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Aliases for TTI1 Gene

Aliases for TTI1 Gene

  • TELO2 Interacting Protein 1 2 3 5
  • KIAA0406 2 3 4
  • Smg-10 Homolog, Nonsense Mediated MRNA Decay Factor (C. Elegans) 2
  • Smg-10 Homolog, Nonsense Mediated MRNA Decay Factor 3
  • Tel2 Interacting Protein 1 Homolog (S. Pombe) 2
  • TELO2-Interacting Protein 1 Homolog 3
  • TEL2-Interacting Protein 1 Homolog 3
  • Tel Two Interacting Protein 1 3
  • Protein SMG10 4
  • Smg-10 3
  • SMG10 4

External Ids for TTI1 Gene

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.

Additional gene information for TTI1 Gene

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
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20I038031 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 572.8 -0.2 -214 3.5 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 TTI1 RPRD1B SNHG17 SNORA71A ACTR5 RALGAPB SNORA71C RN7SKP173 RPN2 RPS3P2
GH20I038139 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 42.4 -122.5 -122522 33.6 MLX ZFP64 YBX1 DMAP1 YY1 SLC30A9 ZNF143 MCM3 SP3 NFYC TGM2 SNHG17 RALGAPB ACTR5 RN7SKP173 SNORA71A TTI1 SNORA71C RPN2 DHX35
GH20I038433 Promoter/Enhancer 1.6 Ensembl ENCODE 42.2 -401.4 -401350 2.9 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 SNHG17 GC20M038434 GC20M038437 SNORA71D ACTR5 RALGAPB ENSG00000224635 TTI1 SNORA71A SNORA71C
GH20I037177 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 22.3 +854.2 854192 3.3 CLOCK ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 MROH8 RPN2 TTI1 RBL1 DSN1 AAR2 CTNNBL1 DLGAP4-AS1
GH20I037042 Enhancer 1.1 Ensembl ENCODE 44.6 +989.6 989558 2.1 HDGF PKNOX1 ZNF529 BMI1 BATF IRF4 ZNF121 ZNF213 ZNF354C ZNF138 TTI1 SOGA1 RBL1 AAR2 MANBAL DSN1 RPN2 MROH8 TLDC2 CTNNBL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TTI1 on UCSC Golden Path with GeneCards custom track

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:
TTI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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};

neXtProt entry 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

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

Graphical View of Domain Structure for InterPro Entry

O43156

UniProtKB/Swiss-Prot:

TTI1_HUMAN :
  • Belongs to the tti1 family.
Family:
  • Belongs to the tti1 family.
genes like me logo Genes that share domains with TTI1: view

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

Gene Ontology (GO) - Molecular Function for TTI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20371770
genes like me logo Genes that share ontologies with TTI1: view
genes like me logo Genes that share phenotypes with TTI1: view

Animal Model Products

miRNA for TTI1 Gene

miRTarBase miRNAs that target TTI1

Inhibitory RNA Products

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TTI1 gene
Compartment Confidence
mitochondrion 2
nucleus 2
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TTI1 Gene

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
genes like me logo Genes that share ontologies with TTI1: view

Pathways & Interactions for TTI1 Gene

SuperPathway Contained pathways
1 mTOR signaling pathway (KEGG)
genes like me logo Genes that share pathways with TTI1: view

Pathways by source for TTI1 Gene

1 KEGG pathway for TTI1 Gene

SIGNOR curated interactions for TTI1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for TTI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032006 regulation of TOR signaling IMP 23263282
genes like me logo Genes that share ontologies with TTI1: view

Drugs & Compounds for TTI1 Gene

No Compound Related Data Available

Transcripts for TTI1 Gene

Unigene Clusters for TTI1 Gene

TELO2 interacting protein 1:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TTI1 Gene

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: -

Relevant External Links for TTI1 Gene

GeneLoc Exon Structure for
TTI1
ECgene alternative splicing isoforms for
TTI1

Expression for TTI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TTI1 Gene

Protein differential expression in normal tissues from HIPED 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:

TTI1

SOURCE GeneReport for Unigene cluster for TTI1 Gene:

Hs.655481

mRNA 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)
genes like me logo Genes that share expression patterns with TTI1: view

Primer 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.

Orthologs for TTI1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TTI1 33 34
  • 99.42 (n)
dog
(Canis familiaris)
Mammalia TTI1 33 34
  • 87.84 (n)
mouse
(Mus musculus)
Mammalia Tti1 33 16 34
  • 85.42 (n)
rat
(Rattus norvegicus)
Mammalia Tti1 33
  • 85.33 (n)
cow
(Bos Taurus)
Mammalia TTI1 33 34
  • 85.09 (n)
oppossum
(Monodelphis domestica)
Mammalia TTI1 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC101749634 33
  • 64.11 (n)
TTI1 34
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TTI1 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tti1 33
  • 53.96 (n)
zebrafish
(Danio rerio)
Actinopterygii tti1 33 34
  • 57.01 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004152 33
  • 40.09 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG16908 33 34
  • 39.49 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TTI1 34 36
  • 18 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 26 (a)
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)

Evolution for TTI1 Gene

ENSEMBL:
Gene Tree for TTI1 (if available)
TreeFam:
Gene Tree for TTI1 (if available)

Paralogs for TTI1 Gene

(2) SIMAP similar genes for TTI1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TTI1: view

No data available for Paralogs for TTI1 Gene

Variants for TTI1 Gene

Sequence variations from dbSNP and Humsavar 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

Structural Variations from Database of Genomic Variants (DGV) for TTI1 Gene

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

Variation tolerance for TTI1 Gene

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

Human Gene Mutation Database (HGMD)
TTI1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTI1

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

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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

  • Addgene plasmids for TTI1

Sources for TTI1 Gene

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