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Aliases for TSR1 Gene

Aliases for TSR1 Gene

  • TSR1, Ribosome Maturation Factor 2 3 5
  • TSR1, 20S RRNA Accumulation, Homolog (Yeast) 2
  • KIAA1401 4

External Ids for TSR1 Gene

Previous GeneCards Identifiers for TSR1 Gene

  • GC17M002173
  • GC17M002225

Summaries for TSR1 Gene

GeneCards Summary for TSR1 Gene

TSR1 (TSR1, Ribosome Maturation Factor) is a Protein Coding gene. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression. GO annotations related to this gene include poly(A) RNA binding.

UniProtKB/Swiss-Prot for TSR1 Gene

  • Required during maturation of the 40S ribosomal subunit in the nucleolus.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TSR1 Gene

Genomics for TSR1 Gene

Regulatory Elements for TSR1 Gene

Enhancers for TSR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F002261 1.5 FANTOM5 Ensembl ENCODE 20.7 +72.4 72418 7.3 TBP PKNOX1 TBL1XR1 WRNIP1 SIN3A KLF17 FEZF1 RAD21 ZNF2 ZBTB40 SRR TSR1 SMG6 LOC101927839 HIC1 OVCA2 ENSG00000236457 LOC105371487 SGSM2 SNORD91B
GH17F003048 1.6 FANTOM5 Ensembl ENCODE 15.3 -711.6 -711594 1.8 PKNOX1 ARID4B SIN3A GLI4 ZNF48 GLIS2 ZNF143 FOS CEBPZ SP3 TSR1 METTL16 SGSM2 ASPA PAFAH1B1 GC17P003059 PIR50205
GH17F001712 1.6 FANTOM5 ENCODE 15.3 +621.7 621733 7.0 MLX CREB3L1 YBX1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 SMYD4 RPA1 SERPINF2 TLCD2 METTL16 SERPINF1 TSR1 HIC1 GEMIN4 SMG6
GH17F002053 1.8 FANTOM5 Ensembl ENCODE 10 +274.1 274070 20.4 HDGF PKNOX1 WRNIP1 ARID4B SIN3A ZNF2 ZNF143 FOS ZNF263 SP3 DPH1 SMYD4 SRR METTL16 LOC101927839 HNRNPA1P16 LOC105371487 ENSG00000236457 RPA1 ENSG00000263345
GH17F002390 1.6 FANTOM5 ENCODE 10.7 -61.5 -61505 18.6 CREB3L1 MLX FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 METTL16 SMYD4 ENSG00000263345 SMG6 MNT EIF4A1P9 SAMD11P1 ENSG00000262869 OR1E3 OR1D2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TSR1 on UCSC Golden Path with GeneCards custom track

Promoters for TSR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001339052 407 3400 PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 ZNF207

Genomic Location for TSR1 Gene

Chromosome:
17
Start:
2,322,503 bp from pter
End:
2,337,507 bp from pter
Size:
15,005 bases
Orientation:
Minus strand

Genomic View for TSR1 Gene

Genes around TSR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TSR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TSR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TSR1 Gene

Proteins for TSR1 Gene

  • Protein details for TSR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2NL82-TSR1_HUMAN
    Recommended name:
    Pre-rRNA-processing protein TSR1 homolog
    Protein Accession:
    Q2NL82
    Secondary Accessions:
    • Q8WUY5
    • Q9NVT0
    • Q9P2E6

    Protein attributes for TSR1 Gene

    Size:
    804 amino acids
    Molecular mass:
    91810 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA91667.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA92639.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for TSR1 Gene

Post-translational modifications for TSR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TSR1 Gene

No data available for DME Specific Peptides for TSR1 Gene

Domains & Families for TSR1 Gene

Protein Domains for TSR1 Gene

Suggested Antigen Peptide Sequences for TSR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q2NL82

UniProtKB/Swiss-Prot:

TSR1_HUMAN :
  • Contains 1 Bms1-type G (guanine nucleotide-binding) domain.
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Bms1-like GTPase family. TSR1 subfamily.
Domain:
  • Contains 1 Bms1-type G (guanine nucleotide-binding) domain.
Family:
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Bms1-like GTPase family. TSR1 subfamily.
genes like me logo Genes that share domains with TSR1: view

No data available for Gene Families for TSR1 Gene

Function for TSR1 Gene

Molecular function for TSR1 Gene

UniProtKB/Swiss-Prot Function:
Required during maturation of the 40S ribosomal subunit in the nucleolus.

