Aliases for DDIT4 Gene

Aliases for DDIT4 Gene

  • DNA Damage Inducible Transcript 4 2 3 5
  • REDD-1 2 3 4
  • REDD1 2 3 4
  • Protein Regulated In Development And DNA Damage Response 1 3 4
  • DNA Damage-Inducible Transcript 4 Protein 3 4
  • HIF-1 Responsive Protein RTP801 3 4
  • RTP801 2 4
  • Dig2 2 3
  • DNA-Damage-Inducible Transcript 4 2
  • HIF-1 Responsive RTP801 2
  • FLJ20500 2
  • DDIT4 5

External Ids for DDIT4 Gene

Previous GeneCards Identifiers for DDIT4 Gene

  • GC00U914339
  • GC10P073379
  • GC10P073703
  • GC10P074033
  • GC10P068028

Summaries for DDIT4 Gene

GeneCards Summary for DDIT4 Gene

DDIT4 (DNA Damage Inducible Transcript 4) is a Protein Coding gene. Diseases associated with DDIT4 include Bladder Urothelial Carcinoma and Tuberous Sclerosis 1. Among its related pathways are mTOR signaling pathway (Pathway Interaction Database) and Gene Expression. Gene Ontology (GO) annotations related to this gene include 14-3-3 protein binding. An important paralog of this gene is DDIT4L.

UniProtKB/Swiss-Prot Summary for DDIT4 Gene

  • Regulates cell growth, proliferation and survival via inhibition of the activity of the mammalian target of rapamycin complex 1 (mTORC1). Inhibition of mTORC1 is mediated by a pathway that involves DDIT4/REDD1, AKT1, the TSC1-TSC2 complex and the GTPase RHEB. Plays an important role in responses to cellular energy levels and cellular stress, including responses to hypoxia and DNA damage. Regulates p53/TP53-mediated apoptosis in response to DNA damage via its effect on mTORC1 activity. Its role in the response to hypoxia depends on the cell type; it mediates mTORC1 inhibition in fibroblasts and thymocytes, but not in hepatocytes (By similarity). Required for mTORC1-mediated defense against viral protein synthesis and virus replication (By similarity). Inhibits neuronal differentiation and neurite outgrowth mediated by NGF via its effect on mTORC1 activity. Required for normal neuron migration during embryonic brain development. Plays a role in neuronal cell death.

Gene Wiki entry for DDIT4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DDIT4 Gene

Genomics for DDIT4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DDIT4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DDIT4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DDIT4

Top Transcription factor binding sites by QIAGEN in the DDIT4 gene promoter:
  • aMEF-2
  • Arnt
  • Brachyury
  • FOXD3
  • FOXF2
  • GR
  • GR-alpha
  • MEF-2A
  • Nkx2-5
  • p53

Genomic Locations for DDIT4 Gene

Genomic Locations for DDIT4 Gene
chr10:72,273,924-72,276,036
(GRCh38/hg38)
Size:
2,113 bases
Orientation:
Plus strand
chr10:74,033,677-74,035,797
(GRCh37/hg19)
Size:
2,121 bases
Orientation:
Plus strand

Genomic View for DDIT4 Gene

Genes around DDIT4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDIT4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DDIT4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DDIT4 Gene

Proteins for DDIT4 Gene

  • Protein details for DDIT4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NX09-DDIT4_HUMAN
    Recommended name:
    DNA damage-inducible transcript 4 protein
    Protein Accession:
    Q9NX09
    Secondary Accessions:
    • Q9H0S3

    Protein attributes for DDIT4 Gene

    Size:
    232 amino acids
    Molecular mass:
    25371 Da
    Quaternary structure:
    • Monomer. Interacts with BTRC. Identified in a complex with CUL4A, DDB1 and BTRC. Interacts with TXNIP; this inhibits the proteasomal degradation of DDIT4.

