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Aliases for TNKS Gene

Aliases for TNKS Gene

  • Tankyrase 2 3
  • Tankyrase, TRF1-Interacting Ankyrin-Related ADP-Ribose Polymerase 2 3 5
  • TRF1-Interacting Ankyrin-Related ADP-Ribose Polymerase 1 2 3
  • TRF1-Interacting Ankyrin-Related ADP-Ribose Polymerase 3 4
  • ADP-Ribosyltransferase Diphtheria Toxin-Like 5 3 4
  • Poly [ADP-Ribose] Polymerase 5A 3 4
  • Tankyrase I 3 4
  • PARP5A 3 4
  • TNKS-1 3 4
  • PARPL 3 4
  • ARTD5 3 4
  • TANK1 3 4
  • TINF1 3 4
  • TNKS1 3 4
  • TIN1 3 4
  • EC 2.4.2.30 4
  • PARP-5a 3
  • PART5 3

External Ids for TNKS Gene

Previous GeneCards Identifiers for TNKS Gene

  • GC08P009330
  • GC08P009450
  • GC08P008339
  • GC08P009413

Summaries for TNKS Gene

GeneCards Summary for TNKS Gene

TNKS (Tankyrase) is a Protein Coding gene. Diseases associated with TNKS include Cherubism and Cornelia De Lange Syndrome. Among its related pathways are Regulation of Telomerase and Signaling by Wnt. GO annotations related to this gene include NAD+ ADP-ribosyltransferase activity. An important paralog of this gene is TANC1.

UniProtKB/Swiss-Prot for TNKS Gene

  • Poly-ADP-ribosyltransferase involved in various processes such as Wnt signaling pathway, telomere length and vesicle trafficking. Acts as an activator of the Wnt signaling pathway by mediating poly-ADP-ribosylation (PARsylation) of AXIN1 and AXIN2, 2 key components of the beta-catenin destruction complex: poly-ADP-ribosylated target proteins are recognized by RNF146, which mediates their ubiquitination and subsequent degradation. Also mediates PARsylation of BLZF1 and CASC3, followed by recruitment of RNF146 and subsequent ubiquitination. Mediates PARsylation of TERF1, thereby contributing to the regulation of telomere length. Involved in centrosome maturation during prometaphase by mediating PARsylation of HEPACAM2/MIKI. May also regulate vesicle trafficking and modulate the subcellular distribution of SLC2A4/GLUT4-vesicles. May be involved in spindle pole assembly through PARsylation of NUMA1. Stimulates 26S proteasome activity.

Tocris Summary for TNKS Gene

  • The Tankyrases (TNKS1/PARP5A and TNKS2/PARP5B) are poly (ADP-ribose) polymerases that catalyze the ADP-ribosylation of target proteins. TNKS' are involved in the regulation of Wnt/beta-catenin signaling and have been implicated in the pathology of various forms of cancer.

Gene Wiki entry for TNKS Gene

No data available for Entrez Gene Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TNKS Gene

Genomics for TNKS Gene

Regulatory Elements for TNKS Gene

Enhancers for TNKS Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TNKS on UCSC Golden Path with GeneCards custom track

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

ENSRs around TNKS on UCSC Golden Path with GeneCards custom track

Genomic Location for TNKS Gene

Chromosome:
8
Start:
9,555,214 bp from pter
End:
9,782,346 bp from pter
Size:
227,133 bases
Orientation:
Plus strand

Genomic View for TNKS Gene

Genes around TNKS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for TNKS Gene

Proteins for TNKS Gene

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

    Protein Symbol:
    O95271-TNKS1_HUMAN
    Recommended name:
    Tankyrase-1
    Protein Accession:
    O95271
    Secondary Accessions:
    • O95272
    • Q4G0F2

    Protein attributes for TNKS Gene

    Size:
    1327 amino acids
    Molecular mass:
    142039 Da
    Quaternary structure:
    • Oligomerizes and associates with TNKS2. Interacts with the cytoplasmic domain of LNPEP/Otase in SLC2A4/GLUT4-vesicles. Binds to the N-terminus of telomeric TERF1 via the ANK repeats. Found in a complex with POT1; TERF1 and TINF2. Interacts with AXIN1, AXIN2, BLZF1 and CASC3.

