GATAD1 Gene
protein-coding GIFtS: 45
GCID: GC07P092076
|
|
GATA zinc finger domain containing 1
| |
Aliases
for GATAD1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| GATA Zinc Finger Domain Containing 11 2 | | FLJ224891 | | ODAG1 2 3 | | CMD2B2 | | RG083M05.21 2 | | GATA Zinc Finger Domain-Containing Protein 12 | | Ocular Development-Associated Gene Protein2 3 | | |
Export aliases for GATAD1 gene to outside databasesPrevious GC identifers: GC07P091722 GC07P091914 GC07P086685 |
Summaries
for GATAD1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for GATAD1:
The protein encoded by this gene contains a zinc finger at the N-terminus, and is thought to bind to a histonemodification site that regulates gene expression. Mutations in this gene have been associated with autosomal recessivedilated cardiomyopathy. Alternatively spliced transcript variants have been found for this gene. (provided by RefSeq,Jun 2012)
UniProtKB/Swiss-Prot: GATD1_HUMAN, Q8WUU5Function: Component of some chromatin complex recruited to chromatin sites methylated 'Lys-4' of histone H3 (H3K4me)
|
Genomic Views
for GATAD1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000007.13 NC_018918.1 NT_007933.15 NT_079595.2
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the GATAD1 gene promoter:
Olf-1 HNF-4alpha2 Tal-1beta C/EBPalpha Evi-1 HNF-4alpha1 E47 GATA-1 RORalpha1 Pax-4a
Other transcription factors
Search SABiosciences Chromatin IP Primers for GATAD1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GATAD1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 7q21-q22 Ensembl cytogenetic band: 7q21.2 HGNC cytogenetic band: 7q21-q22GATAD1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 7 GeneLoc Exon Structure GeneLoc location for GC07P092076: view genomic region
(about GC identifiers)
Start:
|
92,076,765 bp from pter |
End:
|
92,088,742 bp from pter |
Size:
|
11,978 bases |
Orientation:
|
plus strand |
1 alternative location:
| Chr7+,CRA_TCAG 91,405,975-91,417,952 |
|
Proteins
for GATAD1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: GATD1_HUMAN, Q8WUU5 (See
protein sequence)Recommended Name: GATA zinc finger domain-containing protein 1 Size: 269 amino acids; 28690 Da
Subunit: Component of a chromatin complex, at least composed of KDM5A, GATAD1 and EMSY
Subcellular location: Nucleus
Sequence caution: Sequence=AAB46345.1; Type=Erroneous gene model prediction;
Secondary accessions: B2RE37 D6W5Q5 Q8N5Y5 Q99995 Q9H689Explore the universe of human proteins at neXtProt for GATAD1: NX_Q8WUU5
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8WUU5
GATAD1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_066990.3
ENSEMBL proteins: ENSP00000287957
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005634 | nucleus |
IDA | -- |
GATAD1 for ontologies About GeneDecksing
GATAD1 Antibody Products:
Assay Products for GATAD1: |
Protein
Domains /
Families
for GATAD1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
GATAD1 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q8WUU5ProtoNet protein and cluster: Q8WUU5 1 Blocks protein family: IPB000679 Zn-finger
UniProtKB/Swiss-Prot: GATD1_HUMAN, Q8WUU5Similarity: Contains 1 GATA-type zinc finger |
Function
for GATAD1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: GATD1_HUMAN, Q8WUU5Function: Component of some chromatin complex recruited to chromatin sites methylated 'Lys-4' of histone H3 (H3K4me)
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GATAD1
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GATAD1 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003700 | sequence-specific DNA binding transcription factor activity |
IEA | -- | | GO:0008270 | zinc ion binding |
IEA | -- | | GO:0043565 | sequence-specific DNA binding |
IEA | -- |
GATAD1 for ontologies About GeneDecksing
|
Pathways & Interactions
for GATAD1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GATAD1
STRING Interaction
Network Preview (showing 3 interactants - click image to see more details)
3 Interacting proteins for GATAD1 (Q8WUU53 ENSP000002879574) via UniProtKB, MINT, STRING, and/or I2DAbout this table
|
Drugs & Compounds
for GATAD1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for GATAD1
Search CenterWatch for drugs/clinical trials and news about GATAD1 / GATD1
|
Transcripts
for GATAD1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for GATAD1 gene: NM_021167.4 Unigene Cluster for GATAD1: GATA zinc finger domain containing 1 Hs.21145 [show with all ESTs]Unigene Representative Sequence: NM_0211673 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000287957(uc003ulx.1) ENST00000493878 ENST00000465247
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GATAD1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GATAD1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: GATAD1 (NM_021167) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GATAD1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GATAD1 |
Additional cDNA sequence: AB073650.1 AK026142.1 AK098014.1 AK315788.1 BC019350.1 BC031091.1 NR_052016.1 11 DOTS entries: DT.97838302 DT.100026367 DT.121122871 DT.100751900 DT.212069 DT.100690999 DT.100026363 DT.97802877 DT.444284 DT.95075498 DT.95230749 24/192 AceView cDNA sequences (see all 192): AI494128 BU190338 BF056842 AW236132 AI299607 W37495 AA846154 AW662720 BF941244 AI433283 BM680266 AA379072 BM724071 AI146385 AA524256 BC019350 AL120665 AW806050 BQ682550 AA620587 BE218847 AI917195 CR622609 AK098014
GeneLoc Exon Structure
|
