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

    Gene ID: 9675, updated on 29-Oct-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 positive regulation of DNA damage checkpoint and regulation of TOR signaling. Located in cytoplasm. Part of TORC1 complex; TORC2 complex; and TTT Hsp90 cochaperone complex. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in testis (RPKM 7.8), thyroid (RPKM 6.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TTI1 in Genome Data Viewer
    Location:
    20q11.23
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (37983021..38033456, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (39707342..39757800, complement)
    RS_2024_09 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 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. ALKBH5 promotes hepatocellular carcinoma cell proliferation, migration and invasion by regulating TTI1 expression. Chang Q, et al. Biomol Biomed, 2024 Sep 6. PMID 38501918, Free PMC Article
    4. Structure of the Human TELO2-TTI1-TTI2 Complex. Kim Y, et al. J Mol Biol, 2022 Jan 30. PMID 34838521
    5. 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

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ALKBH5 promotes hepatocellular carcinoma cell proliferation, migration and invasion by regulating TTI1 expression.
      Title: ALKBH5 promotes hepatocellular carcinoma cell proliferation, migration and invasion by regulating TTI1 expression.
    2. 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.
    3. 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.
    4. Structure of the Human TELO2-TTI1-TTI2 Complex.
      Title: Structure of the Human TELO2-TTI1-TTI2 Complex.
    5. 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.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    7. 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.
    8. 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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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