    Three dimensional structures from OCA and Proteopedia for TNKS Gene

    Alternative splice isoforms for TNKS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TNKS Gene

Proteomics data for TNKS Gene at MOPED

Post-translational modifications for TNKS Gene

  • ADP-ribosylated (-auto). Poly-ADP-ribosylated protein is recognized by RNF146, followed by ubiquitination.
  • Phosphorylated on serine residues by MAPK kinases upon insulin stimulation. Phosphorylated during mitosis.
  • Ubiquitinated by RNF146 when auto-poly-ADP-ribosylated, leading to its degradation.
  • Ubiquitination at Lys 210 and Lys 767
  • Modification sites at PhosphoSitePlus

Other Protein References for TNKS Gene

Antibody Products

No data available for DME Specific Peptides for TNKS Gene

Domains & Families for TNKS Gene

Suggested Antigen Peptide Sequences for TNKS Gene

Graphical View of Domain Structure for InterPro Entry

O95271

UniProtKB/Swiss-Prot:

TNKS1_HUMAN :
  • Contains 1 PARP catalytic domain.
  • Contains 21 ANK repeats.
Domain:
  • Contains 1 PARP catalytic domain.
  • Contains 1 SAM (sterile alpha motif) domain.
Similarity:
  • Contains 21 ANK repeats.
genes like me logo Genes that share domains with TNKS: view

Function for TNKS Gene

Molecular function for TNKS Gene

GENATLAS Biochemistry:
tankyrase,a poly (ADP ribose) polymerase located at telomeres,centromeres and nuclear pore complexes,binding the telomere-specific DNA binding protein TERF1 potential modulator of telomere length
UniProtKB/Swiss-Prot CatalyticActivity:
NAD(+) + (ADP-D-ribosyl)(n)-acceptor = nicotinamide + (ADP-D-ribosyl)(n+1)-acceptor.
UniProtKB/Swiss-Prot EnzymeRegulation:
Specifically inhibited by XAV939, a small molecule, leading to inhibit the Wnt signaling pathway by stabilizing AXIN1 and AXIN2.
UniProtKB/Swiss-Prot Function:
Poly-ADP-ribosyltransferase involved in various processes such as Wnt signaling pathway, telomere length and vesicle trafficking. Acts as an activator of the Wnt signaling pathway by mediating poly-ADP-ribosylation (PARsylation) of AXIN1 and AXIN2, 2 key components of the beta-catenin destruction complex: poly-ADP-ribosylated target proteins are recognized by RNF146, which mediates their ubiquitination and subsequent degradation. Also mediates PARsylation of BLZF1 and CASC3, followed by recruitment of RNF146 and subsequent ubiquitination. Mediates PARsylation of TERF1, thereby contributing to the regulation of telomere length. Involved in centrosome maturation during prometaphase by mediating PARsylation of HEPACAM2/MIKI. May also regulate vesicle trafficking and modulate the subcellular distribution of SLC2A4/GLUT4-vesicles. May be involved in spindle pole assembly through PARsylation of NUMA1. Stimulates 26S proteasome activity.

Enzyme Numbers (IUBMB) for TNKS Gene

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

Animal Models for TNKS Gene

MGI Knock Outs for TNKS:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TNKS Gene

Localization for TNKS Gene

Subcellular locations from UniProtKB/Swiss-Prot for TNKS Gene

Cytoplasm. Golgi apparatus membrane; Peripheral membrane protein. Chromosome, centromere. Nucleus, nuclear pore complex. Chromosome, telomere. Cytoplasm, cytoskeleton, spindle pole. Note=Associated with the Golgi and with juxtanuclear SLC2A4/GLUT4-vesicles. A minor proportion is also found at nuclear pore complexes and around the pericentriolar matrix of mitotic centromeres. During interphase, a small fraction of TNKS is found in the nucleus, associated with TERF1. Localizes to spindle poles at mitosis onset via interaction with NUMA1.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TNKS Gene COMPARTMENTS Subcellular localization image for TNKS gene
Compartment Confidence
cytoskeleton 5
cytosol 5
golgi apparatus 5
nucleus 5
plasma membrane 2
mitochondrion 1

