DDIT4 DNA damage inducible transcript 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DDIT4provided by HGNC
Official Full Name: DNA damage inducible transcript 4provided by HGNC
Primary source: HGNC:HGNC:24944
See related: Ensembl:ENSG00000168209 MIM:607729; AllianceGenome:HGNC:24944
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: Dig2; REDD1; REDD-1
Summary: Predicted to enable 14-3-3 protein binding activity. Involved in negative regulation of TOR signaling and response to hypoxia. Located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in ovary (RPKM 89.7), fat (RPKM 84.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q22.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (72273924..72276036)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (73144950..73147062)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (74033682..74035794)

Chromosome 10 - NC_000010.11 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 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?

RTP801 interacts with the tRNA ligase complex and dysregulates its RNA ligase activity in Alzheimer's disease.
Title: RTP801 interacts with the tRNA ligase complex and dysregulates its RNA ligase activity in Alzheimer's disease.
NLRP3 Inflammasome Priming in the Retina of Diabetic Mice Requires REDD1-Dependent Activation of GSK3beta.
Title: NLRP3 Inflammasome Priming in the Retina of Diabetic Mice Requires REDD1-Dependent Activation of GSK3β.
Pan-cancer analysis of DDIT4 identifying its prognostic value and function in acute myeloid leukemia.
Title: Pan-cancer analysis of DDIT4 identifying its prognostic value and function in acute myeloid leukemia.
Nuclear overexpression of DNA damage-inducible transcript 4 (DDIT4) is associated with aggressive tumor behavior in patients with pancreatic tumors.
Title: Nuclear overexpression of DNA damage-inducible transcript 4 (DDIT4) is associated with aggressive tumor behavior in patients with pancreatic tumors.
REDD1 (regulated in development and DNA damage 1) modulates the glucocorticoid receptor function in keratinocytes.
Title: REDD1 (regulated in development and DNA damage 1) modulates the glucocorticoid receptor function in keratinocytes.
DDIT4 Facilitates Lymph Node Metastasis via the Activation of NF-kappaB Pathway and Epithelial-Mesenchymal Transition.
Title: DDIT4 Facilitates Lymph Node Metastasis via the Activation of NF-κB Pathway and Epithelial-Mesenchymal Transition.
REDD1-dependent GSK3beta dephosphorylation promotes NF-kappaB activation and macrophage infiltration in the retina of diabetic mice.
Title: REDD1-dependent GSK3β dephosphorylation promotes NF-κB activation and macrophage infiltration in the retina of diabetic mice.
DDIT4 promotes malignancy of head and neck squamous cell carcinoma.
Title: DDIT4 promotes malignancy of head and neck squamous cell carcinoma.
PERK/ATF4-dependent expression of the stress response protein REDD1 promotes proinflammatory cytokine expression in the heart of obese mice.
Title: PERK/ATF4-dependent expression of the stress response protein REDD1 promotes proinflammatory cytokine expression in the heart of obese mice.
REDD1 Ablation Attenuates the Development of Renal Complications in Diabetic Mice.
Title: REDD1 Ablation Attenuates the Development of Renal Complications in Diabetic Mice.

Submit: New GeneRIF Correction See all GeneRIFs (97)

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
A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. 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

G19827 (e-PCR)
- UniSTS:39821

A001Z38 (e-PCR)
- UniSTS:39822

RH78653 (e-PCR)
- UniSTS:50321

SHGC-31334 (e-PCR)
- UniSTS:55728

RH44306 (e-PCR)
- UniSTS:46046

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 14-3-3 protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in brain development	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to dexamethasone stimulus	IEA Inferred from Electronic Annotation more info
involved_in defense response to virus	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of TOR signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of TOR signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of glycolytic process	IEA Inferred from Electronic Annotation more info
involved_in neuron differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in neurotrophin TRK receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein-containing complex disassembly	IEA Inferred from Electronic Annotation more info
involved_in reactive oxygen species metabolic process	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to hypoxia	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: DNA damage-inducible transcript 4 protein

Names: HIF-1 responsive protein RTP801; protein regulated in development and DNA damage response 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.