Anti-PIP5K1C monoclonal antibody (DCABH-182)

Rabbit anti-Mouse PIP5K1C monoclonal antibody for WB, IP Datasheet

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Specifications


Host Species
Rabbit
Antibody Isotype
IgG
Clone
NBP-S2
Species Reactivity
Mouse, Rat, Human
Immunogen
Recombinant full length Mouse PIP5KI gamma.
Conjugate
Unconjugated

Applications


Application Notes
WB: 1/1000 - 1/10000; IP: 1/10 - 1/100;
*Suggested working dilutions are given as a guide only. It is recommended that the user titrates the product for use in their own experiment using appropriate negative and positive controls.

Target


Alternative Names
PIP5K1C; phosphatidylinositol-4-phosphate 5-kinase, type 1 gamma; phosphatidylinositol-4-phosphate 5-kinase type-1 gamma; PIP5K1-gamma; ptdIns(4)P-5-kinase 1 gamma; phosphatidylinositol-4-phosphate 5-kinase type I gamma
Entrez Gene ID
UniProt ID

Product Background


Gene summary
PIP5K1C (Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Gamma) is a Protein Coding gene. Diseases associated with PIP5K1C include lethal congenital contractural syndrome 3 and lethal congenital contracture syndrome. Among its related pathways are Signaling by GPCR and Metabolism. GO annotations related to this gene include phosphatidylinositol phosphate kinase activity and talin binding. An important paralog of this gene is PIP4K2B. This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.
Antigen Description
Plays a role in membrane ruffling and assembly of clathrin-coated pits at the synapse. Mediates RAC1-dependent reorganization of actin filaments (By similarity). Participates in the biosynthesis of phosphatidylinositol-4,5-bisphosphate. Lethal congenital contracture syndrome 3 (LCCS3) [MIM:611369]: A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy, and congenital non-progressive joint contractures (arthrogryposis). The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS3 patients present at birth with severe multiple joint contractures and severe muscle wasting and atrophy, mainly in the legs. Death occurs minutes to hours after birth due to respiratory insufficiency. The phenotype can be distinguished from that of LCCS1 by the absence of hydrops, fractures and multiple pterygia, and from LCCS2 by the absence of neurogenic bladder defect. Note=The disease is caused by mutations affecting the gene represented in this entry. Phosphatidylinositol-4-phosphate 5-kinase type-1 gamma is an enzyme that in humans is encoded by the PIP5K1C gene. 0The function about PIP5K1C antigen include 1-phosphatidylinositol-4-phosphate 5-kinase activity; ATP binding; kinase activity; nucleotide binding; phosphatidylinositol phosphate kinase activity; transferase activity.
Pathway
3-phosphoinositide biosynthesis, organism-specific biosystem; Axon guidance, organism-specific biosystem; B Cell Receptor Signaling Pathway, organism-specific biosystem; D-myo-inositol (1,4,5)-trisphosphate biosynthesis, organism-specific biosystem; Developmental Biology, organism-specific biosystem; Endocytosis, organism-specific biosystem; Endocytosis, conserved biosystem.

Citations


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References


Park, J; Jang, M; et al. Deleterious effects of soluble amyloid-beta oligomers on multiple steps of synaptic vesicle trafficking. NEUROBIOLOGY OF DISEASE 55:129-139(2013).
Galandrini, R; Micucci, F; et al. Arf6: a new player in Fc gamma RIIIA lymphocyte-mediated cytotoxicity. BLOOD 106:577-583(2005).

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