INPP5E Gene
protein-coding GIFtS: 57
GCID: GC09M139323
|
|
inositol polyphosphate-5-phosphatase, 72 kDa(Previous name: Joubert syndrome 1 )
(Previous symbol: JBTS1)
| |
Aliases
for INPP5E gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Inositol Polyphosphate-5-Phosphatase, 72 KDa1 2 | | Joubert Syndrome 11 | | CORS11 2 5 | | 72 KDa Inositol Polyphosphate 5-Phosphatase2 | | JBTS11 2 5 | | CPD42 | | PPI5PIV1 2 | | Phosphatidylinositol (4,5) Bisphosphate 5-Phosphatase2 | | Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase2 3 | | Phosphatidylinositol-4,5-Bisphosphate 5-Phosphatase2 | | Phosphatidylinositol Polyphosphate 5-Phosphatase Type IV2 3 | | EC 3.1.3.363 | | MORMS2 5 | | |
Export aliases for INPP5E gene to outside databasesPrevious GC identifers: GC09P130372 GC09P130994 GC09M132764 GC09M134680 GC09M136598 GC09M138442 GC09M108782 |
Summaries
for INPP5E gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for INPP5E:
The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphataseshydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responsesto various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulateGolgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenousgroup of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that includeretinal dystrophy, nephronophthisis, liver fibrosis and polydactyly.(provided by RefSeq, Feb 2011)
UniProtKB/Swiss-Prot: INP5E_HUMAN, Q9NRR6Function: Converts phosphatidylinositol 3,4,5-trisphosphate (PtdIns 3,4,5-P3) to PtdIns-P2. Specific for lipidsubstrates, inactive towards water soluble inositol phosphates
Gene Wiki entry for INPP5E
|
Genomic Views
for INPP5E gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000009.11 NC_018920.1 NT_024000.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the INPP5E gene promoter:
GR HTF GR-beta Max AREB6 FOXJ2 (long isoform) c-Myb FOXJ2 GR-alpha c-Myc
Other transcription factors
Search SABiosciences Chromatin IP Primers for INPP5E
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat INPP5E |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 9q34.3 Ensembl cytogenetic band: 9q34.3 HGNC cytogenetic band: 9q34.3INPP5E Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 9 GeneLoc Exon Structure GeneLoc location for GC09M139323: view genomic region
(about GC identifiers)
Start:
|
139,323,071 bp from pter |
End:
|
139,334,274 bp from pter |
Size:
|
11,204 bases |
Orientation:
|
minus strand |
|
Proteins
for INPP5E gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: INP5E_HUMAN, Q9NRR6 (See
protein sequence)Recommended Name: 72 kDa inositol polyphosphate 5-phosphatase Size: 644 amino acids; 70205 Da
Subcellular location: Cytoplasm, cytoskeleton, cilium axoneme. Golgi apparatus, Golgi stack membrane; Peripheralmembrane protein; Cytoplasmic side (By similarity). Note=Peripheral membrane protein associated with Golgi stacks (Bysimilarity)
Sequence caution: Sequence=AAB03215.1; Type=Miscellaneous discrepancy; Note=Several sequencing problems;
1 PDB 3D structure from  and Proteopedia  for INPP5E:2XSW (3D)
Secondary accessions: Q15734 Q6PIV5Alternative splicing: 2 isoforms: Q9NRR6-1 Q9NRR6-2 Explore the universe of human proteins at neXtProt for INPP5E: NX_Q9NRR6
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9NRR6
INPP5E Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_063945.2
ENSEMBL proteins: ENSP00000360777 Reactome Protein details: Q9NRR6
Human Recombinant Protein Products:
Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table
INPP5E for ontologies About GeneDecksing
INPP5E Antibody Products:
Assay Products for INPP5E: |
Protein
Domains /
Families
for INPP5E gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
INPP5E for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9NRR6ProtoNet protein and cluster: Q9NRR6 1 Blocks protein family: IPB000300 Inositol polyphosphate related phosphatase family
UniProtKB/Swiss-Prot: INP5E_HUMAN, Q9NRR6Similarity: Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type IV family |
Function
for INPP5E gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: INP5E_HUMAN, Q9NRR6Function: Converts phosphatidylinositol 3,4,5-trisphosphate (PtdIns 3,4,5-P3) to PtdIns-P2. Specific for lipidsubstrates, inactive towards water soluble inositol phosphatesCatalytic activity: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol4-phosphate + phosphateEnzyme regulation: Active in the presence of octyl-glucoside or Triton X-100, but completely inhibited by CTABEnzyme Number (IUBMB): EC 3.1.3.361
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for INPP5E (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for INPP5E
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: INPP5E (NM_019892) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for INPP5E | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat INPP5E |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INPP5E |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004439 | phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity |
IEA | -- | | GO:0004445 | inositol-polyphosphate 5-phosphatase activity |
TAS | 10764818 |
INPP5E for ontologies About GeneDecksing
5 GenomeRNAi human phenotypes for INPP5E:
Animal Models:
Mouse knock-out Inpp5etm1.2Ssch for INPP5E
12 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Inpp5e):
INPP5E for phenotypes About GeneDecksing
|
Pathways & Interactions
