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Aliases for TBL3 Gene

Aliases for TBL3 Gene

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

External Ids for TBL3 Gene

Previous GeneCards Identifiers for TBL3 Gene

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

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 Gene Expression and Ribosome biogenesis in eukaryotes. 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

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

Proteomics data for TBL3 Gene at MOPED

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

Animal Model Products

  • Taconic Biosciences Mouse Models for TBL3

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

No data available for Gene Ontology (GO) - Cellular Components for TBL3 Gene

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

None

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:

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, MOPED, and MaxQB for TBL3 Gene



SOURCE GeneReport for Unigene cluster for TBL3 Gene Hs.513267

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

Protein tissue co-expression partners for TBL3 Gene

- Elite partner

Primer Products

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia TBL3 36
  • 99 (a)
OneToOne
TBL3 35
  • 98.31 (n)
  • 98.51 (a)
cow
(Bos Taurus)
Mammalia TBL3 35
  • 88.5 (n)
  • 89.71 (a)
TBL3 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBL3 36
  • 88 (a)
OneToOne
TBL3 35
  • 86.44 (n)
  • 89.17 (a)
mouse
(Mus musculus)
Mammalia Tbl3 36
  • 89 (a)
OneToOne
Tbl3 35
  • 83.61 (n)
  • 89.71 (a)
Tbl3 16
oppossum
(Monodelphis domestica)
Mammalia TBL3 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBL3 36
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbl3 35
  • 82.98 (n)
  • 89.46 (a)
chicken
(Gallus gallus)
Aves TBL3 35
  • 67.22 (n)
  • 66.08 (a)
TBL3 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 59 (a)
OneToMany
-- 36
  • 54 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia MGC69179 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.9646 35
tbl3 35
  • 65.07 (n)
  • 64.02 (a)
zebrafish
(Danio rerio)
Actinopterygii tbl3 36
  • 47 (a)
OneToOne
tbl3 35
  • 66.06 (n)
  • 59.69 (a)
wufc08g06 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009615 35
  • 51.62 (n)
  • 40.16 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1671 37
  • 31 (a)
CG1671 35
  • 49.29 (n)
  • 34.85 (a)
CG1671 36
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y53C12B.1 37
  • 31 (a)
Y53C12B.1 35
  • 41.56 (n)
  • 33.11 (a)
Y53C12B.1 36
  • 28 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR180W 35
  • 42.76 (n)
  • 32.76 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UTP13 35
  • 41.11 (n)
  • 33.02 (a)
UTP13 36
  • 28 (a)
OneToMany
UTP13 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F13244g 35
  • 42.25 (n)
  • 34.35 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons TOZ 35
  • 45.6 (n)
  • 37.44 (a)
rice
(Oryza sativa)
Liliopsida Os04g0592700 35
  • 48.16 (n)
  • 40.73 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03628 35
  • 46.92 (n)
  • 34.34 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes utp13 35
  • 42.26 (n)
  • 36.14 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4453 35
Species with no ortholog for TBL3:
  • 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
rs2240690 -- 1,976,441(+) CCAAA(C/G)ATGTG intron-variant
rs2302178 -- 1,971,892(+) CACCG(A/G)CCCGC upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
esv2422427 CNV Duplication 17116639
dgv2540n71 CNV Loss 21882294
dgv2544n71 CNV Loss 21882294
dgv2545n71 CNV Loss 21882294
nsv833120 CNV Loss 17160897
nsv905048 CNV Loss 21882294
dgv2546n71 CNV Loss 21882294
dgv2547n71 CNV Loss 21882294
dgv2548n71 CNV Gain 21882294
dgv2549n71 CNV Loss 21882294
dgv2550n71 CNV Loss 21882294
nsv905061 CNV Loss 21882294
dgv2551n71 CNV Loss 21882294
nsv471070 CNV Gain 18288195
nsv905070 CNV Gain+Loss 21882294
dgv2552n71 CNV Gain+Loss 21882294
dgv336n27 CNV Loss 19166990
nsv905076 CNV Gain 21882294
dgv2553n71 CNV Loss 21882294
nsv521569 CNV Loss 19592680
nsv523037 CNV Loss 19592680
nsv471072 CNV Loss 18288195
dgv2554n71 CNV Loss 21882294
nsv905082 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
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 23 67
  2. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. The central role of EED in the orchestration of polycomb group complexes. (PMID: 24457600) Cao Q. … Chinnaiyan A.M. (Nat Commun 2014) 3

Products for TBL3 Gene

Sources for TBL3 Gene

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