Gene Ontology (GO) - Molecular Function for TSR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IBA --
GO:0005525 GTP binding IBA --
GO:0034511 U3 snoRNA binding IBA --
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with TSR1: view
genes like me logo Genes that share phenotypes with TSR1: view

Animal Model Products

miRNA for TSR1 Gene

miRTarBase miRNAs that target TSR1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TSR1 Gene

Localization for TSR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TSR1 Gene

Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TSR1 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TSR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus ISS --
GO:0005829 cytosol TAS --
GO:0030688 preribosome, small subunit precursor IBA --
genes like me logo Genes that share ontologies with TSR1: view

Pathways & Interactions for TSR1 Gene

genes like me logo Genes that share pathways with TSR1: view

Gene Ontology (GO) - Biological Process for TSR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA --
GO:0000479 endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA --
GO:0006364 rRNA processing TAS --
GO:0042254 ribosome biogenesis IEA --
GO:0042255 ribosome assembly ISS --
genes like me logo Genes that share ontologies with TSR1: view

No data available for SIGNOR curated interactions for TSR1 Gene

Transcripts for TSR1 Gene

Unigene Clusters for TSR1 Gene

TSR1, 20S rRNA accumulation, homolog (S. cerevisiae):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TSR1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8: -
SP9:

Relevant External Links for TSR1 Gene

GeneLoc Exon Structure for
TSR1
ECgene alternative splicing isoforms for
TSR1

Expression for TSR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TSR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TSR1 Gene

This gene is overexpressed in Amniocyte (38.1), Bone marrow mesenchymal stem cell (11.9), and Breast (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TSR1 Gene



Protein tissue co-expression partners for TSR1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TSR1 Gene:

TSR1

SOURCE GeneReport for Unigene cluster for TSR1 Gene:

Hs.388170
genes like me logo Genes that share expression patterns with TSR1: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TSR1 Gene

Orthologs for TSR1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TSR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TSR1 34 35
  • 99.63 (n)
cow
(Bos Taurus)
Mammalia TSR1 34 35
  • 89.3 (n)
dog
(Canis familiaris)
Mammalia LOC610048 34
  • 89.14 (n)
-- 35
  • 89 (a)
OneToMany
-- 35
  • 88 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Tsr1 34 16 35
  • 84.58 (n)
rat
(Rattus norvegicus)
Mammalia Tsr1 34
  • 84.02 (n)
oppossum
(Monodelphis domestica)
Mammalia TSR1 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TSR1 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100857289 34
  • 69.97 (n)
TSR1 35
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TSR1 35
  • 55 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.8091 34
zebrafish
(Danio rerio)
Actinopterygii tsr1 34 35
  • 59.68 (n)
-- 34
fruit fly
(Drosophila melanogaster)
Insecta CG7338 34 35
  • 53.11 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009438 34
  • 51.32 (n)
worm
(Caenorhabditis elegans)
Secernentea tag-151 34 35
  • 50.9 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TSR1 34 35 37
  • 44.68 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E05149g 34
  • 44.52 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER051C 34
  • 44.02 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G42440 34
  • 49.93 (n)
rice
(Oryza sativa)
Liliopsida Os11g0298400 34
  • 48.58 (n)
Os.18832 34
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC23H4.15 34
  • 46.38 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01503 34
  • 46.32 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8014 35
  • 46 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4090 34
Species where no ortholog for TSR1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for TSR1 Gene

ENSEMBL:
Gene Tree for TSR1 (if available)
TreeFam:
Gene Tree for TSR1 (if available)

Paralogs for TSR1 Gene

Pseudogenes.org Pseudogenes for TSR1 Gene

genes like me logo Genes that share paralogs with TSR1: view

No data available for Paralogs for TSR1 Gene

Variants for TSR1 Gene

Sequence variations from dbSNP and Humsavar for TSR1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1061732 -- 2,324,023(-) GTTTT(C/T)CCACT utr-variant-3-prime
rs111475897 -- 2,331,536(+) CTCTC(G/T)TTACT intron-variant, upstream-variant-2KB
rs111661737 -- 2,338,176(+) GTGTC(A/G)TGCGG intron-variant, upstream-variant-2KB
rs111963625 -- 2,324,127(+) GCCCA(A/G)TCACA utr-variant-3-prime
rs111973646 -- 2,330,575(+) CACTC(A/G)ACCAC upstream-variant-2KB, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for TSR1 Gene

Variant ID Type Subtype PubMed ID
nsv1060897 CNV loss 25217958
nsv1067416 CNV loss 25217958
nsv469765 CNV loss 16826518
nsv574224 CNV gain 21841781
nsv833336 CNV loss 17160897

Variation tolerance for TSR1 Gene

Residual Variation Intolerance Score: 29.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.31; 85.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TSR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TSR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TSR1 Gene

Disorders for TSR1 Gene

Relevant External Links for TSR1

Genetic Association Database (GAD)
TSR1
Human Genome Epidemiology (HuGE) Navigator
TSR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TSR1

No disorders were found for TSR1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TSR1 Gene

Publications for TSR1 Gene

  1. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4 64
  2. Analysis of two human pre-ribosomal factors, bystin and hTsr1, highlights differences in evolution of ribosome biogenesis between yeast and mammals. (PMID: 20805244) Carron C. … Gleizes P.E. (Nucleic Acids Res. 2011) 2 3 64
  3. Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data. (PMID: 19584346) Vasan R.S. … Blankenberg S. (JAMA 2009) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3 64

Products for TSR1 Gene

Sources for TSR1 Gene

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