Recombinant Human INPP5E protein (ab163384)
- Datasheet
- References
- Protocols
Description
-
Product name
Recombinant Human INPP5E protein -
Expression system
Wheat germ -
Protein length
Full length protein -
Animal free
No -
Nature
Recombinant -
-
Species
Human -
Sequence
MPSKAENLRPSEPAPQPPEGRTLQGQLPGAPPAQRAGSPPDAPGSESPAL ACSTPATPSGEDPPARAAPIAPRPPARPRLERALSLDDKGWRRRRFRGSQ EDLEARNGTSPSRGSVQSEGPGAPAHSCSPPCLSTSLQEIPKSRGVLSSE RGSPSSGGNPLSGVASSSPNLPHRDAAVAGSSPRLPSLLPPRPPPALSLD IASDSLRTANKVDSDLADYKLRAQPLLVRAHSSLGPGRPRSPLACDDCSL RSAKSSFSLLAPIRSKDVRSRSYLEGSLLASGALLGADELARYFPDRNVA LFVATWNMQGQKELPPSLDEFLLPAEADYAQDLYVIGVQEGCSDRREWET RLQETLGPHYVLLSSAAHGVLYMSLFIRRDLIWFCSEVECSTVTTRIVSQ IKTKGALGISFTFFGTSFLFITSHFTSGDGKVAERLLDYTRTVQALVLPR NVPDTNPYRSSAADVTTRFDEVFWFGDFNFRLSGGRTVVDALLCQGLVVD VPALLQHDQLIREMRKGSIFKGFQEPDIHFLPSYKFDIGKDTYDSTSKQR TPSYTDRVLYRSRHKGDICPVSYSSCPGIKTSDHRPVYGLFRVKVRPGRD NIPLAAGKFDRELYLLGIKRRISKEIQRQQALQSQNSSTICSVS -
Amino acids
1 to 644 -
Tags
GST tag N-Terminus
-
Specifications
Our Abpromise guarantee covers the use of ab163384 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
-
Applications
Western blot
ELISA
-
Form
Liquid -
Additional notes
-
Concentration information loading...
Preparation and Storage
-
Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00
Constituents: 0.31% Glutathione, 0.79% Tris HCl
General Info
-
Alternative names
- 5-bisphosphate 5-phosphatase
- 72 kDa inositol polyphosphate 5-phosphatase
- Inositol polyphosphate 5 phosphatase
see all -
Function
Converts phosphatidylinositol 3,4,5-trisphosphate (PtdIns 3,4,5-P3) to PtdIns-P2. Specific for lipid substrates, inactive towards water soluble inositol phosphates. -
Tissue specificity
Detected in brain, heart, pancreas, testis and spleen. -
Involvement in disease
Defects in INPP5E are the cause of Joubert syndrome type 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.
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-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. -
Sequence similarities
Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type IV family. -
Post-translational
modificationsPhosphorylated upon DNA damage, probably by ATM or ATR. -
Cellular localization
Cytoplasm > cytoskeleton > cilium axoneme. Golgi apparatus > Golgi stack membrane. Peripheral membrane protein associated with Golgi stacks. - Information by UniProt
Images
-
SDS-PAGE - Recombinant Human INPP5E protein (ab163384)ab163384 on a 12.5% SDS-PAGE stained with Coomassie Blue.
Datasheets and documents
References
ab163384 has not yet been referenced specifically in any publications.
