KPTN

• Official Symbol: KPTN
• Official Name: kaptin, actin binding protein
• Aliases and Previous Symbols: N/A
• Entrez ID: 11133
• UniProt: Q9Y664
• Interactions: BioGRID
• PubMed articles: Open PubMed
• OMIM: Open OMIM

• Entrez Summary: 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].
• UniProt Summary: 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. {ECO:0000269|PubMed:28199306}.

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

• Essentiality Rank: 13808
• Expression level (log2 read counts): 3.89

Expression Distribution

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KPTN Expression in NALM6 Cells: 3.89