TTI1
entrez
9675
canonical
uniprot
O43156
canonical
ensembl
ENSG00000101407
resolver
ensp
ENSP00000362546
resolver
ensp
ENSP00000362547
resolver
ensp
ENSP00000569021
resolver
ensp
ENSP00000711755
resolver
ensp
ENSP00000711756
resolver
ensp
ENSP00000711758
resolver
enst
ENST00000373447
resolver
enst
ENST00000373448
resolver
enst
ENST00000898962
resolver
genesymbol
TTI1
resolver
genesymbol_syn
KIAA0406
resolver
genesymbol_syn
SMG10
resolver
hgnc
HGNC:29029
resolver
uniprot
D6W4K3
resolver
uniprot
Q5JX67
resolver
uniprot
Q96A38
resolver
uniprot
Q9BR47
resolver
uniprot
Q9H4K0
resolver
uniprot_entry
TTI1_HUMAN
resolver
uniprot_sec
D6W4K3
resolver
uniprot_sec
Q5JX67
resolver
uniprot_sec
Q96A38
resolver
uniprot_sec
Q9BR47
resolver
uniprot_sec
Q9H4K0
resolver
amino_acid_sequence
MAVFDTPEEAFGVLRPVCVQLTKTQTVENVEHLQTRLQAVSDSALQELQQYILFPLRFTLKTPGPKRERLIQSVVECLTFVLSSTCVKEQELLQELFSELSACLYSPSSQKPAAVSEELKLAVIQGLSTLMHSAYGDIILTFYEPSILPRLGFAVSLLLGLAEQEKSKQIKIAALKCLQVLLLQCDCQDHPRSLDELEQKQLGDLFASFLPGISTALTRLITGDFKQGHSIVVSSLKIFYKTVSFIMADEQLKRISKVQAKPAVEHRVAELMVYREADWVKKTGDKLTILIKKIIECVSVHPHWKVRLELVELVEDLLLKCSQSLVECAGPLLKALVGLVNDESPEIQAQCNKVLRHFADQKVVVGNKALADILSESLHSLATSLPRLMNSQDDQGKFSTLSLLLGYLKLLGPKINFVLNSVAHLQRLSKALIQVLELDVADIKIVEERRWNSDDLNASPKTSATQPWNRIQRRYFRFFTDERIFMLLRQVCQLLGYYGNLYLLVDHFMELYHQSVVYRKQAAMILNELVTGAAGLEVEDLHEKHIKTNPEELREIVTSILEEYTSQENWYLVTCLETEEMGEELMMEHPGLQAITSGEHTCQVTSFLAFSKPSPTICSMNSNIWQICIQLEGIGQFAYALGKDFCLLLMSALYPVLEKAGDQTLLISQVATSTMMDVCRACGYDSLQHLINQNSDYLVNGISLNLRHLALHPHTPKVLEVMLRNSDANLLPLVADVVQDVLATLDQFYDKRAASFVSVLHALMAALAQWFPDTGNLGHLQEQSLGEEGSHLNQRPAALEKSTTTAEDIEQFLLNYLKEKDVADGNVSDFDNEEEEQSVPPKVDENDTRPDVEPPLPLQIQIAMDVMERCIHLLSDKNLQIRLKVLDVLDLCVVVLQSHKNQLLPLAHQAWPSLVHRLTRDAPLAVLRAFKVLRTLGSKCGDFLRSRFCKDVLPKLAGSLVTQAPISARAGPVYSHTLAFKLQLAVLQGLGPLCERLDLGEGDLNKVADACLIYLSVKQPVKLQEAARSVFLHLMKVDPDSTWFLLNELYCPVQFTPPHPSLHPVQLHGASGQQNPYTTNVLQLLKELQ
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with microcephaly and movement abnormalities (NEDMIM) [MIM:620445]: An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development with language impairment ranging from delayed speech to non-verbal, and delayed walking with an abnormal gait. Affected individuals may show hypotonia or hypertonia with spasticity, ataxia, and choreoathetoid movements. Most patients have microcephaly, non-specific dysmorphic features and short stature. Additional variable features include ocular defects, seizures, brain malformations, and skeletal defects. {ECO:0000269|PubMed:26539891, ECO:0000269|PubMed:36724785}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Regulator of the DNA damage response (DDR). Part of the TTT complex that is required to stabilize protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT complex is involved in the cellular resistance to DNA damage stresses, like ionizing radiation (IR), ultraviolet (UV) and mitomycin C (MMC). Together with the TTT complex and HSP90 may participate in the proper folding of newly synthesized PIKKs. Promotes assembly, stabilizes and maintains the activity of mTORC1 and mTORC2 complexes, which regulate cell growth and survival in response to nutrient and hormonal signals. {ECO:0000269|PubMed:20427287, ECO:0000269|PubMed:20801936, ECO:0000269|PubMed:20810650, ECO:0000269|PubMed:36724785}.
uniprot
proteins
mass_dalton
122069
uniprot
proteins
mutagenesis
MUTAGEN 828; /note="S->A: Abolishes phosphorylation by CK2 in response to growth factor deprivation and subsequent ubiquitination and degradation."; /evidence="ECO:0000269|PubMed:23263282
uniprot
proteins
post_translational_modification
PTM: Phosphorylated at Ser-828 by CK2 following growth factor deprivation, leading to its subsequent ubiquitination by the SCF(FBXO9) complex. Phosphorylation by CK2 only takes place when TELO2 is bound to mTORC1, not mTORC2; leading to selective ubiquitination of mTORC1-associated protein. {ECO:0000269|PubMed:23263282}.; PTM: Ubiquitinated by the SCF(FBXO9) complex following phosphorylation by CK2 in response to growth factor deprivation, leading to its degradation by the proteasome. Only mTORC1-associated protein is ubiquitinated and degraded, leading to selective inactivation of mTORC1 to restrain cell growth and protein translation, while mTORC2 is activated due to the relief of feedback inhibition by mTORC1. {ECO:0000269|PubMed:23263282}.
uniprot
proteins
protein_family
Tti1 family
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20371770
uniprot
proteins
pubmed
20427287
uniprot
proteins
pubmed
20801936
uniprot
proteins
pubmed
20810650
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23263282
uniprot
proteins
pubmed
26539891
uniprot
proteins
pubmed
26812014
uniprot
proteins
pubmed
36724785
uniprot
proteins
pubmed
9455477
uniprot
proteins
sequence_length
1089
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23263282}.
uniprot
proteins