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; AllianceGenome:HGNC:11941
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
Summary: Enables NAD+-protein poly-ADP-ribosyltransferase activity; histone binding activity; and zinc ion binding activity. Involved in several processes, including positive regulation of canonical Wnt signaling pathway; post-translational protein modification; and regulation of chromosome organization. Acts upstream of or within peptidyl-serine phosphorylation and peptidyl-threonine phosphorylation. Located in several cellular components, including chromosome, telomeric region; mitotic spindle pole; and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
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
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (9555912..9782346)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (9959097..10187973, complement)
RS_2024_09	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 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?

BET protein-dependent E2F pathway activity confers bell-shaped type resistance to tankyrase inhibitors in APC-mutated colorectal cancer.
Title: BET protein-dependent E2F pathway activity confers bell-shaped type resistance to tankyrase inhibitors in APC-mutated colorectal cancer.
Tankyrase inhibition interferes with junction remodeling, induces leakiness, and disturbs YAP1/TAZ signaling in the endothelium.
Title: Tankyrase inhibition interferes with junction remodeling, induces leakiness, and disturbs YAP1/TAZ signaling in the endothelium.
Effect and interaction of TNKS genetic polymorphisms and environmental factors on telomere damage in COEs-exposure workers.
Title: Effect and interaction of TNKS genetic polymorphisms and environmental factors on telomere damage in COEs-exposure workers.
Tankyrases inhibit innate antiviral response by PARylating VISA/MAVS and priming it for RNF146-mediated ubiquitination and degradation.
Title: Tankyrases inhibit innate antiviral response by PARylating VISA/MAVS and priming it for RNF146-mediated ubiquitination and degradation.
Deubiquitination of TNKS1 Regulates Wnt/beta-Catenin to Affect the Expression of USP25 to Promote the Progression of Glioma.
Title: Deubiquitination of TNKS1 Regulates Wnt/β-Catenin to Affect the Expression of USP25 to Promote the Progression of Glioma.
Tankyrase-1-mediated degradation of Golgin45 regulates glycosyltransferase trafficking and protein glycosylation in Rab2-GTP-dependent manner.
Title: Tankyrase-1-mediated degradation of Golgin45 regulates glycosyltransferase trafficking and protein glycosylation in Rab2-GTP-dependent manner.
Evaluation of AXIN1 and AXIN2 as targets of tankyrase inhibition in hepatocellular carcinoma cell lines.
Title: Evaluation of AXIN1 and AXIN2 as targets of tankyrase inhibition in hepatocellular carcinoma cell lines.
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.

Submit: New GeneRIF Correction See all GeneRIFs (77)

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

EBI GWAS Catalog

Description
Genome-wide association study identifies ALLC polymorphisms correlated with FEV&#x02081; change by corticosteroid. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma. EBI GWAS Catalog EBI GWAS CatalogPubMed
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. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NAD+-protein ADP-ribosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables NAD+-protein poly-ADP-ribosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables NAD+-protein poly-ADP-ribosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables NAD+-protein poly-ADP-ribosyltransferase activity	TAS Traceable Author Statement more info
enables histone binding	IPI Inferred from Physical Interaction more info	PubMed
enables nucleotidyltransferase activity	IEA Inferred from Electronic Annotation more info
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 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
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 telomere capping	IBA Inferred from Biological aspect of Ancestor more info
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 telomere maintenance via telomere lengthening	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	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
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	TAS Traceable Author Statement 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
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
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_011542147.1

EC 2.4.2.30

XP_011542148.1

EC 2.4.2.30

XP_054188244.1

EC 2.4.2.30

XP_054188245.1

EC 2.4.2.30

XP_054188246.1

EC 2.4.2.30

XP_054188247.1

EC 2.4.2.30

XP_054188248.1

EC 2.4.2.30

XP_054217405.1

EC 2.4.2.30

XP_054217406.1

EC 2.4.2.30

XP_054217407.1

EC 2.4.2.30

XP_054217408.1

EC 2.4.2.30

XP_054217409.1

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, O95272, Q4G0F2, Q59FX0

UniProtKB/TrEMBL

E7EQ52

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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

9555912..9782346

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011543845.4 → XP_011542147.1 poly [ADP-ribose] polymerase tankyrase-1 isoform X1

See identical proteins and their annotated locations for XP_011542147.1

UniProtKB/TrEMBL

E7EQ52, H0YAW5

Related

ENSP00000428185.2, ENST00000517770.2

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_011543846.4 → XP_011542148.1 poly [ADP-ribose] polymerase tankyrase-1 isoform X2

UniProtKB/TrEMBL

E7EQ52

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]

Reference GRCh38.p14 PATCHES

Genomic

NW_018654717.1 Reference GRCh38.p14 PATCHES

Range

3566718..3795557 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054332271.1 → XP_054188246.1 poly [ADP-ribose] polymerase tankyrase-1 isoform X3
XM_054332273.1 → XP_054188248.1 poly [ADP-ribose] polymerase tankyrase-1 isoform X5
XM_054332272.1 → XP_054188247.1 poly [ADP-ribose] polymerase tankyrase-1 isoform X4
XM_054332270.1 → XP_054188245.1 poly [ADP-ribose] polymerase tankyrase-1 isoform X2
XM_054332269.1 → XP_054188244.1 poly [ADP-ribose] polymerase tankyrase-1 isoform X1

UniProtKB/TrEMBL

H0YAW5

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

9959097..10187973 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054361432.1 → XP_054217407.1 poly [ADP-ribose] polymerase tankyrase-1 isoform X6
XM_054361434.1 → XP_054217409.1 poly [ADP-ribose] polymerase tankyrase-1 isoform X8
XM_054361433.1 → XP_054217408.1 poly [ADP-ribose] polymerase tankyrase-1 isoform X7
XM_054361431.1 → XP_054217406.1 poly [ADP-ribose] polymerase tankyrase-1 isoform X2
XM_054361430.1 → XP_054217405.1 poly [ADP-ribose] polymerase tankyrase-1 isoform X1

UniProtKB/TrEMBL

H0YAW5