- Datasheet
- Specific References
- Protocols
Overview
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Product nameRecombinant Human INPP5E protein
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Protein lengthFull length protein
Description
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NatureRecombinant
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SourceWheat germ
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Amino Acid Sequence
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SpeciesHuman
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SequenceMPSKAENLRPSEPAPQPPEGRTLQGQLPGAPPAQRAGSPPDAPGSESPAL ACSTPATPSGEDPPARAAPIAPRPPARPRLERALSLDDKGWRRRRFRGSQ EDLEARNGTSPSRGSVQSEGPGAPAHSCSPPCLSTSLQEIPKSRGVLSSE RGSPSSGGNPLSGVASSSPNLPHRDAAVAGSSPRLPSLLPPRPPPALSLD IASDSLRTANKVDSDLADYKLRAQPLLVRAHSSLGPGRPRSPLACDDCSL RSAKSSFSLLAPIRSKDVRSRSYLEGSLLASGALLGADELARYFPDRNVA LFVATWNMQGQKELPPSLDEFLLPAEADYAQDLYVIGVQEGCSDRREWET RLQETLGPHYVLLSSAAHGVLYMSLFIRRDLIWFCSEVECSTVTTRIVSQ IKTKGALGISFTFFGTSFLFITSHFTSGDGKVAERLLDYTRTVQALVLPR NVPDTNPYRSSAADVTTRFDEVFWFGDFNFRLSGGRTVVDALLCQGLVVD VPALLQHDQLIREMRKGSIFKGFQEPDIHFLPSYKFDIGKDTYDSTSKQR TPSYTDRVLYRSRHKGDICPVSYSSCPGIKTSDHRPVYGLFRVKVRPGRD NIPLAAGKFDRELYLLGIKRRISKEIQRQQALQSQNSSTICSVS
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Amino acids1 to 644
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Tagsproprietary tag N-Terminus
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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.
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Applications
Western blot
ELISA
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FormLiquid
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Additional notesProtein concentration is above or equal to 0.05 mg/ml.
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Concentration information loading...
Preparation and Storage
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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
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Alternative names
- 5-bisphosphate 5-phosphatase
- 72 kDa inositol polyphosphate 5-phosphatase
- Inositol polyphosphate 5 phosphatase
see all -
FunctionConverts phosphatidylinositol 3,4,5-trisphosphate (PtdIns 3,4,5-P3) to PtdIns-P2. Specific for lipid substrates, inactive towards water soluble inositol phosphates.
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Tissue specificityDetected in brain, heart, pancreas, testis and spleen.
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Involvement in diseaseDefects 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 similaritiesBelongs to the inositol 1,4,5-trisphosphate 5-phosphatase type IV family.
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Post-translational
modificationsPhosphorylated upon DNA damage, probably by ATM or ATR. -
Cellular localizationCytoplasm > cytoskeleton > cilium axoneme. Golgi apparatus > Golgi stack membrane. Peripheral membrane protein associated with Golgi stacks.
- Information by UniProt
Images
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SDS-PAGE - Recombinant Human INPP5E protein (ab163384)ab163384 on a 12.5% SDS-PAGE stained with Coomassie Blue.
References
ab163384 has not yet been referenced specifically in any publications.
Customer reviews and Q&As
Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"