    Three dimensional structures from OCA and Proteopedia for DDIT4 Gene

neXtProt entry for DDIT4 Gene

Post-translational modifications for DDIT4 Gene

  • Phosphorylated by GSK3B; this promotes proteasomal degradation.
  • Polyubiquitinated by a DCX (DDB1-CUL4A-RBX1) E3 ubiquitin-protein ligase complex with BTRC as substrate-recognition component, leading to its proteasomal degradation.
  • Ubiquitination at Lys129, Lys188, and Lys220
  • Modification sites at PhosphoSitePlus

Other Protein References for DDIT4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DDIT4 Gene

Domains & Families for DDIT4 Gene

Gene Families for DDIT4 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DDIT4 Gene

InterPro:
Blocks:
  • RTP801, C-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for DDIT4 Gene

GenScript: Design optimal peptide antigens:
  • Protein regulated in development and DNA damage response 1 (DDIT4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NX09

UniProtKB/Swiss-Prot:

DDIT4_HUMAN :
  • Belongs to the DDIT4 family.
Family:
  • Belongs to the DDIT4 family.
genes like me logo Genes that share domains with DDIT4: view

Function for DDIT4 Gene

Molecular function for DDIT4 Gene

UniProtKB/Swiss-Prot Function:
Regulates cell growth, proliferation and survival via inhibition of the activity of the mammalian target of rapamycin complex 1 (mTORC1). Inhibition of mTORC1 is mediated by a pathway that involves DDIT4/REDD1, AKT1, the TSC1-TSC2 complex and the GTPase RHEB. Plays an important role in responses to cellular energy levels and cellular stress, including responses to hypoxia and DNA damage. Regulates p53/TP53-mediated apoptosis in response to DNA damage via its effect on mTORC1 activity. Its role in the response to hypoxia depends on the cell type; it mediates mTORC1 inhibition in fibroblasts and thymocytes, but not in hepatocytes (By similarity). Required for mTORC1-mediated defense against viral protein synthesis and virus replication (By similarity). Inhibits neuronal differentiation and neurite outgrowth mediated by NGF via its effect on mTORC1 activity. Required for normal neuron migration during embryonic brain development. Plays a role in neuronal cell death.
UniProtKB/Swiss-Prot Induction:
Up-regulated in fibroblasts upon ionizing radiation, via a TP53-dependent pathway. Up-regulated by TP63 in primary keratinocytes, and down-regulated during keratinocyte differentiation. Up-regulated upon DNA alkylation. Up-regulated by amyloid beta-peptide and retinoic acid. Up-regulated by hypoxia, via a PI3K and HIF1A-dependent but TP53/TP63-independent mechanism (at protein level).

Phenotypes From GWAS Catalog for DDIT4 Gene

Gene Ontology (GO) - Molecular Function for DDIT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0071889 14-3-3 protein binding IBA 21873635
genes like me logo Genes that share ontologies with DDIT4: view
genes like me logo Genes that share phenotypes with DDIT4: view

Animal Models for DDIT4 Gene

MGI Knock Outs for DDIT4:

Animal Model Products

CRISPR Products

miRNA for DDIT4 Gene

miRTarBase miRNAs that target DDIT4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDIT4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DDIT4 Gene

Localization for DDIT4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDIT4 Gene

Mitochondrion. Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DDIT4 gene
Compartment Confidence
cytosol 5
mitochondrion 4
nucleus 3
plasma membrane 2
extracellular 2
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DDIT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA --
GO:0005737 cytoplasm IDA 12453409
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with DDIT4: view

Pathways & Interactions for DDIT4 Gene

genes like me logo Genes that share pathways with DDIT4: view

Pathways by source for DDIT4 Gene

1 Qiagen pathway for DDIT4 Gene
  • mTOR Pathway
2 Cell Signaling Technology pathways for DDIT4 Gene
1 GeneTex pathway for DDIT4 Gene

SIGNOR curated interactions for DDIT4 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for DDIT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IDA 20166753
GO:0001764 neuron migration ISS --
GO:0006915 apoptotic process IBA 21873635
GO:0007420 brain development ISS --
GO:0009968 negative regulation of signal transduction IEA --
genes like me logo Genes that share ontologies with DDIT4: view

Drugs & Compounds for DDIT4 Gene

No Compound Related Data Available

Transcripts for DDIT4 Gene

mRNA/cDNA for DDIT4 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDIT4

Alternative Splicing Database (ASD) splice patterns (SP) for DDIT4 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c
SP1: -
SP2:
SP3: - -
SP4: -

Relevant External Links for DDIT4 Gene

GeneLoc Exon Structure for
DDIT4

Expression for DDIT4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DDIT4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DDIT4 Gene

This gene is overexpressed in Cardia (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DDIT4 Gene



Protein tissue co-expression partners for DDIT4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DDIT4

SOURCE GeneReport for Unigene cluster for DDIT4 Gene:

Hs.744875

mRNA Expression by UniProt/SwissProt for DDIT4 Gene:

Q9NX09-DDIT4_HUMAN
Tissue specificity: Broadly expressed, with lowest levels in brain, skeletal muscle and intestine. Up-regulated in substantia nigra neurons from Parkinson disease patients (at protein level).

