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Protein

72 kDa inositol polyphosphate 5-phosphatase

Gene

INPP5E

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

Converts phosphatidylinositol 3,4,5-trisphosphate (PtdIns 3,4,5-P3) to PtdIns-P2, and phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. Specific for lipid substrates, inactive towards water soluble inositol phosphates.1 Publication

<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 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

Active in the presence of octyl-glucoside or Triton X-100, but completely inhibited by CTAB.1 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
Biological processLipid metabolism

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS09270-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.1.3.36 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-1660514 Synthesis of PIPs at the Golgi membrane
R-HSA-5624958 ARL13B-mediated ciliary trafficking of INPP5E

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000001180

<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:
72 kDa inositol polyphosphate 5-phosphatase (EC:3.1.3.361 Publication)
Alternative name(s):
Phosphatidylinositol 4,5-bisphosphate 5-phosphatase
Phosphatidylinositol polyphosphate 5-phosphatase type IV
<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:INPP5E
<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 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000148384.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:21474 INPP5E

Online Mendelian Inheritance in Man (OMIM)

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MIMi
613037 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NRR6

<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 membrane, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Golgi apparatus, Membrane

<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

Joubert syndrome 1 (JBTS1)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.
See also OMIM:213300
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_077247286G → R in JBTS1. 1 PublicationCorresponds to variant dbSNP:rs757936530Ensembl.1
Natural variantiVAR_077248303V → M in JBTS1. 1 PublicationCorresponds to variant dbSNP:rs746212325EnsemblClinVar.1
Natural variantiVAR_077249345R → S in JBTS1. 1 Publication1
Natural variantiVAR_063012378R → C in JBTS1; slightly reduced activity. 1 PublicationCorresponds to variant dbSNP:rs121918130EnsemblClinVar.1
Natural variantiVAR_077250426T → N in JBTS1. 1 Publication1
Natural variantiVAR_063013435R → Q in JBTS1; severe reduction of activity. 2 PublicationsCorresponds to variant dbSNP:rs121918129EnsemblClinVar.1
Natural variantiVAR_077251474W → R in JBTS1; unknown pathological significance. 1 Publication1
Natural variantiVAR_063014512R → W in JBTS1; associated with W-515; severe reduction of activity. 1 PublicationCorresponds to variant dbSNP:rs374152018Ensembl.1
Natural variantiVAR_063015515R → W in JBTS1; associated with W-512; severe reduction of activity. 1 PublicationCorresponds to variant dbSNP:rs13297509EnsemblClinVar.1
Natural variantiVAR_077252534Y → D in JBTS1. 1 Publication1
Natural variantiVAR_063016563R → H in JBTS1; slightly reduced activity. 2 PublicationsCorresponds to variant dbSNP:rs121918128EnsemblClinVar.1
Natural variantiVAR_063017580K → E in JBTS1; severe reduction of activity. 1 Publication1
Natural variantiVAR_077253585R → C in JBTS1. 1 PublicationCorresponds to variant dbSNP:rs763992407Ensembl.1
Natural variantiVAR_076892621R → Q in JBTS1. 2 Publications1
Natural variantiVAR_077254641C → R in JBTS1. 1 Publication1
Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORMS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by moderate mental retardation, truncal obesity, congenital non-progressive retinal dystrophy, and micropenis in males. The phenotype is similar to Bardet-Biedl syndrome and Cohen syndrome Distinguishing features are the age of onset, the non-progressive nature of the visual impairment, lack of dysmorphic facies, skin or gingival infection, microcephaly, mottled retina, polydactyly, and testicular anomalies.
See also OMIM:610156

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>Mutagenesisi641C → A: Abolishes farnesylation-dependent interaction with PDE6D. 1 Publication1

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome, Mental retardation, Obesity

Organism-specific databases

DisGeNET

More...
DisGeNETi
56623

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
INPP5E

MalaCards human disease database

More...
MalaCardsi
INPP5E
MIMi213300 phenotype
610156 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000148384

