TNKS1BP1 tankyrase 1 binding protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TNKS1BP1provided by HGNC
Official Full Name: tankyrase 1 binding protein 1provided by HGNC
Primary source: HGNC:HGNC:19081
See related: Ensembl:ENSG00000149115 MIM:607104
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: TAB182
Expression: Ubiquitous expression in skin (RPKM 32.4), fat (RPKM 31.8) and 24 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 11q12.1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
109.20200815	current	GRCh38.p13 (GCF_000001405.39)	11	NC_000011.10 (57299631..57324952, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (57067103..57092485, complement)

Chromosome 11 - NC_000011.10 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?

Results found that TNKS1BP1 was upregulated in human lung adenocarcinoma tissues, and regulates genome stability, mainly through affecting the homologous recombination pathway of DNA double-strand breaks. These results indicate that overexpression of TNKS1BP1 might affect the outcomes of lung cancer patients to chemotherapy and radiotherapy.
Title: Overexpression of TNKS1BP1 in lung cancers and its involvement in homologous recombination pathway of DNA double-strand breaks.
In clinical samples of pancreatic cancer, TNKS1BP1 expression was reduced in invasive regions. We propose that the tankyrase-TNKS1BP1 axis constitutes a posttranslational modulator of cell invasion whose aberration promotes cancer malignancy
Title: Tankyrase-Binding Protein TNKS1BP1 Regulates Actin Cytoskeleton Rearrangement and Cancer Cell Invasion.
TNKS1BP1 has a role in DNA double-strand break repair though DNA-PKcs autophosphorylation which is dependent on PARP-1
Title: TNKS1BP1 functions in DNA double-strand break repair though facilitating DNA-PKcs autophosphorylation dependent on PARP-1.
TNKS-1 mRNA in urine sediment from patients with bladder TCC correlated with tumor stage, and higher preoperative levels were associated with increased risk of early recurrence.
Title: Tankyrase-1 mRNA expression in bladder cancer and paired urine sediment: preliminary experience.
The telomeric poly(ADP-ribose) polymerase, tankyrase 1, contains multiple binding sites for telomeric repeat binding factor 1 (TRF1) and a novel acceptor, 182-kDa tankyrase-binding protein (TAB182).
Title: The telomeric poly(ADP-ribose) polymerase, tankyrase 1, contains multiple binding sites for telomeric repeat binding factor 1 (TRF1) and a novel acceptor, 182-kDa tankyrase-binding protein (TAB182).
Identification of a tankyrase-binding motif in this protein.
Title: Identification of a tankyrase-binding motif shared by IRAP, TAB182, and human TRF1 but not mouse TRF1. NuMA contains this RXXPDG motif and is a novel tankyrase partner.
We also demonstrate a requirement for tankyrase-1 in the assembly of bipolar spindles, and identify the spindle-pole protein NuMA as a substrate for covalent modification by tankyrase-1.
Title: Tankyrase-1 polymerization of poly(ADP-ribose) is required for spindle structure and function.
Data show that tankyrase 1 inhibition in human cancer cells enhances telomere shortening by a telomerase inhibitor and hastens cell death.
Title: Tankyrase 1 as a target for telomere-directed molecular cancer therapeutics.

Submit: New GeneRIF Correction

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

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

RH47161 (e-PCR)
- UniSTS:9514

GDB:197864 (e-PCR)
- UniSTS:155978

RH17745 (e-PCR)
- UniSTS:64877

SSRP1 (e-PCR)
- UniSTS:14484

D11S4373 (e-PCR)
- UniSTS:77461

D11S446 (e-PCR)
- UniSTS:148127

SHGC-30227 (e-PCR)
- UniSTS:81589

WI-9146 (e-PCR)
- UniSTS:32975

D11S446 (e-PCR)
- UniSTS:85236

Homology

Homologs of the TNKS1BP1 gene: The TNKS1BP1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat.
Orthologs from Annotation Pipeline: 225 organisms have orthologs with human gene TNKS1BP1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ankyrin repeat binding	IMP Inferred from Mutant Phenotype more info	PubMed
ankyrin repeat binding	IPI Inferred from Physical Interaction more info	PubMed
cadherin binding	HDA more info	PubMed
enzyme binding	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein-containing complex binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	TAS Traceable Author Statement more info
cellular response to ionizing radiation	IMP Inferred from Mutant Phenotype more info	PubMed
double-strand break repair	IMP Inferred from Mutant Phenotype more info	PubMed
nuclear-transcribed mRNA poly(A) tail shortening	TAS Traceable Author Statement more info
positive regulation of peptidyl-serine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of peptidyl-threonine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of protein autophosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
telomere maintenance via telomerase	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
CCR4-NOT complex	IDA Inferred from Direct Assay more info	PubMed
adherens junction	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytoskeleton	IEA Inferred from Electronic Annotation more info
cytosol	TAS Traceable Author Statement more info
nuclear heterochromatin	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: 182 kDa tankyrase-1-binding protein

Names: tankyrase 1 binding protein 1, 182kDa; tankyrase 1-binding protein of 182 kDa; testis secretory sperm-binding protein Li 206a

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_033396.3 → NP_203754.2 182 kDa tankyrase-1-binding protein

See identical proteins and their annotated locations for NP_203754.2

Status: VALIDATED

Source sequence(s)

AA614752, AB051528, AF441771, AP000781, CT003184

Consensus CDS

CCDS7951.1

UniProtKB/Swiss-Prot

Q9C0C2

UniProtKB/TrEMBL

A0A024R542

Related

ENSP00000350990.3, ENST00000358252.8

Conserved Domains (1) summary

pfam15327
Location:1557 → 1721

Tankyrase_bdg_C; Tankyrase binding protein C terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p13 Primary Assembly

Range

57299631..57324952 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006718725.3 → XP_006718788.1 182 kDa tankyrase-1-binding protein isoform X1

See identical proteins and their annotated locations for XP_006718788.1

UniProtKB/Swiss-Prot

Q9C0C2

UniProtKB/TrEMBL

A0A024R542

Conserved Domains (1) summary

pfam15327
Location:1557 → 1721

Tankyrase_bdg_C; Tankyrase binding protein C terminal domain
XM_011545325.3 → XP_011543627.1 182 kDa tankyrase-1-binding protein isoform X2

Conserved Domains (2) summary

PHA03247
Location:95 → 463

PHA03247; large tegument protein UL36; Provisional

PRK07764
Location:273 → 691

PRK07764; DNA polymerase III subunits gamma and tau; Validated