Human Gene GADD45A (uc001ddz.2) Description and Page Index
  Description: Homo sapiens growth arrest and DNA-damage-inducible, alpha (GADD45A), transcript variant 1, mRNA.
RefSeq Summary (NM_001924): This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The DNA damage-induced transcription of this gene is mediated by both p53-dependent and -independent mechanisms. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Dec 2010].
Transcript (Including UTRs)
   Position: hg19 chr1:68,150,860-68,154,021 Size: 3,162 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr1:68,151,178-68,153,457 Size: 2,280 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:68,150,860-68,154,021)mRNA (may differ from genome)Protein (165 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: GA45A_HUMAN
DESCRIPTION: RecName: Full=Growth arrest and DNA damage-inducible protein GADD45 alpha; AltName: Full=DNA damage-inducible transcript 1 protein; Short=DDIT-1;
FUNCTION: In T-cells, functions as a regulator of p38 MAPKs by inhibiting p88 phosphorylation and activity (By similarity). Might affect PCNA interaction with some CDK (cell division protein kinase) complexes; stimulates DNA excision repair in vitro and inhibits entry of cells into S phase.
SUBUNIT: Interacts with MAPK14 (By similarity). Predominantly monomeric but also forms dimers and other oligomers as concentration increases. Interacts with GADD45GIP1. Interacts weakly with PCNA. Interacts with AURKA, likely to compete with dimerization.
INTERACTION: Q9GZX7:AICDA; NbExp=5; IntAct=EBI-448167, EBI-3834328; Q8TAE8:GADD45GIP1; NbExp=3; IntAct=EBI-448167, EBI-372506; P80303:NUCB2; NbExp=2; IntAct=EBI-448167, EBI-2296670; Q9Y371:SH3GLB1; NbExp=2; IntAct=EBI-448167, EBI-2623095; Q13569:TDG; NbExp=3; IntAct=EBI-448167, EBI-348333;
SUBCELLULAR LOCATION: Nucleus.
INDUCTION: By UV irradiation, X-rays, growth arrest and alkylating agents. The induction is mediated by some kinase(s) other than PKC.
SIMILARITY: Belongs to the GADD45 family.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/gadd45a/";
WEB RESOURCE: Name=Wikipedia; Note=GADD45A entry; URL="http://en.wikipedia.org/wiki/GADD45A";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): GADD45A
CDC HuGE Published Literature: GADD45A

-  MalaCards Disease Associations
  MalaCards Gene Search: GADD45A
Diseases sorted by gene-association score: small intestine neuroendocrine neoplasm (11), ataxia-telangiectasia (5), prostate disease (4), pancreatic cancer (3), lung cancer (3), breast cancer (2), colorectal cancer (2), esophageal cancer (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 97.75 RPKM in Artery - Aorta
Total median expression: 1161.13 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 -161.50318-0.508 Picture PostScript Text
3' UTR -114.27564-0.203 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
IPR024824 - GADD45
IPR004038 - Ribosomal_L7Ae/L30e/S12e/Gad45

Pfam Domains:
PF01248 - Ribosomal protein L7Ae/L30e/S12e/Gadd45 family

SCOP Domains:
55315 - L30e-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help

2KG4
- NMR MuPIT


ModBase Predicted Comparative 3D Structure on P24522
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 orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding
GO:0005515 protein binding
GO:0019900 kinase binding
GO:0042803 protein homodimerization activity
GO:0046982 protein heterodimerization activity
GO:0047485 protein N-terminus binding

Biological Process:
GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity
GO:0000185 activation of MAPKKK activity
GO:0006281 DNA repair
GO:0006469 negative regulation of protein kinase activity
GO:0006915 apoptotic process
GO:0006950 response to stress
GO:0006974 cellular response to DNA damage stimulus
GO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest
GO:0007049 cell cycle
GO:0007050 cell cycle arrest
GO:0007098 centrosome cycle
GO:0042770 signal transduction in response to DNA damage
GO:0043065 positive regulation of apoptotic process
GO:0046330 positive regulation of JNK cascade
GO:0051726 regulation of cell cycle
GO:0071260 cellular response to mechanical stimulus
GO:0071479 cellular response to ionizing radiation
GO:0071850 mitotic cell cycle arrest
GO:1900745 positive regulation of p38MAPK cascade
GO:2000379 positive regulation of reactive oxygen species metabolic process

