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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 56

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. Gene Ontology (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.

Additional gene information for TRUB1 Gene

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

Genomics for TRUB1 Gene

GeneHancer (GH) Regulatory Elements for TRUB1 Gene

Promoters and enhancers for TRUB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I114937 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.5 480 2.2 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 SP3 TRUB1 ATRNL1 FAM160B1 RNU6-1121P
GH10I114820 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.5 -114.0 -114041 6.8 PKNOX1 FOXA2 ARNT SIN3A IRF4 YY1 GLIS2 ZNF207 ZNF143 ATF7 FAM160B1 ATRNL1 TRUB1 ABLIM1 RPL15P13
GH10I114854 Enhancer 0.8 Ensembl ENCODE 6.4 -81.8 -81815 3.6 JUND POLR2A JUN STAT3 CEBPB FOSL2 EP300 RFX5 FAM160B1 ATRNL1 ABLIM1 TRUB1 RPL15P13
GH10I114747 Enhancer 1 Ensembl ENCODE dbSUPER 4 -189.1 -189078 2.4 MEIS2 PKNOX1 ZNF189 JUN TEAD4 TAL1 ZSCAN4 CEBPB CBFA2T3 HNF4A LOC101927692 TRUB1 PPIAP19 ABLIM1
GH10I114925 Enhancer 0.8 ENCODE 4.8 -12.3 -12332 1.4 INSM2 FEZF1 BATF ZNF366 FOS IKZF2 RUNX3 KLF13 YY2 JUNB ATRNL1 TRUB1 GC10P114901
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TRUB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TRUB1 gene promoter:

Genomic Locations for TRUB1 Gene

Genomic Locations for TRUB1 Gene
chr10:114,938,193-114,977,680
(GRCh38/hg38)
Size:
39,488 bases
Orientation:
Plus strand
chr10:116,697,952-116,737,439
(GRCh37/hg19)

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

No Post-translational modifications

Other Protein References for TRUB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for TRUB1 Gene

Gene Families for TRUB1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

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

Phenotypes From GWAS Catalog 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

CRISPR Products

Inhibitory RNA 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
mitochondrion 3
nucleus 3
cytoskeleton 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TRUB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA --
genes like me logo Genes that share ontologies with TRUB1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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:

CRISPR Products

Inhibitory RNA 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 CGAP 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.

Evidence on tissue expression from TISSUES for TRUB1 Gene

  • Spleen(4.2)
  • Nervous system(3.4)
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 , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.33 (n)
dog
(Canis familiaris)
Mammalia TRUB1 33 34
  • 91.76 (n)
cow
(Bos Taurus)
Mammalia TRUB1 33 34
  • 91.01 (n)
rat
(Rattus norvegicus)
Mammalia Trub1 33
  • 81.91 (n)
mouse
(Mus musculus)
Mammalia Trub1 33 16 34
  • 81.15 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TRUB1 34
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TRUB1 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves TRUB1 33 34
  • 76.54 (n)
lizard
(Anolis carolinensis)
Reptilia TRUB1 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia trub1 33
  • 63.78 (n)
Str.8216 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15432 33
zebrafish
(Danio rerio)
Actinopterygii trub1 33 34
  • 64.25 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1341 33
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PUS4 34 36
  • 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 Variation AA Info Type
rs1000069781 -- 114,943,894(+) T/C intron_variant
rs1000188759 -- 114,961,102(+) T/A intron_variant
rs1000491323 -- 114,967,699(+) T/C intron_variant
rs1000696970 -- 114,961,081(+) G/A intron_variant
rs1000702805 -- 114,954,076(+) T/C intron_variant

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

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

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)

Additional Variant Information 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

Additional Disease Information for TRUB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (International journal of molecular medicine 2003) 2 3 4 22 58
  2. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 44 58
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for TRUB1 Gene

Sources for TRUB1 Gene

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