Human Gene DDIT3 (ENST00000346473.8_7) from GENCODE V47lift37
  Description: Multifunctional transcription factor in ER stress response. Plays an essential role in the response to a wide variety of cell stresses and induces cell cycle arrest and apoptosis in response to ER stress. Plays a dual role both as an inhibitor of CCAAT/enhancer- binding protein (C/EBP) function and as an activator of other genes. Acts as a dominant-negative regulator of C/EBP-induced transcription: dimerizes with members of the C/EBP family, impairs their association with C/EBP binding sites in the promoter regions, and inhibits the expression of C/EBP regulated genes. Positively regulates the transcription of TRIB3, IL6, IL8, IL23, TNFRSF10B/DR5, PPP1R15A/GADD34, BBC3/PUMA, BCL2L11/BIM and ERO1L. Negatively regulates; expression of BCL2 and MYOD1, ATF4-dependent transcriptional activation of asparagine synthetase (ASNS), CEBPA-dependent transcriptional activation of hepcidin (HAMP) and CEBPB-mediated expression of peroxisome proliferator-activated receptor gamma (PPARG). Inhibits the canonical Wnt signaling pathway by binding to TCF7L2/TCF4, impairing its DNA- binding properties and repressing its transcriptional activity. Plays a regulatory role in the inflammatory response through the induction of caspase-11 (CASP4/CASP11) which induces the activation of caspase-1 (CASP1) and both these caspases increase the activation of pro-IL1B to mature IL1B which is involved in the inflammatory response. (from UniProt Q53YD1)
Gencode Transcript: ENST00000346473.8_7
Gencode Gene: ENSG00000175197.13_12
Transcript (Including UTRs)
   Position: hg19 chr12:57,910,376-57,914,297 Size: 3,922 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr12:57,910,592-57,911,189 Size: 598 Coding Exon Count: 2 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:57,910,376-57,914,297)mRNA (may differ from genome)Protein (169 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsHGNC
MalacardsMGIPubMedUniProtKBWikipedia

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DDIT3
Diseases sorted by gene-association score: myxoid liposarcoma* (439), liposarcoma (18), liposarcoma of the ovary (5), myxoid liposarcoma of the ovary (5), fatty liver disease (5), ewing sarcoma (3), colorectal cancer (2), ovary sarcoma (2), atypical lipomatous tumor (1), mixed liposarcoma (1), chondroid lipoma (1), cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (1), chondrosarcoma, extraskeletal myxoid (1), spindle cell liposarcoma (1), spinocerebellar ataxia 14 (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 39.62 RPKM in Thyroid
Total median expression: 1068.05 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -40.60177-0.229 Picture PostScript Text
3' UTR -47.60216-0.220 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004827 - bZIP
IPR016670 - DNA_damage_induc_transcript_3

SCOP Domains:
75704 - Mitotic arrest deficient-like 1, Mad1
57959 - Leucine zipper domain

ModBase Predicted Comparative 3D Structure on Q53YD1
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006915 apoptotic process
GO:0006986 response to unfolded protein
GO:0007049 cell cycle
GO:0007050 cell cycle arrest
GO:0016055 Wnt signaling pathway

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  LF208930 - JP 2014500723-A/16433: Polycomb-Associated Non-Coding RNAs.
LF385493 - JP 2014500723-A/192996: Polycomb-Associated Non-Coding RNAs.
AY461580 - Homo sapiens BRL protein-like mRNA, complete sequence.
BC064556 - Homo sapiens DNA-damage-inducible transcript 3, mRNA (cDNA clone IMAGE:5550187), with apparent retained intron.
X71427 - Homo sapiens mRNA for FUS-CHOP protein fusion.
BC003637 - Homo sapiens DNA-damage-inducible transcript 3, mRNA (cDNA clone MGC:4154 IMAGE:3530545), complete cds.
S40706 - Homo sapiens Gadd153 (GADD153) mRNA, complete cds.
JD045253 - Sequence 26277 from Patent EP1572962.
X92120 - H.sapiens EWS/CHOP chimeric fragment.
EU831488 - Synthetic construct Homo sapiens clone HAIB:100066517; DKFZo008H0617 DNA-damage-inducible transcript 3 protein (DDIT3) gene, encodes complete protein.
AK316581 - Homo sapiens cDNA, FLJ94723, Homo sapiens DNA-damage-inducible transcript 3 (DDIT3), mRNA.
EU831575 - Synthetic construct Homo sapiens clone HAIB:100066604; DKFZo004H0618 DNA-damage-inducible transcript 3 protein (DDIT3) gene, encodes complete protein.
KJ896695 - Synthetic construct Homo sapiens clone ccsbBroadEn_06089 DDIT3 gene, encodes complete protein.
BT006691 - Homo sapiens DNA-damage-inducible transcript 3 mRNA, complete cds.
AB587582 - Synthetic construct DNA, clone: pF1KB8878, Homo sapiens DDIT3 gene for DNA-damage-inducible transcript 3, without stop codon, in Flexi system.
CU678550 - Synthetic construct Homo sapiens gateway clone IMAGE:100020178 5' read DDIT3 mRNA.
LF324171 - JP 2014500723-A/131674: Polycomb-Associated Non-Coding RNAs.
LF324170 - JP 2014500723-A/131673: Polycomb-Associated Non-Coding RNAs.
LF324167 - JP 2014500723-A/131670: Polycomb-Associated Non-Coding RNAs.
LF324166 - JP 2014500723-A/131669: Polycomb-Associated Non-Coding RNAs.
AJ301612 - Homo sapiens partial mRNA for FUS/CHOP chimaeric fusion protein (type 9 transcript variant).
JD086844 - Sequence 67868 from Patent EP1572962.
JD437319 - Sequence 418343 from Patent EP1572962.
BC107859 - Homo sapiens cDNA clone IMAGE:4687818.
LF324161 - JP 2014500723-A/131664: Polycomb-Associated Non-Coding RNAs.
JD064943 - Sequence 45967 from Patent EP1572962.
JD071556 - Sequence 52580 from Patent EP1572962.
JD532551 - Sequence 513575 from Patent EP1572962.
MA621070 - JP 2018138019-A/192996: Polycomb-Associated Non-Coding RNAs.
MA559748 - JP 2018138019-A/131674: Polycomb-Associated Non-Coding RNAs.
MA559747 - JP 2018138019-A/131673: Polycomb-Associated Non-Coding RNAs.
MA559744 - JP 2018138019-A/131670: Polycomb-Associated Non-Coding RNAs.
MA559743 - JP 2018138019-A/131669: Polycomb-Associated Non-Coding RNAs.
MA559738 - JP 2018138019-A/131664: Polycomb-Associated Non-Coding RNAs.
MA444507 - JP 2018138019-A/16433: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_p38mapkPathway - p38 MAPK Signaling Pathway

-  Other Names for This Gene
  Alternate Gene Symbols: DDIT3 , ENST00000346473.1, ENST00000346473.2, ENST00000346473.3, ENST00000346473.4, ENST00000346473.5, ENST00000346473.6, ENST00000346473.7, hCG_39661 , NR_182182, Q53YD1, Q53YD1_HUMAN, uc317xjk.1, uc317xjk.2
UCSC ID: ENST00000346473.8_7
RefSeq Accession: NM_004083.6
Protein: Q53YD1

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.