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TSR1 TSR1 ribosome maturation factor [ Homo sapiens (human) ]

Gene ID: 55720, updated on 5-Mar-2024

Summary

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Official Symbol
TSR1provided by HGNC
Official Full Name
TSR1 ribosome maturation factorprovided by HGNC
Primary source
HGNC:HGNC:25542
See related
Ensembl:ENSG00000167721 MIM:611214; AllianceGenome:HGNC:25542
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
Summary
Enables RNA binding activity. Predicted to be involved in endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) and maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Predicted to be located in nucleolus. Predicted to be part of preribosome, small subunit precursor. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 12.8), esophagus (RPKM 10.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
17p13.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (2322396..2336457, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (2209736..2223794, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (2225690..2239751, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene SMG6 nonsense mediated mRNA decay factor Neighboring gene uncharacterized LOC101927839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11480 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11485 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11487 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11489 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2205337-2206151 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:2206481-2207207 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 16 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11490 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7990 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7991 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7992 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7993 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7994 Neighboring gene serine racemase Neighboring gene small nucleolar RNA, C/D box 91B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2251000-2251937 Neighboring gene small nucleolar RNA, C/D box 91A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11491 Neighboring gene uncharacterized LOC101927864 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2272684-2273268 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2273269-2273851 Neighboring gene small G protein signaling modulator 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2273852-2274435 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11492 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2289277-2290101 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2291629-2292130 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:2296137-2296704 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:2296705-2297271 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2301897-2302468 Neighboring gene hESC enhancers GRCh37_chr17:2302469-2303038 and GRCh37_chr17:2303039-2303609 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8000 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8001 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8002 Neighboring gene MAX network transcriptional repressor

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. Studies of congenital cataract-related TSR1 mutation and its expression in the lens. Yu YJ, et al. Yi Chuan, 2020 Feb 20. PMID 32102773
  2. Association of TSR1 Variants and Spontaneous Coronary Artery Dissection. Sun Y, et al. J Am Coll Cardiol, 2019 Jul 16. PMID 31296287
  3. Visualizing late states of human 40S ribosomal subunit maturation. Ameismeier M, et al. Nature, 2018 Jun. PMID 29875412
  4. Analysis of two human pre-ribosomal factors, bystin and hTsr1, highlights differences in evolution of ribosome biogenesis between yeast and mammals. Carron C, et al. Nucleic Acids Res, 2011 Jan. PMID 20805244, Free PMC Article
  5. Human type II receptor for bone morphogenic proteins (BMPs): extension of the two-kinase receptor model to the BMPs. Liu F, et al. Mol Cell Biol, 1995 Jul. PMID 7791754, Free PMC Article

See all (115) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. This study describes the clinical characteristics of the Chinese Han population with Spontaneous Coronary Artery Dissection and identified TSR1 as a potential causal gene, which might bring about a further progress in diagnosis and treatment of the disorder.
    Title: Association of TSR1 Variants and Spontaneous Coronary Artery Dissection.
  2. a novel congenital cataract candidate gene TSR1 was identified by whole genome sequencing and Sanger sequencing in a Chinese congenital cataract family
    Title: Studies of congenital cataract-related TSR1 mutation and its expression in the lens.
  3. hTsr1 is involved downstream in nuclear export of the pre-40S particles.
    Title: Analysis of two human pre-ribosomal factors, bystin and hTsr1, highlights differences in evolution of ribosome biogenesis between yeast and mammals.
  4. Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
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

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
EBI GWAS Catalog

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

  • FLJ10534, KIAA1401, MGC131829

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA binding HDA PubMed 
enables U3 snoRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleolus ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
part_of preribosome, small subunit precursor IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
pre-rRNA-processing protein TSR1 homolog

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_018128.5 → NP_060598.3  pre-rRNA-processing protein TSR1 homolog

    See identical proteins and their annotated locations for NP_060598.3

    Status: VALIDATED

    Source sequence(s)
    AL450226
    Consensus CDS
    CCDS32525.1
    UniProtKB/Swiss-Prot
    Q2NL82, Q8WUY5, Q9NVT0, Q9P2E6
    Related
    ENSP00000301364.4, ENST00000301364.10
    Conserved Domains (2) summary
    COG5177
    Location:1 → 775
    COG5177; Uncharacterized conserved protein [Function unknown]
    pfam04950
    Location:488 → 775
    RIBIOP_C; 40S ribosome biogenesis protein Tsr1 and BMS1 C-terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    2322396..2336457 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    2209736..2223794 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q2NL82.1 GenPept UniProtKB/Swiss-Prot:Q2NL82

Gene LinkOut

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

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