TNKS tankyrase [Homo sapiens (human)] - Gene

Summary

Official Symbol: TNKSprovided by HGNC
Official Full Name: tankyraseprovided by HGNC
Primary source: HGNC:HGNC:11941
See related: Ensembl:ENSG00000173273 MIM:603303
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: mouse all
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Genomic context

Location:: 8p23.1

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
109.20210514	current	GRCh38.p13 (GCF_000001405.39)	8	NC_000008.11 (9555230..9782346)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (9413422..9639856)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Shorter telomere length, higher telomerase activity in association with tankyrase gene polymorphism contribute to high-altitude pulmonary edema.
Title: Shorter telomere length, higher telomerase activity in association with tankyrase gene polymorphism contribute to high-altitude pulmonary edema.
Dissecting the molecular determinants of clinical PARP1 inhibitor selectivity for tankyrase1.
Title: Dissecting the molecular determinants of clinical PARP1 inhibitor selectivity for tankyrase1.
Discovery of a Novel Triazolopyridine Derivative as a Tankyrase Inhibitor.
Title: Discovery of a Novel Triazolopyridine Derivative as a Tankyrase Inhibitor.
Arpin Regulates Migration Persistence by Interacting with Both Tankyrases and the Arp2/3 Complex.
Title: Arpin Regulates Migration Persistence by Interacting with Both Tankyrases and the Arp2/3 Complex.
circ5615 functions as a ceRNA to promote colorectal cancer progression by upregulating TNKS.
Title: circ5615 functions as a ceRNA to promote colorectal cancer progression by upregulating TNKS.
Tankyrase promotes primary precursor miRNA processing to precursor miRNA.
Title: Tankyrase promotes primary precursor miRNA processing to precursor miRNA.
we present an analysis of the sequence and structural features governing TNKS interactions with two model binding partners: the PARylated partner telomeric repeat-binding factor 1 (TRF1) and the non-PARylated partner GDP-mannose 4,6-dehydratase (GMD).
Title: Structural and functional analysis of parameters governing tankyrase-1 interaction with telomeric repeat-binding factor 1 and GDP-mannose 4,6-dehydratase.
results demonstrated that some heritable variants in the TNKS gene are associated with high myopia in the Han population
Title: Association of genetic variants at MYP10 and MYP15 with high myopia in a Han Chinese population.
TANK1 level was dramatically unregulated in the osteosarcoma cells. TANK1 played an important role in osteosarcoma cell proliferation, metastasis and invasion
Title: Tankyrase1 antisense oligodeoxynucleotides suppress the proliferation, migration and invasion through Hippo/YAP pathway in human osteosarcoma cells.
findings identified TNKS as an oncogenic regulator of ovarian cancer cells proliferation that promotes aerobic glycolysis via activation of Wnt/beta-catenin signaling.
Title: Tankyrase Promotes Aerobic Glycolysis and Proliferation of Ovarian Cancer through Activation of Wnt/<i>β</i>-Catenin Signaling.

Submit: New GeneRIF Correction See all GeneRIFs (70)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Genome-wide association study identifies ALLC polymorphisms correlated with FEV&#x02081; change by corticosteroid. GeneReviews: Not available
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. GeneReviews: Not available
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. GeneReviews: Not available
The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma. GeneReviews: Not available
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. GeneReviews: Not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-24414 (e-PCR)
- UniSTS:81158

