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UniProtKB - Q86TP1 (PRUN1_HUMAN)

Entry version 143 (07 Apr 2021)
Sequence version 2 (05 May 2009)
Previous versions | rss
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Protein

Exopolyphosphatase PRUNE1

Gene

PRUNE1

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

Phosphodiesterase (PDE) that has higher activity toward cAMP than cGMP, as substrate. Plays a role in cell proliferation, migration and differentiation, and acts as a negative regulator of NME1. Plays a role in the regulation of neurogenesis (PubMed:28334956). Involved in the regulation of microtubule polymerization (PubMed:28334956).6 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mn2+By similarityNote: Binds 2 manganese ions per subunit.By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Activated by magnesium ions and inhibited by manganese ions. Inhibited by dipyridamole, moderately sensitive to IBMX and inhibited by vinpocetine.1 Publication

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=0.91 µM for cAMP2 Publications
  2. KM=2.3 µM for cGMP2 Publications
  1. Vmax=12.8 pmol/min/µg enzyme with cAMP as substrate2 Publications
  2. Vmax=0.8 pmol/min/µg enzyme with cGMP as substrate2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi28Manganese 1By similarity1
Metal bindingi30Manganese 2By similarity1
Metal bindingi106Manganese 1By similarity1
Metal bindingi106Manganese 2By similarity1
Metal bindingi179Manganese 2By similarity1

<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

Molecular functionHydrolase
LigandManganese, Metal-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q86TP1

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		Q86TP1

<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:
Exopolyphosphatase PRUNE1 (EC:3.6.1.1)
Alternative name(s):
Drosophila-related expressed sequence 17
Short name:
DRES-17
Short name:
DRES17
HTcD37
Protein prune homolog 1
Short name:
hPrune
<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:PRUNE1Imported
Synonyms:PRUNE
<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

Human Gene Nomenclature Database

More...HGNCi		HGNC:13420, PRUNE1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		617413, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q86TP1

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000143363.15

<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

Keywords - Cellular componenti

Cell junction, Cytoplasm, Nucleus

<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

Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive neurodevelopmental and degenerative disorder characterized by primary microcephaly, profound global developmental delay, and severe intellectual disability. Additional clinical features include dysmorphic features, truncal hypotonia, peripheral spasticity, and lack of independent ambulation or speech acquisition. Brain imaging shows cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination.
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_07898630D → N in NMIHBA; loss of function in regulation of cell proliferation and migration; loss of function in neurogenesis; impaired regulation of microtubule polymerization; increased phosphatase activity; no effect on interaction with tubulin beta. 2 PublicationsCorresponds to variant dbSNP:rs1057521927EnsemblClinVar.1
Natural variantiVAR_07898754P → T in NMIHBA; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1085308033EnsemblClinVar.1
Natural variantiVAR_078988106D → N in NMIHBA. 2 PublicationsCorresponds to variant dbSNP:rs773618224EnsemblClinVar.1
Natural variantiVAR_078989128R → Q in NMIHBA. 1 PublicationCorresponds to variant dbSNP:rs767769359EnsemblClinVar.1
Natural variantiVAR_078990174 – 453Missing in NMIHBA. 1 PublicationAdd BLAST280
Natural variantiVAR_078991297R → W in NMIHBA; loss of function in regulation of cell proliferation and migration; loss of function in neurogenesis; impaired regulation of microtubule polymerization; increased phosphatase activity; decreased interaction with tubulin beta. 1 PublicationCorresponds to variant dbSNP:rs752599948EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'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>Mutagenesisi28D → A: Partial loss of cAMP PDE activity. Partial loss of cAMP PDE activity; when associated with D-106. Partial loss of cAMP PDE activity; when associated with D-106 and D-179. 1 Publication1
Mutagenesisi106D → A: No change in cAMP PDE activity. Partial loss of cAMP PDE activity; when associated with D-28. Partial loss of cAMP PDE activity; when associated with D-28 and D-179. 1 Publication1
Mutagenesisi126 – 129DHRP → AAAA: Partial loss of cAMP PDE activity. 1 Publication4
Mutagenesisi179D → A: Partial loss of cAMP PDE activity. Partial loss of cAMP PDE activity; when associated with D-28 and D-106. 1 Publication1

