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Aliases for TBL3 Gene

Aliases for TBL3 Gene

  • Transducin Beta Like 3 2 3 5
  • WD Repeat-Containing Protein SAZD 3 4
  • SAZD 3 4
  • Transducin Beta-Like Protein 3 3
  • Transducin (Beta)-Like 3 2
  • WD-Repeat Protein SAZD 3
  • UTP13 3

External Ids for TBL3 Gene

Previous GeneCards Identifiers for TBL3 Gene

  • GC16P002039
  • GC16P001962
  • GC16P002022
  • GC16P001946
  • GC16P001973
  • GC16P001980
  • GC16P001987

Summaries for TBL3 Gene

Entrez Gene Summary for TBL3 Gene

  • The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene has multiple polyadenylation sites. It might have multiple alternatively spliced transcript variants but the variants have not been fully described yet. [provided by RefSeq, Jul 2008]

GeneCards Summary for TBL3 Gene

TBL3 (Transducin Beta Like 3) is a Protein Coding gene. Among its related pathways are rRNA processing and Gene Expression. GO annotations related to this gene include poly(A) RNA binding and snoRNA binding. An important paralog of this gene is ATG16L1.

Gene Wiki entry for TBL3 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBL3 Gene

Genomics for TBL3 Gene

Regulatory Elements for TBL3 Gene

Enhancers for TBL3 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around TBL3 on UCSC Golden Path with GeneCards custom track

Promoters for TBL3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TBL3 on UCSC Golden Path with GeneCards custom track

Genomic Location for TBL3 Gene

Chromosome:
16
Start:
1,972,037 bp from pter
End:
1,982,933 bp from pter
Size:
10,897 bases
Orientation:
Plus strand

Genomic View for TBL3 Gene

Genes around TBL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBL3 Gene

Proteins for TBL3 Gene

  • Protein details for TBL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12788-TBL3_HUMAN
    Recommended name:
    Transducin beta-like protein 3
    Protein Accession:
    Q12788
    Secondary Accessions:
    • Q59GD6
    • Q8IVB7
    • Q96A78

    Protein attributes for TBL3 Gene

    Size:
    808 amino acids
    Molecular mass:
    89035 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA18945.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=BAD92410.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for TBL3 Gene

Post-translational modifications for TBL3 Gene

  • Ubiquitination at Lys 328, Lys 453, Lys 458, Lys 593, Lys 633, and Lys 664
  • Modification sites at PhosphoSitePlus

Other Protein References for TBL3 Gene

No data available for DME Specific Peptides for TBL3 Gene

Domains & Families for TBL3 Gene

Gene Families for TBL3 Gene

Suggested Antigen Peptide Sequences for TBL3 Gene

Graphical View of Domain Structure for InterPro Entry

Q12788

UniProtKB/Swiss-Prot:

TBL3_HUMAN :
  • Contains 13 WD repeats.
Similarity:
  • Contains 13 WD repeats.
genes like me logo Genes that share domains with TBL3: view

Function for TBL3 Gene

Molecular function for TBL3 Gene

GENATLAS Biochemistry:
transducin (beta)-like 3,located in the region of but not mutated in PKD1

Gene Ontology (GO) - Molecular Function for TBL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0030515 snoRNA binding IBA --
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with TBL3: view
genes like me logo Genes that share phenotypes with TBL3: view

Animal Model Products

CRISPR Products

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 TBL3 Gene

Localization for TBL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBL3 Gene

Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBL3 Gene COMPARTMENTS Subcellular localization image for TBL3 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TBL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA --
GO:0032040 small-subunit processome IBA --
GO:0034388 Pwp2p-containing subcomplex of 90S preribosome IBA --
genes like me logo Genes that share ontologies with TBL3: view

Pathways & Interactions for TBL3 Gene

genes like me logo Genes that share pathways with TBL3: view

Pathways by source for TBL3 Gene

Gene Ontology (GO) - Biological Process for TBL3 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:0006364 rRNA processing TAS --
genes like me logo Genes that share ontologies with TBL3: view

No data available for SIGNOR curated interactions for TBL3 Gene

Drugs & Compounds for TBL3 Gene

No Compound Related Data Available

Transcripts for TBL3 Gene

Unigene Clusters for TBL3 Gene

Transducin (beta)-like 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBL3 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^
SP1:
SP2:
SP3: - - -
SP4:
SP5:
SP6:

ExUns: 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for TBL3 Gene

GeneLoc Exon Structure for
TBL3
ECgene alternative splicing isoforms for
TBL3

Expression for TBL3 Gene

mRNA expression in normal human tissues for TBL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TBL3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (26.4) and CD8 Tcells (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TBL3 Gene



Protein tissue co-expression partners for TBL3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TBL3 Gene:

TBL3

SOURCE GeneReport for Unigene cluster for TBL3 Gene:

Hs.513267
genes like me logo Genes that share expression patterns with TBL3: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TBL3 Gene

