TXNIP thioredoxin interacting protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: TXNIPprovided by HGNC
Official Full Name: thioredoxin interacting proteinprovided by HGNC
Primary source: HGNC:HGNC:16952
See related: Ensembl:ENSG00000265972 MIM:606599; AllianceGenome:HGNC:16952
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: THIF; VDUP1; ARRDC6; HHCPA78; EST01027
Summary: This gene encodes a thioredoxin-binding protein that is a member of the alpha arrestin protein family. Thioredoxin is a thiol-oxidoreductase that is a major regulator of cellular redox signaling which protects cells from oxidative stress. This protein inhibits the antioxidative function of thioredoxin resulting in the accumulation of reactive oxygen species and cellular stress. This protein also functions as a regulator of cellular metabolism and of endoplasmic reticulum (ER) stress. This protein may also function as a tumor suppressor. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
Expression: Ubiquitous expression in fat (RPKM 1044.5), spleen (RPKM 514.7) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q21.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (145992435..145996579, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (145109270..145113414, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (145438490..145442635)

Chromosome 1 - NC_000001.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Targeting TXNIP in endothelial progenitors mitigates IL-8-induced neutrophil recruitment under metabolic stress.
Title: Targeting TXNIP in endothelial progenitors mitigates IL-8-induced neutrophil recruitment under metabolic stress.
TXNIP mediated by EZH2 regulated osteogenic differentiation in hBmscs and MC3T3-E1 cells through the modulation of oxidative stress and PI3K/AKT/Nrf2 pathway.
Title: TXNIP mediated by EZH2 regulated osteogenic differentiation in hBmscs and MC3T3-E1 cells through the modulation of oxidative stress and PI3K/AKT/Nrf2 pathway.
Increased level of TXNIP and nuclear translocation of TXN is associated with end stage renal disease and development of multiplex renal tumours.
Title: Increased level of TXNIP and nuclear translocation of TXN is associated with end stage renal disease and development of multiplex renal tumours.
Association between DNA methylation levels of thioredoxin-interacting protein (TXNIP) and changes in glycemic traits: a longitudinal population-based study.
Title: Association between DNA methylation levels of thioredoxin-interacting protein (TXNIP) and changes in glycemic traits: a longitudinal population-based study.
A novel link between melatonin and circ_0005753/PTBP1/TXNIP regulatory network in the modulation of osteogenic potential in mesenchymal stem cells.
Title: A novel link between melatonin and circ_0005753/PTBP1/TXNIP regulatory network in the modulation of osteogenic potential in mesenchymal stem cells.
Serum carotenoid levels are positively associated with DNA methylation of thioredoxin-interacting protein.
Title: Serum carotenoid levels are positively associated with DNA methylation of thioredoxin-interacting protein.
TXNIP deficiency attenuates renal fibrosis by modulating mTORC1/TFEB-mediated autophagy in diabetic kidney disease.
Title: TXNIP deficiency attenuates renal fibrosis by modulating mTORC1/TFEB-mediated autophagy in diabetic kidney disease.
Knockdown of TXNIP alleviates gestational diabetes mellitus by activating autophagy to regulate cell proliferation and apoptosis in high glucose-treated trophoblasts.
Title: Knockdown of TXNIP alleviates gestational diabetes mellitus by activating autophagy to regulate cell proliferation and apoptosis in high glucose-treated trophoblasts.
Amino acid deprivation induces TXNIP expression by NRF2 downregulation.
Title: Amino acid deprivation induces TXNIP expression by NRF2 downregulation.
Linc00657 promoted pyroptosis in THP-1-derived macrophages and exacerbated atherosclerosis via the miR-106b-5p/TXNIP/NLRP3 axis.
Title: Linc00657 promoted pyroptosis in THP-1-derived macrophages and exacerbated atherosclerosis via the miR-106b-5p/TXNIP/NLRP3 axis.

Submit: New GeneRIF Correction See all GeneRIFs (253)

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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	HIV-1 Vpr upregulates the gene expression of TXNIP in human monocyte-derived dendritic cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:484353

SHGC-63512 (e-PCR)
- UniSTS:13320

SHGC-63511 (e-PCR)
- UniSTS:78863

AB062986 (e-PCR)
- UniSTS:479759

RH98174 (e-PCR)
- UniSTS:85284

D1S1737E (e-PCR)
- UniSTS:150316

WI-20055 (e-PCR)
- UniSTS:29228

D1S3326 (e-PCR)
- UniSTS:6969

Bda44g03 (e-PCR)
- UniSTS:87118

D1S1903E (e-PCR)
- UniSTS:151128

SHGC-75407 (e-PCR)
- UniSTS:57971

A002O32 (e-PCR)
- UniSTS:46196

D1S1756E (e-PCR)
- UniSTS:150432

RH70140 (e-PCR)
- UniSTS:31942

RH50354 (e-PCR)
- UniSTS:57573

RH64581 (e-PCR)
- UniSTS:75253

SHGC-133065 (e-PCR)
- UniSTS:170997

RH104508 (e-PCR)
- UniSTS:98808

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables enzyme inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to oxidised low-density lipoprotein particle stimulus	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to tumor cell	IDA Inferred from Direct Assay more info	PubMed
involved_in inflammatory response	TAS Traceable Author Statement more info	PubMed
involved_in keratinocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell division	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in platelet-derived growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in protein import into nucleus	IEA Inferred from Electronic Annotation more info
involved_in protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in response to calcium ion	IEA Inferred from Electronic Annotation more info
involved_in response to estradiol	IEA Inferred from Electronic Annotation more info
involved_in response to glucose	IEA Inferred from Electronic Annotation more info
involved_in response to hydrogen peroxide	IEA Inferred from Electronic Annotation more info
involved_in response to mechanical stimulus	IEA Inferred from Electronic Annotation more info
involved_in response to oxidative stress	IDA Inferred from Direct Assay more info	PubMed
involved_in response to progesterone	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: thioredoxin-interacting protein

Names: thioredoxin binding protein 2; upregulated by 1,25-dihydroxyvitamin D-3; vitamin D3 up-regulated protein 1

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_001313972.2 → NP_001300901.1 thioredoxin-interacting protein isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate 5' most exon which results in the use of an alternate start codon compared to variant 1. The encoded isoform (2) has a distinct N-terminus compared to isoform 1.

Source sequence(s)

AC243547, AK304670, BQ030003

Consensus CDS

CCDS81368.1

UniProtKB/TrEMBL

B1ALI9

Related

ENSP00000396322.2, ENST00000425134.2

Conserved Domains (2) summary

pfam02752
Location:119 → 243

Arrestin_C; Arrestin (or S-antigen), C-terminal domain

cl22903
Location:27 → 97

Arrestin_N; Arrestin (or S-antigen), N-terminal domain
NM_006472.6 → NP_006463.3 thioredoxin-interacting protein isoform 1

See identical proteins and their annotated locations for NP_006463.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC243547, BC093704, BQ030003

Consensus CDS

CCDS72876.1

UniProtKB/Swiss-Prot

B4E3D3, Q16226, Q6PML0, Q9BXG9, Q9H3M7

UniProtKB/TrEMBL

B4DVM7

Related

ENSP00000462521.1, ENST00000582401.6

Conserved Domains (2) summary

smart01017
Location:175 → 298

Arrestin_C; Arrestin (or S-antigen), C-terminal domain

cl22903
Location:10 → 152

Arrestin_N; Arrestin (or S-antigen), N-terminal domain