Keywords - Diseasei

Disease variant, Mental retardation, Neurodegeneration, Primary microcephaly

Organism-specific databases

DisGeNET

More...DisGeNETi		58497

MalaCards human disease database

More...MalaCardsi		PRUNE1
MIMi617481, phenotype

Open Targets

More...OpenTargetsi		ENSG00000143363

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

More...Orphaneti		544469, PRUNE1-related neurological syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134939749

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q86TP1, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL2079850

DrugCentral

More...DrugCentrali		Q86TP1

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PRUNE1

Domain mapping of disease mutations (DMDM)

More...DMDMi		229462737

<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_00003379871 – 453Exopolyphosphatase PRUNE1Add BLAST453

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 residuei1N-acetylmethionineCombined sources1
Modified residuei399PhosphoserineBy similarity1
Modified residuei410PhosphothreonineBy similarity1
Modified residuei414PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q86TP1

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q86TP1

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q86TP1

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q86TP1

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

More...PaxDbi		Q86TP1

PeptideAtlas

More...PeptideAtlasi		Q86TP1

PRoteomics IDEntifications database

More...PRIDEi		Q86TP1

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		69719 [Q86TP1-1]
69720 [Q86TP1-2]
69721 [Q86TP1-3]
69722 [Q86TP1-4]
69723 [Q86TP1-5]
69724 [Q86TP1-6]
69725 [Q86TP1-7]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q86TP1

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

More...PhosphoSitePlusi		Q86TP1

<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. Seems to be overexpressed in aggressive sarcoma subtypes, such as leiomyosarcomas and malignant fibrous histiocytomas (MFH) as well as in the less malignant liposarcomas.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000143363, Expressed in secondary oocyte and 253 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q86TP1, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q86TP1, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000143363, 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

Homooligomer. Able to homodimerize via its C-terminal domain.

Interacts with NME1.

Interacts with GSK3; at focal adhesion complexes where paxillin and vinculin are colocalized.

Interacts with alpha and beta tubulin (PubMed:28334956).

6 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

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		121827, 21 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q86TP1

Protein interaction database and analysis system

More...IntActi		Q86TP1, 10 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000271620

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q86TP1

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q86TP1, 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

3D structure databases

Biological Magnetic Resonance Data Bank

More...BMRBi		Q86TP1

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

More...SMRi		Q86TP1

Database of comparative protein structure models

More...ModBasei		Search...

<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

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>Regioni393 – 420Essential for homodimerizationAdd BLAST28

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>Motifi106 – 108DHH motif3

<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 PPase class C family. Prune subfamily.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4129, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00450000040262

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_019358_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q86TP1

Identification of Orthologs from Complete Genome Data

More...OMAi		RHLLVWG

Database of Orthologous Groups

More...OrthoDBi		1545660at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q86TP1

TreeFam database of animal gene trees

More...TreeFami		TF323914

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.10.310.20, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001667, DDH_dom
IPR038763, DHH_sf
IPR004097, DHHA2
IPR038222, DHHA2_dom_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01368, DHH, 1 hit
PF02833, DHHA2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01131, DHHA2, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF64182, SSF64182, 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 (7+)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 7 <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

This entry has 7 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q86TP1-1) [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
MEDYLQGCRA ALQESRPLHV VLGNEACDLD STVSALALAF YLAKTTEAEE 
        60         70         80         90        100
VFVPVLNIKR SELPLRGDIV FFLQKVHIPE SILIFRDEID LHALYQAGQL 
       110        120        130        140        150
TLILVDHHIL SKSDTALEEA VAEVLDHRPI EPKHCPPCHV SVELVGSCAT 
       160        170        180        190        200
LVTERILQGA PEILDRQTAA LLHGTIILDC VNMDLKIGKA TPKDSKYVEK 
       210        220        230        240        250
LEALFPDLPK RNDIFDSLQK AKFDVSGLTT EQMLRKDQKT IYRQGVKVAI 
       260        270        280        290        300
SAIYMDLEAF LQRSNLLADL HAFCQAHSYD VLVAMTIFFN THNEPVRQLA 
       310        320        330        340        350
IFCPHVALQT TICEVLERSH SPPLKLTPAS STHPNLHAYL QGNTQVSRKK 
       360        370        380        390        400
LLPLLQEALS AYFDSMKIPS GQPETADVSR EQVDKELDRA SNSLISGLSQ 
       410        420        430        440        450
DEEDPPLPPT PMNSLVDECP LDQGLPKLSA EAVFEKCSQI SLSQSTTASL 