for INPP5E gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Metabolism | | | 2 | Inositol phosphate metabolism | | | 3 | PI Metabolism | | | 4 | Glycerophospholipid biosynthesis | | | 5 | D-myo-inositol (1,3,4)-trisphosphate biosynthesis | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1  BioSystems Pathway for INPP5E
5 
Reactome Pathways for INPP5E
3 
Kegg Pathways (Kegg details for INPP5E):
INPP5E for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for INPP5E
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/42 Interacting proteins for INPP5E (Q9NRR63 ENSP000003607774) via UniProtKB, MINT, STRING, and/or I2D (see all 42)About this table
Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006644 | phospholipid metabolic process |
TAS | -- | | GO:0006661 | phosphatidylinositol biosynthetic process |
TAS | -- | | GO:0008150 | biological_process |
ND | -- | | GO:0010976 | positive regulation of neuron projection development |
-- | -- | | GO:0044281 | small molecule metabolic process |
TAS | -- |
INPP5E for ontologies About GeneDecksing
|
Drugs & Compounds
for INPP5E gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
INPP5E for compounds About GeneDecksing
 Browse Tocris compounds for INPP5E
3 HMDB Compounds for INPP5E About this table
2 Novoseek chemical compound relationships for INPP5E gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| phosphatidylinositol-3,4,5-trisphosphate |
72.4 |
1 |
12536145 (1) |
| inositol |
56.2 |
4 |
19668216 (2), 12536145 (1), 16213748 (1) |
Search CenterWatch for drugs/clinical trials and news about INPP5E / INP5E
|
Transcripts
for INPP5E gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for INPP5E gene: NM_019892.4 Unigene Cluster for INPP5E: Inositol polyphosphate-5-phosphatase, 72 kDa Hs.120998 [show with all ESTs]Unigene Representative Sequence: BC0280321 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000371712(uc004cho.3 uc010nbm.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for INPP5E (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for INPP5E
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: INPP5E (NM_019892) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for INPP5E | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat INPP5E |
Additional cDNA sequence: AF187891.1 AL832846.1 BC028032.1 BC109224.1 BC110356.1 U45974.1 7 DOTS entries: DT.97839981 DT.413151 DT.40307023 DT.91874150 DT.92420423 DT.95083310 DT.100749719 24/88 AceView cDNA sequences (see all 88): AA301362 NM_019892 BQ188130 BQ549922 BM766952 AI933447 AA988145 AA916807 AI274971 AL047752 F12413 BC028032 AF187891 AI634324 AW204930 CA392343 BQ185305 BF197797 BQ614142 BE326482 BQ022306 BI521436 BG533779 BF205976
GeneLoc Exon Structure
|
Expression
for INPP5E gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| INPP5E expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See INPP5E Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for INPP5E
SOURCE GeneReport for Unigene cluster: Hs.120998
UniProtKB/Swiss-Prot: INP5E_HUMAN, Q9NRR6Tissue specificity: Detected in brain, heart, pancreas, testis and spleen
SABiosciences Custom PCR Arrays for INPP5E
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for INPP5E
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat INPP5E | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat INPP5E | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat INPP5E | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INPP5E |
Orthologs
for INPP5E gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for INPP5E gene from 9/23 species (see all 23) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Inpp5e1 , 5 |
inositol polyphosphate-5-phosphatase E1, 5 |
77.93(n)1
77.26(a)1 |
|
2 (18.88 cM)5
644361 NM_033134.21 NP_149125.11
263962495 |
chicken
(Gallus gallus) |
Aves |
INPP5E1 |
inositol polyphosphate-5-phosphatase, 72 kDa |
66.9(n)
67.94(a) |
|
417135 XM_415418.3 XP_415418.2 |
lizard
(Anolis carolinensis) |
Reptilia |
INPP5E6 |
-- |
65(a) |
1 ↔ 1 |
GL344440.1(16413-30873) |
tropical clawed frog
(Xenopus tropicalis) |
Amphibia |
Str.129032 |
Transcribed sequence with weak similarity to protein more |
74.24(n) |
|
BX720521.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
inpp5e1 |
inositol polyphosphate-5-phosphatase |
60.17(n)
58.86(a) |
|
606579 NM_001102619.2 NP_001096089.2 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG87283 |
mitochondrial processing peptidase |
54(a) |
|
43F3 -- |
worm
(Caenorhabditis elegans) |
Secernentea |
Y71G12B.243 |
-- |
40(a) |
|
I(1740764-1750945) -- |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT5PTASE116 |
Type I inositol-1,4,5-trisphosphate 5-phosphatase ... |
24(a) |
1 ↔ 1 |
1(17435565-17438396) |
rice
(Oryza sativa) |
Liliopsida |
-- |
endonuclease/exonuclease/phosphatase family domain... |
26(a) |
1 ↔ 1 |
3(23848144-23850362) |
ENSEMBL Gene Tree for INPP5E (if available)
TreeFam Gene Tree for INPP5E (if available) |
Paralogs
for INPP5E gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for INPP5E gene
- INPP5B2 INPP5J2 SYNJ12 INPP5D2 OCRL2 INPP5K2 INPPL12 SYNJ22
INPP5E for paralogs About GeneDecksing
|
Genomic Variants
for INPP5E gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 9 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for INPP5E (139323071 - 139334274 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 8 variations for INPP5E
6 CNVs: 3785 30350 30354 100808 30355 0133
2 Indels: 29093 70835
