567797,EBI-1050964
RBMXP381595EBI-1567797,EBI-743526
RBMY1A1P0DJD33EBI-1567797,EBI-8638511
RBMY1A1P0DJD3-25EBI-1567797,EBI-11994018
RBMY1JQ154158EBI-1567797,EBI-8642021
SIAH1Q8IUQ43EBI-1567797,EBI-747107
SIAH1Q8IUQ4-23EBI-1567797,EBI-11522811
SSX2IPQ9Y2D86EBI-1567797,EBI-2212028
STX11O755586EBI-1567797,EBI-714135
TADA2AA0A024R0Y43EBI-1567797,EBI-11523730
TADA2AO754783EBI-1567797,EBI-742268
TFIP11Q9UBB910EBI-1567797,EBI-1105213
TMCC2O75069-46EBI-1567797,EBI-10177480
TP53BP2Q13625-33EBI-1567797,EBI-10175039
TRIM27P143738EBI-1567797,EBI-719493
TRIM41Q8WV443EBI-1567797,EBI-725997
TSGA10Q9BZW76EBI-1567797,EBI-744794
ZFP64Q9NTW73EBI-1567797,EBI-745730
ZNF24P170283EBI-1567797,EBI-707773
ZNF250P15622-36EBI-1567797,EBI-10177272
ZNF408Q9H9D43EBI-1567797,EBI-347633
ZNF417Q8TAU33EBI-1567797,EBI-740727
ZNF473Q8WTR73EBI-1567797,EBI-751409
ZNF587Q96SQ56EBI-1567797,EBI-6427977

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
117563, 184 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q8WWY3

Protein interaction database and analysis system

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IntActi
Q8WWY3, 178 interactors

Molecular INTeraction database

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MINTi
Q8WWY3

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000324122

<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

1499
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2OZBX-ray2.60B/E78-333[»]
3JCRelectron microscopy7.00J1-499[»]
3SIUX-ray2.63B/E85-333[»]
3SIVX-ray3.30B/E/H/K85-333[»]
5O9Zelectron microscopy4.50H1-499[»]
6AH0electron microscopy5.70L1-499[»]
6AHDelectron microscopy3.80L1-499[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q8WWY3

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

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SMRi
Q8WWY3

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q8WWY3

<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>Domaini215 – 333NopPROSITE-ProRule annotationAdd BLAST119

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili85 – 1201 PublicationAdd BLAST36
Coiled coili181 – 2151 PublicationAdd BLAST35

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi351 – 364Nuclear localization signal (NLS)1 PublicationAdd BLAST14

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi16 – 19Poly-Glu4
Compositional biasi25 – 29Poly-Glu5

<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

Interacts with the snRNP via the Nop domain.2 Publications
The coiled coil domain is formed by two non-contiguous helices.2 Publications

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the PRP31 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2574 Eukaryota
COG1498 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00550000075069

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000207983

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG082193

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8WWY3

KEGG Orthology (KO)

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KOi
K12844

Identification of Orthologs from Complete Genome Data

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OMAi
FTRDKYS

Database of Orthologous Groups

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OrthoDBi
791296at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8WWY3

TreeFam database of animal gene trees

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TreeFami
TF300677

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.287.660, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR029012 Helix_hairpin_bin_sf
IPR002687 Nop_dom
IPR036070 Nop_dom_sf
IPR012976 NOSIC
IPR027105 Prp31
IPR019175 Prp31_C

The PANTHER Classification System

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PANTHERi
PTHR13904 PTHR13904, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF01798 Nop, 1 hit
PF09785 Prp31_C, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00931 NOSIC, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF89124 SSF89124, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51358 NOP, 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>Sequences (4+)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.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8WWY3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSLADELLAD LEEAAEEEEG GSYGEEEEEP AIEDVQEETQ LDLSGDSVKT
60 70 80 90 100
IAKLWDSKMF AEIMMKIEEY ISKQAKASEV MGPVEAAPEY RVIVDANNLT
110 120 130 140 150
VEIENELNII HKFIRDKYSK RFPELESLVP NALDYIRTVK ELGNSLDKCK
160 170 180 190 200
NNENLQQILT NATIMVVSVT ASTTQGQQLS EEELERLEEA CDMALELNAS
210 220 230 240 250
KHRIYEYVES RMSFIAPNLS IIIGASTAAK IMGVAGGLTN LSKMPACNIM
260 270 280 290 300
LLGAQRKTLS GFSSTSVLPH TGYIYHSDIV QSLPPDLRRK AARLVAAKCT
310 320 330 340 350
LAARVDSFHE STEGKVGYEL KDEIERKFDK WQEPPPVKQV KPLPAPLDGQ
360 370 380 390 400
RKKRGGRRYR KMKERLGLTE IRKQANRMSF GEIEEDAYQE DLGFSLGHLG
410 420 430 440 450
KSGSGRVRQT QVNEATKARI SKTLQRTLQK QSVVYGGKST IRDRSSGTAS
460 470 480 490
SVAFTPLQGL EIVNPQAAEK KVAEANQKYF SSMAEFLKVK GEKSGLMST
Length:499
Mass (Da):55,456
Last modified:March 21, 2006 - 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:i7B50EC4C3393795C
GO
Isoform 2 (identifier: Q8WWY3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     333-364: EPPPVKQVKPLPAPLDGQRKKRGGRRYRKMKE → RRRWLRPTRSISPAWLSSSRSRARRVALCPPE
     365-499: Missing.