Evidence on tissue expression from TISSUES for DDIT4 Gene

  • Nervous system(4.9)
  • Kidney(4.8)
  • Lung(4.2)
  • Eye(4)
  • Pancreas(3.6)
  • Intestine(3.1)
  • Muscle(3.1)
  • Liver(3)
  • Adrenal gland(2.9)
  • Heart(2.7)
  • Skin(2.7)
  • Bone marrow(2.7)
  • Lymph node(2.7)
  • Blood(2.7)
  • Spleen(2.6)
  • Stomach(2.5)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with DDIT4: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DDIT4 Gene

Orthologs for DDIT4 Gene

This gene was present in the common ancestor of animals.

Orthologs for DDIT4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DDIT4 30 31
  • 99.43 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DDIT4 30 31
  • 93.19 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DDIT4 30 31
  • 90.68 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ddit4 30 17 31
  • 87.34 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ddit4 30
  • 87.34 (n)
Oppossum
(Monodelphis domestica)
Mammalia DDIT4 31
  • 84 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DDIT4 31
  • 73 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DDIT4 31
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ddit4 30
  • 60.11 (n)
MGC76013 30
African clawed frog
(Xenopus laevis)
Amphibia MGC64453 30
Zebrafish
(Danio rerio)
Actinopterygii ddit4 30 31
  • 57.63 (n)
OneToOne
sbcb821 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10950 30
Fruit Fly
(Drosophila melanogaster)
Insecta chrb 31
  • 15 (a)
ManyToMany
scyl 31
  • 15 (a)
ManyToMany
Species where no ortholog for DDIT4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for DDIT4 Gene

ENSEMBL:
Gene Tree for DDIT4 (if available)
TreeFam:
Gene Tree for DDIT4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DDIT4: view image

Paralogs for DDIT4 Gene

Paralogs for DDIT4 Gene

(1) SIMAP similar genes for DDIT4 Gene using alignment to 1 proteins:

  • DDIT4_HUMAN
genes like me logo Genes that share paralogs with DDIT4: view

Variants for DDIT4 Gene

Additional dbSNP identifiers (rs#s) for DDIT4 Gene

Structural Variations from Database of Genomic Variants (DGV) for DDIT4 Gene

Variant ID Type Subtype PubMed ID
esv2761604 CNV loss 21179565
nsv551514 CNV loss 21841781

Variation tolerance for DDIT4 Gene

Residual Variation Intolerance Score: 39% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.78; 16.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DDIT4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDIT4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DDIT4 Gene

Disorders for DDIT4 Gene

MalaCards: The human disease database

(4) MalaCards diseases for DDIT4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
bladder urothelial carcinoma
  • bladder transitional cell carcinoma
tuberous sclerosis 1
  • ts
skin atrophy
  • atrophic condition of skin
parkinson disease, late-onset
  • pd
- elite association - COSMIC cancer census association via MalaCards
Search DDIT4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DDIT4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with DDIT4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DDIT4 Gene

Publications for DDIT4 Gene

  1. The stress-inducted proteins RTP801 and RTP801L are negative regulators of the mammalian target of rapamycin pathway. (PMID: 15632201) Corradetti MN … Guan KL (The Journal of biological chemistry 2005) 3 4 23
  2. Regulation of mTOR and cell growth in response to energy stress by REDD1. (PMID: 15988001) Sofer A … Ellisen LW (Molecular and cellular biology 2005) 3 4 23
  3. Identification of a novel hypoxia-inducible factor 1-responsive gene, RTP801, involved in apoptosis. (PMID: 11884613) Shoshani T … Feinstein E (Molecular and cellular biology 2002) 2 3 4
  4. TXNIP potentiates Redd1-induced mTOR suppression through stabilization of Redd1. (PMID: 21460850) Jin HO … Park IC (Oncogene 2011) 3 4
  5. Structural analysis and functional implications of the negative mTORC1 regulator REDD1. (PMID: 20166753) Vega-Rubin-de-Celis S … Zhang X (Biochemistry 2010) 3 4

Products for DDIT4 Gene

  • Signalway Proteins for DDIT4

Sources for DDIT4 Gene