KICS2
entrez
144577
canonical
uniprot
Q96MD2
canonical
ensembl
ENSG00000174206
resolver
ensp
ENSP00000311486
resolver
ensp
ENSP00000381132
resolver
ensp
ENSP00000445481
resolver
ensp
ENSP00000577683
resolver
enst
ENST00000311915
resolver
enst
ENST00000398055
resolver
enst
ENST00000544871
resolver
enst
ENST00000907624
resolver
genesymbol
KICS2
resolver
genesymbol_syn
C12orf66
resolver
hgnc
HGNC:26517
resolver
uniprot
C9JX54
resolver
uniprot
F5H2Q3
resolver
uniprot
J3KNH0
resolver
uniprot
Q8IYA0
resolver
uniprot_entry
F5H2Q3_HUMAN
resolver
uniprot_entry
J3KNH0_HUMAN
resolver
uniprot_entry
KICS2_HUMAN
resolver
uniprot_sec
C9JX54
resolver
uniprot_sec
Q8IYA0
resolver
amino_acid_sequence
MGESIPLAAPVPVEQAVLETFFSHLGIFSYDKAKDNVEKEREANKSAGGSWLSLLAALAHLAAAEKVYHSLTYLGQKLGGQSFFSRKDSIRTIYTSLHNELKKVVTGRGALGGTAPHVEELLSHLSEQLCFFVQARMEIADFYEKMYTLSTQKFINAEELVGLLDAIMKKYSSRFHHPILSPLESSFQLEVDVLCHLLKAQAQVSEWKFLPSLVNLHSAHTKLQTWGQIFEKQRETKKHLFGGQSQKAVQPPHLFLWLMKLKNMLLAKFSFYFHEALSRQTTASEMKTLTAKANPDFFGKISSFIRKYDAANVSLIFDNRGSESFQGHGYHHPHSYREAPKGVDQYPAVVSLPSDRPVMHWPNVIMIMTDRTSDLNSLEKVVHFYDDKVQSTYFLTRPEPHFTIVIIFESKKSERDSHFISFLNEVSLALKNPKVFASLKPGAKG
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal recessive 83 (MRT83) [MIM:621100]: An autosomal recessive disorder characterized by developmental delay, mild to moderate intellectual disability, and poor or absent speech. Additional variable features include seizures, hearing impairment, hypotonia, and non-specific facial dysmorphism. {ECO:0000269|PubMed:39824192}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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. {ECO:0000269|PubMed:28199306}.
uniprot
proteins
mass_dalton
50397
uniprot
proteins
protein_family
KICS2 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
28199306
uniprot
proteins
pubmed
39824192
uniprot
proteins
sequence_length
445
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000305|PubMed:28199306}.
uniprot
proteins