Note: No experimental confirmation available.
Show »
Length:364
Mass (Da):40,779
Checksum:i799839F6D6489EEB
GO
Isoform 3 (identifier: Q8WWY3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-80: Missing.
     359-499: Missing.

Note: No experimental confirmation available.
Show »
Length:278
Mass (Da):30,966
Checksum:i9FCE9E591AF0B586
GO
Isoform 4 (identifier: Q8WWY3-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     426-499: RTLQKQSVVY...KGEKSGLMST → VWARPRWGWG...PSPHSRAWRL

Note: No experimental confirmation available.
Show »
Length:491
Mass (Da):54,909
Checksum:i78141E2A6DB6B1FB
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7EVX8E7EVX8_HUMAN
U4/U6 small nuclear ribonucleoprote...
PRPF31
493Annotation 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>
E7ESX0E7ESX0_HUMAN
U4/U6 small nuclear ribonucleoprote...
PRPF31
276Annotation 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>
E7EN72E7EN72_HUMAN
U4/U6 small nuclear ribonucleoprote...
PRPF31
284Annotation 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>
E7EU94E7EU94_HUMAN
U4/U6 small nuclear ribonucleoprote...
PRPF31
260Annotation 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 conflicti188E → D in AAK77986 (PubMed:11867543).Curated1
Sequence conflicti235A → G in AAG48270 (PubMed:12747765).Curated1
Sequence conflicti244M → V in CAB43677 (PubMed:11230166).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_025629111 – 114Missing in RP11; high penetrance. 1 Publication4
Natural variantiVAR_025630194A → E in RP11; mislocation of the protein in the cytoplasm and reduced interaction with PRPF6; the result may be a deficiency in splicing function in the retina. 3 PublicationsCorresponds to variant dbSNP:rs119475043EnsemblClinVar.1
Natural variantiVAR_025631216A → P in RP11; mislocation of the protein in the cytoplasm, but no effect on interaction with PRPF6; the result may be a deficiency in splicing function in the retina. 4 PublicationsCorresponds to variant dbSNP:rs119475042EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0175811 – 80Missing in isoform 3. 1 PublicationAdd BLAST80
Alternative sequenceiVSP_017582333 – 364EPPPV…RKMKE → RRRWLRPTRSISPAWLSSSR SRARRVALCPPE in isoform 2. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_017583359 – 499Missing in isoform 3. 1 PublicationAdd BLAST141
Alternative sequenceiVSP_017584365 – 499Missing in isoform 2. 1 PublicationAdd BLAST135
Alternative sequenceiVSP_057390426 – 499RTLQK…GLMST → VWARPRWGWGPRDTRWGEPR SQPPCPPHSGPCRSRASYMA GSPPSATAPRARPPAWPSPH SRAWRL in isoform 4. 1 PublicationAdd BLAST74

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY040822 mRNA Translation: AAK77986.1
AF308303 mRNA Translation: AAG48270.1
AL050369 mRNA Translation: CAB43677.1
AK098547 mRNA Translation: BAC05329.1
AB593024 mRNA Translation: BAJ83978.1
AB593025 mRNA Translation: BAJ83979.1
AC012314 Genomic DNA No translation available.
AC245052 Genomic DNA No translation available.
CH471135 Genomic DNA Translation: EAW72190.1
BC117389 mRNA Translation: AAI17390.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS12879.1 [Q8WWY3-1]

NCBI Reference Sequences

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RefSeqi
NP_056444.3, NM_015629.3 [Q8WWY3-1]
XP_006723200.1, XM_006723137.3 [Q8WWY3-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.515598

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000321030; ENSP00000324122; ENSG00000105618 [Q8WWY3-1]
ENST00000419967; ENSP00000405166; ENSG00000105618 [Q8WWY3-4]
ENST00000613693; ENSP00000483929; ENSG00000275885 [Q8WWY3-1]
ENST00000619391; ENSP00000480636; ENSG00000275885 [Q8WWY3-4]

Database of genes from NCBI RefSeq genomes

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GeneIDi
26121

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:26121

UCSC genome browser

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UCSCi
uc002qdh.3 human [Q8WWY3-1]
uc061cmv.1 human

