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    THNSL1 threonine synthase like 1 [ Homo sapiens (human) ]

    Gene ID: 79896, updated on 27-Nov-2024

    Summary

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    Official Symbol
    THNSL1provided by HGNC
    Official Full Name
    threonine synthase like 1provided by HGNC
    Primary source
    HGNC:HGNC:26160
    See related
    Ensembl:ENSG00000185875 MIM:611260; AllianceGenome:HGNC:26160
    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
    TSH1
    Summary
    Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in liver (RPKM 5.2), thyroid (RPKM 5.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See THNSL1 in Genome Data Viewer
    Location:
    10p12.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (24952364..25026664)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (24970612..25044892)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (25305541..25315593)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376456 Neighboring gene MPRA-validated peak910 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:25051766-25052318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3160 Neighboring gene phosphoribosyl transferase domain containing 1 Neighboring gene NFE2L2 motif-containing MPRA enhancer 245 Neighboring gene RN7SK pseudogene 241 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2229 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:25305216-25305978 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3162 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:25348855-25350054 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:25350646-25351845 Neighboring gene enkurin, TRPC channel interacting protein Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:25356859-25358058 Neighboring gene NANOG hESC enhancer GRCh37_chr10:25394727-25395330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2233 Neighboring gene long intergenic non-protein coding RNA 1516 Neighboring gene GPR158 antisense RNA 1 Neighboring gene G protein-coupled receptor 158 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:25542036-25542637 Neighboring gene RN7SK pseudogene 220

    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. A threonine synthase homolog from a mammalian genome. Donini S, et al. Biochem Biophys Res Commun, 2006 Dec 1. PMID 17034760
    2. Nsp2 has the potential to be a drug target revealed by global identification of SARS-CoV-2 Nsp2-interacting proteins. Zheng YX, et al. Acta Biochim Biophys Sin (Shanghai), 2021 Aug 31. PMID 34159380
    3. Targeting RICTOR Sensitizes SMAD4-Negative Colon Cancer to Irinotecan. Wong CK, et al. Mol Cancer Res, 2020 Mar. PMID 31932471, Free PMC Article
    4. Mitochondrial ClpP-Mediated Proteolysis Induces Selective Cancer Cell Lethality. Ishizawa J, et al. Cancer Cell, 2019 May 13. PMID 31056398, Free PMC Article
    5. A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. Richter R, et al. EMBO J, 2010 Mar 17. PMID 20186120, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22002

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    threonine synthase-like 1

    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_024838.5 → NP_079114.3  threonine synthase-like 1

      See identical proteins and their annotated locations for NP_079114.3

      Status: VALIDATED

      Source sequence(s)
      AK025655, AK125249, BX647989, DA496769
      Consensus CDS
      CCDS7147.1
      UniProtKB/Swiss-Prot
      B3KWL1, D3DRV3, Q5VV21, Q8IYQ7
      Related
      ENSP00000365534.4, ENST00000376356.5
      Conserved Domains (5) summary
      cd01560
      Location:230 → 733
      Thr-synth_2; Threonine synthase catalyzes the final step of threonine biosynthesis. The conversion of O-phosphohomoserine into threonine and inorganic phosphate is pyridoxal 5'-phosphate dependent. The Thr-synth_1 CD includes members from higher plants, cyanobacteria, ...
      PRK00131
      Location:56 → 223
      aroK; shikimate kinase; Reviewed
      PRK09225
      Location:231 → 739
      PRK09225; threonine synthase; Validated
      cd00464
      Location:57 → 211
      SK; Shikimate kinase (SK) is the fifth enzyme in the shikimate pathway, a seven-step biosynthetic pathway which converts erythrose-4-phosphate to chorismic acid, found in bacteria, fungi and plants. Chorismic acid is a important intermediate in the synthesis ...
      cl21455
      Location:14 → 78
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      24952364..25026664
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016665.2 → XP_016872154.1  threonine synthase-like 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KWL1, D3DRV3, Q5VV21, Q8IYQ7
      Conserved Domains (5) summary
      cd01560
      Location:230 → 733
      Thr-synth_2; Threonine synthase catalyzes the final step of threonine biosynthesis. The conversion of O-phosphohomoserine into threonine and inorganic phosphate is pyridoxal 5'-phosphate dependent. The Thr-synth_1 CD includes members from higher plants, cyanobacteria, ...
      PRK00131
      Location:56 → 223
      aroK; shikimate kinase; Reviewed
      PRK09225
      Location:231 → 739
      PRK09225; threonine synthase; Validated
      cd00464
      Location:57 → 211
      SK; Shikimate kinase (SK) is the fifth enzyme in the shikimate pathway, a seven-step biosynthetic pathway which converts erythrose-4-phosphate to chorismic acid, found in bacteria, fungi and plants. Chorismic acid is a important intermediate in the synthesis ...
      cl21455
      Location:14 → 78
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. XM_047425764.1 → XP_047281720.1  threonine synthase-like 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KWL1, D3DRV3, Q5VV21, Q8IYQ7

    3. XM_005252597.4 → XP_005252654.1  threonine synthase-like 1 isoform X1

      See identical proteins and their annotated locations for XP_005252654.1

      UniProtKB/Swiss-Prot
      B3KWL1, D3DRV3, Q5VV21, Q8IYQ7
      Related
      ENSP00000434887.1, ENST00000524413.5
      Conserved Domains (5) summary
      cd01560
      Location:230 → 733
      Thr-synth_2; Threonine synthase catalyzes the final step of threonine biosynthesis. The conversion of O-phosphohomoserine into threonine and inorganic phosphate is pyridoxal 5'-phosphate dependent. The Thr-synth_1 CD includes members from higher plants, cyanobacteria, ...
      PRK00131
      Location:56 → 223
      aroK; shikimate kinase; Reviewed
      PRK09225
      Location:231 → 739
      PRK09225; threonine synthase; Validated
      cd00464
      Location:57 → 211
      SK; Shikimate kinase (SK) is the fifth enzyme in the shikimate pathway, a seven-step biosynthetic pathway which converts erythrose-4-phosphate to chorismic acid, found in bacteria, fungi and plants. Chorismic acid is a important intermediate in the synthesis ...
      cl21455
      Location:14 → 78
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      24970612..25044892
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366762.1 → XP_054222737.1  threonine synthase-like 1 isoform X1

    2. XM_054366760.1 → XP_054222735.1  threonine synthase-like 1 isoform X1

    3. XM_054366761.1 → XP_054222736.1  threonine synthase-like 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IYQ7.2 GenPept UniProtKB/Swiss-Prot:Q8IYQ7

    Gene LinkOut

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