Orthologs for TBL3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TBL3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TBL3 34
  • 88.5 (n)
  • 89.71 (a)
TBL3 35
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBL3 34
  • 86.44 (n)
  • 89.17 (a)
TBL3 35
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbl3 34
  • 83.61 (n)
  • 89.71 (a)
Tbl3 16
Tbl3 35
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TBL3 34
  • 98.31 (n)
  • 98.51 (a)
TBL3 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbl3 34
  • 82.98 (n)
  • 89.46 (a)
oppossum
(Monodelphis domestica)
Mammalia TBL3 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBL3 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBL3 34
  • 67.22 (n)
  • 66.08 (a)
TBL3 35
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 59 (a)
OneToMany
-- 35
  • 54 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.9646 34
tbl3 34
  • 65.07 (n)
  • 64.02 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC69179 34
zebrafish
(Danio rerio)
Actinopterygii tbl3 34
  • 66.06 (n)
  • 59.69 (a)
wufc08g06 34
tbl3 35
  • 47 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1671 36
  • 31 (a)
CG1671 34
  • 49.29 (n)
  • 34.85 (a)
CG1671 35
  • 31 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009615 34
  • 51.62 (n)
  • 40.16 (a)
worm
(Caenorhabditis elegans)
Secernentea Y53C12B.1 36
  • 31 (a)
Y53C12B.1 34
  • 41.56 (n)
  • 33.11 (a)
Y53C12B.1 35
  • 28 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR180W 34
  • 42.76 (n)
  • 32.76 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F13244g 34
  • 42.25 (n)
  • 34.35 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UTP13 35
  • 28 (a)
OneToMany
UTP13 37
UTP13 34
  • 41.11 (n)
  • 33.02 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons TOZ 34
  • 45.6 (n)
  • 37.44 (a)
rice
(Oryza sativa)
Liliopsida Os04g0592700 34
  • 48.16 (n)
  • 40.73 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03628 34
  • 46.92 (n)
  • 34.34 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes utp13 34
  • 42.26 (n)
  • 36.14 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4453 34
Species where no ortholog for TBL3 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)
  • wheat (Triticum aestivum)

Evolution for TBL3 Gene

ENSEMBL:
Gene Tree for TBL3 (if available)
TreeFam:
Gene Tree for TBL3 (if available)

Paralogs for TBL3 Gene

Paralogs for TBL3 Gene

(5) SIMAP similar genes for TBL3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with TBL3: view

Variants for TBL3 Gene

Sequence variations from dbSNP and Humsavar for TBL3 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs17605 - 1,976,890(+) TGCTG(C/T)CCAAG reference, missense
rs2230086 - 1,975,601(+) TGGGC(A/G)GGAGC reference, missense
rs8052713 - 1,975,603(+) GGCAG(C/G)AGCTG reference, missense
rs3743849 -- 1,974,701(-) CGACC(A/C/T)ACCTG intron-variant
rs3743850 -- 1,974,354(-) TGTGC(A/C/T)GAGCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TBL3 Gene

Variant ID Type Subtype PubMed ID
dgv336n27 CNV loss 19166990
dgv4858n54 CNV loss 21841781
dgv4859n54 CNV loss 21841781
dgv4860n54 CNV loss 21841781
esv2422427 CNV duplication 17116639
nsv1160329 CNV deletion 26073780
nsv471070 CNV gain 18288195
nsv471072 CNV loss 18288195
nsv521569 CNV loss 19592680
nsv523037 CNV loss 19592680
nsv571179 CNV loss 21841781
nsv833120 CNV loss 17160897
nsv952901 CNV deletion 24416366

Variation tolerance for TBL3 Gene

Residual Variation Intolerance Score: 88.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.65; 78.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBL3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBL3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBL3 Gene

Disorders for TBL3 Gene

Relevant External Links for TBL3

Genetic Association Database (GAD)
TBL3
Human Genome Epidemiology (HuGE) Navigator
TBL3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBL3

No disorders were found for TBL3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBL3 Gene

Publications for TBL3 Gene

  1. A transducin-like gene maps to the autosomal dominant polycystic kidney disease gene region. (PMID: 8307582) Weinstat-Saslow D.L. … Reeders S.T. (Genomics 1993) 2 3 4 22 65
  2. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T. … Yamada Y. (Int. J. Mol. Med. 2010) 3 46 65
  3. Association of gene polymorphisms with chronic kidney disease in Japanese individuals. (PMID: 19724895) Yoshida T. … Yamada Y. (Int. J. Mol. Med. 2009) 3 46 65
  4. Functional proteomic analysis of human nucleolus. (PMID: 12429849) Scherl A. … Diaz J.-J. (Mol. Biol. Cell 2002) 3 4 65
  5. Interactions of the Antiviral Factor Interferon Gamma-Inducible Protein 16 (IFI16) Mediate Immune Signaling and Herpes Simplex Virus-1 Immunosuppression. (PMID: 25693804) Diner B.A. … Cristea I.M. (Mol. Cell Proteomics 2015) 3 65

Products for TBL3 Gene

Sources for TBL3 Gene

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