Human Gene TTI1 (ENST00000373447.8_7) from GENCODE V47lift37
  Description: TELO2 interacting protein 1, transcript variant 2 (from RefSeq NM_001303457.2)
Gencode Transcript: ENST00000373447.8_7
Gencode Gene: ENSG00000101407.13_9
Transcript (Including UTRs)
   Position: hg19 chr20:36,611,423-36,661,858 Size: 50,436 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr20:36,611,858-36,642,218 Size: 30,361 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:36,611,423-36,661,858)mRNA (may differ from genome)Protein (1089 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMGIOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TTI1_HUMAN
DESCRIPTION: RecName: Full=TELO2-interacting protein 1 homolog; AltName: Full=Protein SMG10;
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.
SUBUNIT: Component of the TTT complex composed of TELO2, TTI1 and TTI2. Interacts with ATM, ATR, MTOR, PRKDC, SMG1, TELO2, TRRAP AND TTI2.
INTERACTION: Q13315:ATM; NbExp=5; IntAct=EBI-1055680, EBI-495465; Q13535:ATR; NbExp=2; IntAct=EBI-1055680, EBI-968983; Q9Y4R8:TELO2; NbExp=7; IntAct=EBI-1055680, EBI-1043674;
TISSUE SPECIFICITY: Widely expressed.
SIMILARITY: Belongs to the tti1 family.
SEQUENCE CAUTION: Sequence=BAA23702.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.48 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 287.04 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -33.6094-0.357 Picture PostScript Text
3' UTR -114.00435-0.262 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR016441 - UCP005250

SCOP Domains:
48371 - ARM repeat
48431 - Lipovitellin-phosvitin complex, superhelical domain
48464 - ENTH/VHS domain

ModBase Predicted Comparative 3D Structure on O43156
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0032006 regulation of TOR signaling

Cellular Component:
GO:0005737 cytoplasm
GO:0031931 TORC1 complex
GO:0031932 TORC2 complex


-  Descriptions from all associated GenBank mRNAs
  BC013121 - Homo sapiens KIAA0406, mRNA (cDNA clone MGC:5207 IMAGE:2901089), complete cds.
AB007866 - Homo sapiens KIAA0406 mRNA for KIAA0406 protein.
BC013755 - Homo sapiens KIAA0406, mRNA (cDNA clone MGC:21430 IMAGE:4510329), complete cds.
AK095451 - Homo sapiens cDNA FLJ38132 fis, clone D9OST2000031.
JD050226 - Sequence 31250 from Patent EP1572962.
AK308164 - Homo sapiens cDNA, FLJ98112.
JD390314 - Sequence 371338 from Patent EP1572962.
JF432333 - Synthetic construct Homo sapiens clone IMAGE:100073520 KIAA0406 (KIAA0406) gene, encodes complete protein.
KJ892831 - Synthetic construct Homo sapiens clone ccsbBroadEn_02225 TTI1 gene, encodes complete protein.
AB384475 - Synthetic construct DNA, clone: pF1KA0406, Homo sapiens KIAA0406 gene for KIAA0406 protein, complete cds, without stop codon, in Flexi system.
BC131759 - Homo sapiens KIAA0406, mRNA (cDNA clone IMAGE:40120151), partial cds.
BC107778 - Homo sapiens KIAA0406, mRNA (cDNA clone IMAGE:6496780), partial cds.
CU680516 - Synthetic construct Homo sapiens gateway clone IMAGE:100020488 5' read KIAA0406 mRNA.
JD175409 - Sequence 156433 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: D6W4K3, ENST00000373447.1, ENST00000373447.2, ENST00000373447.3, ENST00000373447.4, ENST00000373447.5, ENST00000373447.6, ENST00000373447.7, KIAA0406, NM_001303457, O43156, Q5JX67, Q96A38, Q9BR47, Q9H4K0, SMG10, TTI1_HUMAN, uc318ktr.1, uc318ktr.2
UCSC ID: ENST00000373447.8_7
RefSeq Accession: NM_001303457.2
Protein: O43156 (aka TTI1_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.