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Entry version 190 (18 Sep 2019)
Sequence version 2 (26 Sep 2003)
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Protein

U4/U6 small nuclear ribonucleoprotein Prp3

Gene

PRPF3

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

Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex).1 Publication2 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

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

SIGNOR Signaling Network Open Resource

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SIGNORi
O43395

<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 Prp3
Alternative name(s):
Pre-mRNA-splicing factor 3
Short name:
hPrp3
U4/U6 snRNP 90 kDa protein
<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:PRPF3
Synonyms:HPRP31 Publication, PRP3
<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 1

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:17348 PRPF3

Online Mendelian Inheritance in Man (OMIM)

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MIMi
607301 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O43395

<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 18 (RP18)3 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.
Related information in OMIM
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_046735493P → S in RP18. 1 PublicationCorresponds to variant dbSNP:rs121434242EnsemblClinVar.1
Natural variantiVAR_016877494T → M in RP18; reduces phosphorylation; impairs binding to PRPF4; impairs self-association; affects interaction with the U4/U5/U6 tri-snRNP complex; does not affect global pre-mRNA splicing. 3 PublicationsCorresponds to variant dbSNP:rs121434241EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...
DisGeNETi
9129

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

More...
GeneReviewsi
PRPF3

MalaCards human disease database

More...
MalaCardsi
PRPF3
MIMi601414 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000117360

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
PA134892509

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PRPF3

<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_00000970441 – 683U4/U6 small nuclear ribonucleoprotein Prp3Add BLAST683

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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-linki139Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
<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 residuei164PhosphoserineCombined sources1
Modified residuei167PhosphothreonineCombined sources1
Cross-linki244Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki252Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei619PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated. Undergoes 'Lys-63'-linked polyubiquitination by PRPF19 and deubiquitination by USP4. 'Lys-63'-linked ubiquitination increases the affinity for PRPF8 and may regulate the assembly of the U4/U6-U5 tri-snRNP complex.1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O43395

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O43395

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
O43395

MaxQB - The MaxQuant DataBase

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MaxQBi
O43395

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

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PaxDbi
O43395

PeptideAtlas

More...
PeptideAtlasi
O43395

PRoteomics IDEntifications database

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PRIDEi
O43395

ProteomicsDB human proteome resource

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ProteomicsDBi
48921 [O43395-1]
5058

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O43395

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

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PhosphoSitePlusi
O43395

SwissPalm database of S-palmitoylation events

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SwissPalmi
O43395

Miscellaneous databases

CutDB - Proteolytic event database

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PMAP-CutDBi
O43395

<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

Highly expressed in retina, liver, kidney and blood. Detected at lower levels in heart and brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000117360 Expressed in 227 organ(s), highest expression level in left lobe of thyroid gland

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O43395 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA027226
HPA067116

<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

Component of the precatalytic spliceosome (spliceosome B complex) (PubMed:28781166).

Component of the U4/U6-U5 tri-snRNP complex, a building block of the precatalytic spliceosome (spliceosome B complex) (PubMed:9328476, PubMed:9404889, PubMed:28781166, PubMed:26912367, PubMed:17932117). The U4/U6-U5 tri-snRNP complex is composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF, SNRPG, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39, plus LSM2, LSM3, LSM4, LSM5, LSM6, LSM7 and LSM8 (PubMed:16723661, PubMed:26912367).

Interacts directly with PRPF4 (PubMed:9328476, PubMed:9404889, PubMed:17932117).

Part of a heteromeric complex containing PPIH, PRPF3 and PRPF4 that is stable in the absence of RNA (PubMed:9404889).

Interacts with SART3; the interaction is direct and recruits the deubiquitinase USP4 to PRPF3 (PubMed:15314151, PubMed:20595234).

Interacts with PRPF19.

Interacts ('Lys-63'-linked polyubiquitinated) with PRPF8 (via the MPN (JAB/Mov34) domain); may stabilize the U4/U6-U5 tri-snRNP complex (PubMed:20595234).

