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Entry version 165 (16 Oct 2019)
Sequence version 3 (17 Oct 2006)
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Protein

Inositol polyphosphate 5-phosphatase K

Gene

INPP5K

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

Inositol 5-phosphatase which acts on inositol 1,4,5-trisphosphate, inositol 1,3,4,5-tetrakisphosphate, phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate (PubMed:10753883, PubMed:16824732). Has 6-fold higher affinity for phosphatidylinositol 4,5-bisphosphate than for inositol 1,4,5-trisphosphate (PubMed:10753883). Negatively regulates assembly of the actin cytoskeleton. Controls insulin-dependent glucose uptake among inositol 3,4,5-trisphosphate phosphatases; therefore, is the specific regulator for insulin signaling in skeletal muscle (By similarity).By similarity4 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 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=180 µM for phosphatidylinositol 4,5-bisphosphate1 Publication
  2. KM=1.15 mM for phosphatidylinositol 3,4,5-trisphosphate1 Publication

    <p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

    GO - Biological processi

    <p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

    Molecular functionHydrolase

    Enzyme and pathway databases

    BioCyc Collection of Pathway/Genome Databases

    More...
    BioCyci
    MetaCyc:HS05626-MONOMER

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-1660499 Synthesis of PIPs at the plasma membrane

    Chemistry databases

    SwissLipids knowledge resource for lipid biology

    More...
    SwissLipidsi
    SLP:000000957

    <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:
    Inositol polyphosphate 5-phosphatase KCurated (EC:3.1.3.563 Publications)
    Alternative name(s):
    Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase (EC:3.1.3.862 Publications)
    Phosphatidylinositol-4,5-bisphosphate 5-phosphatase (EC:3.1.3.361 Publication)
    Skeletal muscle and kidney-enriched inositol phosphatase1 Publication
    <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:INPP5KImported
    Synonyms:PPS, SKIP1 Publication
    <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)Imported
    <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: Unplaced

    Organism-specific databases

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:33882 INPP5K

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    607875 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q9BT40

    <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

    Cytoplasm, Endoplasmic reticulum

    <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

    Muscular dystrophy, congenital, with cataracts and intellectual disability (MDCCAID)2 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionAn autosomal recessive form of muscular dystrophy with onset in early childhood and characterized by progressive muscle weakness. Almost all patients also have early-onset cataracts and intellectual disability of varying severity. Some patients have seizures.
    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_07899823V → M in MDCCAID; decreased phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. 1 PublicationCorresponds to variant dbSNP:rs750781027EnsemblClinVar.1
    Natural variantiVAR_07899950I → T in MDCCAID; decreased phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity; shows normal localization indistinguishable from the wild-type. 1 PublicationCorresponds to variant dbSNP:rs1060505038EnsemblClinVar.1
    Natural variantiVAR_07900093M → V in MDCCAID; decreased phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. 1 PublicationCorresponds to variant dbSNP:rs1060505039EnsemblClinVar.1
    Natural variantiVAR_079001140G → S in MDCCAID; no phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. 1 PublicationCorresponds to variant dbSNP:rs749383757EnsemblClinVar.1
    Natural variantiVAR_079002269D → N in MDCCAID; no phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. 1 PublicationCorresponds to variant dbSNP:rs761612652EnsemblClinVar.1
    Natural variantiVAR_079003294Missing in MDCCAID; decreased phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity; shows normal localization indistinguishable from the wild-type. 1 Publication1
    Natural variantiVAR_079004300Y → C in MDCCAID; no phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity; shows normal localization indistinguishable from the wild-type. 1 PublicationCorresponds to variant dbSNP:rs766046008EnsemblClinVar.1
    Natural variantiVAR_079005363I → T in MDCCAID; shows a diffuse perinuclear mislocalization. 1 PublicationCorresponds to variant dbSNP:rs993849342Ensembl.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>Mutagenesisi310D → G: No phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. 2 Publications1
    Mutagenesisi349Y → A or F: No effect on EGF-induced ruffle localization. 1 Publication1
    Mutagenesisi361D → A: Significant decrease in EGF-induced ruffle localization. 1 Publication1
    Mutagenesisi362W → A: Significant decrease in EGF-induced ruffle localization. 1 Publication1
    Mutagenesisi376Y → A or F: No effect on EGF-induced ruffle localization. 1 Publication1

    Keywords - Diseasei

    Cataract, Congenital muscular dystrophy, Disease mutation, Mental retardation

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    51763

    MalaCards human disease database

    More...
    MalaCardsi
    INPP5K
    MIMi617404 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000132376

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

    More...
    Orphaneti
    559 Marinesco-Sjoegren syndrome

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA164720951

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...
    Pharosi
    Q9BT40

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    INPP5K

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    116242791

    <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_00002097271 – 448Inositol polyphosphate 5-phosphatase KAdd BLAST448