Human Gene Mutation Database (HGMD): INPP5E
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing INPP5E |
|
Disorders
/ Diseases
for INPP5E gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
INPP5E for disorders About GeneDecksing
OMIM gene information: 613037
OMIM disorders: 610156 213300
UniProtKB/Swiss-Prot: INP5E_HUMAN, Q9NRR6
Defects in INPP5E are the cause of Joubert syndrome type 1 (JBTS1) [MIM:213300]. A disorder presenting withcerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay.Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superiorcerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth ontransaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease Defects in INPP5E are the cause of mental retardation-truncal obesity-retinal dystrophy-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-Biedlsyndrome and Cohen syndrome Distinguishing features are the age of onset, the non-progressive nature of the visualimpairment, lack of dysmorphic facies, skin or gingival infection, microcephaly, mottled retina, polydactyly, andtesticular anomalies
20/26  diseases for INPP5E (see all 26): About MalaCardsjoubert syndrome nephronophthisis polydactyly oculomotor apraxia
bardet-biedl syndrome retinitis micropenis liver fibrosis
non-hodgkin lymphoma apraxia cohen syndrome fundus dystrophy
oculocerebrorenal syndrome dent disease hodgkin's lymphoma fibrosis
cerebellar ataxia glanders fanconi syndrome protein s deficiency
4 diseases from the University of Copenhagen DISEASES database for INPP5E:Nephronophthisis Apraxia DOID:4019 Fundus dystrophy 1 Novoseek disease relationship for INPP5E gene About this table
GeneTests: INPP5E
Joubert Syndrome
Human Genome Epidemiology (HuGE) Navigator: INPP5E (2 documents)
Export disorders for INPP5E gene to outside databases
|
Publications
for INPP5E gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for INPP5E gene, integrated from 9 sources (see all 30):
(articles sorted by number of sources associating them with INPP5E) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. (PubMed id 19668216)1, 2, 3, 9 Bielas S.L....Gleeson J.G. (2009)
- The isolation and characterization of a cDNA encoding phospholipid- specific inositol polyphosphate 5-phosphatase. (PubMed id 10764818)1, 2, 3 Kisseleva M.V.... Majerus P.W. (2000)
- INPP5E mutations cause primary cilium signaling defec ts, ciliary instability and ciliopathies in human and mouse. (PubMed id 19668215)1, 2 Jacoby M....Schurmans S. (2009)
- Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity. (PubMed id 10577920)1, 3 Saar K....Bayoumi R. (1999)
- ARL13B, PDE6D, and CEP164 form a functional network fo r INPP5E ciliary targeting. (PubMed id 23150559)1 Humbert M.C....Seo S. (2012)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- Assembly and replication of HIV-1 in T cells with low levels of phosphatidylinositol-(4,5)-bisphosphate. (PubMed id 21270152)1 Monde K....Ono A. (2011)
- Gag localization and virus-like particle release media ted by the matrix domain of human T-lymphotropic virus type 1 Gag are less depen dent on phosphatidylinositol-(4,5)-bisphosphate than those mediated by the matri x domain of HIV-1 Gag. (PubMed id 21289126)1 Inlora J....Ono A. (2011)
- Meta-analysis identifies 29 additional ulcerative col itis risk loci, increasing the number of confirmed associations to 47. (PubMed id 21297633)1 Anderson C.A....Rioux J.D. (2011)
- Mutation analysis of 18 nephronophthisis associated c iliopathy disease genes using a DNA pooling and next generation sequencing stra tegy. (PubMed id 21068128)1 Otto E.A....Hildebrandt F. (2010)
|
External Searches for INPP5E gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing INPP5E gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing INPP5E gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing INPP5E gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for INPP5E | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for INPP5E gene:
Search GeneIP for patents involving INPP5E
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for INPP5E gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for INPP5E | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for INPP5E | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for INPP5E | | | OriGene Protein Over-expression Lysate for INPP5E | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for INPP5E | | OriGene 3'-UTR Clone for INPP5E | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for INPP5E | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for INPP5E | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for INPP5E | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for INPP5E | | OriGene Custom Protein Services for INPP5E | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat INPP5E | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing INPP5E | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat INPP5E | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat INPP5E | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat INPP5E | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat INPP5E |
| |
 |  |  |  | |
| | | | Search Tocris compounds for INPP5E |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | INPP5E Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INPP5E |
|  |  |  | | | | Search ThermoFisher Antibodies for INPP5E |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat INPP5E |
|
|
|
|