RH11883 (e-PCR)
- UniSTS:25352

RH18302 (e-PCR)
- UniSTS:28435

NoName (e-PCR)
- UniSTS:45338

RH104269 (e-PCR)
- UniSTS:98594

PMC156606P2 (e-PCR)
- UniSTS:271409

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

G20573 (e-PCR)
- UniSTS:4932

A005X23 (e-PCR)
- UniSTS:4933

SHGC-132382 (e-PCR)
- UniSTS:184694

HSC2QE062 (e-PCR)
- UniSTS:13182

G59681 (e-PCR)
- UniSTS:136835

SHGC-63000 (e-PCR)
- UniSTS:95383

RH120367 (e-PCR)
- UniSTS:132508

RH103385 (e-PCR)
- UniSTS:97711

RH44938 (e-PCR)
- UniSTS:45547

Homology

Homologs of the TNKS gene: The TNKS gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 272 organisms have orthologs with human gene TNKS
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NAD+ ADP-ribosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables NAD+ ADP-ribosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables NAD+ ADP-ribosyltransferase activity	TAS Traceable Author Statement more info
enables histone binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein ADP-ribosylase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in cellular response to nutrient	IEA Inferred from Electronic Annotation more info
involved_in mRNA transport	IEA Inferred from Electronic Annotation more info
involved_in mitotic spindle organization	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of telomere maintenance via telomere lengthening	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of telomeric DNA binding	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of telomeric DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within peptidyl-serine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within peptidyl-threonine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of canonical Wnt signaling pathway	TAS Traceable Author Statement more info
involved_in positive regulation of telomerase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of telomere capping	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of telomere capping	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of telomere capping	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of telomere maintenance via telomerase	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of telomere maintenance via telomerase	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ADP-ribosylation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within protein ADP-ribosylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ADP-ribosylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein auto-ADP-ribosylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to chromosome, telomeric region	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in protein localization to chromosome, telomeric region	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein poly-ADP-ribosylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein poly-ADP-ribosylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein polyubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of telomere maintenance via telomerase	IC Inferred by Curator more info	PubMed
involved_in spindle assembly	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in mitotic spindle pole	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nuclear membrane	IDA Inferred from Direct Assay more info
located_in nuclear membrane	TAS Traceable Author Statement more info	PubMed
part_of nuclear pore	TAS Traceable Author Statement more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in pericentriolar material	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: poly [ADP-ribose] polymerase 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; protein poly-ADP-ribosyltransferase tankyrase-1; tankyrase I; tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase; tankyrase-1

NP_003738.2

EC 2.4.2.30

XP_006716326.1

EC 2.4.2.30

XP_011542147.1

EC 2.4.2.30

XP_011542148.1

EC 2.4.2.30

NCBI Reference Sequences (RefSeq)

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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)

NM_003747.3 → NP_003738.2 poly [ADP-ribose] polymerase tankyrase-1

See identical proteins and their annotated locations for NP_003738.2

Status: VALIDATED

Source sequence(s)

AC021242, AC103834, AC103877, AC104052

Consensus CDS

CCDS5974.1

UniProtKB/Swiss-Prot

O95271

Related

ENSP00000311579.6, ENST00000310430.11

Conserved Domains (8) summary

cd09524
Location:1024 → 1089

SAM_tankyrase1,2; SAM domain of tankyrase1,2 subfamily

smart00454
Location:1030 → 1087

SAM; Sterile alpha motif

cd00204
Location:676 → 801

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:1091 → 1313

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:1105 → 1308

PARP; Poly(ADP-ribose) polymerase catalytic domain

pfam12796
Location:688 → 780

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:803 → 857

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:371 → 399

ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p13 Primary Assembly

Range

9555230..9782346

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006716263.4 → XP_006716326.1 poly [ADP-ribose] polymerase tankyrase-1 isoform X1

See identical proteins and their annotated locations for XP_006716326.1

Conserved Domains (6) summary

PTZ00322
Location:177 → 269

PTZ00322; 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase; Provisional

PHA02876
Location:231 → 616

PHA02876; ankyrin repeat protein; Provisional

cd09524
Location:1024 → 1089

SAM_tankyrase1,2; SAM domain of tankyrase1,2 subfamily

PHA03095
Location:652 → 976

PHA03095; ankyrin-like protein; Provisional

cd01438
Location:1091 → 1299

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 ...

sd00045
Location:371 → 399

ANK; ANK repeat [structural motif]
XM_011543845.3 → XP_011542147.1 poly [ADP-ribose] polymerase tankyrase-1 isoform X1

See identical proteins and their annotated locations for XP_011542147.1

Conserved Domains (6) summary

PTZ00322
Location:177 → 269

PTZ00322; 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase; Provisional

PHA02876
Location:231 → 616

PHA02876; ankyrin repeat protein; Provisional

cd09524
Location:1024 → 1089

SAM_tankyrase1,2; SAM domain of tankyrase1,2 subfamily

PHA03095
Location:652 → 976

PHA03095; ankyrin-like protein; Provisional

cd01438
Location:1091 → 1299

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 ...

sd00045
Location:371 → 399

ANK; ANK repeat [structural motif]
XM_011543846.3 → XP_011542148.1 poly [ADP-ribose] polymerase tankyrase-1 isoform X2

Conserved Domains (6) summary

PTZ00322
Location:177 → 269

PTZ00322; 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase; Provisional

PHA02876
Location:231 → 616

PHA02876; ankyrin repeat protein; Provisional

cd09524
Location:1024 → 1089

SAM_tankyrase1,2; SAM domain of tankyrase1,2 subfamily

PHA03095
Location:652 → 976

PHA03095; ankyrin-like protein; Provisional

cd01438
Location:1091 → 1299

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 ...

sd00045
Location:371 → 399

ANK; ANK repeat [structural motif]