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, vesi... See more...

Aliases for TBL3 Gene

Aliases for TBL3 Gene

  • Transducin Beta Like 3 2 3 5
  • WD Repeat-Containing Protein SAZD 3 4
  • Transducin Beta-Like Protein 3 3 4
  • SAZD 3 4
  • 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
  • GC16P002265
  • GC16P002301
  • GC16P001987
  • GC16P001994
  • GC16P002000
  • GC16P002109
  • GC16P002110
  • GC16P002137
  • GC16P002193
  • GC16P002210

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. Diseases associated with TBL3 include Autosomal Dominant Polycystic Kidney Disease. Among its related pathways are Gene Expression and rRNA processing in the nucleus and cytosol. Gene Ontology (GO) annotations related to this gene include snoRNA binding. An important paralog of this gene is GNB1L.

Gene Wiki entry for TBL3 Gene

Additional gene information for TBL3 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBL3 Gene

Genomics for TBL3 Gene

GeneHancer (GH) Regulatory Elements for TBL3 Gene

Promoters and enhancers for TBL3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBL3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TBL3 gene promoter:
  • AP-4
  • c-Ets-1
  • MAZR
  • NF-1
  • NF-1/L
  • NF-kappaB1
  • Pax-5
  • SRF
  • SRF (504 AA)

Genomic Locations for TBL3 Gene

Genomic Locations for TBL3 Gene
chr16:1,972,037-1,982,933
(GRCh38/hg38)
Size:
10,897 bases
Orientation:
Plus strand
chr16:2,022,038-2,032,934
(GRCh37/hg19)
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 Lys328, Lys453, Lys458, Lys593, Lys633, and Lys664
  • 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

GenScript: Design optimal peptide antigens:
  • TBL3 protein (A0JLS5_HUMAN)
  • WD repeat-containing protein SAZD (TBL3_HUMAN)
genes like me logo Genes that share domains with TBL3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TBL3 Gene

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

Phenotypes From GWAS Catalog for TBL3 Gene

Gene Ontology (GO) - Molecular Function for TBL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI,IEA 16189514
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBL3

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
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 TBL3 gene
Compartment Confidence
nucleus 5
cytosol 1
mitochondrion 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

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 IEA,IBA 21873635
GO:0034388 Pwp2p-containing subcomplex of 90S preribosome IBA 21873635
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

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 21873635
GO:0006364 rRNA processing TAS,IEA --
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

mRNA/cDNA for TBL3 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBL3

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, 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

Evidence on tissue expression from TISSUES for TBL3 Gene

  • Nervous system(4.6)
  • Lung(4.3)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with TBL3: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia TBL3 33 32
  • 98.31 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TBL3 33 32
  • 88.5 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TBL3 33 32
  • 86.44 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tbl3 17 33 32
  • 83.61 (n)
rat
(Rattus norvegicus)
Mammalia Tbl3 32
  • 82.98 (n)
oppossum
(Monodelphis domestica)
Mammalia TBL3 33
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBL3 33
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBL3 33 32
  • 67.22 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 59 (a)
OneToMany
-- 33
  • 54 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tbl3 32
  • 65.07 (n)
Str.9646 32
African clawed frog
(Xenopus laevis)
Amphibia MGC69179 32
zebrafish
(Danio rerio)
Actinopterygii tbl3 33 32
  • 66.06 (n)
OneToOne
wufc08g06 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009615 32
  • 51.62 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1671 33 34 32
  • 49.29 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y53C12B.1 33 34 32
  • 41.56 (n)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR180W 32
  • 42.76 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F13244g 32
  • 42.25 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UTP13 35 33 32
  • 41.11 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons TOZ 32
  • 45.6 (n)
rice
(Oryza sativa)
Liliopsida Os04g0592700 32
  • 48.16 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03628 32
  • 46.92 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes utp13 32
  • 42.26 (n)
sea squirt
(Ciona savignyi)
Ascidiacea Cin.4453 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4453 32
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)
Aminode:
Evolutionary constrained regions (ECRs) for TBL3: view image

Paralogs for TBL3 Gene

Paralogs for TBL3 Gene

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

  • TBL3_HUMAN
  • A0JLS5_HUMAN
  • H3BN88_HUMAN
  • J3KNP2_HUMAN
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 Variation AA Info Type
rs1000316832 -- 1,970,698(+) G/A upstream_transcript_variant
rs1000429083 -- 1,975,255(+) T/C coding_sequence_variant, missense_variant
rs1000521284 -- 1,982,785(+) C/T 3_prime_UTR_variant
rs1000621875 -- 1,971,176(+) A/G upstream_transcript_variant
rs1000667225 -- 1,970,909(+) T/G upstream_transcript_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)

Additional Variant Information for TBL3 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for TBL3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TBL3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
autosomal dominant polycystic kidney disease
  • adpkd
- elite association - COSMIC cancer census association via MalaCards
Search TBL3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TBL3

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 TBL3: view

No data available for 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 DL … Reeders ST (Genomics 1993) 2 3 4 23 56
  2. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 43 56
  3. Association of gene polymorphisms with chronic kidney disease in Japanese individuals. (PMID: 19724895) Yoshida T … Yamada Y (International journal of molecular medicine 2009) 3 43 56
  4. Functional proteomic analysis of human nucleolus. (PMID: 12429849) Scherl A … Diaz JJ (Molecular biology of the cell 2002) 3 4 56
  5. Proteomic profiling of VCP substrates links VCP to K6-linked ubiquitylation and c-Myc function. (PMID: 29467282) Heidelberger JB … Beli P (EMBO reports 2018) 3 56

Products for TBL3 Gene

Sources for TBL3 Gene