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UniProtKB - O43395 (PRPF3_HUMAN)

Entry version 198 (07 Oct 2020)
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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O43395

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-72163, mRNA Splicing - Major Pathway

SIGNOR Signaling Network Open Resource

More...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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000117360.12

Human Gene Nomenclature Database

More...HGNCi		HGNC:17348, PRPF3

Online Mendelian Inheritance in Man (OMIM)

More...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

More...Orphaneti		791, Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134892509

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O43395, Tbio

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 or proteolytic cleavage.<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%5Fprocessing%5Fsection">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%5Fprocessing%5Fsection">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

More...EPDi		O43395

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O43395

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O43395

MaxQB - The MaxQuant DataBase

More...MaxQBi		O43395

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

More...PaxDbi		O43395

PeptideAtlas

More...PeptideAtlasi		O43395

PRoteomics IDEntifications database

More...PRIDEi		O43395

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		48921 [O43395-1]
5058

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O43395

MetOSite database of methionine sulfoxide sites

More...MetOSitei		O43395

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

More...PhosphoSitePlusi		O43395

SwissPalm database of S-palmitoylation events

More...SwissPalmi		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

More...Bgeei		ENSG00000117360, Expressed in left lobe of thyroid gland and 238 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O43395, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000117360, Low tissue specificity

<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%5Fsection">'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%5Fsection">'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).

Interacts with ERCC6 (PubMed:26030138).

9 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		114577, 187 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		O43395

Database of interacting proteins

More...DIPi		DIP-34508N

Protein interaction database and analysis system

More...IntActi		O43395, 97 interactors

Molecular INTeraction database

More...MINTi		O43395

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000315379

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O43395, protein

<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

More...SMRi		O43395

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...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%5Fand%5Fdomains%5Fsection">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

More...eggNOGi		KOG2769, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000011497

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_015750_3_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O43395

KEGG Orthology (KO)

More...KOi		K12843

Identification of Orthologs from Complete Genome Data

More...OMAi		KNHEMRN

Database of Orthologous Groups

More...OrthoDBi		1322299at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O43395

TreeFam database of animal gene trees

More...TreeFami		TF313082

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...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

More...PANTHERi		PTHR14212, PTHR14212, 1 hit

Pfam protein domain database

More...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

More...SMARTi		View protein in SMART
SM00311, PWI, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF101233, SSF101233, 1 hit

PROSITE; a protein domain and family database

More...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%5Flength">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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.

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

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

More...CCDSi		CCDS951.1 [O43395-1]

Protein sequence database of the Protein Information Resource

More...PIRi		T50839
T50840

NCBI Reference Sequences

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

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000324862; ENSP00000315379; ENSG00000117360 [O43395-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		9129

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:9129

UCSC genome browser

More...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

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...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...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi114577, 187 interactors
CORUMiO43395
DIPiDIP-34508N
IntActiO43395, 97 interactors
MINTiO43395
STRINGi9606.ENSP00000315379

PTM databases

iPTMnetiO43395
MetOSiteiO43395
PhosphoSitePlusiO43395
SwissPalmiO43395

Polymorphism and mutation databases

BioMutaiPRPF3

Proteomic databases

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

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		20281, 172 antibodies

The DNASU plasmid repository

More...DNASUi		9129

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		9129
DisGeNETi9129
EuPathDBiHostDB:ENSG00000117360.12

GeneCards: human genes, protein and diseases

More...GeneCardsi		PRPF3
GeneReviewsiPRPF3
HGNCiHGNC:17348, PRPF3
HPAiENSG00000117360, Low tissue specificity
MalaCardsiPRPF3
MIMi601414, phenotype
607301, gene
neXtProtiNX_O43395
OpenTargetsiENSG00000117360
Orphaneti791, Retinitis pigmentosa
PharmGKBiPA134892509

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2769, Eukaryota
GeneTreeiENSGT00390000011497
HOGENOMiCLU_015750_3_0_1
InParanoidiO43395
KOiK12843
OMAiKNHEMRN
OrthoDBi1322299at2759
PhylomeDBiO43395
TreeFamiTF313082

Enzyme and pathway databases

PathwayCommonsiO43395
ReactomeiR-HSA-72163, mRNA Splicing - Major Pathway
SIGNORiO43395

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		9129, 620 hits in 878 CRISPR screens

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

More...ChiTaRSi		PRPF3, human
EvolutionaryTraceiO43395

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PRPF3

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

More...GenomeRNAii		9129
PharosiO43395, Tbio

Protein Ontology

More...PROi		PR:O43395
RNActiO43395, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000117360, Expressed in left lobe of thyroid gland and 238 other tissues
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

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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%5Fand%5Fisoforms">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: October 7, 2020
This is version 198 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, Direct protein sequencing, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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