Aliases for TTI1 Gene
Aliases for TTI1 Gene
External Ids for TTI1 Gene
- HGNC: 29029
- Entrez Gene: 9675
- Ensembl: ENSG00000101407
- OMIM: 614425
- UniProtKB: O43156
Previous HGNC Symbols for TTI1 Gene
- KIAA0406
Previous GeneCards Identifiers for TTI1 Gene
- GC20M036612
- GC20M033347
Summaries for TTI1 Gene
GeneCards Summary for TTI1 Gene
TTI1 (TELO2 Interacting Protein 1) is a Protein Coding gene. Among its related pathways are mTOR signaling pathway (KEGG). Gene Ontology (GO) annotations related to this gene include binding.
UniProtKB/Swiss-Prot for TTI1 Gene
-
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.
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTI1 Gene
Genomics for TTI1 Gene
GeneHancer (GH) Regulatory Elements for TTI1 Gene
Promoters and enhancers for TTI1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around TTI1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for TTI1 Gene
Genomic Locations for TTI1 Gene
- chr20:37,983,007-38,033,468
- (GRCh38/hg38)
- Size:
- 50,462 bases
- Orientation:
- Minus strand
- chr20:36,611,409-36,661,870
- (GRCh37/hg19)
Genomic View for TTI1 Gene
Genes around TTI1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20q11.23 by Ensembl
- 20q11.23 by Entrez Gene
- 20q11.23 by HGNC
TTI1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TTI1 Gene
Proteins for TTI1 Gene
-
Protein details for TTI1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O43156-TTI1_HUMAN
- Recommended name:
- TELO2-interacting protein 1 homolog
- Protein Accession:
- O43156
- D6W4K3
- Q5JX67
- Q96A38
- Q9BR47
- Q9H4K0
Protein attributes for TTI1 Gene
- Size:
- 1089 amino acids
- Molecular mass:
- 122069 Da
- Quaternary structure:
-
- Component of the TTT complex composed of TELO2, TTI1 and TTI2 (PubMed:20801936). Interacts with ATM, ATR, MTOR, PRKDC, RUVBL1, SMG1, TELO2, TRRAP AND TTI2 (PubMed:20371770, PubMed:20427287, PubMed:20810650). Component of the mTORC1 and mTORC2 complexes (PubMed:23263282). 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).
- SequenceCaution:
-
- Sequence=BAA23702.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Protein Expression for TTI1 Gene
Post-translational modifications for TTI1 Gene
- 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.
- 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.
Other Protein References for TTI1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
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-
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Protein Products
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-
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Assay Products
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No data available for DME Specific Peptides for TTI1 Gene
Domains & Families for TTI1 Gene
Gene Families for TTI1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for TTI1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for TTI1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O43156- Family:
-
- Belongs to the tti1 family.
Function for TTI1 Gene
Molecular function for TTI1 Gene
- UniProtKB/Swiss-Prot 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.
Phenotypes From GWAS Catalog for TTI1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 20371770 |
Phenotypes for TTI1 Gene
- GenomeRNAi human phenotypes for TTI1:
Animal Model Products
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-
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CRISPR Products
-
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TTI1
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miRNA for TTI1 Gene
- miRTarBase miRNAs that target TTI1
miRNA Products
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Inhibitory RNA Products
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for TTI1
- genomics-online: cdna clones - Search results for available TTI1 gene related products
- orf clones - Search results for available TTI1 gene related products
- Applied Biological Materials Clones for TTI1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TTI1 Gene
Localization for TTI1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TTI1 Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| mitochondrion | 2 |
| nucleus | 2 |
| cytosol | 2 |
| peroxisome | 1 |
- Nucleoplasm (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IDA,IEA | 23263282 |
| GO:0031931 | TORC1 complex | IDA | 23263282 |
| GO:0031932 | TORC2 complex | IDA | 23263282 |
Pathways & Interactions for TTI1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | mTOR signaling pathway (KEGG) | ||
Pathways by source for TTI1 Gene
1 KEGG pathway for TTI1 Gene
Interacting Proteins for TTI1 Gene
Selected Interacting proteins:
ENSP00000362546
O43156-TTI1_HUMAN
for TTI1 Gene via
STRING
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0032006 | regulation of TOR signaling | IMP | 23263282 |
Transcripts for TTI1 Gene
mRNA/cDNA for TTI1 Gene
- (4) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (140) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for TTI1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for TTI1
- genomics-online: gRNA clones - Search results for available TTI1 gene related products