Keywords - Coding sequence diversityi

Alternative splicing

<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
AY040822 mRNA Translation: AAK77986.1
AF308303 mRNA Translation: AAG48270.1
AL050369 mRNA Translation: CAB43677.1
AK098547 mRNA Translation: BAC05329.1
AB593024 mRNA Translation: BAJ83978.1
AB593025 mRNA Translation: BAJ83979.1
AC012314 Genomic DNA No translation available.
AC245052 Genomic DNA No translation available.
CH471135 Genomic DNA Translation: EAW72190.1
BC117389 mRNA Translation: AAI17390.1
CCDSiCCDS12879.1 [Q8WWY3-1]
RefSeqiNP_056444.3, NM_015629.3 [Q8WWY3-1]
XP_006723200.1, XM_006723137.3 [Q8WWY3-1]
UniGeneiHs.515598

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2OZBX-ray2.60B/E78-333[»]
3JCRelectron microscopy7.00J1-499[»]
3SIUX-ray2.63B/E85-333[»]
3SIVX-ray3.30B/E/H/K85-333[»]
5O9Zelectron microscopy4.50H1-499[»]
6AH0electron microscopy5.70L1-499[»]
6AHDelectron microscopy3.80L1-499[»]
ProteinModelPortaliQ8WWY3
SMRiQ8WWY3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117563, 184 interactors
CORUMiQ8WWY3
IntActiQ8WWY3, 178 interactors
MINTiQ8WWY3
STRINGi9606.ENSP00000324122

PTM databases

iPTMnetiQ8WWY3
PhosphoSitePlusiQ8WWY3

Polymorphism and mutation databases

BioMutaiPRPF31
DMDMi90101442

Proteomic databases

EPDiQ8WWY3
jPOSTiQ8WWY3
MaxQBiQ8WWY3
PaxDbiQ8WWY3
PeptideAtlasiQ8WWY3
PRIDEiQ8WWY3
ProteomicsDBi74955
74956 [Q8WWY3-2]
74957 [Q8WWY3-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
26121
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000321030; ENSP00000324122; ENSG00000105618 [Q8WWY3-1]
ENST00000419967; ENSP00000405166; ENSG00000105618 [Q8WWY3-4]
ENST00000613693; ENSP00000483929; ENSG00000275885 [Q8WWY3-1]
ENST00000619391; ENSP00000480636; ENSG00000275885 [Q8WWY3-4]
GeneIDi26121
KEGGihsa:26121
UCSCiuc002qdh.3 human [Q8WWY3-1]
uc061cmv.1 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
26121
DisGeNETi26121
EuPathDBiHostDB:ENSG00000105618.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PRPF31
GeneReviewsiPRPF31

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0027609
HIX0137464
HGNCiHGNC:15446 PRPF31
HPAiHPA041939
HPA061873
MalaCardsiPRPF31
MIMi600138 phenotype
606419 gene
neXtProtiNX_Q8WWY3
OpenTargetsiENSG00000105618
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA33814

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2574 Eukaryota
COG1498 LUCA
GeneTreeiENSGT00550000075069
HOGENOMiHOG000207983
HOVERGENiHBG082193
InParanoidiQ8WWY3
KOiK12844
OMAiFTRDKYS
OrthoDBi791296at2759
PhylomeDBiQ8WWY3
TreeFamiTF300677

Enzyme and pathway databases

ReactomeiR-HSA-72163 mRNA Splicing - Major Pathway

Miscellaneous databases

EvolutionaryTraceiQ8WWY3

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
PRPF31

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

More...
GenomeRNAii
26121

Protein Ontology

More...
PROi
PR:Q8WWY3

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000105618 Expressed in 235 organ(s), highest expression level in heart left ventricle
ExpressionAtlasiQ8WWY3 baseline and differential
GenevisibleiQ8WWY3 HS

Family and domain databases

Gene3Di1.10.287.660, 1 hit
InterProiView protein in InterPro
IPR029012 Helix_hairpin_bin_sf
IPR002687 Nop_dom
IPR036070 Nop_dom_sf
IPR012976 NOSIC
IPR027105 Prp31
IPR019175 Prp31_C
PANTHERiPTHR13904 PTHR13904, 1 hit
PfamiView protein in Pfam
PF01798 Nop, 1 hit
PF09785 Prp31_C, 1 hit
SMARTiView protein in SMART
SM00931 NOSIC, 1 hit
SUPFAMiSSF89124 SSF89124, 1 hit
PROSITEiView protein in PROSITE
PS51358 NOP, 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 nameiPRP31_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: Q8WWY3
Secondary accession number(s): E7ESA8
, F1T0A4, F1T0A5, Q17RB4, Q8N7F9, Q9H271, Q9Y439
<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: March 21, 2006
Last sequence update: March 21, 2006
Last modified: February 13, 2019
This is version 156 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. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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