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    TNKS tankyrase [ Homo sapiens (human) ]

    Gene ID: 8658, updated on 3-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TNKS in Genome Data Viewer
    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_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379231 Neighboring gene uncharacterized LOC124901884 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:9240606-9241805 Neighboring gene DENN domain containing 4A pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26983 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:9413105-9413766 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:9413767-9414426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26984 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26985 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26986 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18908 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26987 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26988 Neighboring gene microRNA 597 Neighboring gene small nucleolar RNA U13 Neighboring gene uncharacterized LOC124902056

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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

    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
    XP_011542147.1
    XP_011542148.1
    XP_054188244.1
    XP_054188245.1
    XP_054188246.1
    XP_054188247.1
    XP_054188248.1
    XP_054217405.1
    XP_054217406.1
    XP_054217407.1
    XP_054217408.1
    XP_054217409.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_003747.3NP_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: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: 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

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      9555912..9782346
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543845.4XP_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:177269
      PTZ00322; 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase; Provisional
      PHA02876
      Location:231616
      PHA02876; ankyrin repeat protein; Provisional
      cd09524
      Location:10241089
      SAM_tankyrase1,2; SAM domain of tankyrase1,2 subfamily
      PHA03095
      Location:652976
      PHA03095; ankyrin-like protein; Provisional
      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 ...
      sd00045
      Location:371399
      ANK; ANK repeat [structural motif]
    2. XM_011543846.4XP_011542148.1  poly [ADP-ribose] polymerase tankyrase-1 isoform X2

      UniProtKB/TrEMBL
      E7EQ52
      Conserved Domains (6) summary
      PTZ00322
      Location:177269
      PTZ00322; 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase; Provisional
      PHA02876
      Location:231616
      PHA02876; ankyrin repeat protein; Provisional
      cd09524
      Location:10241089
      SAM_tankyrase1,2; SAM domain of tankyrase1,2 subfamily
      PHA03095
      Location:652976
      PHA03095; ankyrin-like protein; Provisional
      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 ...
      sd00045
      Location:371399
      ANK; ANK repeat [structural motif]

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p14 PATCHES

      Range
      3566718..3795557 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332271.1XP_054188246.1  poly [ADP-ribose] polymerase tankyrase-1 isoform X3

      UniProtKB/TrEMBL
      E7EQ52
    2. XM_054332273.1XP_054188248.1  poly [ADP-ribose] polymerase tankyrase-1 isoform X5

      UniProtKB/TrEMBL
      E7EQ52
    3. XM_054332272.1XP_054188247.1  poly [ADP-ribose] polymerase tankyrase-1 isoform X4

    4. XM_054332270.1XP_054188245.1  poly [ADP-ribose] polymerase tankyrase-1 isoform X2

      UniProtKB/TrEMBL
      E7EQ52
    5. XM_054332269.1XP_054188244.1  poly [ADP-ribose] polymerase tankyrase-1 isoform X1

      UniProtKB/TrEMBL
      E7EQ52, H0YAW5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      9959097..10187973 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361432.1XP_054217407.1  poly [ADP-ribose] polymerase tankyrase-1 isoform X6

      UniProtKB/TrEMBL
      E7EQ52
    2. XM_054361434.1XP_054217409.1  poly [ADP-ribose] polymerase tankyrase-1 isoform X8

      UniProtKB/TrEMBL
      E7EQ52
    3. XM_054361433.1XP_054217408.1  poly [ADP-ribose] polymerase tankyrase-1 isoform X7

    4. XM_054361431.1XP_054217406.1  poly [ADP-ribose] polymerase tankyrase-1 isoform X2

      UniProtKB/TrEMBL
      E7EQ52
    5. XM_054361430.1XP_054217405.1  poly [ADP-ribose] polymerase tankyrase-1 isoform X1

      UniProtKB/TrEMBL
      E7EQ52, H0YAW5