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    Q9BT40

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    Q9BT40

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...
    MassIVEi
    Q9BT40

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    Q9BT40

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

    More...
    PaxDbi
    Q9BT40

    PeptideAtlas

    More...
    PeptideAtlasi
    Q9BT40

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q9BT40

    ProteomicsDB: a multi-organism proteome resource

    More...
    ProteomicsDBi
    78948 [Q9BT40-1]
    78949 [Q9BT40-2]

    PTM databases

    DEPOD human dephosphorylation database

    More...
    DEPODi
    Q9BT40

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q9BT40

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

    More...
    PhosphoSitePlusi
    Q9BT40

    <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 with highest levels in skeletal muscle, heart and kidney.1 Publication

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000132376 Expressed in 223 organ(s), highest expression level in pigmented layer of retina

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q9BT40 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q9BT40 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA031044

    <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

    Interacts with GPR78; necessary for INPP5K localization at the endoplasmic reticulum.

    Interacts with PAK1; competes with GPR78.

    1 Publication

    <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

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    119720, 37 interactors

    CORUM comprehensive resource of mammalian protein complexes

    More...
    CORUMi
    Q9BT40

    Protein interaction database and analysis system

    More...
    IntActi
    Q9BT40, 38 interactors

    Molecular INTeraction database

    More...
    MINTi
    Q9BT40

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000413937

    <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>Regioni16 – 318CatalyticSequence analysisAdd BLAST303
    Regioni318 – 448Required for interaction with GPR78 and PAK11 PublicationAdd BLAST131
    Regioni321 – 448Required for ruffle localizationAdd BLAST128

    <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

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG0565 Eukaryota
    COG5411 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000156538

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000046051

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q9BT40

    KEGG Orthology (KO)

    More...
    KOi
    K01106

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    PEGLWTM

    Database of Orthologous Groups

    More...
    OrthoDBi
    772410at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q9BT40

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF317034

    Family and domain databases

    Gene3D Structural and Functional Annotation of Protein Families

    More...
    Gene3Di
    3.60.10.10, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR036691 Endo/exonu/phosph_ase_sf
    IPR005135 Endo/exonuclease/phosphatase
    IPR000300 IPPc
    IPR041611 SKICH

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF03372 Exo_endo_phos, 1 hit
    PF17751 SKICH, 1 hit

    Simple Modular Architecture Research Tool; a protein domain database

    More...
    SMARTi
    View protein in SMART
    SM00128 IPPc, 1 hit

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF56219 SSF56219, 1 hit

    <p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

    This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 2 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 11 Publication (identifier: Q9BT40-1) [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
    MSSRKLSGPK GRRLSIHVVT WNVASAAPPL DLSDLLQLNN RNLNLDIYVI
    60 70 80 90 100
    GLQELNSGII SLLSDAAFND SWSSFLMDVL SPLSFIKVSH VRMQGILLLV
    110 120 130 140 150
    FAKYQHLPYI QILSTKSTPT GLFGYWGNKG GVNICLKLYG YYVSIINCHL
    160 170 180 190 200
    PPHISNNYQR LEHFDRILEM QNCEGRDIPN ILDHDLIIWF GDMNFRIEDF
    210 220 230 240 250
    GLHFVRESIK NRCYGGLWEK DQLSIAKKHD PLLREFQEGR LLFPPTYKFD
    260 270 280 290 300
    RNSNDYDTSE KKRKPAWTDR ILWRLKRQPC AGPDTPIPPA SHFSLSLRGY
    310 320 330 340 350
    SSHMTYGISD HKPVSGTFDL ELKPLVSAPL IVLMPEDLWT VENDMMVSYS
    360 370 380 390 400
    STSDFPSSPW DWIGLYKVGL RDVNDYVSYA WVGDSKVSCS DNLNQVYIDI
    410 420 430 440
    SNIPTTEDEF LLCYYSNSLR SVVGISRPFQ IPPGSLREDP LGEAQPQI
    Length:448
    Mass (Da):51,090
    Last modified:October 17, 2006 - v3
    <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:i46FAA48C6E2EEAD4
    GO
    Isoform 21 Publication (identifier: Q9BT40-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-76: Missing.

