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TNKS tankyrase [ Homo sapiens (human) ]

Gene ID: 8658, updated on 11-Nov-2018

Summary

Official Symbol
TNKSprovided by HGNC
Official Full Name
tankyraseprovided by HGNC
Primary source
HGNC:HGNC:11941
See related
Ensembl:ENSG00000173273 MIM:603303; Vega:OTTHUMG00000090481
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TIN1; ARTD5; PARPL; TINF1; TNKS1; pART5; PARP5A; PARP-5a
Expression
Ubiquitous expression in testis (RPKM 8.6), brain (RPKM 7.0) and 25 other tissues See more
Orthologs

Genomic context

See TNKS in Genome Data Viewer
Location:
8p23.1
Exon count:
29
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (9555230..9782346)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (9412756..9639856)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379231 Neighboring gene uncharacterized LOC105379230 Neighboring gene RNA, U6 small nuclear 526, pseudogene Neighboring gene DENN domain containing 4A pseudogene Neighboring gene microRNA 597 Neighboring gene long intergenic non-protein coding RNA 599 Neighboring gene microRNA 124-1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies ALLC polymorphisms correlated with FEV₁ change by corticosteroid.
NHGRI GWA Catalog
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
NHGRI GWA Catalog
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
NHGRI GWA Catalog
The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.
NHGRI GWA Catalog
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.
NHGRI GWA Catalog

Pathways from BioSystems

  • Degradation of AXIN, organism-specific biosystem (from REACTOME)
    Degradation of AXIN, organism-specific biosystemAXIN is present in low concentrations in the cell and is considered to be the limiting component of the beta-catenin destruction complex in Xenopus; this may not be the case in mammalian cells, howev...
  • Deubiquitination, organism-specific biosystem (from REACTOME)
    Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
    Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • NAD+ biosynthetic pathways, organism-specific biosystem (from WikiPathways)
    NAD+ biosynthetic pathways, organism-specific biosystemNAD+ biosynthetic pathways. NAD+ levels are maintained by three independent pathways. First, the Preiss-Handler pathway uses dietary nicotinic acid and the enzyme nicotinic acid phosphoribosyltransfe...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Regulation of Telomerase, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of Telomerase, organism-specific biosystem
    Regulation of Telomerase
  • Regulation of Wnt/B-catenin Signaling by Small Molecule Compounds, organism-specific biosystem (from WikiPathways)
    Regulation of Wnt/B-catenin Signaling by Small Molecule Compounds, organism-specific biosystemThe Wnt/B-catenin pathway begins with Wnt family activation by MBOAT that allows Wnt proteins to translocate out of a cell and bind to FZD and LRP to form a complex. This complex stimulates B-catenin...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by WNT in cancer, organism-specific biosystem (from REACTOME)
    Signaling by WNT in cancer, organism-specific biosystemThe WNT signaling pathway has been linked with cancer ever since the identification of the first WNT as a gene activated by integration of mouse mammary tumor virus proviral DNA in virally-induced br...
  • Signaling by Wnt, organism-specific biosystem (from REACTOME)
    Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
  • TCF dependent signaling in response to WNT, organism-specific biosystem (from REACTOME)
    TCF dependent signaling in response to WNT, organism-specific biosystem19 WNT ligands and 10 FZD receptors have been identified in human cells; interactions amongst these ligands and receptors vary in a developmental and tissue-specific manner and lead to activation of ...
  • Ub-specific processing proteases, organism-specific biosystem (from REACTOME)
    Ub-specific processing proteases, organism-specific biosystemUb-specific processing proteases (USPs) are the largest of the DUB families with more than 50 members in humans. The USP catalytic domain varies considerably in size and consists of six conserved mo...
  • XAV939 inhibits tankyrase, stabilizing AXIN, organism-specific biosystem (from REACTOME)
    XAV939 inhibits tankyrase, stabilizing AXIN, organism-specific biosystemXAV939 binds to the catalytic sites of tankyrase 1 and 2 and inhibits the ADP-ribosylation of AXIN1 and 2. Treatment of cells with XAV939 significantly increases the protein, but not the mRNA levels ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NAD+ ADP-ribosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NAD+ ADP-ribosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
NAD+ ADP-ribosyltransferase activity TAS
Traceable Author Statement
more info
 
histone binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
cellular response to nutrient IEA
Inferred from Electronic Annotation
more info
 
mRNA transport IEA
Inferred from Electronic Annotation
more info
 
mitotic spindle organization TAS
Traceable Author Statement
more info
PubMed 
negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of telomere maintenance via telomere lengthening IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of telomeric DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of telomeric DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptidyl-serine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-threonine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of canonical Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of canonical Wnt signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of telomerase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of telomere capping IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of telomere capping IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of telomere capping IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of telomere maintenance via telomerase IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of telomere maintenance via telomerase IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
protein ADP-ribosylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein ADP-ribosylation IDA
Inferred from Direct Assay
more info
PubMed 
protein auto-ADP-ribosylation IDA
Inferred from Direct Assay
more info
PubMed 
protein localization to chromosome, telomeric region IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to chromosome, telomeric region IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein poly-ADP-ribosylation IDA
Inferred from Direct Assay
more info
PubMed 
protein poly-ADP-ribosylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein polyubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of telomere maintenance via telomerase IC
Inferred by Curator
more info
PubMed 
spindle assembly TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
chromosome, centromeric region IEA
Inferred from Electronic Annotation
more info
 
chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
mitotic spindle pole IDA
Inferred from Direct Assay
more info
PubMed 
nuclear body IDA
Inferred from Direct Assay
more info
 
nuclear chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
nuclear membrane IDA
Inferred from Direct Assay
more info
 
nuclear membrane TAS
Traceable Author Statement
more info
PubMed 
nuclear pore TAS
Traceable Author Statement
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pericentriolar material TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
tankyrase-1
Names
ADP-ribosyltransferase diphtheria toxin-like 5
TANK1
TNKS-1
TRF1-interacting ankyrin-related ADP-ribose polymerase 1
poly [ADP-ribose] polymerase 5A
tankyrase I
tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase
NP_003738.2
XP_006716326.1
XP_011542147.1
XP_011542148.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_003747.2NP_003738.2  tankyrase-1

    See identical proteins and their annotated locations for NP_003738.2

    Status: VALIDATED

    Source sequence(s)
    AC104052, AF082556, AL706619, BC098394
    Consensus CDS
    CCDS5974.1
    UniProtKB/Swiss-Prot
    O95271
    Related
    ENSP00000311579.6, OTTHUMP00000115550, ENST00000310430.10, OTTHUMT00000206935
    Conserved Domains (8) summary
    cd09524
    Location:10241089
    SAM_tankyrase1,2; SAM domain of tankyrase1,2 subfamily
    smart00454
    Location:10301087
    SAM; Sterile alpha motif
    cd00204
    Location:676801
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd01438
    Location:10911313
    tankyrase_like; Tankyrases interact with the telomere reverse transcriptase complex (TERT). Tankyrase 1 poly-ADP-ribosylates Telomere Repeat Binding Factor 1 (TRF1) while Tankyrase 2 can poly-ADP-ribosylate itself or TRF1. The tankyrases also contain multiple ankyrin ...
    pfam00644
    Location:11051308
    PARP; Poly(ADP-ribose) polymerase catalytic domain
    pfam12796
    Location:688780
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:803857
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:371399
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    9555230..9782346
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716263.4XP_006716326.1  tankyrase-1 isoform X1

    See identical proteins and their annotated locations for XP_006716326.1

    Conserved Domains (8) summary
    cd09524
    Location:10241089
    SAM_tankyrase1,2; SAM domain of tankyrase1,2 subfamily
    smart00454
    Location:10301087
    SAM; Sterile alpha motif
    cd00204
    Location:676801
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd01438
    Location:10911299
    tankyrase_like; Tankyrases interact with the telomere reverse transcriptase complex (TERT). Tankyrase 1 poly-ADP-ribosylates Telomere Repeat Binding Factor 1 (TRF1) while Tankyrase 2 can poly-ADP-ribosylate itself or TRF1. The tankyrases also contain multiple ankyrin ...
    pfam00644
    Location:11051300
    PARP; Poly(ADP-ribose) polymerase catalytic domain
    pfam12796
    Location:688780
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:803857
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:371399
    ANK; ANK repeat [structural motif]
  2. XM_011543845.3XP_011542147.1  tankyrase-1 isoform X1

    See identical proteins and their annotated locations for XP_011542147.1

    Conserved Domains (8) summary
    cd09524
    Location:10241089
    SAM_tankyrase1,2; SAM domain of tankyrase1,2 subfamily
    smart00454
    Location:10301087
    SAM; Sterile alpha motif
    cd00204
    Location:676801
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd01438
    Location:10911299
    tankyrase_like; Tankyrases interact with the telomere reverse transcriptase complex (TERT). Tankyrase 1 poly-ADP-ribosylates Telomere Repeat Binding Factor 1 (TRF1) while Tankyrase 2 can poly-ADP-ribosylate itself or TRF1. The tankyrases also contain multiple ankyrin ...
    pfam00644
    Location:11051300
    PARP; Poly(ADP-ribose) polymerase catalytic domain
    pfam12796
    Location:688780
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:803857
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:371399
    ANK; ANK repeat [structural motif]
  3. XM_011543846.3XP_011542148.1  tankyrase-1 isoform X2

    Conserved Domains (8) summary
    cd09524
    Location:10241089
    SAM_tankyrase1,2; SAM domain of tankyrase1,2 subfamily
    smart00454
    Location:10301087
    SAM; Sterile alpha motif
    cd00204
    Location:676801
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd01438
    Location:10911299
    tankyrase_like; Tankyrases interact with the telomere reverse transcriptase complex (TERT). Tankyrase 1 poly-ADP-ribosylates Telomere Repeat Binding Factor 1 (TRF1) while Tankyrase 2 can poly-ADP-ribosylate itself or TRF1. The tankyrases also contain multiple ankyrin ...
    pfam00644
    Location:11051300
    PARP; Poly(ADP-ribose) polymerase catalytic domain
    pfam12796
    Location:688780
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:803857
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:371399
    ANK; ANK repeat [structural motif]

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p12 PATCHES

    Range
    3566718..3795534 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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