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Aliases for INPP5E Gene

Aliases for INPP5E Gene

  • Inositol Polyphosphate-5-Phosphatase E 2 3 5
  • Phosphatidylinositol Polyphosphate 5-Phosphatase Type IV 3 4
  • Phosphatidylinositol-4,5-Bisphosphate 5-Phosphatase 3
  • Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase 4
  • Inositol Polyphosphate-5-Phosphatase, 72 KDa 2
  • Joubert Syndrome 1 2
  • EC 3.1.3.36 4
  • PPI5PIV 3
  • CORS1 3
  • MORMS 3
  • JBTS1 3
  • CPD4 3

External Ids for INPP5E Gene

Previous HGNC Symbols for INPP5E Gene

  • JBTS1

Previous GeneCards Identifiers for INPP5E Gene

  • GC09P130372
  • GC09P130994
  • GC09M132764
  • GC09M134680
  • GC09M136598
  • GC09M138442
  • GC09M139323
  • GC09M108782

Summaries for INPP5E Gene

Entrez Gene Summary for INPP5E Gene

  • The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

GeneCards Summary for INPP5E Gene

INPP5E (Inositol Polyphosphate-5-Phosphatase E) is a Protein Coding gene. Diseases associated with INPP5E include joubert syndrome 1 and mental retardation, truncal obesity, retinal dystrophy, and micropenis. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. GO annotations related to this gene include phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity and inositol-polyphosphate 5-phosphatase activity. An important paralog of this gene is INPP5J.

UniProtKB/Swiss-Prot for INPP5E Gene

  • 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.

Gene Wiki entry for INPP5E Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for INPP5E Gene

Genomics for INPP5E Gene

Regulatory Elements for INPP5E Gene

Promoters for INPP5E Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around INPP5E on UCSC Golden Path with GeneCards custom track

Genomic Location for INPP5E Gene

Chromosome:
9
Start:
136,428,615 bp from pter
End:
136,439,859 bp from pter
Size:
11,245 bases
Orientation:
Minus strand

Genomic View for INPP5E Gene

Genes around INPP5E on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
INPP5E Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for INPP5E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for INPP5E Gene

Proteins for INPP5E Gene

  • Protein details for INPP5E Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRR6-INP5E_HUMAN
    Recommended name:
    72 kDa inositol polyphosphate 5-phosphatase
    Protein Accession:
    Q9NRR6
    Secondary Accessions:
    • Q15734
    • Q6PIV5

    Protein attributes for INPP5E Gene

    Size:
    644 amino acids
    Molecular mass:
    70205 Da
    Quaternary structure:
    • Interacts (when prenylated) with PDE6D; this is important for normal location in cilia.
    SequenceCaution:
    • Sequence=AAB03215.1; Type=Miscellaneous discrepancy; Note=Several sequencing problems.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for INPP5E Gene

    Alternative splice isoforms for INPP5E Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for INPP5E Gene

Proteomics data for INPP5E Gene at MOPED

Post-translational modifications for INPP5E Gene

  • Ubiquitination at Lys 521
  • Modification sites at PhosphoSitePlus

Other Protein References for INPP5E Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for INPP5E

No data available for DME Specific Peptides for INPP5E Gene

Domains & Families for INPP5E Gene

Gene Families for INPP5E Gene

Protein Domains for INPP5E Gene

Suggested Antigen Peptide Sequences for INPP5E Gene

Graphical View of Domain Structure for InterPro Entry

Q9NRR6

UniProtKB/Swiss-Prot:

INP5E_HUMAN :
  • Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type IV family.
Family:
  • Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type IV family.
genes like me logo Genes that share domains with INPP5E: view

Function for INPP5E Gene

Molecular function for INPP5E Gene

UniProtKB/Swiss-Prot CatalyticActivity:
1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Active in the presence of octyl-glucoside or Triton X-100, but completely inhibited by CTAB.
UniProtKB/Swiss-Prot Function:
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.