    Show »
    Length:372
    Mass (Da):42,784
    Checksum:iE257B4890DCD44F3
    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 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    C9JZB0C9JZB0_HUMAN
    Inositol polyphosphate 5-phosphatas...
    INPP5K
    229Annotation 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>
    I3L2L1I3L2L1_HUMAN
    Inositol polyphosphate 5-phosphatas...
    INPP5K
    158Annotation 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>
    I3L4A5I3L4A5_HUMAN
    Inositol polyphosphate 5-phosphatas...
    INPP5K
    154Annotation 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>
    I3L1R1I3L1R1_HUMAN
    Inositol polyphosphate 5-phosphatas...
    INPP5K
    51Annotation 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>
    I3L0Y0I3L0Y0_HUMAN
    Inositol polyphosphate 5-phosphatas...
    INPP5K
    84Annotation 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>
    C9JQW8C9JQW8_HUMAN
    Inositol polyphosphate 5-phosphatas...
    INPP5K
    52Annotation 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>
    I3NI31I3NI31_HUMAN
    Inositol polyphosphate 5-phosphatas...
    INPP5K
    99Annotation 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>
    K7EPG6K7EPG6_HUMAN
    Inositol polyphosphate 5-phosphatas...
    INPP5K
    50Annotation 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>
    K7EMS8K7EMS8_HUMAN
    Inositol polyphosphate 5-phosphatas...
    INPP5K
    38Annotation 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>
    K7ENF7K7ENF7_HUMAN
    Inositol polyphosphate 5-phosphatas...
    INPP5K
    23Annotation 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>
    There is more potential isoformShow all

    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 conflicti120T → A in AAB03214 (Ref. 5) Curated1
    Sequence conflicti416S → R in BAA92340 (PubMed:10753883).Curated1
    Sequence conflicti416S → R in BAA92341 (PubMed:10753883).Curated1
    Sequence conflicti416S → R in BAA92342 (PubMed:10753883).Curated1
    Sequence conflicti416S → R in AAB03214 (Ref. 5) Curated1
    Sequence conflicti426S → R in BAA92340 (PubMed:10753883).Curated1
    Sequence conflicti426S → R in BAA92341 (PubMed:10753883).Curated1
    Sequence conflicti426S → R in BAA92342 (PubMed:10753883).Curated1
    Sequence conflicti426S → R in AAB03214 (Ref. 5) Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_07899823V → M in MDCCAID; decreased phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. 1 PublicationCorresponds to variant dbSNP:rs750781027EnsemblClinVar.1
    Natural variantiVAR_07899950I → T in MDCCAID; decreased phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity; shows normal localization indistinguishable from the wild-type. 1 PublicationCorresponds to variant dbSNP:rs1060505038EnsemblClinVar.1
    Natural variantiVAR_07900093M → V in MDCCAID; decreased phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. 1 PublicationCorresponds to variant dbSNP:rs1060505039EnsemblClinVar.1
    Natural variantiVAR_079001140G → S in MDCCAID; no phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. 1 PublicationCorresponds to variant dbSNP:rs749383757EnsemblClinVar.1
    Natural variantiVAR_079002269D → N in MDCCAID; no phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. 1 PublicationCorresponds to variant dbSNP:rs761612652EnsemblClinVar.1
    Natural variantiVAR_079003294Missing in MDCCAID; decreased phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity; shows normal localization indistinguishable from the wild-type. 1 Publication1
    Natural variantiVAR_079004300Y → C in MDCCAID; no phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity; shows normal localization indistinguishable from the wild-type. 1 PublicationCorresponds to variant dbSNP:rs766046008EnsemblClinVar.1
    Natural variantiVAR_036497315S → F in a breast cancer sample; somatic mutation. 1 Publication1
    Natural variantiVAR_079005363I → T in MDCCAID; shows a diffuse perinuclear mislocalization. 1 PublicationCorresponds to variant dbSNP:rs993849342Ensembl.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_0506121 – 76Missing in isoform 2. 2 PublicationsAdd BLAST76

    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
    AB036829 mRNA Translation: BAA92340.1
    AB036830 mRNA Translation: BAA92341.1
    AB036831 Genomic DNA Translation: BAA92342.1
    AK312585 mRNA Translation: BAG35479.1
    AK312844 mRNA Translation: BAG35697.1
    CH471108 Genomic DNA Translation: EAW90614.1
    CH471108 Genomic DNA Translation: EAW90615.1
    CH471108 Genomic DNA Translation: EAW90618.1
    BC004362 mRNA Translation: AAH04362.1
    U45973 mRNA Translation: AAB03214.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS11004.1 [Q9BT40-1]
    CCDS11005.1 [Q9BT40-2]

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_001129114.1, NM_001135642.1 [Q9BT40-2]
    NP_057616.2, NM_016532.3 [Q9BT40-1]
    NP_570122.1, NM_130766.2 [Q9BT40-2]
    XP_005256740.1, XM_005256683.2 [Q9BT40-2]
    XP_011522236.1, XM_011523934.1 [Q9BT40-2]
    XP_016880244.1, XM_017024755.1
    XP_016880245.1, XM_017024756.1 [Q9BT40-2]

    Genome annotation databases

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    51763

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:51763

    UCSC genome browser

    More...
    UCSCi
    uc002fsr.4 human [Q9BT40-1]