SKK
Length:453
Mass (Da):50,200
Last modified:May 5, 2009 - 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:i34BE1909AB89DBD5
GO
Isoform 2 (identifier: Q86TP1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     45-112: TTEAEEVFVPVLNIKRSELPLRGDIVFFLQKVHIPESILIFRDEIDLHALYQAGQLTLILVDHHILSK → A

Show »
Length:386
Mass (Da):42,456
Checksum:i6E3355352353B0A5
GO
Isoform 3 (identifier: Q86TP1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-182: Missing.

Show »
Length:271
Mass (Da):30,127
Checksum:iEADC5693A59D308F
GO
Isoform 4 (identifier: Q86TP1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     15-174: Missing.
     259-311: Missing.

Show »
Length:240
Mass (Da):26,611
Checksum:i7D8897402A2B3136
GO
Isoform 5 (identifier: Q86TP1-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-182: Missing.
     259-311: Missing.

Show »
Length:218
Mass (Da):24,131
Checksum:iDC0632A96FDD07EE
GO
Isoform 6 (identifier: Q86TP1-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-232: Missing.
     259-311: Missing.

Show »
Length:168
Mass (Da):18,478
Checksum:i54405F7EA079B5C2
GO
Isoform 7 (identifier: Q86TP1-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-232: Missing.

Show »
Length:221
Mass (Da):24,475
Checksum:i108DE09A66C5F957
GO

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

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5SZG1Q5SZG1_HUMAN
Exopolyphosphatase PRUNE1
PRUNE1
178Annotation 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>
A0A3B3ITN0A0A3B3ITN0_HUMAN
Exopolyphosphatase PRUNE1
PRUNE1
454Annotation 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>
Q5SZF2Q5SZF2_HUMAN
Exopolyphosphatase PRUNE1
PRUNE1
139Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB55423 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAG60534 differs from that shown. Reason: Erroneous initiation.Curated

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 conflicti14E → A in AAK00592 (Ref. 2) Curated1
Sequence conflicti19 – 22HVVL → AWHE in AAF04914 (PubMed:10524757).Curated4
Sequence conflicti221A → V in AAC95290 (PubMed:10602478).Curated1
Sequence conflicti221A → V in AAF04914 (PubMed:10524757).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07898630D → N in NMIHBA; loss of function in regulation of cell proliferation and migration; loss of function in neurogenesis; impaired regulation of microtubule polymerization; increased phosphatase activity; no effect on interaction with tubulin beta. 2 PublicationsCorresponds to variant dbSNP:rs1057521927EnsemblClinVar.1
Natural variantiVAR_07898754P → T in NMIHBA; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1085308033EnsemblClinVar.1
Natural variantiVAR_078988106D → N in NMIHBA. 2 PublicationsCorresponds to variant dbSNP:rs773618224EnsemblClinVar.1
Natural variantiVAR_078989128R → Q in NMIHBA. 1 PublicationCorresponds to variant dbSNP:rs767769359EnsemblClinVar.1
Natural variantiVAR_078990174 – 453Missing in NMIHBA. 1 PublicationAdd BLAST280
Natural variantiVAR_078991297R → W in NMIHBA; loss of function in regulation of cell proliferation and migration; loss of function in neurogenesis; impaired regulation of microtubule polymerization; increased phosphatase activity; decreased interaction with tubulin beta. 1 PublicationCorresponds to variant dbSNP:rs752599948EnsemblClinVar.1
Natural variantiVAR_059559397G → R. Corresponds to variant dbSNP:rs3738477Ensembl.1
Natural variantiVAR_043728397G → S. Corresponds to variant dbSNP:rs3738477Ensembl.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_0340131 – 232Missing in isoform 6 and isoform 7. 2 PublicationsAdd BLAST232
Alternative sequenceiVSP_0340141 – 182Missing in isoform 3 and isoform 5. 2 PublicationsAdd BLAST182
Alternative sequenceiVSP_03401515 – 174Missing in isoform 4. 1 PublicationAdd BLAST160
Alternative sequenceiVSP_03401645 – 112TTEAE…HILSK → A in isoform 2. 1 PublicationAdd BLAST68
Alternative sequenceiVSP_034017259 – 311Missing in isoform 4, isoform 5 and isoform 6. 3 PublicationsAdd BLAST53

