KPTN gene

kaptin, actin binding protein

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. Mutations in this gene result in recessive mental retardation-41. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]

From UniProt:

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.

From NCBI Gene:

  • Mental retardation, autosomal recessive 41

From UniProt:

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. [MIM:615637]

Cytogenetic Location: 19q13.32, which is the long (q) arm of chromosome 19 at position 13.32

Molecular Location: base pairs 47,475,141 to 47,486,792 on chromosome 19 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 19q13.32, which is the long (q) arm of chromosome 19 at position 13.32
  • 2E4
  • MRT41