Human Gene GATAD1 (ENST00000287957.5_5) from GENCODE V47lift37
  Description: GATA zinc finger domain containing 1, transcript variant 2 (from RefSeq NR_052016.2)
Gencode Transcript: ENST00000287957.5_5
Gencode Gene: ENSG00000157259.8_9
Transcript (Including UTRs)
   Position: hg19 chr7:92,076,796-92,089,389 Size: 12,594 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr7:92,077,044-92,085,876 Size: 8,833 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:92,076,796-92,089,389)mRNA (may differ from genome)Protein (269 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GATD1_HUMAN
DESCRIPTION: RecName: Full=GATA zinc finger domain-containing protein 1; AltName: Full=Ocular development-associated gene protein;
FUNCTION: Component of some chromatin complex recruited to chromatin sites methylated 'Lys-4' of histone H3 (H3K4me).
SUBUNIT: Component of a chromatin complex, at least composed of KDM5A, GATAD1 and EMSY.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Ubiquitously expressed among various tissue types. Expressed in left ventricular myocytes.
DISEASE: Defects in GATAD1 are the cause of cardiomyopathy, dilated type 2B (CMD2B) [MIM:614672]. CMD2B is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
SIMILARITY: Contains 1 GATA-type zinc finger.
SEQUENCE CAUTION: Sequence=AAB46345.1; Type=Erroneous gene model prediction;

-  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: GATAD1
Diseases sorted by gene-association score: cardiomyopathy, dilated, 2b* (1279), gatad1-related dilated cardiomyopathy* (500), familial isolated dilated cardiomyopathy* (55), cardiomyopathy (6), dilated cardiomyopathy (3)
* = Manually curated disease association

-  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: 34.17 RPKM in Cervix - Endocervix
Total median expression: 805.51 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 -120.70248-0.487 Picture PostScript Text
3' UTR -1038.403513-0.296 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
IPR000679 - Znf_GATA
IPR013088 - Znf_NHR/GATA

SCOP Domains:
57716 - Glucocorticoid receptor-like (DNA-binding domain)
75689 - Zinc-binding domain of translation initiation factor 2 beta

ModBase Predicted Comparative 3D Structure on Q8WUU5
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 Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0008270 zinc ion binding
GO:0043565 sequence-specific DNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0031497 chromatin assembly

