product summary
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company name :
MyBioSource
product type :
antibody
product name :
INPP5E Rabbit Polyclonal
catalog :
MBS7600562
quantity :
0.1 mg
price :
265 USD
clonality :
polyclonal
host :
rabbit
conjugate :
nonconjugated
reactivity :
human, mouse, rat
application :
western blot, ELISA, immunohistochemistry, immunocytochemistry, immunoprecipitation, enzyme immunoassay
more info or order :
image
image 1 :
MyBioSource MBS7600562 image 1
Immunohistochemistry of paraffin-embedded human testis using MBS7600562 (INPP5E antibody) at dilution of 1:50
image 2 :
MyBioSource MBS7600562 image 2
SH-SY5Y cells were subjected to SDS PAGE followed by western blot with MBS7600562 (INPP5E antibody) at dilution of 1:1000
product information
catalog number :
MBS7600562
products type :
Antibody
products full name :
INPP5E Rabbit Polyclonal
products short name :
[INPP5E]
products name syn :
[INPP5E, PPI5PIV]
other names :
[INPP5E protein; 72 kDa inositol polyphosphate 5-phosphatase; 72 kDa inositol polyphosphate 5-phosphatase; inositol polyphosphate-5-phosphatase E; Phosphatidylinositol 4,5-bisphosphate 5-phosphatase; Phosphatidylinositol polyphosphate 5-phosphatase type IV]
products gene name :
[INPP5E]
other gene names :
[INPP5E; INPP5E; CPD4; CORS1; JBTS1; MORMS; PPI5PIV]
uniprot entry name :
INP5E_HUMAN
clonality :
Polyclonal
isotype :
IgG
host :
Rabbit
reactivity :
Human, Mouse, Rat
sequence length :
271
specificity :
Other species are not tested. Please decide the specificity by homology.
purity :
>=95% as determined by SDS-PAGE. Immunogen Affinity Purified
form :
Liquid; PBS with 0.02% sodium azide and 50% glycerol pH 7.3
storage stability :
-20 degree C for 24 months (Avoid repeated freeze / thaw cycles.)
tested application :
ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC), Immunofluorescence (IF), Immunoprecipitation (IP)
app notes :
WB: 1:500-1:2000. IP: 1:500-1:2000. IHC: 1:20-1:200. IF: 1:20-1:200
image1 heading :
Immunohistochemistry
image2 heading :
SDS-PAGE
other info1 :
Immunogen: Inositol polyphosphate-5-phosphatase, 72 kDa
products description :
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
ncbi gi num :
82571456
ncbi acc num :
AAI10357.1
ncbi mol weight :
64-66 kDa
ncbi pathways :
3-phosphoinositide Degradation Pathway (545349); 3-phosphoinositide Degradation Pathway (139488); ARL13B-mediated Ciliary Trafficking Of INPP5E Pathway (1268852); Assembly Of The Primary Cilium Pathway (1268846); Cargo Trafficking To The Periciliary Membrane Pathway (1268848); Metabolism Pathway (1269956); Metabolism Of Lipids And Lipoproteins Pathway (1270001); Organelle Biogenesis And Maintenance Pathway (1268838); PI Metabolism Pathway (1270073); Phospholipid Metabolism Pathway (1270053)
ncbi summary :
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]
uniprot summary :
INPP5E: Converts phosphatidylinositol 3,4,5-trisphosphate (PtdIns 3,4,5-P3) to PtdIns-P2. Specific for lipid substrates, inactive towards water soluble inositol phosphates. Defects in INPP5E are the cause of Joubert syndrome type 1 (JBTS1). 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. Defects in INPP5E are the cause of mental retardation- truncal obesity-retinal dystrophy-micropenis (MORMS). 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. Belongs to the inositol 1,4,5-trisphosphate 5- phosphatase type IV family. 2 isoforms of the human protein are produced by alternative splicing. Protein type: Carbohydrate Metabolism - inositol phosphate; Phosphatase (non-protein); EC 3.1.3.36. Chromosomal Location of Human Ortholog: 9q34.3. Cellular Component: axoneme; cytoskeleton; cytosol; plasma membrane; ruffle. Molecular Function: inositol-polyphosphate 5-phosphatase activity; phosphoinositide 5-phosphatase activity. Biological Process: inositol phosphate dephosphorylation; phosphatidylinositol biosynthetic process; phosphoinositide dephosphorylation. Disease: Joubert Syndrome 1; Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
size1 :
0.1 mg
price1 :
265 USD
more info or order :
company information
MyBioSource
P.O. Box 153308
San Diego, CA 92195-3308
sales@mybiosource.com
https://www.mybiosource.com
1-888-627-0165
headquarters: USA
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