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Protein

TELO2-interacting protein 2

Gene

TTI2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.2 Publications

Names & Taxonomyi

Protein namesi
Recommended name:
TELO2-interacting protein 2
Gene namesi
Name:TTI2
Synonyms:C8orf41
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000129696.12
HGNCiHGNC:26262 TTI2
MIMi614426 gene
neXtProtiNX_Q6NXR4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal recessive 39 (MRT39)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615541
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070671436I → N in MRT39; impaired TTT complex formation. 1 PublicationCorresponds to variant dbSNP:rs398122367Ensembl.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi80185
MalaCardsiTTI2
MIMi615541 phenotype
OpenTargetsiENSG00000129696
Orphaneti391307 Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome
PharmGKBiPA142672360

Polymorphism and mutation databases

BioMutaiTTI2
DMDMi74736990

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002794141 – 508TELO2-interacting protein 2Add BLAST508

Proteomic databases

EPDiQ6NXR4
MaxQBiQ6NXR4
PaxDbiQ6NXR4
PeptideAtlasiQ6NXR4
PRIDEiQ6NXR4

PTM databases

iPTMnetiQ6NXR4
PhosphoSitePlusiQ6NXR4

Expressioni

Gene expression databases

BgeeiENSG00000129696
CleanExiHS_C8orf41
ExpressionAtlasiQ6NXR4 baseline and differential
GenevisibleiQ6NXR4 HS

Organism-specific databases

HPAiHPA023523
HPA029823

Interactioni

Subunit structurei

Component of the TTT complex composed of TELO2, TTI1 and TTI2. Interacts with TELO2 and TTI1 (PubMed:20801936, PubMed:20810650). Interacts with WAC; WAC positively regulates MTOR activity by promoting the assembly of the TTT complex and the RUVBL complex composed of RUVBL1 and RUVBL2 into the TTT-RUVBL complex which leads to the dimerization of the mTORC1 complex and its subsequent activation (PubMed:26812014).3 Publications

Protein-protein interaction databases

BioGridi123164, 24 interactors
IntActiQ6NXR4, 11 interactors
MINTiQ6NXR4
STRINGi9606.ENSP00000353971

Structurei

3D structure databases

ProteinModelPortaliQ6NXR4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TTI2 family.Curated

Phylogenomic databases

eggNOGiENOG410IDZC Eukaryota
ENOG4111H5A LUCA
GeneTreeiENSGT00390000003878
HOGENOMiHOG000285995
HOVERGENiHBG060342
InParanoidiQ6NXR4
OMAiATDCLIL
OrthoDBiEOG091G0QCD
PhylomeDBiQ6NXR4
TreeFamiTF328871

Family and domain databases

InterProiView protein in InterPro
IPR016024 ARM-type_fold
IPR018870 Tti2
PfamiView protein in Pfam
PF10521 Tti2, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit

Sequencei

Sequence statusi: Complete.

Q6NXR4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MELDSALEAP SQEDSNLSEE LSHSAFGQAF SKILHCLARP EARRGNVKDA
60 70 80 90 100
VLKDLGDLIE ATEFDRLFEG TGARLRGMPE TLGQVAKALE KYAAPSKEEE
110 120 130 140 150
GGGDGHSEAA EKAAQVGLLF LKLLGKVETA KNSLVGPAWQ TGLHHLAGPV
160 170 180 190 200
YIFAITHSLE QPWTTPRSRE VAREVLTSLL QVTECGSVAG FLHGENEDEK
210 220 230 240 250
GRLSVILGLL KPDLYKESWK NNPAIKHVFS WTLQQVTRPW LSQHLERVLP
260 270 280 290 300
ASLVISDDYQ TENKILGVHC LHHIVLNVPA ADLLQYNRAQ VLYHAISNHL
310 320 330 340 350
YTPEHHLIQA VLLCLLDLFP ILEKTLHWKG DGARPTTHCD EVLRLILTHM
360 370 380 390 400
EPEHRLLLRR TYARNLPAFV NRLGILTVRH LKRLERVIIG YLEVYDGPEE
410 420 430 440 450
EARLKILETL KLLMQHTWPR VSCRLVVLLK ALLKLICDVA RDPNLTPESV
460 470 480 490 500
KSALLQEATD CLILLDRCSQ GRVKGLLAKI PQSCEDRKVV NYIRKVQQVS

EGAPYNGT
Length:508
Mass (Da):56,915
Last modified:July 5, 2004 - v1
Checksum:i6BF98826997034F7
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti468C → R in BAB15590 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03088663E → G3 PublicationsCorresponds to variant dbSNP:rs2304748Ensembl.1
Natural variantiVAR_030887425L → R. Corresponds to variant dbSNP:rs3736497Ensembl.1
Natural variantiVAR_070671436I → N in MRT39; impaired TTT complex formation. 1 PublicationCorresponds to variant dbSNP:rs398122367Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK026916 mRNA Translation: BAB15590.1
AC091144 Genomic DNA No translation available.
CH471080 Genomic DNA Translation: EAW63397.1
CH471080 Genomic DNA Translation: EAW63398.1
BC007387 mRNA Translation: AAH07387.1
BC066935 mRNA Translation: AAH66935.1
CCDSiCCDS6090.1
RefSeqiNP_001095871.1, NM_001102401.2
NP_001252510.1, NM_001265581.1
NP_079391.2, NM_025115.3
UniGeneiHs.742048
Hs.77135

Genome annotation databases

EnsembliENST00000360742; ENSP00000353971; ENSG00000129696
ENST00000431156; ENSP00000411169; ENSG00000129696
ENST00000613904; ENSP00000478396; ENSG00000129696
GeneIDi80185
KEGGihsa:80185
UCSCiuc003xjl.6 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTTI2_HUMAN
AccessioniPrimary (citable) accession number: Q6NXR4
Secondary accession number(s): D3DSV7, Q96IM2, Q9H5N4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 6, 2007
Last sequence update: July 5, 2004
Last modified: March 28, 2018
This is version 110 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
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Main funding by: National Institutes of Health