8 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)

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BioGridi
114577, 157 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O43395

Database of interacting proteins

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DIPi
DIP-34508N

Protein interaction database and analysis system

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IntActi
O43395, 95 interactors

Molecular INTeraction database

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MINTi
O43395

STRING: functional protein association networks

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STRINGi
9606.ENSP00000315379

<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

1683
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
O43395

Database of comparative protein structure models

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ModBasei
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
O43395

<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>Domaini1 – 87PWIPROSITE-ProRule annotationAdd BLAST87

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>Regioni416 – 550Mediates interaction with SART31 PublicationAdd BLAST135

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 biasi579 – 584Poly-Val6

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2769 Eukaryota
ENOG410XQV0 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000011497

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000205412

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O43395

KEGG Orthology (KO)

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KOi
K12843

Identification of Orthologs from Complete Genome Data

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OMAi
EWWDSFI

Database of Orthologous Groups

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OrthoDBi
1322299at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O43395

TreeFam database of animal gene trees

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TreeFami
TF313082

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR010541 DUF1115
IPR013881 Pre-mRNA_splic_Prp3
IPR027104 Prp3
IPR002483 PWI_dom
IPR036483 PWI_dom_sf

The PANTHER Classification System

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PANTHERi
PTHR14212 PTHR14212, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF06544 DUF1115, 1 hit
PF08572 PRP3, 1 hit
PF01480 PWI, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00311 PWI, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF101233 SSF101233, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51025 PWI, 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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)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 2 <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
Isoform 1 (identifier: O43395-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MALSKRELDE LKPWIEKTVK RVLGFSEPTV VTAALNCVGK GMDKKKAADH
60 70 80 90 100
LKPFLDDSTL RFVDKLFEAV EEGRSSRHSK SSSDRSRKRE LKEVFGDDSE
110 120 130 140 150
ISKESSGVKK RRIPRFEEVE EEPEVIPGPP SESPGMLTKL QIKQMMEAAT
160 170 180 190 200
RQIEERKKQL SFISPPTPQP KTPSSSQPER LPIGNTIQPS QAATFMNDAI
210 220 230 240 250
EKARKAAELQ ARIQAQLALK PGLIGNANMV GLANLHAMGI APPKVELKDQ
260 270 280 290 300
TKPTPLILDE QGRTVDATGK EIELTHRMPT LKANIRAVKR EQFKQQLKEK
310 320 330 340 350
PSEDMESNTF FDPRVSIAPS QRQRRTFKFH DKGKFEKIAQ RLRTKAQLEK
360 370 380 390 400
LQAEISQAAR KTGIHTSTRL ALIAPKKELK EGDIPEIEWW DSYIIPNGFD
410 420 430 440 450
LTEENPKRED YFGITNLVEH PAQLNPPVDN DTPVTLGVYL TKKEQKKLRR
460 470 480 490 500
QTRREAQKEL QEKVRLGLMP PPEPKVRISN LMRVLGTEAV QDPTKVEAHV
510 520 530 540 550
RAQMAKRQKA HEEANAARKL TAEQRKVKKI KKLKEDISQG VHISVYRVRN
560 570 580 590 600
LSNPAKKFKI EANAGQLYLT GVVVLHKDVN VVVVEGGPKA QKKFKRLMLH
610 620 630 640 650
RIKWDEQTSN TKGDDDEESD EEAVKKTNKC VLVWEGTAKD RSFGEMKFKQ
660 670 680
CPTENMAREH FKKHGAEHYW DLALSESVLE STD
Length:683
Mass (Da):77,529
Last modified:September 26, 2003 - 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:i4AA6AA4C99110284
GO
Isoform 2 (identifier: O43395-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-135: Missing.
     402-416: TEENPKREDYFGITN → GKSQERRLFWNHKSC
     417-683: Missing.

Note: No experimental confirmation available.
Show »
Length:281
Mass (Da):31,889
Checksum:i35DEDDAF71195A31
GO

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 conflicti142I → T in AAC09069 (PubMed:9328476).Curated1
Sequence conflicti273 – 274EL → SV in AAC09069 (PubMed:9328476).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05128612K → N. Corresponds to variant dbSNP:rs12736964Ensembl.1
Natural variantiVAR_046735493P → S in RP18. 1 PublicationCorresponds to variant dbSNP:rs121434242EnsemblClinVar.1
Natural variantiVAR_016877494T → M in RP18; reduces phosphorylation; impairs binding to PRPF4; impairs self-association; affects interaction with the U4/U5/U6 tri-snRNP complex; does not affect global pre-mRNA splicing. 3 PublicationsCorresponds to variant dbSNP:rs121434241EnsemblClinVar.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_0562651 – 135Missing in isoform 2. 1 PublicationAdd BLAST135
Alternative sequenceiVSP_056266402 – 416TEENP…FGITN → GKSQERRLFWNHKSC in isoform 2. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_056267417 – 683Missing in isoform 2. 1 PublicationAdd BLAST267

