KPTN
entrez
11133
canonical
uniprot
Q9Y664
canonical
ensembl
ENSG00000118162
resolver
ensp
ENSP00000337850
resolver
ensp
ENSP00000638741
resolver
genesymbol
KPTN
resolver
hgnc
HGNC:6404
resolver
uniprot
A0A384NLB4
resolver
uniprot
B3KN86
resolver
uniprot
B4DQ76
resolver
uniprot
Q96GT1
resolver
uniprot_entry
A0A384NLB4_HUMAN
resolver
uniprot_entry
KPTN_HUMAN
resolver
uniprot_sec
B3KN86
resolver
uniprot_sec
B4DQ76
resolver
uniprot_sec
Q96GT1
resolver
amino_acid_sequence
MMGEAAVAAGPCPLREDSFTRFSSQSNVYGLAGGAGGRGELLAATLKGKVLGFRYQDLRQKIRPVAKELQFNYIPVDAEIVSIDTFNKSPPKRGLVVGITFIKDSGDKGSPFLNIYCDYEPGSEYNLDSIAQSCLNLELQFTPFQLCHAEVQVGDQLETVFLLSGNDPAIHLYKENEGLHQFEEQPVENLFPELTNLTSSVLWLDVHNFPGTSRRLSALGCQSGYVRVAHVDQRSREVLQMWSVLQDGPISRVIVFSLSAAKETKDRPLQDEYSVLVASMLEPAVVYRDLLNRGLEDQLLLPGSDQFDSVLCSLVTDVDLDGRPEVLVATYGQELLCYKYRGPESGLPEAQHGFHLLWQRSFSSPLLAMAHVDLTGDGLQELAVVSLKGVHILQHSLIQASELVLTRLRHQVEQRRRRLQGLEDGAGAGPAENAAS
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal recessive 41 (MRT41) [MIM:615637]: 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. {ECO:0000269|PubMed:24239382}. 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
48080
uniprot
proteins
pubmed
10099934
uniprot
proteins
pubmed
1372044
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24239382
uniprot
proteins
pubmed
28199306
uniprot
proteins
sequence_length
436
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:28199306}. Cell projection, lamellipodium {ECO:0000269|PubMed:10099934, ECO:0000269|PubMed:24239382}. Cell projection, stereocilium {ECO:0000250|UniProtKB:A0A1D5PJB7}. Note=Localization to lysosomes is amino acid-independent (PubMed:28199306). Colocalizes with F-actin (PubMed:24239382). {ECO:0000269|PubMed:24239382, ECO:0000269|PubMed:28199306}.
uniprot
proteins