TTI2
entrez
80185
canonical
uniprot
Q6NXR4
canonical
ensembl
ENSG00000129696
resolver
ensp
ENSP00000353971
resolver
ensp
ENSP00000411169
resolver
ensp
ENSP00000428401
resolver
ensp
ENSP00000478396
resolver
ensp
ENSP00000567682
resolver
enst
ENST00000360742
resolver
enst
ENST00000431156
resolver
enst
ENST00000520636
resolver
enst
ENST00000613904
resolver
genesymbol
TTI2
resolver
genesymbol_syn
C8orf41
resolver
hgnc
HGNC:26262
resolver
uniprot
D3DSV7
resolver
uniprot
E5RIH5
resolver
uniprot
Q96IM2
resolver
uniprot
Q9H5N4
resolver
uniprot_entry
E5RIH5_HUMAN
resolver
uniprot_entry
TTI2_HUMAN
resolver
uniprot_sec
D3DSV7
resolver
uniprot_sec
Q96IM2
resolver
uniprot_sec
Q9H5N4
resolver
amino_acid_sequence
MELDSALEAPSQEDSNLSEELSHSAFGQAFSKILHCLARPEARRGNVKDAVLKDLGDLIEATEFDRLFEGTGARLRGMPETLGQVAKALEKYAAPSKEEEGGGDGHSEAAEKAAQVGLLFLKLLGKVETAKNSLVGPAWQTGLHHLAGPVYIFAITHSLEQPWTTPRSREVAREVLTSLLQVTECGSVAGFLHGENEDEKGRLSVILGLLKPDLYKESWKNNPAIKHVFSWTLQQVTRPWLSQHLERVLPASLVISDDYQTENKILGVHCLHHIVLNVPAADLLQYNRAQVLYHAISNHLYTPEHHLIQAVLLCLLDLFPILEKTLHWKGDGARPTTHCDEVLRLILTHMEPEHRLLLRRTYARNLPAFVNRLGILTVRHLKRLERVIIGYLEVYDGPEEEARLKILETLKLLMQHTWPRVSCRLVVLLKALLKLICDVARDPNLTPESVKSALLQEATDCLILLDRCSQGRVKGLLAKIPQSCEDRKVVNYIRKVQQVSEGAPYNGT
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal recessive 39 (MRT39) [MIM:615541]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT39 affected individuals show delayed psychomotor development, severe speech delay, short stature, kyphoscoliosis, and dysmorphic facial features. Behavioral abnormalities include hyperactivity, aggression, and stereotypic movements. {ECO:0000269|PubMed:23956177}. 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. {ECO:0000269|PubMed:20801936, ECO:0000269|PubMed:20810650}.
uniprot
proteins
mass_dalton
56915
uniprot
proteins
protein_family
TTI2 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
20801936
uniprot
proteins
pubmed
20810650
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23956177
uniprot
proteins
pubmed
26812014
uniprot
proteins
sequence_length
508
uniprot
proteins