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

Gene ID: 115939, updated on 2-Nov-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, Nov 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

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