Enzyme Numbers (IUBMB) for INPP5E Gene

genes like me logo Genes that share phenotypes with INPP5E: view

Human Phenotype Ontology for INPP5E Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for INPP5E Gene

MGI Knock Outs for INPP5E:

Animal Model Products

  • Taconic Biosciences Mouse Models for INPP5E

miRNA for INPP5E Gene

miRTarBase miRNAs that target INPP5E

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for INPP5E Gene

Localization for INPP5E Gene

Subcellular locations from UniProtKB/Swiss-Prot for INPP5E Gene

Cytoplasm, cytoskeleton, cilium axoneme. Golgi apparatus, Golgi stack membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, ruffle. Cytoplasm. Note=Peripheral membrane protein associated with Golgi stacks. {ECO:0000250 UniProtKB:Q9JII1}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for INPP5E Gene COMPARTMENTS Subcellular localization image for INPP5E gene
Compartment Confidence
cytosol 5
golgi apparatus 4
cytoskeleton 3
plasma membrane 3
nucleus 2

Gene Ontology (GO) - Cellular Components for INPP5E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005856 cytoskeleton IEA --
GO:0005930 axoneme IEA,IDA 19668215
genes like me logo Genes that share ontologies with INPP5E: view

Pathways & Interactions for INPP5E Gene

genes like me logo Genes that share pathways with INPP5E: view

Gene Ontology (GO) - Biological Process for INPP5E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006644 phospholipid metabolic process TAS --
GO:0010976 positive regulation of neuron projection development IEA --
GO:0046856 phosphatidylinositol dephosphorylation IEA --
genes like me logo Genes that share ontologies with INPP5E: view

No data available for SIGNOR curated interactions for INPP5E Gene

Drugs & Compounds for INPP5E Gene

(1) Drugs for INPP5E Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for INPP5E Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Phosphatidyl-D-myo-inositol
  • (3-Phosphatidyl)-1-D-inositol
  • 1,2-Diacyl-sn-glycero-3-phosphoinositol
  • 1-Phosphatidyl-1D-myo-inositol
  • 1-Phosphatidyl-myo-inositol
  • Phosphatidyl-1D-myo-inositol
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with INPP5E: view

Transcripts for INPP5E Gene

mRNA/cDNA for INPP5E Gene

Unigene Clusters for INPP5E Gene

Inositol polyphosphate-5-phosphatase, 72 kDa:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for INPP5E Gene

No ASD Table

Relevant External Links for INPP5E Gene

GeneLoc Exon Structure for
INPP5E
ECgene alternative splicing isoforms for
INPP5E

Expression for INPP5E Gene

mRNA expression in normal human tissues for INPP5E Gene

SOURCE GeneReport for Unigene cluster for INPP5E Gene Hs.120998

mRNA Expression by UniProt/SwissProt for INPP5E Gene

Q9NRR6-INP5E_HUMAN
Tissue specificity: Detected in brain, heart, pancreas, testis and spleen.
genes like me logo Genes that share expression patterns with INPP5E: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for INPP5E Gene

Orthologs for INPP5E Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for INPP5E Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia INPP5E 35
  • 99.22 (n)
  • 99.53 (a)
INPP5E 36
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia INPP5E 36
  • 75 (a)
OneToOne
INPP5E 35
  • 80.03 (n)
  • 76.29 (a)
dog
(Canis familiaris)
Mammalia INPP5E 35
  • 78.42 (n)
  • 76.61 (a)
INPP5E 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Inpp5e 16
Inpp5e 35
  • 78.41 (n)
  • 78.3 (a)
Inpp5e 36
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia INPP5E 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia INPP5E 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Inpp5e 35
  • 77.5 (n)
  • 77.29 (a)
chicken
(Gallus gallus)
Aves INPP5E 36
  • 60 (a)
OneToOne
INPP5E 35
  • 67.02 (n)
  • 67.91 (a)
lizard
(Anolis carolinensis)
Reptilia INPP5E 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia inpp5e 35
  • 63.14 (n)
  • 64.27 (a)
Str.12903 35
zebrafish
(Danio rerio)
Actinopterygii inpp5e 36
  • 55 (a)
OneToOne
inpp5e 35
  • 65.45 (n)
  • 66.51 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8728 37
  • 54 (a)
CG10426 36
  • 29 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T25B9.10 36
  • 21 (a)
OneToOne
Y71G12B.24 37
  • 40 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes INP51 36
  • 12 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
OneToOne
Species with no ortholog for INPP5E:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for INPP5E Gene

