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Mouse Anti-KPTN Recombinant Antibody (1C7) (CBMAB-K1489-LY)

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Datasheet
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Basic Information

Host Animal
Mouse
Clone
1C7
Application
ELISA, IF, WB
Immunogen
Full length recombinant corresponding to aa1-437 KPTN (AAH09249) with GST tag. MW of the GST tag alone is 26kD
Specificity
Human
Antibody Isotype
IgG2a, κ
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Purity
> 95% Purity determined by SDS-PAGE.
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.
More Infomation

Target

Full Name
Kaptin, Actin Binding Protein
Introduction
This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. This protein is part of the KICSTOR protein complex that localizes to lysosomes. Mutations in this gene result in an autosomal recessive form of intellectual disability. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2017]
Entrez Gene ID
11133
UniProt ID
Q9Y664
Alternative Names
Kaptin; Actin Binding Protein; Actin-Associated Protein 2E4; Kaptin (Actin-Binding Protein); KICSTOR Complex Protein Kaptin; Kaptin; MRT41; 2E4;
Function
As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose.
Biological Process
Actin filament organizationIEA:InterPro
Cellular response to amino acid starvationManual Assertion Based On ExperimentIMP:UniProtKB
Cellular response to glucose starvationManual Assertion Based On ExperimentIMP:UniProtKB
Negative regulation of TORC1 signalingManual Assertion Based On ExperimentIMP:UniProtKB
Protein localization to lysosomeManual Assertion Based On ExperimentIMP:UniProtKB
Cellular Location
Lysosome membrane
Cell projection, lamellipodium
Cell projection, stereocilium
Localization to lysosomes is amino acid-independent (PubMed:28199306).
Colocalizes with F-actin (PubMed:24239382).
Involvement in disease
Mental retardation, autosomal recessive 41 (MRT41):
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT41 most consistent features are global developmental delay, macrocephaly with frontal bossing, high levels of anxiety, and some features suggestive of a pervasive developmental disorder. Less common features include fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.

Dutta, P., Maiti, I., Ghose, A., Chauhan, R. D., & Maiti, S. (2023). The actin-associated protein Kaptin modulates F-actin barbed-end dynamics. bioRxiv, 2023-10.

Thiffault, I., Atherton, A., Heese, B. A., Abdelmoity, A. T., Pawar, K., Farrow, E., ... & Saunders, C. (2020). Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing. Molecular Case Studies, 6(3), a003970.

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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

Isotype control

For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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