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Aliases for TRUB1 Gene

Aliases for TRUB1 Gene

  • TruB Pseudouridine Synthase Family Member 1 2 3 5
  • TruB Pseudouridine (Psi) Synthase Family Member 1 2 3
  • Probable TRNA Pseudouridine Synthase 1 2 3
  • PUS4 3 4
  • TruB Pseudouridine (Psi) Synthase Homolog 1 (E. Coli) 2
  • TruB Pseudouridine (Psi) Synthase Homolog 1 3
  • EC 5.4.99.- 4
  • EC 5.4.99 61

External Ids for TRUB1 Gene

Previous GeneCards Identifiers for TRUB1 Gene

  • GC10P115616
  • GC10P115941
  • GC10P116829
  • GC10P116362
  • GC10P116687
  • GC10P110325

Summaries for TRUB1 Gene

Entrez Gene Summary for TRUB1 Gene

  • Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008]

GeneCards Summary for TRUB1 Gene

TRUB1 (TruB Pseudouridine Synthase Family Member 1) is a Protein Coding gene. Diseases associated with TRUB1 include Dyskeratosis Congenita. GO annotations related to this gene include RNA binding and pseudouridine synthase activity. An important paralog of this gene is TRUB2.

UniProtKB/Swiss-Prot for TRUB1 Gene

  • May be responsible for synthesis of pseudouridine from uracil in transfer RNAs.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRUB1 Gene

Genomics for TRUB1 Gene

Regulatory Elements for TRUB1 Gene

Enhancers for TRUB1 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
GH10F114820 1.3 FANTOM5 ENCODE 6.5 -114.0 -114042 6.8 PKNOX1 SIN3A YY1 GLIS2 CBX5 ZNF143 FOS ZNF263 JUNB TBX21 FAM160B1 ATRNL1 TRUB1 RPL15P13
GH10F114854 0.9 Ensembl ENCODE 6.4 -81.8 -81816 3.6 JUN CEBPB MNT ZIC2 EP300 RFX5 JUND STAT3 FAM160B1 ATRNL1 ABLIM1 TRUB1 RPL15P13
GH10F114829 1 Ensembl ENCODE 5.5 -108.2 -108185 1.1 SCRT1 MTA2 ZNF740 NFIA ASH2L CHD1 PTRF CEBPB ZNF843 ZNF592 FAM160B1 ATRNL1 TRUB1 RPL15P13
GH10F114925 1.1 Ensembl ENCODE 4.8 -12.3 -12332 1.4 JUN INSM2 MAX FEZF1 EBF1 ZNF324 ZBTB48 ZNF366 EED FOS ATRNL1 TRUB1 GC10P114901
GH10F114917 0.8 FANTOM5 ENCODE 4.9 -19.9 -19877 1.7 JUND SCRT2 GLIS1 PRDM10 TRUB1 ATRNL1 GC10P114901
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TRUB1 on UCSC Golden Path with GeneCards custom track

Promoters for TRUB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001427468 707 2201 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 ZNF263

Genomic Location for TRUB1 Gene

Chromosome:
10
Start:
114,938,193 bp from pter
End:
114,977,680 bp from pter
Size:
39,488 bases
Orientation:
Plus strand

Genomic View for TRUB1 Gene

Genes around TRUB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRUB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRUB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRUB1 Gene

Proteins for TRUB1 Gene

  • Protein details for TRUB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WWH5-TRUB1_HUMAN
    Recommended name:
    Probable tRNA pseudouridine synthase 1
    Protein Accession:
    Q8WWH5
    Secondary Accessions:
    • B2R716
    • Q53ES2

    Protein attributes for TRUB1 Gene

    Size:
    349 amino acids
    Molecular mass:
    37253 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TRUB1 Gene

Selected DME Specific Peptides for TRUB1 Gene

Q8WWH5:
  • KPKGPTS
  • YIRSLVSDIGK
  • SALKKDG
  • GHGGTLD
  • LLNRLKEK

Post-translational modifications for TRUB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TRUB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for TRUB1 Gene

Suggested Antigen Peptide Sequences for TRUB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WWH5

UniProtKB/Swiss-Prot:

TRUB1_HUMAN :
  • Belongs to the pseudouridine synthase TruB family.
Family:
  • Belongs to the pseudouridine synthase TruB family.
genes like me logo Genes that share domains with TRUB1: view

No data available for Gene Families for TRUB1 Gene

Function for TRUB1 Gene

Molecular function for TRUB1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
tRNA uridine = tRNA pseudouridine.
UniProtKB/Swiss-Prot Function:
May be responsible for synthesis of pseudouridine from uracil in transfer RNAs.

