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    TSR3 TSR3 ribosome maturation factor [ Homo sapiens (human) ]

    Gene ID: 115939, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TSR3provided by HGNC
    Official Full Name
    TSR3 ribosome maturation factorprovided by HGNC
    Primary source
    HGNC:HGNC:14175
    See related
    Ensembl:ENSG00000007520 MIM:617058; AllianceGenome:HGNC:14175
    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
    HsTsr3; C16orf42
    Summary
    Enables 18S rRNA aminocarboxypropyltransferase activity. Involved in enzyme-directed rRNA pseudouridine synthesis. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in fat (RPKM 23.3), kidney (RPKM 22.0) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See TSR3 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (1349240..1351878, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (1365417..1368055, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1399241..1401879, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6969 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:1360147-1360758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10219 Neighboring gene ubiquitin conjugating enzyme E2 I Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10220 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10221 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1382600-1382800 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6970 Neighboring gene ribosomal protein S20 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1388370-1389219 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1392110-1392658 Neighboring gene BAI1 associated protein 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6972 Neighboring gene N-acetylglucosamine-1-phosphate transferase subunit gamma Neighboring gene unk like zinc finger Neighboring gene tight junction protein 1 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. Ribosome biogenesis factor Tsr3 is the aminocarboxypropyl transferase responsible for 18S rRNA hypermodification in yeast and humans. Meyer B, et al. Nucleic Acids Res, 2016 May 19. PMID 27084949, Free PMC Article
    2. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. Daniels RJ, et al. Hum Mol Genet, 2001 Feb 15. PMID 11157797
    3. The sequence and analysis of duplication-rich human chromosome 16. Martin J, et al. Nature, 2004 Dec 23. PMID 15616553
    4. Identification of proteins that interact with alpha A-crystallin using a human proteome microarray. Fan Q, et al. Mol Vis, 2014. PMID 24453475, Free PMC Article
    5. The E3 ubiquitin ligase FBXL6 controls the quality of newly synthesized mitochondrial ribosomal proteins. Lavie J, et al. Cell Rep, 2023 Jun 27. PMID 37267103

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structurally, Tsr3 represents a novel class of acp transferase enzymes.
      Title: Ribosome biogenesis factor Tsr3 is the aminocarboxypropyl transferase responsible for 18S rRNA hypermodification in yeast and humans.
    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

    • MGC24381

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 18S rRNA aminocarboxypropyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables S-adenosyl-L-methionine binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transferase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in enzyme-directed rRNA pseudouridine synthesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in maturation of SSU-rRNA IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in rRNA modification TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    18S rRNA aminocarboxypropyltransferase
    Names
    20S S rRNA accumulation protein 3 homolog
    TSR3, 20S rRNA accumulation, homolog
    TSR3, acp transferase ribosome maturation factor
    probable ribosome biogenesis protein C16orf42
    ribosome biogenesis protein TSR3 homolog
    NP_001001410.1

    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_001001410.3 → NP_001001410.1  18S rRNA aminocarboxypropyltransferase

      See identical proteins and their annotated locations for NP_001001410.1

      Status: VALIDATED

      Source sequence(s)
      AL031709, BC016699, BC017325
      Consensus CDS
      CCDS10435.1
      UniProtKB/Swiss-Prot
      Q6PJT8, Q9UJK0
      Related
      ENSP00000007390.2, ENST00000007390.3
      Conserved Domains (3) summary
      PRK02287
      Location:65 → 223
      PRK02287; hypothetical protein; Provisional
      pfam04034
      Location:96 → 220
      DUF367; Domain of unknown function (DUF367)
      pfam04068
      Location:60 → 92
      RLI; Possible Fer4-like domain in RNase L inhibitor, RLI

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      1349240..1351878 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      1365417..1368055 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UJK0.1 GenPept UniProtKB/Swiss-Prot:Q9UJK0

    Gene LinkOut

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

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