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TTI1 TELO2 interacting protein 1 [ Homo sapiens (human) ]

Gene ID: 9675, updated on 11-Apr-2024

Summary

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Official Symbol
TTI1provided by HGNC
Official Full Name
TELO2 interacting protein 1provided by HGNC
Primary source
HGNC:HGNC:29029
See related
Ensembl:ENSG00000101407 MIM:614425; AllianceGenome:HGNC:29029
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NEDMIM; smg-10; KIAA0406
Summary
Involved in regulation of TOR signaling. Located in cytoplasm. Part of TORC1 complex and TORC2 complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 7.8), thyroid (RPKM 6.4) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
20q11.23
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (37983021..38033456, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (39707342..39757800, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (36611423..36661858, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36530829-36531792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36537707-36538207 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36542615-36543462 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36543463-36544310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36545629-36546130 Neighboring gene V-set and transmembrane domain containing 2 like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17852 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36568310-36568810 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36568811-36569311 Neighboring gene MPRA-validated peak4207 silencer Neighboring gene RN7SK pseudogene 185 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17853 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36661589-36662184 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36662185-36662780 Neighboring gene uncharacterized LOC124904898 Neighboring gene regulation of nuclear pre-mRNA domain containing 1B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17855 Neighboring gene uncharacterized LOC124904897

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly. Serey-Gaut M, et al. Am J Hum Genet, 2023 Mar 2. PMID 36724785, Free PMC Article
  2. TTI1 promotes non-small-cell lung cancer progression by regulating the mTOR signaling pathway. Zhang LX, et al. Cancer Sci, 2023 Mar. PMID 36403197, Free PMC Article
  3. Structure of the Human TELO2-TTI1-TTI2 Complex. Kim Y, et al. J Mol Biol, 2022 Jan 30. PMID 34838521
  4. A genetic screen identifies the Triple T complex required for DNA damage signaling and ATM and ATR stability. Hurov KE, et al. Genes Dev, 2010 Sep 1. PMID 20810650, Free PMC Article
  5. Tti1 and Tel2 are critical factors in mammalian target of rapamycin complex assembly. Kaizuka T, et al. J Biol Chem, 2010 Jun 25. PMID 20427287, Free PMC Article

See all (54) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TTI1 promotes non-small-cell lung cancer progression by regulating the mTOR signaling pathway.
    Title: TTI1 promotes non-small-cell lung cancer progression by regulating the mTOR signaling pathway.
  2. Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
    Title: Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
  3. Structure of the Human TELO2-TTI1-TTI2 Complex.
    Title: Structure of the Human TELO2-TTI1-TTI2 Complex.
  4. IP7, formed by IP6K2, binds CK2 to enhance its phosphorylation of the Tti1/Tel2 complex, thereby stabilizing DNA-PKcs and ATM. This process stimulates p53 phosphorylation at serine 15 to activate the cell death program.
    Title: Inositol pyrophosphates mediate the DNA-PK/ATM-p53 cell death pathway by regulating CK2 phosphorylation of Tti1/Tel2.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
  6. TTI1 and TTI2 protect cells from spontaneous DNA damage, and are required for the establishment of the intra-S and G2/M checkpoin
    Title: A genetic screen identifies the Triple T complex required for DNA damage signaling and ATM and ATR stability.
  7. Data show that that knockdown of either Tti1 or Tel2 causes disassembly of mTORC1 and mTORC2.
    Title: Tti1 and Tel2 are critical factors in mammalian target of rapamycin complex assembly.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Neurodevelopmental disorder with microcephaly and movement abnormalities
MedGen: C5830624 OMIM: 620445 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ38132, KIAA0406

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in positive regulation of DNA damage checkpoint IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of DNA damage checkpoint NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in protein stabilization NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of TOR signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of TORC1 complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of TORC1 complex IMP
Inferred from Mutant Phenotype
more info
 PubMed 
part_of TORC2 complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of TORC2 complex IMP
Inferred from Mutant Phenotype
more info
 PubMed 
part_of TTT Hsp90 cochaperone complex IPI
Inferred from Physical Interaction
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
TELO2-interacting protein 1 homolog
Names
TEL2-interacting protein 1 homolog
Tel two interacting protein 1
smg-10 homolog, nonsense mediated mRNA decay factor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001303457.2 → NP_001290386.1  TELO2-interacting protein 1 homolog

    See identical proteins and their annotated locations for NP_001290386.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    BC013755, BU684997, DA652320
    Consensus CDS
    CCDS13300.1
    UniProtKB/Swiss-Prot
    D6W4K3, O43156, Q5JX67, Q96A38, Q9BR47, Q9H4K0
    Related
    ENSP00000362546.3, ENST00000373447.8

  2. NM_014657.3 → NP_055472.1  TELO2-interacting protein 1 homolog

    See identical proteins and their annotated locations for NP_055472.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    BC013121, BU684997, DA652320
    Consensus CDS
    CCDS13300.1
    UniProtKB/Swiss-Prot
    D6W4K3, O43156, Q5JX67, Q96A38, Q9BR47, Q9H4K0
    Related
    ENSP00000362547.2, ENST00000373448.6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    37983021..38033456 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047440606.1 → XP_047296562.1  TELO2-interacting protein 1 homolog isoform X1

    UniProtKB/Swiss-Prot
    D6W4K3, O43156, Q5JX67, Q96A38, Q9BR47, Q9H4K0

  2. XM_017028148.3 → XP_016883637.1  TELO2-interacting protein 1 homolog isoform X2

  3. XM_011529114.3 → XP_011527416.1  TELO2-interacting protein 1 homolog isoform X3

    See identical proteins and their annotated locations for XP_011527416.1

    UniProtKB/TrEMBL
    Q3B768

  4. XM_047440607.1 → XP_047296563.1  TELO2-interacting protein 1 homolog isoform X3

  5. XM_047440608.1 → XP_047296564.1  TELO2-interacting protein 1 homolog isoform X3

  6. XM_047440609.1 → XP_047296565.1  TELO2-interacting protein 1 homolog isoform X4

  7. XM_047440610.1 → XP_047296566.1  TELO2-interacting protein 1 homolog isoform X4

RNA

  1. XR_001754440.3 RNA Sequence

  2. XR_007067483.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    39707342..39757800 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054324254.1 → XP_054180229.1  TELO2-interacting protein 1 homolog isoform X1

    UniProtKB/Swiss-Prot
    D6W4K3, O43156, Q5JX67, Q96A38, Q9BR47, Q9H4K0

  2. XM_054324255.1 → XP_054180230.1  TELO2-interacting protein 1 homolog isoform X2

  3. XM_054324258.1 → XP_054180233.1  TELO2-interacting protein 1 homolog isoform X3

  4. XM_054324256.1 → XP_054180231.1  TELO2-interacting protein 1 homolog isoform X3

  5. XM_054324257.1 → XP_054180232.1  TELO2-interacting protein 1 homolog isoform X3

  6. XM_054324259.1 → XP_054180234.1  TELO2-interacting protein 1 homolog isoform X4

  7. XM_054324260.1 → XP_054180235.1  TELO2-interacting protein 1 homolog isoform X4

RNA

  1. XR_008485317.1 RNA Sequence

  2. XR_008485318.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43156.3 GenPept UniProtKB/Swiss-Prot:O43156

Gene LinkOut

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