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Entry version 160 (08 May 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. 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 similarity3 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>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):
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: Chromosome 17

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

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.
See also OMIM:617404
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

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Orphaneti
559 Marinesco-Sjoegren syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA164720951

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

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 human proteome resource

More...
ProteomicsDBi
78948
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

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ExpressionAtlasi
Q9BT40 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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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)

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BioGridi
119720, 37 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9BT40

Protein interaction database and analysis system

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IntActi
Q9BT40, 26 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

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eggNOGi
KOG0565 Eukaryota
COG5411 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156538

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000046051

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9BT40

KEGG Orthology (KO)

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KOi
K01106

Identification of Orthologs from Complete Genome Data

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OMAi
PEGLWTM

Database of Orthologous Groups

More...
OrthoDBi
772410at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9BT40

TreeFam database of animal gene trees

More...
TreeFami
TF317034

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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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>.<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 '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
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>
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>
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>
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>
J3KN07J3KN07_HUMAN
Inositol polyphosphate 5-phosphatas...
INPP5K
63Annotation 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

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EMBLi

GenBank nucleotide sequence database

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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

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

NCBI Reference Sequences

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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

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000320345; ENSP00000318476; ENSG00000132376 [Q9BT40-2]
ENST00000406424; ENSP00000385177; ENSG00000132376 [Q9BT40-2]
ENST00000421807; ENSP00000413937; ENSG00000132376 [Q9BT40-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
51763

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:51763

UCSC genome browser

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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

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGridi119720, 37 interactors
CORUMiQ9BT40
IntActiQ9BT40, 26 interactors
MINTiQ9BT40
STRINGi9606.ENSP00000413937

Chemistry databases

SwissLipidsiSLP:000000957

PTM databases

DEPODiQ9BT40
iPTMnetiQ9BT40
PhosphoSitePlusiQ9BT40

Polymorphism and mutation databases

BioMutaiINPP5K
DMDMi116242791

Proteomic databases

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

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000320345; ENSP00000318476; ENSG00000132376 [Q9BT40-2]
ENST00000406424; ENSP00000385177; ENSG00000132376 [Q9BT40-2]
ENST00000421807; ENSP00000413937; ENSG00000132376 [Q9BT40-1]
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

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GeneWikii
SKIP

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

More...
GenomeRNAii
51763

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...

<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: May 8, 2019
This is version 160 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. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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