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

Pathways & Interactions for TNKS Gene

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

Pathways by source for TNKS Gene

1 GeneGo (Thomson Reuters) pathway for TNKS Gene

SIGNOR curated interactions for TNKS Gene

Inactivates:

Gene Ontology (GO) - Biological Process for TNKS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IDA 19759537
GO:0006471 protein ADP-ribosylation IDA 9822378
GO:0007067 mitotic nuclear division IEA --
GO:0008152 metabolic process IEA --
GO:0018105 peptidyl-serine phosphorylation IDA 17026964
genes like me logo Genes that share ontologies with TNKS: view

Drugs & Compounds for TNKS Gene

(6) Drugs for TNKS Gene - From: ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nicotinamide Experimental Nutra 850,854
JW 55 Pharma PARP domain inhibitor, Tankyrase inhibitor 0
XAV-939 Pharma Tankyrase 1/2 inhibitor, Potent tankyrase inhibitor 0
NAD Pharma Full agonist, Agonist 0
NADH Nutra 0

(5) Additional Compounds for TNKS Gene - From: Tocris and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
MN 64
92831-11-3
TC-E 5001
865565-29-3

(5) Tocris Compounds for TNKS Gene

Compound Action Cas Number
JW 55 Tankyrase inhibitor 664993-53-7
MN 64 Potent and selective tankyrase inhibitor 92831-11-3
TC-E 5001 Potent tankyrase inhibitor 865565-29-3
WIKI4 Potent tankyrase inhibitor 838818-26-1
XAV 939 Potent tankyrase inhibitor 284028-89-3

(2) ApexBio Compounds for TNKS Gene

Compound Action Cas Number
JW 55 PARP domain inhibitor 664993-53-7
XAV-939 Tankyrase 1/2 inhibitor 284028-89-3
genes like me logo Genes that share compounds with TNKS: view

Transcripts for TNKS Gene

Unigene Clusters for TNKS Gene

Tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase:
Representative Sequences:

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b ^
SP1:
SP2:

ExUns: 26 ^ 27a · 27b
SP1: -
SP2:

Relevant External Links for TNKS Gene

GeneLoc Exon Structure for
TNKS
ECgene alternative splicing isoforms for
TNKS

Expression for TNKS Gene

mRNA expression in normal human tissues for TNKS Gene

Protein differential expression in normal tissues from HIPED for TNKS Gene

This gene is overexpressed in Platelet (39.3), Heart (16.2), and Spinal cord (8.3).

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



SOURCE GeneReport for Unigene cluster for TNKS Gene Hs.370267

mRNA Expression by UniProt/SwissProt for TNKS Gene

O95271-TNKS1_HUMAN
Tissue specificity: Ubiquitous; highest levels in testis.
genes like me logo Genes that share expression patterns with TNKS: view

Protein tissue co-expression partners for TNKS Gene

- Elite partner

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 TNKS Gene

Orthologs for TNKS Gene

This gene was present in the common ancestor of animals.