Expression
for GATAD1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| GATAD1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See GATAD1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GATAD1
SOURCE GeneReport for Unigene cluster: Hs.21145
UniProtKB/Swiss-Prot: GATD1_HUMAN, Q8WUU5Tissue specificity: Ubiquitously expressed among various tissue types. Expressed in left ventricular myocytes
SABiosciences Custom PCR Arrays for GATAD1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GATAD1
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GATAD1 |
Orthologs
for GATAD1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for GATAD1 gene from 6/18 species (see all 18) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Gatad11 , 5 |
GATA zinc finger domain containing 11, 5 |
87.47(n)1
93.23(a)1 |
|
5 (2.26 cM)5
672101 NM_026033.21 NP_080309.21
36329325 |
chicken
(Gallus gallus) |
Aves |
GATAD11 |
GATA zinc finger domain containing 1 |
78.98(n)
89.16(a) |
|
420551 XM_418653.3 XP_418653.3 |
lizard
(Anolis carolinensis) |
Reptilia |
GATAD16 |
-- |
87(a) |
1 ↔ 1 |
6(21222088-21230229) |
African clawed frog
(Xenopus laevis) |
Amphibia |
odag-pending-prov2 |
ocular development associated gene |
74.21(n) |
|
BC044066.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
AL714416.12 |
-- |
76.7(n) |
|
AL714416.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG133671 |
CG13367 |
47.53(n)
44.39(a) |
|
31013 NM_130495.2 NP_569851.2 |
ENSEMBL Gene Tree for GATAD1 (if available)
TreeFam Gene Tree for GATAD1 (if available) |
Paralogs
for GATAD1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for GATAD1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 7 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for GATAD1 (92076765 - 92088742 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for GATAD1: --
Human Gene Mutation Database (HGMD): GATAD1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GATAD1 |
|
Disorders
/ Diseases
for GATAD1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
GATAD1 for disorders About GeneDecksing
OMIM gene information: 614518
OMIM disorders: --
UniProtKB/Swiss-Prot: GATD1_HUMAN, Q8WUU5
Defects in GATAD1 are the cause of cardiomyopathy, dilated type 2B (CMD2B) [MIM:614672]. CMD2B is a disordercharacterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure andarrhythmia. Patients are at risk of premature death
6  diseases for GATAD1: About MalaCardsdilated cardiomyopathy ocular hypertension cardiomyopathy endocarditis
hypertension retinitis
Human Genome Epidemiology (HuGE) Navigator: GATAD1 (1 document)
Export disorders for GATAD1 gene to outside databases
|
Publications
for GATAD1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for GATAD1 gene, integrated from 9 sources (see all 17):
(articles sorted by number of sources associating them with GATAD1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Homozygosity mapping and exome sequencing reveal GATAD 1 mutation in autosomal recessive dilated cardiomyopathy. (PubMed id 21965549)1, 2 Theis J.L....Olson T.M. (2011)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
- Ocular development-associated gene (ODAG), a novel gene highly expressed in ocular development. (PubMed id 12062807)1, 3 Tsuruga T....Mishima H.K. (2002)
- Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)
- Quantitative interaction proteomics and genome-wide p rofiling of epigenetic histone marks and their readers. (PubMed id 20850016)2 Vermeulen M....Mann M. (2010)
- The role of height-associated loci identified in geno me wide association studies in the determination of pediatric stature. (PubMed id 20546612)1 Zhao J....Grant S.F. (2010)
- An atlas of combinatorial transcriptional regulation in mouse and man. (PubMed id 20211142)1 Ravasi T....Hayashizaki Y. (2010)
- Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1 Gudbjartsson D.F....Stefansson K. (2008)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
|
External Searches for GATAD1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing GATAD1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing GATAD1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing GATAD1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for GATAD1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for GATAD1 gene:
Search GeneIP for patents involving GATAD1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for GATAD1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for GATAD1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GATAD1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GATAD1 | | | OriGene Protein Over-expression Lysate for GATAD1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for GATAD1 | | OriGene 3'-UTR Clone for GATAD1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GATAD1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GATAD1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat GATAD1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GATAD1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GATAD1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GATAD1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GATAD1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GATAD1 |
| |
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| |  |  |  |  | | | | |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GATAD1 |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GATAD1 |
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