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

More...
Orphaneti
475 Joubert syndrome
1454 Joubert syndrome with hepatic defect
220493 Joubert syndrome with ocular defect
75858 MORM syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA164741785

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
INPP5E

Domain mapping of disease mutations (DMDM)

More...
DMDMi
212276439

<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_00002097471 – 64172 kDa inositol polyphosphate 5-phosphatase1 PublicationAdd BLAST641
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_0000431688642 – 644Removed in mature form1 Publication3

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 residuei99PhosphoserineCombined sources1
Modified residuei241PhosphoserineBy similarity1
Modified residuei256PhosphoserineBy similarity1
Modified residuei641Cysteine methyl ester1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi641S-farnesyl cysteine1 Publication1

Keywords - PTMi

Lipoprotein, Methylation, Phosphoprotein, Prenylation

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NRR6

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

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PaxDbi
Q9NRR6

PeptideAtlas

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PeptideAtlasi
Q9NRR6

PRoteomics IDEntifications database

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PRIDEi
Q9NRR6

ProteomicsDB human proteome resource

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ProteomicsDBi
82414
82415 [Q9NRR6-2]

PTM databases

DEPOD human dephosphorylation database

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DEPODi
Q9NRR6

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9NRR6

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

More...
PhosphoSitePlusi
Q9NRR6

<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

Detected in brain, heart, pancreas, testis and spleen.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000148384 Expressed in 222 organ(s), highest expression level in secondary oocyte

CleanEx database of gene expression profiles

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CleanExi
HS_INPP5E

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9NRR6 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA065758

<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 (when prenylated) with PDE6D; this is important for normal location in cilia.1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
121159, 55 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9NRR6

Protein interaction database and analysis system

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IntActi
Q9NRR6, 3 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000360777

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1644
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9NRR6

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

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SMRi
Q9NRR6

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati10 – 1314
Repeati15 – 1824
Repeati28 – 3134
Repeati39 – 4244
Repeati55 – 5854
Repeati69 – 7163
Repeati72 – 7473
Repeati75 – 7884
Repeati121 – 12494
Repeati169 – 172104
Repeati183 – 185113
Repeati190 – 193124
Repeati236 – 239134

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>Regioni10 – 24213 X 4 AA repeats of P-X-X-PAdd BLAST233

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi92 – 97Poly-Arg6

<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

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0565 Eukaryota
COG5411 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000158199

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000231541

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG052132

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9NRR6

KEGG Orthology (KO)

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KOi
K20278

Identification of Orthologs from Complete Genome Data

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OMAi
DICPVSY

Database of Orthologous Groups

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OrthoDBi
EOG091G05DT

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9NRR6

TreeFam database of animal gene trees

More...
TreeFami
TF323475

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

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InterProi
View protein in InterPro
IPR036691 Endo/exonu/phosph_ase_sf
IPR005135 Endo/exonuclease/phosphatase
IPR000300 IPPc