Orthologs for TNKS Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TNKS 35
  • 92.34 (n)
  • 98.87 (a)
TNKS 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TNKS 35
  • 93.52 (n)
  • 98.94 (a)
TNKS 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tnks 35
  • 88.51 (n)
  • 97.42 (a)
Tnks 16
Tnks 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TNKS 35
  • 99.45 (n)
  • 99.62 (a)
TNKS 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tnks 35
  • 88.26 (n)
  • 97.49 (a)
oppossum
(Monodelphis domestica)
Mammalia TNKS 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TNKS 36
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves TNKS 35
  • 82.9 (n)
  • 96.48 (a)
TNKS 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TNKS 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10012 35
tnks 35
  • 79.93 (n)
  • 95.54 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3525 35
zebrafish
(Danio rerio)
Actinopterygii tnks 35
  • 76.99 (n)
  • 93.21 (a)
tnks 36
  • 86 (a)
OneToMany
TNKS (1 of 2) 36
  • 86 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:LD22548 37
  • 64 (a)
tankyrase 35
  • 62.38 (n)
  • 68.72 (a)
tankyrase 36
  • 65 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001947 35
  • 62.47 (n)
  • 71.08 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 74 (a)
OneToMany
Species with no ortholog for TNKS:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TNKS Gene

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

Paralogs for TNKS Gene

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

Variants for TNKS Gene

Sequence variations from dbSNP and Humsavar for TNKS Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs2409596 -- 9,779,826(+) CAGCA(G/T)TGCAA utr-variant-3-prime
rs7829677 -- 9,578,656(+) TTACT(C/G)TTTTC intron-variant
rs7830503 -- 9,762,124(+) TCTAA(C/T)CTTTC intron-variant
rs7831183 -- 9,654,968(+) gaagc(A/G)caagg intron-variant
rs7831760 -- 9,645,924(+) ATTTG(A/G)CAAAA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2454645 CNV Insertion 19546169
esv272585 CNV Insertion 20981092
esv269337 CNV Insertion 20981092
nsv6074 CNV Insertion 18451855
nsv437043 CNV Loss 16327808
esv995663 CNV Deletion 20482838
esv2509921 CNV Deletion 19546169
nsv435864 CNV Deletion 17901297
esv2147282 CNV Deletion 18987734
nsv824530 CNV Loss 20364138
nsv819378 CNV Loss 19587683
esv2736578 CNV Deletion 23290073
esv25806 CNV Loss 19812545
esv2673959 CNV Deletion 23128226
nsv515114 CNV Complex 21397061
nsv438035 CNV Loss 16468122
esv2678826 CNV Deletion 23128226
nsv6075 CNV Insertion 18451855
esv29852 CNV Loss 19812545
nsv509251 CNV Insertion 20534489
esv2736579 CNV Deletion 23290073
esv2736580 CNV Deletion 23290073
esv2661157 CNV Deletion 23128226
nsv512942 CNV Insertion 21212237

Variation tolerance for TNKS Gene

Residual Variation Intolerance Score: 0.398% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.90; 35.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TNKS Gene

Human Gene Mutation Database (HGMD)
TNKS

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

Disorders for TNKS Gene

MalaCards: The human disease database

(2) MalaCards diseases for TNKS Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cherubism
  • crbm
cornelia de lange syndrome
  • brachmann de lange syndrome
- elite association - COSMIC cancer census association via MalaCards
Search TNKS in MalaCards View complete list of genes associated with diseases

Relevant External Links for TNKS

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

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

Publications for TNKS Gene

  1. Tankyrase, a poly(ADP-ribose) polymerase at human telomeres. (PMID: 9822378) Smith S. … de Lange T. (Science 1998) 2 3 4 67
  2. Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups. (PMID: 20421936) Scherag A. … Meyre D. (PLoS Genet. 2010) 3 23
  3. Interaction between Poly(ADP-ribose) and NuMA contributes to mitotic spindle pole assembly. (PMID: 19759176) Chang P. … Mitchison T.J. (Mol. Biol. Cell 2009) 3 23
  4. Polymorphisms in telomere-associated genes, breast cancer susceptibility and prognosis. (PMID: 19766477) Varadi V. … FAPrsti A. (Eur. J. Cancer 2009) 3 23
  5. Polymorphisms in telomere maintenance genes and risk of lung cancer. (PMID: 19773453) Choi J.E. … Park J.Y. (Cancer Epidemiol. Biomarkers Prev. 2009) 3 23

Products for TNKS Gene

Sources for TNKS Gene

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