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

    Gene ID: 55720, updated on 27-Nov-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, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 12.8), esophagus (RPKM 10.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TSR1 in Genome Data Viewer
    Location:
    17p13.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (2322396..2336457, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (2209736..2223794, complement)
    RS_2024_09 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. Association of TSR1 Variants and Spontaneous Coronary Artery Dissection. Sun Y, et al. J Am Coll Cardiol, 2019 Jul 16. PMID 31296287
    2. Studies of congenital cataract-related TSR1 mutation and its expression in the lens. Yu YJ, et al. Yi Chuan, 2020 Feb 20. PMID 32102773
    3. 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
    4. Visualizing late states of human 40S ribosomal subunit maturation. Ameismeier M, et al. Nature, 2018 Jun. PMID 29875412
    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 (134) 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)

    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
    		  

    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_2024_08

    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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