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Protein

TELO2-interacting protein 2

Gene

TTI2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-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

HGNCiHGNC:26262. TTI2.

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti436 – 4361I → N in MRT39; impaired TTT complex formation. 1 Publication
Corresponds to variant rs398122367 [ dbSNP | Ensembl ].
VAR_070671

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

MalaCardsiTTI2.
MIMi615541. phenotype.
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)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 508508TELO2-interacting protein 2PRO_0000279414Add
BLAST

Proteomic databases

EPDiQ6NXR4.
MaxQBiQ6NXR4.
PaxDbiQ6NXR4.
PeptideAtlasiQ6NXR4.
PRIDEiQ6NXR4.

PTM databases

iPTMnetiQ6NXR4.
PhosphoSiteiQ6NXR4.

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 TTI1.2 Publications

Protein-protein interaction databases

BioGridi123164. 21 interactions.
IntActiQ6NXR4. 11 interactions.
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

InterProiIPR016024. ARM-type_fold.
IPR018870. Tti2.
[Graphical view]
PfamiPF10521. DUF2454. 1 hit.
[Graphical view]
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti468 – 4681C → R in BAB15590 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti63 – 631E → G.3 Publications
Corresponds to variant rs2304748 [ dbSNP | Ensembl ].
VAR_030886
Natural varianti425 – 4251L → R.
Corresponds to variant rs3736497 [ dbSNP | Ensembl ].
VAR_030887
Natural varianti436 – 4361I → N in MRT39; impaired TTT complex formation. 1 Publication
Corresponds to variant rs398122367 [ dbSNP | Ensembl ].
VAR_070671

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ6NXR4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123164. 21 interactions.
IntActiQ6NXR4. 11 interactions.
STRINGi9606.ENSP00000353971.

PTM databases

iPTMnetiQ6NXR4.
PhosphoSiteiQ6NXR4.

Polymorphism and mutation databases

BioMutaiTTI2.
DMDMi74736990.

Proteomic databases

EPDiQ6NXR4.
MaxQBiQ6NXR4.
PaxDbiQ6NXR4.
PeptideAtlasiQ6NXR4.
PRIDEiQ6NXR4.

Protocols and materials databases

DNASUi80185.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi80185.
GeneCardsiTTI2.
H-InvDBHIX0021171.
HGNCiHGNC:26262. TTI2.
HPAiHPA023523.
HPA029823.
MalaCardsiTTI2.
MIMi614426. gene.
615541. phenotype.
neXtProtiNX_Q6NXR4.
Orphaneti391307. Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome.
PharmGKBiPA142672360.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

ChiTaRSiTTI2. human.
GenomeRNAii80185.
PROiQ6NXR4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000129696.
CleanExiHS_C8orf41.
ExpressionAtlasiQ6NXR4. baseline and differential.
GenevisibleiQ6NXR4. HS.

Family and domain databases

InterProiIPR016024. ARM-type_fold.
IPR018870. Tti2.
[Graphical view]
PfamiPF10521. DUF2454. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiTTI2_HUMAN
AccessioniPrimary (citable) accession number: Q6NXR4
Secondary accession number(s): D3DSV7, Q96IM2, Q9H5N4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 6, 2007
Last sequence update: July 5, 2004
Last modified: September 7, 2016
This is version 101 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.