TOX4 TOX high mobility group box family member 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TOX4provided by HGNC
Official Full Name: TOX high mobility group box family member 4provided by HGNC
Primary source: HGNC:HGNC:20161
See related: Ensembl:ENSG00000092203 MIM:614032; AllianceGenome:HGNC:20161
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: LCP1; MIG7; C14orf92; KIAA0737
Summary: Predicted to enable chromatin DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in chromatin. Part of PTW/PP1 phosphatase complex. Colocalizes with chromosome, telomeric region. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: mouse all
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Genomic context

Location:: 14q11.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (21477195..21499170)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (15674564..15696534)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (21945354..21967314)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

TOX4 facilitates promoter-proximal pausing and C-terminal domain dephosphorylation of RNA polymerase II in human cells.
Title: TOX4 facilitates promoter-proximal pausing and C-terminal domain dephosphorylation of RNA polymerase II in human cells.
TOX4, an insulin receptor-independent regulator of hepatic glucose production, is activated in diabetic liver.
Title: TOX4, an insulin receptor-independent regulator of hepatic glucose production, is activated in diabetic liver.
a regulation of LEDGF interaction with chromatin by cellular partners of its PWWP domain could be involved in several processes linked to LEDGF tethering properties, such as lentiviral integration, DNA repair or transcriptional regulation
Title: TOX4 and NOVA1 proteins are partners of the LEDGF PWWP domain and affect HIV-1 replication.
The formation of vasculogenic mimicry is inhibited by reducing the expression of Mig-7 in gastric cancer cells.
Title: [Mig-7 enhances vasculogenic mimicry in gastric cancer cells].
Compared with TOX4, expression of TOX1, TOX2 and TOX3 in normal lung was 25, 44, and 88%lower, respectively, supporting the premise that reduced promoter activity confers increased susceptibility to methylation during lung carcinogenesis.
Title: Differential epigenetic regulation of TOX subfamily high mobility group box genes in lung and breast cancers.
interaction between TOX4 and platinated DNA
Title: TOX4 and its binding partners recognize DNA adducts generated by platinum anticancer drugs.
mammalian Wdr82 functions in a variety of cellular processes; PTW/PP1 phosphatase complex (PNUTS, Tox4, Wdr82, PP1) has a role in the regulation of chromatin structure during the transition from mitosis into interphase
Title: Identification and characterization of a novel human PP1 phosphatase complex.
the coordinated spatial and temporal regulation of LCP1 and PNUTS may be a novel mechanism to control the expression of genes that are critical for certain physiological and pathological processes.
Title: Langerhans cell protein 1 (LCP1) binds to PNUTS in the nucleus: implications for this complex in transcriptional regulation.

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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
Pr55(Gag)	gag	Cellular biotinylated TOX high mobility group box family member 4 (TOX4) is incorporated into HIV-1 Gag virus-like particles	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

RH44762 (e-PCR)
- UniSTS:32768

G36206 (e-PCR)
- UniSTS:33570

PMC156606P2 (e-PCR)
- UniSTS:271409

PMC156606P3 (e-PCR)
- UniSTS:271410

PMC156606P4 (e-PCR)
- UniSTS:271411

SHGC-64027 (e-PCR)
- UniSTS:31045

STS-W86221 (e-PCR)
- UniSTS:59220

RH25501 (e-PCR)
- UniSTS:87640

G35630 (e-PCR)
- UniSTS:44120

D15S1477 (e-PCR)
- UniSTS:474482

Homology

Homologs of the TOX4 gene: The TOX4 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, and frog.
Orthologs from Annotation Pipeline: 369 organisms have orthologs with human gene TOX4
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chromatin DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
part_of PTW/PP1 phosphatase complex	IDA Inferred from Direct Assay more info	PubMed
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: TOX high mobility group box family member 4

Names: epidermal Langerhans cell protein LCP1; migration-inducing protein 7

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_001303523.2 → NP_001290452.1 TOX high mobility group box family member 4 isoform 2

See identical proteins and their annotated locations for NP_001290452.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' end compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AK298555, AL161747, BC020292, DA334895, N63399

UniProtKB/Swiss-Prot

O94842

Conserved Domains (2) summary

COG5648
Location:117 → 283

NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]

cd00084
Location:200 → 265

HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...
NM_014828.4 → NP_055643.1 TOX high mobility group box family member 4 isoform 1

See identical proteins and their annotated locations for NP_055643.1

Status: VALIDATED

Description

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

Source sequence(s)

AL161747, BC020292, DA334895, N63399

Consensus CDS

CCDS32043.1

UniProtKB/Swiss-Prot

E7EV69, O94842

Related

ENSP00000393080.3, ENST00000448790.7

Conserved Domains (2) summary

COG5648
Location:140 → 306

NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]

cd00084
Location:223 → 288

HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...