AlphaFold predicted structure
KPTN · Q9Y664
Mean pLDDT
88.9/ 100
Confident
436 residues
Confidence breakdown
- Very high(≥ 90)72%
- Confident(70–90)19%
- Low(50–70)3%
- Very low(< 50)6%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
KPTN
Chr 19q13.32kaptin, actin binding protein
- Aliases:
- 2E4, KICS4
- MANE:
- ENST00000338134.8
Annotations refreshed 11 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalRare syndromic craniosynostosis or isolated multisuture synostosis
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
macrocephaly-developmental delay syndrome
0.79hereditary disease
0.47complex neurodevelopmental disorder
0.37brain aneurysm
0.21craniosynostosis
0.20Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
0.07obesity due to melanocortin 4 receptor deficiency
0.06Genetic central nervous system malformation
0.06autosomal recessive primary microcephaly
0.06megalencephalic leukoencephalopathy with subcortical cysts
0.06
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
KICSTOR complex protein kaptin
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