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
AF051907 mRNA Translation: AAC95290.1
AF123538 mRNA Translation: AAK00592.1
AF123539 mRNA Translation: AAK00593.1
AK027875 mRNA Translation: BAB55423.1 Different initiation.
AK294154 mRNA Translation: BAG57478.1
AK298273 mRNA Translation: BAG60534.1 Different initiation.
AK315120 mRNA Translation: BAG37575.1
AL590133 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW53486.1
CH471121 Genomic DNA Translation: EAW53488.1
CH471121 Genomic DNA Translation: EAW53489.1
BC014886 mRNA Translation: AAH14886.1
BC025304 mRNA Translation: AAH25304.1
BC063481 mRNA Translation: AAH63481.1
U67085 mRNA Translation: AAF04914.1
AL122054 mRNA Translation: CAH56396.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS76211.1 [Q86TP1-3]
CCDS977.1 [Q86TP1-1]

NCBI Reference Sequences

More...RefSeqi		NP_001290158.1, NM_001303229.1 [Q86TP1-3]
NP_001290171.1, NM_001303242.1
NP_001290172.1, NM_001303243.1
NP_067045.1, NM_021222.2 [Q86TP1-1]
XP_011508134.1, XM_011509832.2 [Q86TP1-3]
XP_016857445.1, XM_017001956.1 [Q86TP1-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000271620; ENSP00000271620; ENSG00000143363 [Q86TP1-1]
ENST00000368934; ENSP00000357930; ENSG00000143363 [Q86TP1-5]
ENST00000368935; ENSP00000357931; ENSG00000143363 [Q86TP1-6]
ENST00000368936; ENSP00000357932; ENSG00000143363 [Q86TP1-3]
ENST00000368937; ENSP00000357933; ENSG00000143363 [Q86TP1-5]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		58497

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:58497

UCSC genome browser

More...UCSCi		uc001ewh.2, human [Q86TP1-1]

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
AF051907 mRNA Translation: AAC95290.1
AF123538 mRNA Translation: AAK00592.1
AF123539 mRNA Translation: AAK00593.1
AK027875 mRNA Translation: BAB55423.1 Different initiation.
AK294154 mRNA Translation: BAG57478.1
AK298273 mRNA Translation: BAG60534.1 Different initiation.
AK315120 mRNA Translation: BAG37575.1
AL590133 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW53486.1
CH471121 Genomic DNA Translation: EAW53488.1
CH471121 Genomic DNA Translation: EAW53489.1
BC014886 mRNA Translation: AAH14886.1
BC025304 mRNA Translation: AAH25304.1
BC063481 mRNA Translation: AAH63481.1
U67085 mRNA Translation: AAF04914.1
AL122054 mRNA Translation: CAH56396.1
CCDSiCCDS76211.1 [Q86TP1-3]
CCDS977.1 [Q86TP1-1]
RefSeqiNP_001290158.1, NM_001303229.1 [Q86TP1-3]
NP_001290171.1, NM_001303242.1
NP_001290172.1, NM_001303243.1
NP_067045.1, NM_021222.2 [Q86TP1-1]
XP_011508134.1, XM_011509832.2 [Q86TP1-3]
XP_016857445.1, XM_017001956.1 [Q86TP1-3]