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm


-  Descriptions from all associated GenBank mRNAs
  BC019350 - Homo sapiens GATA zinc finger domain containing 1, mRNA (cDNA clone MGC:13048 IMAGE:3626609), complete cds.
AK315788 - Homo sapiens cDNA, FLJ96905, highly similar to Homo sapiens GATA zinc finger domain containing 1 (GATAD1), mRNA.
AK026142 - Homo sapiens cDNA: FLJ22489 fis, clone HRC10951.
BC031091 - Homo sapiens GATA zinc finger domain containing 1, mRNA (cDNA clone MGC:33873 IMAGE:5275963), complete cds.
AB587458 - Synthetic construct DNA, clone: pF1KB8144, Homo sapiens GATAD1 gene for GATA zinc finger domain containing 1, without stop codon, in Flexi system.
KJ899374 - Synthetic construct Homo sapiens clone ccsbBroadEn_08768 GATAD1 gene, encodes complete protein.
AK098014 - Homo sapiens cDNA FLJ40695 fis, clone THYMU2025319.
AB073650 - Homo sapiens primary neuroblastoma cDNA, clone:Nbla00177, full insert sequence.
DQ591593 - Homo sapiens piRNA piR-58705, complete sequence.
JD337397 - Sequence 318421 from Patent EP1572962.
JD147296 - Sequence 128320 from Patent EP1572962.
JD244887 - Sequence 225911 from Patent EP1572962.
JD092033 - Sequence 73057 from Patent EP1572962.
JD534453 - Sequence 515477 from Patent EP1572962.
JD098872 - Sequence 79896 from Patent EP1572962.
JD276456 - Sequence 257480 from Patent EP1572962.
JD213565 - Sequence 194589 from Patent EP1572962.
JD467877 - Sequence 448901 from Patent EP1572962.
JD553187 - Sequence 534211 from Patent EP1572962.
JD504048 - Sequence 485072 from Patent EP1572962.
JD340871 - Sequence 321895 from Patent EP1572962.
JD340872 - Sequence 321896 from Patent EP1572962.
JD340873 - Sequence 321897 from Patent EP1572962.
JD500538 - Sequence 481562 from Patent EP1572962.
JD500537 - Sequence 481561 from Patent EP1572962.
JD358170 - Sequence 339194 from Patent EP1572962.
JD556428 - Sequence 537452 from Patent EP1572962.
JD556427 - Sequence 537451 from Patent EP1572962.
JD522361 - Sequence 503385 from Patent EP1572962.
JD522360 - Sequence 503384 from Patent EP1572962.
JD138017 - Sequence 119041 from Patent EP1572962.
JD138015 - Sequence 119039 from Patent EP1572962.
JD138016 - Sequence 119040 from Patent EP1572962.
JD159137 - Sequence 140161 from Patent EP1572962.
JD209376 - Sequence 190400 from Patent EP1572962.
JD440972 - Sequence 421996 from Patent EP1572962.
JD063505 - Sequence 44529 from Patent EP1572962.
JD366754 - Sequence 347778 from Patent EP1572962.
JD324816 - Sequence 305840 from Patent EP1572962.
JD518080 - Sequence 499104 from Patent EP1572962.
JD117313 - Sequence 98337 from Patent EP1572962.
JD171349 - Sequence 152373 from Patent EP1572962.
JD509986 - Sequence 491010 from Patent EP1572962.
JD203228 - Sequence 184252 from Patent EP1572962.
DQ579944 - Homo sapiens piRNA piR-48056, complete sequence.
JD389029 - Sequence 370053 from Patent EP1572962.
JD116680 - Sequence 97704 from Patent EP1572962.
JD538367 - Sequence 519391 from Patent EP1572962.
JD144680 - Sequence 125704 from Patent EP1572962.
JD543277 - Sequence 524301 from Patent EP1572962.
JD478591 - Sequence 459615 from Patent EP1572962.
JD463837 - Sequence 444861 from Patent EP1572962.
JD148326 - Sequence 129350 from Patent EP1572962.
JD249883 - Sequence 230907 from Patent EP1572962.
JD354356 - Sequence 335380 from Patent EP1572962.
JD394804 - Sequence 375828 from Patent EP1572962.
JD432448 - Sequence 413472 from Patent EP1572962.
JD134392 - Sequence 115416 from Patent EP1572962.
JD422220 - Sequence 403244 from Patent EP1572962.
JD291753 - Sequence 272777 from Patent EP1572962.
JD284780 - Sequence 265804 from Patent EP1572962.
JD340772 - Sequence 321796 from Patent EP1572962.
JD417781 - Sequence 398805 from Patent EP1572962.
JD430574 - Sequence 411598 from Patent EP1572962.
JD529935 - Sequence 510959 from Patent EP1572962.
JD435550 - Sequence 416574 from Patent EP1572962.
JD325462 - Sequence 306486 from Patent EP1572962.
JD066625 - Sequence 47649 from Patent EP1572962.
JD366745 - Sequence 347769 from Patent EP1572962.
JD366746 - Sequence 347770 from Patent EP1572962.
JD518067 - Sequence 499091 from Patent EP1572962.
JD504101 - Sequence 485125 from Patent EP1572962.
JD038688 - Sequence 19712 from Patent EP1572962.
JD139996 - Sequence 121020 from Patent EP1572962.
JD374167 - Sequence 355191 from Patent EP1572962.
JD268475 - Sequence 249499 from Patent EP1572962.
JD564657 - Sequence 545681 from Patent EP1572962.
JD181481 - Sequence 162505 from Patent EP1572962.
JD242298 - Sequence 223322 from Patent EP1572962.
JD205240 - Sequence 186264 from Patent EP1572962.
JD407102 - Sequence 388126 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B2RE37, D6W5Q5, ENST00000287957.1, ENST00000287957.2, ENST00000287957.3, ENST00000287957.4, GATD1_HUMAN, NR_052016, ODAG, Q8N5Y5, Q8WUU5, Q99995, Q9H689, uc317kon.1, uc317kon.2
UCSC ID: ENST00000287957.5_5
RefSeq Accession: NM_021167.5
Protein: Q8WUU5 (aka GATD1_HUMAN)

-  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.