    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
    AB036829 mRNA Translation: BAA92340.1
    AB036830 mRNA Translation: BAA92341.1
    AB036831 Genomic DNA Translation: BAA92342.1
    AK312585 mRNA Translation: BAG35479.1
    AK312844 mRNA Translation: BAG35697.1
    CH471108 Genomic DNA Translation: EAW90614.1
    CH471108 Genomic DNA Translation: EAW90615.1
    CH471108 Genomic DNA Translation: EAW90618.1
    BC004362 mRNA Translation: AAH04362.1
    U45973 mRNA Translation: AAB03214.1
    CCDSiCCDS11004.1 [Q9BT40-1]
    CCDS11005.1 [Q9BT40-2]
    RefSeqiNP_001129114.1, NM_001135642.1 [Q9BT40-2]
    NP_057616.2, NM_016532.3 [Q9BT40-1]
    NP_570122.1, NM_130766.2 [Q9BT40-2]
    XP_005256740.1, XM_005256683.2 [Q9BT40-2]
    XP_011522236.1, XM_011523934.1 [Q9BT40-2]
    XP_016880244.1, XM_017024755.1
    XP_016880245.1, XM_017024756.1 [Q9BT40-2]

    3D structure databases

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    SWISS-MODEL Interactive Workspace

    More...
    SWISS-MODEL-Workspacei
    Submit a new modelling project...

    Protein-protein interaction databases

    BioGridi119720, 37 interactors
    CORUMiQ9BT40
    IntActiQ9BT40, 38 interactors
    MINTiQ9BT40
    STRINGi9606.ENSP00000413937

    Chemistry databases

    SwissLipidsiSLP:000000957

    PTM databases

    DEPODiQ9BT40
    iPTMnetiQ9BT40
    PhosphoSitePlusiQ9BT40

    Polymorphism and mutation databases

    BioMutaiINPP5K
    DMDMi116242791

    Proteomic databases

    EPDiQ9BT40
    jPOSTiQ9BT40
    MassIVEiQ9BT40
    MaxQBiQ9BT40
    PaxDbiQ9BT40
    PeptideAtlasiQ9BT40
    PRIDEiQ9BT40
    ProteomicsDBi78948 [Q9BT40-1]
    78949 [Q9BT40-2]

    Genome annotation databases

    GeneIDi51763
    KEGGihsa:51763
    UCSCiuc002fsr.4 human [Q9BT40-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    51763
    DisGeNETi51763

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    INPP5K
    HGNCiHGNC:33882 INPP5K
    HPAiHPA031044
    MalaCardsiINPP5K
    MIMi607875 gene
    617404 phenotype
    neXtProtiNX_Q9BT40
    OpenTargetsiENSG00000132376
    Orphaneti559 Marinesco-Sjoegren syndrome
    PharmGKBiPA164720951

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG0565 Eukaryota
    COG5411 LUCA
    GeneTreeiENSGT00940000156538
    HOGENOMiHOG000046051
    InParanoidiQ9BT40
    KOiK01106
    OMAiPEGLWTM
    OrthoDBi772410at2759
    PhylomeDBiQ9BT40
    TreeFamiTF317034

    Enzyme and pathway databases

    BioCyciMetaCyc:HS05626-MONOMER
    ReactomeiR-HSA-1660499 Synthesis of PIPs at the plasma membrane

    Miscellaneous databases

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

    More...
    ChiTaRSi
    INPP5K human

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    SKIP

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

    More...
    GenomeRNAii
    51763
    PharosiQ9BT40

    Protein Ontology

    More...
    PROi
    PR:Q9BT40

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000132376 Expressed in 223 organ(s), highest expression level in pigmented layer of retina
    ExpressionAtlasiQ9BT40 baseline and differential
    GenevisibleiQ9BT40 HS

    Family and domain databases

    Gene3Di3.60.10.10, 1 hit
    InterProiView protein in InterPro
    IPR036691 Endo/exonu/phosph_ase_sf
    IPR005135 Endo/exonuclease/phosphatase
    IPR000300 IPPc
    IPR041611 SKICH
    PfamiView protein in Pfam
    PF03372 Exo_endo_phos, 1 hit
    PF17751 SKICH, 1 hit
    SMARTiView protein in SMART
    SM00128 IPPc, 1 hit
    SUPFAMiSSF56219 SSF56219, 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 nameiINP5K_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: Q9BT40
    Secondary accession number(s): B2R6I2
    , B2R750, D3DTH8, Q15733, Q9NPJ5, Q9P2R5
    <p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2003
    Last sequence update: October 17, 2006
    Last modified: October 16, 2019
    This is version 165 of the entry and version 3 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 polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    3. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    4. Human chromosome 17
      Human chromosome 17: 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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