3D structure databases

BMRBiQ86TP1
SMRiQ86TP1
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi121827, 21 interactors
CORUMiQ86TP1
IntActiQ86TP1, 10 interactors
STRINGi9606.ENSP00000271620

Chemistry databases

BindingDBiQ86TP1
ChEMBLiCHEMBL2079850
DrugCentraliQ86TP1

PTM databases

iPTMnetiQ86TP1
PhosphoSitePlusiQ86TP1

Genetic variation databases

BioMutaiPRUNE1
DMDMi229462737

Proteomic databases

EPDiQ86TP1
jPOSTiQ86TP1
MassIVEiQ86TP1
MaxQBiQ86TP1
PaxDbiQ86TP1
PeptideAtlasiQ86TP1
PRIDEiQ86TP1
ProteomicsDBi69719 [Q86TP1-1]
69720 [Q86TP1-2]
69721 [Q86TP1-3]
69722 [Q86TP1-4]
69723 [Q86TP1-5]
69724 [Q86TP1-6]
69725 [Q86TP1-7]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		34044, 209 antibodies

The DNASU plasmid repository

More...DNASUi		58497

Genome annotation databases

EnsembliENST00000271620; ENSP00000271620; ENSG00000143363 [Q86TP1-1]
ENST00000368934; ENSP00000357930; ENSG00000143363 [Q86TP1-5]
ENST00000368935; ENSP00000357931; ENSG00000143363 [Q86TP1-6]
ENST00000368936; ENSP00000357932; ENSG00000143363 [Q86TP1-3]
ENST00000368937; ENSP00000357933; ENSG00000143363 [Q86TP1-5]
GeneIDi58497
KEGGihsa:58497
UCSCiuc001ewh.2, human [Q86TP1-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		58497
DisGeNETi58497

GeneCards: human genes, protein and diseases

More...GeneCardsi		PRUNE1
HGNCiHGNC:13420, PRUNE1
HPAiENSG00000143363, Low tissue specificity
MalaCardsiPRUNE1
MIMi617413, gene
617481, phenotype
neXtProtiNX_Q86TP1
OpenTargetsiENSG00000143363
Orphaneti544469, PRUNE1-related neurological syndrome
PharmGKBiPA134939749
VEuPathDBiHostDB:ENSG00000143363.15

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4129, Eukaryota
GeneTreeiENSGT00450000040262
HOGENOMiCLU_019358_2_0_1
InParanoidiQ86TP1
OMAiRHLLVWG
OrthoDBi1545660at2759
PhylomeDBiQ86TP1
TreeFamiTF323914

Enzyme and pathway databases

PathwayCommonsiQ86TP1
SABIO-RKiQ86TP1

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		58497, 70 hits in 1000 CRISPR screens

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

More...ChiTaRSi		PRUNE1, human

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

More...GenomeRNAii		58497
PharosiQ86TP1, Tchem

Protein Ontology

More...PROi		PR:Q86TP1
RNActiQ86TP1, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000143363, Expressed in secondary oocyte and 253 other tissues
ExpressionAtlasiQ86TP1, baseline and differential
GenevisibleiQ86TP1, HS

Family and domain databases

Gene3Di3.10.310.20, 1 hit
InterProiView protein in InterPro
IPR001667, DDH_dom
IPR038763, DHH_sf
IPR004097, DHHA2
IPR038222, DHHA2_dom_sf
PfamiView protein in Pfam
PF01368, DHH, 1 hit
PF02833, DHHA2, 1 hit
SMARTiView protein in SMART
SM01131, DHHA2, 1 hit
SUPFAMiSSF64182, SSF64182, 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 nameiPRUN1_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: Q86TP1
Secondary accession number(s): B2RCH8
, B4DFL7, Q5SZF9, Q659E5, Q6P4E0, Q8N654, Q96JU5, Q9C071, Q9C072, Q9UIV0
<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: June 10, 2008
Last sequence update: May 5, 2009
Last modified: April 7, 2021
This is version 143 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

Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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