Recombinant Human INPP5K Protein, GST-tagged

• Cat.No.: INPP5K-5104H
• Product Overview: Human INPP5K full-length ORF ( AAH04362, 1 a.a. - 448 a.a.) recombinant protein with GST-tag at N-terminal.

Specification

• Description: This gene encodes a protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may negatively regulate the actin cytoskeleton. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq
• Source: Wheat Germ
• Species: Human
• Tag: GST
• Molecular Mass: 74.8 kDa
• AA Sequence: MSSRKLSGPKGRRLSIHVVTWNVAS AAPPLDLSDLLQLNNRNLNPDIYVI GLQELNSGIISLLSDAAFNDSWSSF LMDVLSPLSFIKVSHVRMQGILLLV FAKYQHLPYIQILSTKSTPTGLFGY WGNKGGVNICLKLYGYYVSIINCHL PPHISNNYQRLEHFDRILEMQNCEG RDIPNILDHDLIIWFGDMNFRIEDF GLRFVRESIKNRCYGGLWEKDQLSI AKKHDPLLREFQEGRLLFPPTYKFD RNSNDYDTSEKKRKPAWTDRILWRL KRQPCAGPDTPIPPASHFSLSLRGY SSHMTYGISDHKPVSGTFDLELKPL VSAPLIVLMPEDLWTVENDMMVSYS STSDFPSSPWDWIGLYKVGLRDVND YVSYAWVGDSKVSCSDNLNQVYIDI SNIPTTEDEFLLCYYSNSLRSVVGI SRPFQIPPGSLREDPLGEAQPQI
• Applications: Enzyme-linked Immunoabsorbent Assay
  Western Blot (Recombinant protein)
  Antibody Production
  Protein Array
• Notes: Best use within three months from the date of receipt of this protein.
• Storage: Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

Gene Information

• Gene Name: INPP5K inositol polyphosphate-5-phosphatase K [ Homo sapiens ]
• Official Symbol: INPP5K
• Synonyms: INPP5K; inositol polyphosphate-5-phosphatase K; inositol polyphosphate 5-phosphatase K; skeletal muscle and kidney enriched inositol phosphatase; SKIP; skeletal muscle and kidney-enriched inositol phosphatase; PPS
• Gene ID: 51763
• mRNA Refseq: NM_001135642
• Protein Refseq: NP_001129114
• MIM: 607875
• UniProt ID: Q9BT40

Reviews

04/06/2022

We observed minimal changes in results even after prolonged storage, showcasing its long-term stability.

10/28/2019

Its reliability over time reduced the need for frequent reordering, saving both time and resources.

04/01/2017

The absence of adverse effects on cells or organisms underscored the product's safety and suitability for biological research.

Q&As

What is the clinical significance of d-3-PHGDH alterations?

Mutations in d-3-PHGDH have been associated with a neurological phenotype that overlaps with Marinesco-Sjögren syndrome and INPP5K disease.

What potential therapeutic strategy is mentioned for patients with d-3-PHGDH mutations?

l-serine administration is proposed as a promising therapeutic strategy for patients with d-3-PHGDH mutations.

What does this study reveal about the three rare diseases under investigation?

This study reveals a common core phenotypical feature and a shared molecular mechanism among Marinesco-Sjögren syndrome, INPP5K disease, and d-3-PHGDH mutations.

What common molecular feature was identified in both Marinesco-Sjögren syndrome and INPP5K patients?

Alterations in d-3-PHGDH, an enzyme that modulates the production of l-serine, were identified as a common molecular feature.

How many new INPP5K patients were included in this study?

Six new INPP5K patients were included in this study.

How was the effect of l-serine tested in this study?

The effect of l-serine was tested in zebrafish models with mutations in sil1, phgdh, and inpp5k a+b genes, which improved their neuronal phenotype.

What disorders are associated with INPP5K mutations?

INPP5K mutations are associated with a rare disorder that shares symptoms with Marinesco-Sjögren syndrome, such as cataracts, myopathy, and ataxia.