Pfam protein domain database

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

Simple Modular Architecture Research Tool; a protein domain database

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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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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
Isoform 1 (identifier: Q9NRR6-1) [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
MPSKAENLRP SEPAPQPPEG RTLQGQLPGA PPAQRAGSPP DAPGSESPAL
60 70 80 90 100
ACSTPATPSG EDPPARAAPI APRPPARPRL ERALSLDDKG WRRRRFRGSQ
110 120 130 140 150
EDLEARNGTS PSRGSVQSEG PGAPAHSCSP PCLSTSLQEI PKSRGVLSSE
160 170 180 190 200
RGSPSSGGNP LSGVASSSPN LPHRDAAVAG SSPRLPSLLP PRPPPALSLD
210 220 230 240 250
IASDSLRTAN KVDSDLADYK LRAQPLLVRA HSSLGPGRPR SPLACDDCSL
260 270 280 290 300
RSAKSSFSLL APIRSKDVRS RSYLEGSLLA SGALLGADEL ARYFPDRNVA
310 320 330 340 350
LFVATWNMQG QKELPPSLDE FLLPAEADYA QDLYVIGVQE GCSDRREWET
360 370 380 390 400
RLQETLGPHY VLLSSAAHGV LYMSLFIRRD LIWFCSEVEC STVTTRIVSQ
410 420 430 440 450
IKTKGALGIS FTFFGTSFLF ITSHFTSGDG KVAERLLDYT RTVQALVLPR
460 470 480 490 500
NVPDTNPYRS SAADVTTRFD EVFWFGDFNF RLSGGRTVVD ALLCQGLVVD
510 520 530 540 550
VPALLQHDQL IREMRKGSIF KGFQEPDIHF LPSYKFDIGK DTYDSTSKQR
560 570 580 590 600
TPSYTDRVLY RSRHKGDICP VSYSSCPGIK TSDHRPVYGL FRVKVRPGRD
610 620 630 640
NIPLAAGKFD RELYLLGIKR RISKEIQRQQ ALQSQNSSTI CSVS
Length:644
Mass (Da):70,205
Last modified:November 4, 2008 - 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:i5B6CFB75CD0ADC9A
GO
Isoform 2 (identifier: Q9NRR6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     346-379: Missing.

Show »
Length:610
Mass (Da):66,193
Checksum:i093CCDE3EBB9DD9A
GO

<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 AAB03215 differs from that shown. Several sequencing problems.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 conflicti345R → T in AAF81404 (PubMed:10764818).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_047078201I → M. Corresponds to variant dbSNP:rs36064831EnsemblClinVar.1
Natural variantiVAR_077247286G → R in JBTS1. 1 PublicationCorresponds to variant dbSNP:rs757936530Ensembl.1
Natural variantiVAR_077248303V → M in JBTS1. 1 PublicationCorresponds to variant dbSNP:rs746212325EnsemblClinVar.1
Natural variantiVAR_077249345R → S in JBTS1. 1 Publication1
Natural variantiVAR_063012378R → C in JBTS1; slightly reduced activity. 1 PublicationCorresponds to variant dbSNP:rs121918130EnsemblClinVar.1
Natural variantiVAR_077250426T → N in JBTS1. 1 Publication1
Natural variantiVAR_063013435R → Q in JBTS1; severe reduction of activity. 2 PublicationsCorresponds to variant dbSNP:rs121918129EnsemblClinVar.1
Natural variantiVAR_077251474W → R in JBTS1; unknown pathological significance. 1 Publication1
Natural variantiVAR_063014512R → W in JBTS1; associated with W-515; severe reduction of activity. 1 PublicationCorresponds to variant dbSNP:rs374152018Ensembl.1
Natural variantiVAR_063015515R → W in JBTS1; associated with W-512; severe reduction of activity. 1 PublicationCorresponds to variant dbSNP:rs13297509EnsemblClinVar.1
Natural variantiVAR_077252534Y → D in JBTS1. 1 Publication1
Natural variantiVAR_063016563R → H in JBTS1; slightly reduced activity. 2 PublicationsCorresponds to variant dbSNP:rs121918128EnsemblClinVar.1
Natural variantiVAR_063017580K → E in JBTS1; severe reduction of activity. 1 Publication1
Natural variantiVAR_077253585R → C in JBTS1. 1 PublicationCorresponds to variant dbSNP:rs763992407Ensembl.1
Natural variantiVAR_076892621R → Q in JBTS1. 2 Publications1
Natural variantiVAR_077254641C → R in JBTS1. 1 Publication1

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_009799346 – 379Missing in isoform 2. 1 PublicationAdd BLAST34

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
AF187891 mRNA Translation: AAF81404.1
AL592301 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW88234.1
BC028032 mRNA Translation: AAH28032.1
U45974 mRNA Translation: AAB03215.1 Sequence problems.