- Applied Biological Materials CRISPR for TTI1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TTI1
- GenScript: Design CRISPR guide RNA sequences for TTI1
miRNA Products
- Search ViGene Biosciences for TTI1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for TTI1
- Browse OriGene Inhibitory RNA Products For TTI1
- genomics-online: shRNA clones - Search results for available TTI1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for TTI1 gene
Clone Products
- Sino Biological Human cDNA Clone for TTI1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for TTI1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TTI1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for TTI1
- genomics-online: cdna clones - Search results for available TTI1 gene related products
- orf clones - Search results for available TTI1 gene related products
- Applied Biological Materials Clones for TTI1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | · | 8d | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||||
| SP7: | - |
Expression for TTI1 Gene
This gene is overexpressed in Bone (60.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TTI1 Gene
NURSA nuclear receptor signaling pathways regulating expression of TTI1 Gene:
TTI1SOURCE GeneReport for Unigene cluster for TTI1 Gene:
Hs.655481mRNA Expression by UniProt/SwissProt for TTI1 Gene:
O43156-TTI1_HUMAN
Tissue specificity:
Widely expressed.
Evidence on tissue expression from TISSUES for TTI1 Gene
- Nervous system(4.6)
Primer Products
-
OriGene qPCR primer pairs for TTI1
-
OriGene qPCR primer pairs and template standards for TTI1
- genomics-online: primer clones - Search results for available TTI1 gene related products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for TTI1 Gene
Orthologs for TTI1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TTI1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | TTI1 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Tti1 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Tti1 33 |
|
||
| cow (Bos Taurus) |
Mammalia | TTI1 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | TTI1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | LOC101749634 33 |
|
||
| TTI1 34 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | TTI1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | tti1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | tti1 33 34 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004152 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG16908 33 34 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TTI1 34 36 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne |
- Species where no ortholog for TTI1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for TTI1 Gene
(2) SIMAP similar genes for TTI1 Gene using alignment to 1 proteins:
No data available for Paralogs for TTI1 Gene
Variants for TTI1 Gene
| SNP ID | Clin | Chr 20 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs375131638 | likely-pathogenic, Abnormality of brain morphology | 37,999,220(-) | C/A/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1000064917 | -- | 38,005,482(-) | A/G | intron_variant | |
| rs1000118157 | -- | 38,005,261(-) | CC/C | intron_variant | |
| rs1000125159 | -- | 38,009,307(-) | T/C | intron_variant | |
| rs1000162354 | -- | 38,003,290(-) | T/C | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv833972 | CNV | loss | 17160897 |
| nsv833971 | CNV | gain | 17160897 |
| nsv1057334 | CNV | loss | 25217958 |
| esv3645770 | CNV | loss | 21293372 |
| esv2669429 | CNV | deletion | 23128226 |
Residual Variation Intolerance Score:
32% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.62;
56.53% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TTI1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTI1 Gene
Disorders for TTI1 Gene
Additional Disease Information for TTI1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No disorders were found for TTI1 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TTI1 Gene
Publications for TTI1 Gene
- Tti1 and Tel2 are critical factors in mammalian target of rapamycin complex assembly. (PMID: 20427287) Kaizuka T … Mizushima N (The Journal of biological chemistry 2010) 2 3 4 58
- AAA+ proteins RUVBL1 and RUVBL2 coordinate PIKK activity and function in nonsense-mediated mRNA decay. (PMID: 20371770) Izumi N … Ohno S (Science signaling 2010) 2 3 4 58
- Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9455477) Ishikawa K … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4 58
- SCFFbxo9 and CK2 direct the cellular response to growth factor withdrawal via Tel2/Tti1 degradation and promote survival in multiple myeloma. (PMID: 23263282) Fernández-Sáiz V … Bassermann F (Nature cell biology 2013) 3 4 58
- Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 44 58
Products for TTI1 Gene
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- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TTI1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for TTI1
- antibodies-online: Search results for 14 available TTI1 Antibodies ranked by validation data
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Sources for TTI1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
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