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    TIPRL TOR signaling pathway regulator [ Homo sapiens (human) ]

    Gene ID: 261726, updated on 3-Nov-2024

    Summary

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    Official Symbol
    TIPRLprovided by HGNC
    Official Full Name
    TOR signaling pathway regulatorprovided by HGNC
    Primary source
    HGNC:HGNC:30231
    See related
    Ensembl:ENSG00000143155 MIM:611807; AllianceGenome:HGNC:30231
    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
    TIP; TIP41; TIPRL1
    Summary
    TIPRL is an inhibitory regulator of protein phosphatase-2A (PP2A) (see PPP2CA; MIM 176915), PP4 (see PPP4C; MIM 602035), and PP6 (see PPP6C; MIM 612725) (McConnell et al., 2007 [PubMed 17384681]).[supplied by OMIM, Nov 2010]
    Expression
    Ubiquitous expression in endometrium (RPKM 11.7), brain (RPKM 11.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TIPRL in Genome Data Viewer
    Location:
    1q24.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (168178962..168202109)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (167530459..167553616)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (168148200..168171347)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene DDB1 and CUL4 associated factor 6 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:168025104-168025604 Neighboring gene Sharpr-MPRA regulatory region 7850 Neighboring gene GCSH pseudogene 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:168054775-168055275 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:168065654-168066154 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:168066155-168066655 Neighboring gene G protein-coupled receptor 161 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1542 Neighboring gene Sharpr-MPRA regulatory region 11959 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:168147823-168148324 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:168163898-168164682 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:168166417-168166917 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:168177413-168178005 Neighboring gene cytochrome c oxidase subunit NDUFA4-like Neighboring gene ribosomal protein L34 pseudogene 1

    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. TIPRL, a Potential Double-edge Molecule to be Targeted and Re-targeted Toward Cancer. Gao J, et al. Cell Biochem Biophys, 2024 Sep. PMID 38888871
    2. USP9X deubiquitinates and stabilizes CDC123 to promote breast carcinogenesis through regulating cell cycle. Song N, et al. Mol Carcinog, 2023 Oct. PMID 37314216
    3. Genetic association and meta-analysis of a schizophrenia GWAS variant rs10489202 in East Asian populations. Yang Y, et al. Transl Psychiatry, 2018 Aug 7. PMID 30087317, Free PMC Article
    4. Inhibition of MKK7-JNK by the TOR signaling pathway regulator-like protein contributes to resistance of HCC cells to TRAIL-induced apoptosis. Song IS, et al. Gastroenterology, 2012 Nov. PMID 22841785
    5. The positive correlation of TIPRL with LC3 and CD133 contributes to cancer aggressiveness: potential biomarkers for early liver cancer. Jun SY, et al. Sci Rep, 2019 Nov 14. PMID 31727942, Free PMC Article

    See all (74) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TIPRL, a Potential Double-edge Molecule to be Targeted and Re-targeted Toward Cancer.
      Title: TIPRL, a Potential Double-edge Molecule to be Targeted and Re-targeted Toward Cancer.
    2. The positive correlation of TIPRL with LC3 and CD133 contributes to cancer aggressiveness: potential biomarkers for early liver cancer.
      Title: The positive correlation of TIPRL with LC3 and CD133 contributes to cancer aggressiveness: potential biomarkers for early liver cancer.
    3. TIPRL potentiates survival of lung cancer by inducing autophagy through the eIF2alpha-ATF4 pathway.
      Title: TIPRL potentiates survival of lung cancer by inducing autophagy through the eIF2α-ATF4 pathway.
    4. MPC2 rs10489202 was genome-wide significantly associated with schizophrenia. The expression quantitative trait loci analysis in lymphoblastoid cell lines from East Asian donors revealed that MPC2 rs10489202 was specifically and significantly associated with the expression of TIPRL gene.
      Title: Genetic association and meta-analysis of a schizophrenia GWAS variant rs10489202 in East Asian populations.
    5. overexpression of TIPRL promotes phosphorylation of H2AX, and increases gamma-H2AX positive foci in response to DNA damage, whereas knockdown of TIPRL inhibits gamma-H2AX phosphorylation
      Title: TIPRL Inhibits Protein Phosphatase 4 Activity and Promotes H2AX Phosphorylation in the DNA Damage Response.
    6. Unlike yeast TIP41, TIPRL has a positive effect on mTORC1 signaling through the association with PP2Ac.
      Title: A positive role of mammalian Tip41-like protein, TIPRL, in the amino-acid dependent mTORC1-signaling pathway through interaction with PP2A.
    7. Data indicate that PP2A holoenzyme biogenesis and activity are controlled by five PP2A modulators, consisting of alpha4, PTPA, LCMT1, PME-1 and TIPRL1, which serve to prevent promiscuous phosphatase activity until the holoenzyme is completely assembled.
      Title: The biogenesis of active protein phosphatase 2A holoenzymes: a tightly regulated process creating phosphatase specificity.
    8. TIPRL is highly up-regulated in human HCC samples and cell lines, compared with noncancerous liver tissues.
      Title: Inhibition of MKK7-JNK by the TOR signaling pathway regulator-like protein contributes to resistance of HCC cells to TRAIL-induced apoptosis.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.
    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

    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

    • MGC3794

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein phosphatase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA damage checkpoint signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in TOR signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    TIP41-like protein
    Names
    TIP41, TOR signaling pathway regulator-like
    putative MAPK-activating protein PM10
    type 2A-interacting protein

    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_001031800.3 → NP_001026970.1  TIP41-like protein isoform 2

      See identical proteins and their annotated locations for NP_001026970.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks several exons, and uses an alternate 3'-terminal exon, compared to variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK313520, BC009506
      Consensus CDS
      CCDS30935.1
      UniProtKB/Swiss-Prot
      O75663
      Related
      ENSP00000356804.3, ENST00000367830.3
      Conserved Domains (1) summary
      pfam04176
      Location:56 → 172
      TIP41; TIP41-like family

    2. NM_152902.5 → NP_690866.1  TIP41-like protein isoform 1

      See identical proteins and their annotated locations for NP_690866.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK313520, AL021397
      Consensus CDS
      CCDS1270.1
      UniProtKB/Swiss-Prot
      B2R8V3, O75663, Q5HYB2, Q8IZ86
      Related
      ENSP00000356807.2, ENST00000367833.7
      Conserved Domains (1) summary
      pfam04176
      Location:50 → 218
      TIP41; TIP41-like family

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      168178962..168202109
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      167530459..167553616
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75663.2 GenPept UniProtKB/Swiss-Prot:O75663

    Gene LinkOut

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

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