INPP5E (NM_019892) Human Recombinant Protein

• Background:

  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]

• Synonyms:

  CORS1; CPD4; JBTS1; MORMS; pharbin; PPI5PIV

• Gene ID:

  56623

• UniProt:

  Q9NRR6

• Accession Number mRNA:

  NM_019892

• Chromosomal Location:

  9q34.3

• Expression System:

  HEK293T

• Tag:

  C-Myc/DDK

• Related Pathways:

  Inositol phosphate metabolism, Metabolic pathways, Phosphatidylinositol signaling system

• Field of Research:

  Inositol phosphate metabolism, Metabolic pathways, Phosphatidylinositol signaling system

• Concentration:

  >50 ug/mL as determined by microplate BCA method

• Purity:

  > 80% as determined by SDS-PAGE and Coomassie blue staining

• Form:

  Liquid

• Buffer:

  25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol

• Function:

  Druggable Genome

• Molecular Weight:

  70 kDa

• Storage Conditions:

  Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.

• Symbol:

  INPP5E

• Species:

  Human

• Protein ID:

  NP_063945

• Overview:

  Recombinant protein of human inositol polyphosphate-5-phosphatase, 72 kDa (INPP5E)

• Gene ID URL:

  https://www.ncbi.nlm.nih.gov/gene/56623

• Uniprot URL:

  https://www.uniprot.org/uniprot/Q9NRR6

• Accession Number mRNA URL:

  https://www.ncbi.nlm.nih.gov/nuccore/NM_019892

• Protein ID Link:

  https://www.ncbi.nlm.nih.gov/nuccore/NP_063945