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0016607 nuclear speck


-  Descriptions from all associated GenBank mRNAs
  AK314991 - Homo sapiens cDNA, FLJ95917, Homo sapiens growth arrest and DNA-damage-inducible, alpha(GADD45A), mRNA.
M60974 - Human growth arrest and DNA-damage-inducible protein (gadd45) mRNA, complete cds.
JD454126 - Sequence 435150 from Patent EP1572962.
DQ008445 - Homo sapiens growth arrest and DNA-damage-inducible 45 alpha (GADD45A) mRNA, complete cds, alternatively spliced.
EF581092 - Homo sapiens growth arrest and DNA-damage-inducible 45 alpha (GADD45A) mRNA, complete cds, alternatively spliced.
EF614238 - Homo sapiens growth arrest and DNA-damage-inducible 45 alpha (GADD45A) mRNA, complete sequence, alternatively spliced.
BC011757 - Homo sapiens growth arrest and DNA-damage-inducible, alpha, mRNA (cDNA clone MGC:19584 IMAGE:3530326), complete cds.
JD205009 - Sequence 186033 from Patent EP1572962.
JD461394 - Sequence 442418 from Patent EP1572962.
JD497057 - Sequence 478081 from Patent EP1572962.
JD139904 - Sequence 120928 from Patent EP1572962.
AB463698 - Synthetic construct DNA, clone: pF1KB8372, Homo sapiens GADD45A gene for growth arrest and DNA-damage-inducible, alpha, without stop codon, in Flexi system.
AM393439 - Synthetic construct Homo sapiens clone IMAGE:100002579 for hypothetical protein (GADD45A gene).
DQ893229 - Synthetic construct clone IMAGE:100005859; FLH195430.01X; RZPDo839C04152D growth arrest and DNA-damage-inducible, alpha (GADD45A) gene, encodes complete protein.
DQ896558 - Synthetic construct Homo sapiens clone IMAGE:100011018; FLH195426.01L; RZPDo839C04151D growth arrest and DNA-damage-inducible, alpha (GADD45A) gene, encodes complete protein.
KJ891036 - Synthetic construct Homo sapiens clone ccsbBroadEn_00430 GADD45A gene, encodes complete protein.
JD025741 - Sequence 6765 from Patent EP1572962.
JD032701 - Sequence 13725 from Patent EP1572962.
JD154861 - Sequence 135885 from Patent EP1572962.
JD102309 - Sequence 83333 from Patent EP1572962.
JD449371 - Sequence 430395 from Patent EP1572962.
JD535217 - Sequence 516241 from Patent EP1572962.
JD544765 - Sequence 525789 from Patent EP1572962.
JD350146 - Sequence 331170 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04010 - MAPK signaling pathway
hsa04110 - Cell cycle
hsa04115 - p53 signaling pathway

BioCarta from NCI Cancer Genome Anatomy Project
h_g2Pathway - Cell Cycle: G2/M Checkpoint
h_atmPathway - ATM Signaling Pathway
h_p53Pathway - p53 Signaling Pathway
h_p53hypoxiaPathway - Hypoxia and p53 in the Cardiovascular system

Reactome (by CSHL, EBI, and GO)

Protein P24522 (Reactome details) participates in the following event(s):

R-HSA-6791109 GADD45A binds PCNA
R-HSA-6791235 GADD45A binds AURKA
R-HSA-6804114 TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
R-HSA-6791312 TP53 Regulates Transcription of Cell Cycle Genes
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: DDIT1, GA45A_HUMAN, GADD45, NM_001924, NP_001915, P24522, Q5TCA7, Q5TCA8
UCSC ID: uc001ddz.2
RefSeq Accession: NM_001924
Protein: P24522 (aka GA45A_HUMAN or GA45_HUMAN)
CCDS: CCDS640.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001924.3
exon count: 4CDS single in 3' UTR: no RNA size: 1398
ORF size: 498CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1196.00frame shift in genome: no % Coverage: 98.71
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.