Enzyme Numbers (IUBMB) for TRUB1 Gene

Gene Ontology (GO) - Molecular Function for TRUB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0009982 pseudouridine synthase activity IBA --
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with TRUB1: view
genes like me logo Genes that share phenotypes with TRUB1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for TRUB1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TRUB1 Gene

Localization for TRUB1 Gene

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 TRUB1 gene
Compartment Confidence
nucleus 3
cytoskeleton 2
cytosol 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for TRUB1 Gene

Pathways & Interactions for TRUB1 Gene

SuperPathways for TRUB1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TRUB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006396 RNA processing IEA --
GO:0006400 tRNA modification IBA --
GO:0008033 tRNA processing IEA --
GO:0009451 RNA modification IEA --
GO:1990481 mRNA pseudouridine synthesis IBA --
genes like me logo Genes that share ontologies with TRUB1: view

No data available for Pathways by source and SIGNOR curated interactions for TRUB1 Gene

Drugs & Compounds for TRUB1 Gene

(1) Additional Compounds for TRUB1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pseudouridine
  • 5-(b-D-Ribofuranosyl)uracil
  • 5-(b-delta-Ribofuranosyl)uracil
  • 5-b-D-Ribofuranosyl-Uracil
  • 5-beta-delta-Ribofuranosyl-Uracil
  • 5-Ribosyluracil
1445-07-4
genes like me logo Genes that share compounds with TRUB1: view

Transcripts for TRUB1 Gene

mRNA/cDNA for TRUB1 Gene

Unigene Clusters for TRUB1 Gene

TruB pseudouridine (psi) synthase homolog 1 (E. coli):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TRUB1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8
SP1: -
SP2: - -
SP3: - -
SP4:

Relevant External Links for TRUB1 Gene

GeneLoc Exon Structure for
TRUB1
ECgene alternative splicing isoforms for
TRUB1

Expression for TRUB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TRUB1 Gene

Protein differential expression in normal tissues from HIPED for TRUB1 Gene

This gene is overexpressed in Retina (27.0) and Cerebrospinal fluid (22.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TRUB1 Gene



Protein tissue co-expression partners for TRUB1 Gene

NURSA nuclear receptor signaling pathways regulating expression of TRUB1 Gene:

TRUB1

SOURCE GeneReport for Unigene cluster for TRUB1 Gene:

Hs.21187

mRNA Expression by UniProt/SwissProt for TRUB1 Gene:

Q8WWH5-TRUB1_HUMAN
Tissue specificity: Highly expressed in heart, skeletal muscle and liver. Expressed at lower levels in lung, small intestine, kidney and spleen.
genes like me logo Genes that share expression patterns with TRUB1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TRUB1 Gene

Orthologs for TRUB1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TRUB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TRUB1 34 35
  • 99.33 (n)
dog
(Canis familiaris)
Mammalia TRUB1 34 35
  • 91.76 (n)
cow
(Bos Taurus)
Mammalia TRUB1 34 35
  • 91.01 (n)
rat
(Rattus norvegicus)
Mammalia Trub1 34
  • 81.91 (n)
mouse
(Mus musculus)
Mammalia Trub1 34 16 35
  • 81.15 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TRUB1 35
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TRUB1 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves TRUB1 34 35
  • 76.54 (n)
lizard
(Anolis carolinensis)
Reptilia TRUB1 35
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia trub1 34
  • 63.78 (n)
Str.8216 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.15432 34
zebrafish
(Danio rerio)
Actinopterygii trub1 34 35
  • 64.25 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1341 34
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PUS4 35 37
  • 21 (a)
OneToMany
Species where no ortholog for TRUB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TRUB1 Gene

ENSEMBL:
Gene Tree for TRUB1 (if available)
TreeFam:
Gene Tree for TRUB1 (if available)

Paralogs for TRUB1 Gene

Paralogs for TRUB1 Gene

genes like me logo Genes that share paralogs with TRUB1: view

Variants for TRUB1 Gene

Sequence variations from dbSNP and Humsavar for TRUB1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs10047273 -- 114,946,748(+) AATGG(C/T)GCAGA intron-variant
rs10444099 -- 114,946,738(+) TTGCA(A/G)TATTA intron-variant
rs1045657 -- 114,977,226(+) TTAGA(A/T)TTTAA utr-variant-3-prime
rs10573201 -- 114,964,318(+) TTTTT(-/GT)TTTTT intron-variant
rs10588588 -- 114,936,418(+) AAAAA(-/AA)GACAC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for TRUB1 Gene

Variant ID Type Subtype PubMed ID
nsv831997 CNV gain 17160897
nsv831996 CNV gain 17160897
nsv7211 OTHER inversion 18451855
nsv1038050 CNV gain 25217958
esv3624628 CNV loss 21293372
esv3624626 CNV gain 21293372
esv3624625 CNV gain 21293372
esv3624624 CNV gain 21293372
esv3577749 CNV gain 25503493
esv2761634 CNV gain 21179565
esv2666688 CNV deletion 23128226
dgv977n100 CNV gain 25217958

Variation tolerance for TRUB1 Gene

Residual Variation Intolerance Score: 47.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.47; 91.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TRUB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRUB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRUB1 Gene

Disorders for TRUB1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TRUB1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
dyskeratosis congenita
  • zinsser-cole-engman syndrome
- elite association - COSMIC cancer census association via MalaCards
Search TRUB1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TRUB1

Genetic Association Database (GAD)
TRUB1
Human Genome Epidemiology (HuGE) Navigator
TRUB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TRUB1
genes like me logo Genes that share disorders with TRUB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TRUB1 Gene

Publications for TRUB1 Gene

  1. The human TruB family of pseudouridine synthase genes, including the Dyskeratosis Congenita 1 gene and the novel member TRUB1. (PMID: 12736709) Zucchini C. … Valvassori L. (Int. J. Mol. Med. 2003) 2 3 4 22 64
  2. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 64
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3 64

Products for TRUB1 Gene

Sources for TRUB1 Gene

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