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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 3
  • Nonsense Mediated MRNA Decay Factor (C. Elegans) 2
  • Tel2 Interacting Protein 1 Homolog (S. Pombe) 2
  • TEL2-Interacting Protein 1 Homolog 3
  • Tel Two Interacting Protein 1 3
  • Smg-10 Homolog 2
  • 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. 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 , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTI1 Gene

Genomics for TTI1 Gene

Regulatory Elements for TTI1 Gene

Promoters for TTI1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TTI1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TTI1 Gene

Chromosome:
20
Start:
37,983,007 bp from pter
End:
38,033,468 bp from pter
Size:
50,462 bases
Orientation:
Minus strand

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. Interacts with ATM, ATR, MTOR, PRKDC, SMG1, TELO2, TRRAP AND TTI2. Component of the mTORC1 and mTORC2 complexes.
    SequenceCaution:
    • Sequence=BAA23702.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for TTI1 Gene

Proteomics data for TTI1 Gene at MOPED

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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TTI1 Gene

No data available for DME Specific Peptides for TTI1 Gene

Domains & Families for TTI1 Gene

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

No data available for Gene Families for TTI1 Gene

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.
genes like me logo Genes that share phenotypes with TTI1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for TTI1

CRISPR Products

miRNA for TTI1 Gene

miRTarBase miRNAs that target TTI1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for TTI1 Gene COMPARTMENTS Subcellular localization image for TTI1 gene
Compartment Confidence
cytosol 2
mitochondrion 2
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for TTI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 23263282
genes like me logo Genes that share ontologies with TTI1: view

Pathways & Interactions for TTI1 Gene

SuperPathways for TTI1 Gene

No Data Available

SIGNOR curated interactions for TTI1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for TTI1 Gene

None

No data available for Pathways by source for TTI1 Gene

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:

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 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, MOPED, and MaxQB for TTI1 Gene



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

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia TTI1 35
  • 85.09 (n)
  • 85.4 (a)
TTI1 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TTI1 35
  • 87.84 (n)
  • 87.96 (a)
TTI1 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tti1 35
  • 85.42 (n)
  • 85.15 (a)
Tti1 16
Tti1 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TTI1 35
  • 99.42 (n)
  • 98.99 (a)
TTI1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tti1 35
  • 85.33 (n)
  • 85.06 (a)
oppossum
(Monodelphis domestica)
Mammalia TTI1 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC101749634 35
  • 64.11 (n)
  • 60.98 (a)
TTI1 36
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TTI1 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tti1 35
  • 53.96 (n)
  • 48.76 (a)
zebrafish
(Danio rerio)
Actinopterygii tti1 35
  • 57.01 (n)
  • 55.56 (a)
tti1 36
  • 52 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004152 35
  • 40.09 (n)
  • 25.45 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG16908 35
  • 39.49 (n)
  • 23.31 (a)
CG16908 36
  • 19 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TTI1 36
  • 18 (a)
OneToOne
TTI1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 26 (a)
OneToOne
Species with no ortholog for TTI1:
  • 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 Sequence Context AA Info Type
rs1057238 - 38,011,805(-) GGTGG(C/T)TACCA nc-transcript-variant, reference, missense
rs1064275 - 37,996,812(-) CGCTG(A/G)CCTTC intron-variant, nc-transcript-variant, downstream-variant-500B, reference, missense
rs36059660 - 38,012,468(-) ACGGC(A/G)TTGGA nc-transcript-variant, reference, missense
rs34900517 - 37,996,378(-) TGCCA(A/G)GAGGT nc-transcript-variant, downstream-variant-500B, reference, missense, utr-variant-3-prime
rs6091654 - 38,011,566(+) TCTCT(C/T)ATCGT nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv833971 CNV Gain 17160897
nsv833972 CNV Loss 17160897
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)

Relevant External Links for TTI1 Gene

HapMap Linkage Disequilibrium report
TTI1
Human Gene Mutation Database (HGMD)
TTI1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTI1 Gene

Disorders for TTI1 Gene

Relevant External Links for TTI1

Genetic Association Database (GAD)
TTI1
Human Genome Epidemiology (HuGE) Navigator
TTI1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TTI1

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. (J. Biol. Chem. 2010) 2 3 4 67
  2. AAA+ proteins RUVBL1 and RUVBL2 coordinate PIKK activity and function in nonsense-mediated mRNA decay. (PMID: 20371770) Izumi N. … Ohno S. (Sci. Signal. 2010) 2 3
  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 Res. 1997) 2 3
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for TTI1 Gene

Sources for TTI1 Gene

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