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

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DDBJi
Links Updated
AF001947 mRNA Translation: AAC09069.1
AF016370 mRNA Translation: AAC51926.1
AK299980 mRNA Translation: BAG61801.1
AL611942 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW53556.1
BC000184 mRNA Translation: AAH00184.1
BC001954 mRNA Translation: AAH01954.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS951.1 [O43395-1]

Protein sequence database of the Protein Information Resource

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PIRi
T50839
T50840

NCBI Reference Sequences

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RefSeqi
NP_004689.1, NM_004698.2 [O43395-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000324862; ENSP00000315379; ENSG00000117360 [O43395-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
9129

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9129

UCSC genome browser

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UCSCi
uc001eum.5 human [O43395-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
AF001947 mRNA Translation: AAC09069.1
AF016370 mRNA Translation: AAC51926.1
AK299980 mRNA Translation: BAG61801.1
AL611942 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW53556.1
BC000184 mRNA Translation: AAH00184.1
BC001954 mRNA Translation: AAH01954.1
CCDSiCCDS951.1 [O43395-1]
PIRiT50839
T50840
RefSeqiNP_004689.1, NM_004698.2 [O43395-1]

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
1X4QNMR-A1-79[»]
3JCRelectron microscopy7.00K1-683[»]
5O9Zelectron microscopy4.50E1-683[»]
6AH0electron microscopy5.70J1-683[»]
6AHDelectron microscopy3.80J1-683[»]
6QW6electron microscopy2.924A1-683[»]
6QX9electron microscopy3.284A1-683[»]
SMRiO43395
ModBaseiSearch...

Protein-protein interaction databases

BioGridi114577, 157 interactors
CORUMiO43395
DIPiDIP-34508N
IntActiO43395, 95 interactors
MINTiO43395
STRINGi9606.ENSP00000315379

PTM databases

iPTMnetiO43395
PhosphoSitePlusiO43395
SwissPalmiO43395

Polymorphism and mutation databases

BioMutaiPRPF3

Proteomic databases

EPDiO43395
jPOSTiO43395
MassIVEiO43395
MaxQBiO43395
PaxDbiO43395
PeptideAtlasiO43395
PRIDEiO43395
ProteomicsDBi48921 [O43395-1]
5058

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
9129
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000324862; ENSP00000315379; ENSG00000117360 [O43395-1]
GeneIDi9129
KEGGihsa:9129
UCSCiuc001eum.5 human [O43395-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9129
DisGeNETi9129

GeneCards: human genes, protein and diseases

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GeneCardsi
PRPF3
GeneReviewsiPRPF3
HGNCiHGNC:17348 PRPF3
HPAiHPA027226
HPA067116
MalaCardsiPRPF3
MIMi601414 phenotype
607301 gene
neXtProtiNX_O43395
OpenTargetsiENSG00000117360
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA134892509

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2769 Eukaryota
ENOG410XQV0 LUCA
GeneTreeiENSGT00390000011497
HOGENOMiHOG000205412
InParanoidiO43395
KOiK12843
OMAiEWWDSFI
OrthoDBi1322299at2759
PhylomeDBiO43395
TreeFamiTF313082

Enzyme and pathway databases

ReactomeiR-HSA-72163 mRNA Splicing - Major Pathway
SIGNORiO43395

Miscellaneous databases

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

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ChiTaRSi
PRPF3 human
EvolutionaryTraceiO43395

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PRPF3

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

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GenomeRNAii
9129

Pharos

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Pharosi
O43395
PMAP-CutDBiO43395

Protein Ontology

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PROi
PR:O43395

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000117360 Expressed in 227 organ(s), highest expression level in left lobe of thyroid gland
GenevisibleiO43395 HS

Family and domain databases

InterProiView protein in InterPro
IPR010541 DUF1115
IPR013881 Pre-mRNA_splic_Prp3
IPR027104 Prp3
IPR002483 PWI_dom
IPR036483 PWI_dom_sf
PANTHERiPTHR14212 PTHR14212, 1 hit
PfamiView protein in Pfam
PF06544 DUF1115, 1 hit
PF08572 PRP3, 1 hit
PF01480 PWI, 1 hit
SMARTiView protein in SMART
SM00311 PWI, 1 hit
SUPFAMiSSF101233 SSF101233, 1 hit
PROSITEiView protein in PROSITE
PS51025 PWI, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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 nameiPRPF3_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: O43395
Secondary accession number(s): B4DSY9, O43446, Q5VT54
<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: September 26, 2003
Last sequence update: September 26, 2003
Last modified: September 18, 2019
This is version 190 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 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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