The Consensus CDS (CCDS) project

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CCDSi
CCDS7000.1 [Q9NRR6-1]

NCBI Reference Sequences

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RefSeqi
NP_001305431.1, NM_001318502.1
NP_063945.2, NM_019892.5 [Q9NRR6-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.120998

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000371712; ENSP00000360777; ENSG00000148384 [Q9NRR6-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
56623

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:56623

UCSC genome browser

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UCSCi
uc004cho.4 human [Q9NRR6-1]

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
AF187891 mRNA Translation: AAF81404.1
AL592301 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW88234.1
BC028032 mRNA Translation: AAH28032.1
U45974 mRNA Translation: AAB03215.1 Sequence problems.
CCDSiCCDS7000.1 [Q9NRR6-1]
RefSeqiNP_001305431.1, NM_001318502.1
NP_063945.2, NM_019892.5 [Q9NRR6-1]
UniGeneiHs.120998

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2XSWX-ray1.90A/B275-623[»]
ProteinModelPortaliQ9NRR6
SMRiQ9NRR6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121159, 55 interactors
CORUMiQ9NRR6
IntActiQ9NRR6, 3 interactors
STRINGi9606.ENSP00000360777

Chemistry databases

SwissLipidsiSLP:000001180

PTM databases

DEPODiQ9NRR6
iPTMnetiQ9NRR6
PhosphoSitePlusiQ9NRR6

Polymorphism and mutation databases

BioMutaiINPP5E
DMDMi212276439

Proteomic databases

MaxQBiQ9NRR6
PaxDbiQ9NRR6
PeptideAtlasiQ9NRR6
PRIDEiQ9NRR6
ProteomicsDBi82414
82415 [Q9NRR6-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371712; ENSP00000360777; ENSG00000148384 [Q9NRR6-1]
GeneIDi56623
KEGGihsa:56623
UCSCiuc004cho.4 human [Q9NRR6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
56623
DisGeNETi56623
EuPathDBiHostDB:ENSG00000148384.11

GeneCards: human genes, protein and diseases

More...
GeneCardsi
INPP5E
GeneReviewsiINPP5E

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0125641
HGNCiHGNC:21474 INPP5E
HPAiHPA065758
MalaCardsiINPP5E
MIMi213300 phenotype
610156 phenotype
613037 gene
neXtProtiNX_Q9NRR6
OpenTargetsiENSG00000148384
Orphaneti475 Joubert syndrome
1454 Joubert syndrome with hepatic defect
220493 Joubert syndrome with ocular defect
75858 MORM syndrome
PharmGKBiPA164741785

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0565 Eukaryota
COG5411 LUCA
GeneTreeiENSGT00940000158199
HOGENOMiHOG000231541
HOVERGENiHBG052132
InParanoidiQ9NRR6
KOiK20278
OMAiDICPVSY
OrthoDBiEOG091G05DT
PhylomeDBiQ9NRR6
TreeFamiTF323475

Enzyme and pathway databases

BioCyciMetaCyc:HS09270-MONOMER
BRENDAi3.1.3.36 2681
ReactomeiR-HSA-1660514 Synthesis of PIPs at the Golgi membrane
R-HSA-5624958 ARL13B-mediated ciliary trafficking of INPP5E

Miscellaneous databases

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

More...
ChiTaRSi
INPP5E human

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

More...
GenomeRNAii
56623

Protein Ontology

More...
PROi
PR:Q9NRR6

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000148384 Expressed in 222 organ(s), highest expression level in secondary oocyte
CleanExiHS_INPP5E
GenevisibleiQ9NRR6 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
PfamiView protein in Pfam
PF03372 Exo_endo_phos, 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 nameiINP5E_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: Q9NRR6
Secondary accession number(s): Q15734, Q6PIV5
<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: March 29, 2004
Last sequence update: November 4, 2008
Last modified: December 5, 2018
This is version 146 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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