ENSEMBL:
Gene Tree for INPP5E (if available)
TreeFam:
Gene Tree for INPP5E (if available)

Paralogs for INPP5E Gene

Paralogs for INPP5E Gene

genes like me logo Genes that share paralogs with INPP5E: view

Variants for INPP5E Gene

Sequence variations from dbSNP and Humsavar for INPP5E Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs36064831 - 136,438,817(+) GAGGC(C/G)ATGTC nc-transcript-variant, reference, missense
VAR_063012 Joubert syndrome 1 (JBTS1)
VAR_063013 Joubert syndrome 1 (JBTS1)
VAR_063014 Joubert syndrome 1 (JBTS1)
VAR_063015 Joubert syndrome 1 (JBTS1)

Structural Variations from Database of Genomic Variants (DGV) for INPP5E Gene

Variant ID Type Subtype PubMed ID
nsv825173 CNV Gain 20364138
nsv894294 CNV Loss 21882294
dgv8383n71 CNV Loss 21882294
dgv8385n71 CNV Loss 21882294
dgv8386n71 CNV Loss 21882294
dgv8390n71 CNV Loss 21882294
dgv8392n71 CNV Loss 21882294
nsv509333 CNV Insertion 20534489
nsv482928 CNV Loss 15286789
dgv2426e1 CNV Complex 17122850
nsv469918 CNV Loss 18288195
dgv8394n71 CNV Loss 21882294
nsv831760 CNV Loss 17160897
nsv894365 CNV Loss 21882294
nsv894367 CNV Loss 21882294
nsv6766 CNV Insertion 18451855
dgv8395n71 CNV Loss 21882294
dgv8396n71 CNV Loss 21882294
esv2426973 CNV Deletion 19546169
esv28108 CNV Gain+Loss 19812545
esv1287350 CNV Deletion 17803354
esv1420798 CNV Deletion 17803354

Variation tolerance for INPP5E Gene

Residual Variation Intolerance Score: 57.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.25; 40.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for INPP5E Gene

HapMap Linkage Disequilibrium report
INPP5E
Human Gene Mutation Database (HGMD)
INPP5E

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INPP5E Gene

Disorders for INPP5E Gene

MalaCards: The human disease database

(16) MalaCards diseases for INPP5E Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
joubert syndrome 1
  • joubert syndrome
mental retardation, truncal obesity, retinal dystrophy, and micropenis
  • morm syndrome
joubert syndrome with ocular anomalies
  • jbts3
coach syndrome
  • cerebellar vermis hypo/aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis
inpp5e-related joubert syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

INP5E_HUMAN
  • Joubert syndrome 1 (JBTS1) [MIM:213300]: A 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. {ECO:0000269 PubMed:19668216}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORMS) [MIM:610156]: An 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. {ECO:0000269 PubMed:19668215}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for INPP5E

Human Genome Epidemiology (HuGE) Navigator
INPP5E
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
INPP5E
genes like me logo Genes that share disorders with INPP5E: view

No data available for Genatlas for INPP5E Gene

Publications for INPP5E Gene

  1. Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. (PMID: 19668216) Bielas S.L. … Gleeson J.G. (Nat. Genet. 2009) 2 3 4 23 67
  2. The isolation and characterization of a cDNA encoding phospholipid- specific inositol polyphosphate 5-phosphatase. (PMID: 10764818) Kisseleva M.V. … Majerus P.W. (J. Biol. Chem. 2000) 2 3
  3. Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity. (PMID: 10577920) Saar K. … Bayoumi R. (Am. J. Hum. Genet. 1999) 2 3
  4. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. (PMID: 23386033) Travaglini L. … Valente E.M. (Eur. J. Hum. Genet. 2013) 3
  5. A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. (PMID: 24166846) Thomas S. … AttiAc-Bitach T. (Hum. Mutat. 2013) 3

Products for INPP5E Gene

Sources for INPP5E Gene

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