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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_section">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 ‘Function’ 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 ‘Function’ 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

  • exopolyphosphatase activity Source: GO_Central
  • inorganic diphosphatase activity Source: UniProtKB-EC
  • metal ion binding Source: UniProtKB-KW
  • phosphatase activity Source: UniProtKB
  • tubulin binding Source: UniProtKB

GO - Biological processi

  • polyphosphate catabolic process Source: GO_Central
  • regulation of microtubule polymerization Source: UniProtKB
  • regulation of neurogenesis Source: UniProtKB

<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

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_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:
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_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:PRUNE1Imported
Synonyms:PRUNE
<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

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000143363.15

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

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

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

Keywords - Cellular componenti

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 mutations 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.
See also OMIM:617481
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:rs1057521927Ensembl.1
Natural variantiVAR_07898754P → T in NMIHBA; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1085308033Ensembl.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_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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 mutation, 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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134939749

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2079850

Polymorphism and mutation 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.<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

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jPOSTi
Q86TP1

MaxQB - The MaxQuant DataBase

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MaxQBi
Q86TP1

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

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PaxDbi
Q86TP1

PeptideAtlas

More...
PeptideAtlasi
Q86TP1

PRoteomics IDEntifications database

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PRIDEi
Q86TP1

ProteomicsDB human proteome resource

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ProteomicsDBi
69719
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 242 organ(s), highest expression level in secondary oocyte

CleanEx database of gene expression profiles

More...
CleanExi
HS_PRUNE

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
HPA028411

<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

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

WithEntry#Exp.IntActNotes
NME1P155312EBI-2127112,EBI-741141

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
121827, 19 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q86TP1

Protein interaction database and analysis system

More...
IntActi
Q86TP1, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000271620

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q86TP1

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q86TP1

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

More...
SMRi
Q86TP1

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<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
COG1227 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00450000040262

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG058142

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q86TP1

KEGG Orthology (KO)

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KOi
K01514

Identification of Orthologs from Complete Genome Data

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OMAi
VILVDHH

Database of Orthologous Groups

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OrthoDBi
1545660at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q86TP1

TreeFam database of animal gene trees

More...
TreeFami
TF323914

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.10.310.20, 1 hit

Integrated resource of protein families, domains and functional sites

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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

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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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (7+)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 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.<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 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
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

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
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>
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>
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>

<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:rs1057521927Ensembl.1
Natural variantiVAR_07898754P → T in NMIHBA; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1085308033Ensembl.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<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

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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
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

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

NCBI Reference Sequences

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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]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.78524

Genome annotation databases

Ensembl eukaryotic genome annotation project

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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

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GeneIDi
58497

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:58497

UCSC genome browser

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UCSCi
uc001ewh.2 human [Q86TP1-1]

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
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]
UniGeneiHs.78524

3D structure databases

ProteinModelPortaliQ86TP1
SMRiQ86TP1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121827, 19 interactors
CORUMiQ86TP1
IntActiQ86TP1, 2 interactors
STRINGi9606.ENSP00000271620

Chemistry databases

BindingDBiQ86TP1
ChEMBLiCHEMBL2079850

PTM databases

iPTMnetiQ86TP1
PhosphoSitePlusiQ86TP1

Polymorphism and mutation databases

BioMutaiPRUNE1
DMDMi229462737

Proteomic databases

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

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
58497
Structural Biology KnowledgebaseSearch...

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

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CTDi
58497
DisGeNETi58497
EuPathDBiHostDB:ENSG00000143363.15

GeneCards: human genes, protein and diseases

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GeneCardsi
PRUNE1

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0001042
HGNCiHGNC:13420 PRUNE1
HPAiHPA028411
MalaCardsiPRUNE1
MIMi617413 gene
617481 phenotype
neXtProtiNX_Q86TP1
OpenTargetsiENSG00000143363
PharmGKBiPA134939749

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4129 Eukaryota
COG1227 LUCA
GeneTreeiENSGT00450000040262
HOVERGENiHBG058142
InParanoidiQ86TP1
KOiK01514
OMAiVILVDHH
OrthoDBi1545660at2759
PhylomeDBiQ86TP1
TreeFamiTF323914

Enzyme and pathway databases

SABIO-RKiQ86TP1

Miscellaneous databases

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

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GenomeRNAii
58497

Protein Ontology

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PROi
PR:Q86TP1

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000143363 Expressed in 242 organ(s), highest expression level in secondary oocyte
CleanExiHS_PRUNE
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

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ProtoNeti
Search...

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry 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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 10, 2008
Last sequence update: May 5, 2009
Last modified: January 16, 2019
This is version 128 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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 chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
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