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P43694

- GATA4_HUMAN

UniProt

P43694 - GATA4_HUMAN

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Protein

Transcription factor GATA-4

Gene
GATA4
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Transcriptional activator that binds to the consensus sequence 5'-AGATAG-3' and plays a key role in cardiac development. Acts as a transcriptional activator of ANF in cooperation with NKX2-5. Promotes cardiac myocyte enlargement. Required during testicular development.2 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri217 – 24125GATA-type 1Add
BLAST
Zinc fingeri271 – 29525GATA-type 2Add
BLAST

GO - Molecular functioni

  1. activating transcription factor binding Source: BHF-UCL
  2. chromatin binding Source: Ensembl
  3. co-SMAD binding Source: BHF-UCL
  4. DNA binding Source: BHF-UCL
  5. enhancer sequence-specific DNA binding Source: Ensembl
  6. protein binding Source: UniProtKB
  7. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: Ensembl
  8. RNA polymerase II regulatory region sequence-specific DNA binding Source: Ensembl
  9. RNA polymerase II transcription factor binding transcription factor activity Source: BHF-UCL
  10. sequence-specific DNA binding Source: BHF-UCL
  11. sequence-specific DNA binding transcription factor activity Source: InterPro
  12. transcription coactivator activity Source: UniProtKB
  13. transcription factor binding Source: BHF-UCL
  14. transcription regulatory region DNA binding Source: UniProtKB
  15. zinc ion binding Source: InterPro

GO - Biological processi

  1. atrial septum morphogenesis Source: BHF-UCL
  2. atrial septum primum morphogenesis Source: BHF-UCL
  3. atrial septum secundum morphogenesis Source: BHF-UCL
  4. atrioventricular valve morphogenesis Source: Ensembl
  5. blood coagulation Source: Reactome
  6. BMP signaling pathway Source: Ensembl
  7. canonical Wnt signaling pathway Source: Ensembl
  8. cardiac muscle hypertrophy in response to stress Source: Ensembl
  9. cardiac right ventricle morphogenesis Source: BHF-UCL
  10. cardiac ventricle morphogenesis Source: BHF-UCL
  11. cell-cell signaling Source: BHF-UCL
  12. cell growth involved in cardiac muscle cell development Source: Ensembl
  13. cellular response to follicle-stimulating hormone stimulus Source: Ensembl
  14. cellular response to glucose stimulus Source: Ensembl
  15. embryonic digestive tract morphogenesis Source: Ensembl
  16. embryonic foregut morphogenesis Source: BHF-UCL
  17. embryonic heart tube anterior/posterior pattern specification Source: BHF-UCL
  18. endocardial cushion development Source: BHF-UCL
  19. endoderm development Source: BHF-UCL
  20. endoderm formation Source: Ensembl
  21. epithelial cell fate commitment Source: Ensembl
  22. gastrulation with mouth forming second Source: Ensembl
  23. heart looping Source: BHF-UCL
  24. intestinal epithelial cell differentiation Source: MGI
  25. in utero embryonic development Source: Ensembl
  26. lung lobe formation Source: Ensembl
  27. male gonad development Source: UniProtKB
  28. negative regulation of autophagy Source: Ensembl
  29. positive regulation of angiogenesis Source: BHF-UCL
  30. positive regulation of BMP signaling pathway Source: Ensembl
  31. positive regulation of cardiac muscle cell proliferation Source: Ensembl
  32. positive regulation of cardioblast differentiation Source: BHF-UCL
  33. positive regulation of transcription, DNA-templated Source: BHF-UCL
  34. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  35. positive regulation vascular endothelial growth factor production Source: BHF-UCL
  36. regulation of cardiac muscle cell contraction Source: Ensembl
  37. regulation of transcription, DNA-templated Source: BHF-UCL
  38. response to drug Source: BHF-UCL
  39. response to estrogen Source: Ensembl
  40. response to mechanical stimulus Source: Ensembl
  41. seminiferous tubule development Source: Ensembl
  42. Sertoli cell differentiation Source: Ensembl
  43. signal transduction involved in regulation of gene expression Source: Ensembl
  44. SMAD protein signal transduction Source: Ensembl
  45. spermatogenesis Source: Ensembl
  46. transcription from RNA polymerase II promoter Source: BHF-UCL
  47. ventricular cardiac muscle tissue development Source: Ensembl
  48. ventricular septum development Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_23824. Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP).
REACT_24970. Factors involved in megakaryocyte development and platelet production.
SignaLinkiP43694.

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor GATA-4
Alternative name(s):
GATA-binding factor 4
Gene namesi
Name:GATA4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:4173. GATA4.

Subcellular locationi

Nucleus 1 Publication

GO - Cellular componenti

  1. nucleoplasm Source: Reactome
  2. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Atrial septal defect 2 (ASD2) [MIM:607941]: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Patients show other heart abnormalities including ventricular and atrioventricular septal defects, pulmonary valve thickening or insufficiency of the cardiac valves. The disease is not associated with defects in the cardiac conduction system or non-cardiac abnormalities.
Note: The disease is caused by mutations affecting the gene represented in this entry.6 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti52 – 521S → F in ASD2. 1 Publication
VAR_038195
Natural varianti93 – 931G → A in ASD2; uncertain pathological significance. 1 Publication
VAR_067608
Natural varianti280 – 2801T → M in ASD2. 1 Publication
VAR_067611
Natural varianti296 – 2961G → C in ASD2. 1 Publication
VAR_067612
Natural varianti296 – 2961G → S in ASD2. 2 Publications
VAR_016204
Natural varianti310 – 3101M → V in ASD2. 1 Publication
VAR_067614
Natural varianti316 – 3161Q → E in ASD2. 1 Publication
VAR_067615
Natural varianti403 – 4031L → M in ASD2. 1 Publication
VAR_067618
Natural varianti425 – 4251D → N in ASD2; also found in a patient with TOF. 1 Publication
VAR_067621
Ventricular septal defect 1 (VSD1) [MIM:614429]: A common form of congenital cardiovascular anomaly that may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death.
Note: The disease is caused by mutations affecting the gene represented in this entry.5 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti6 – 61A → V in VSD1. 1 Publication
Corresponds to variant rs199922907 [ dbSNP | Ensembl ].
VAR_067605
Natural varianti43 – 431R → W in VSD1; significantly reduced activation of the NPPA promoter with the mutant protein compared to wild-type. 1 Publication
VAR_067606
Natural varianti46 – 461Missing in VSD1. 1 Publication
VAR_067607
Natural varianti163 – 1631P → S in AVSD4; also in a patient with VSD1 and a patient with TOF. 3 Publications
VAR_067610
Natural varianti296 – 2961G → R in VSD1. 1 Publication
VAR_067613
Natural varianti359 – 3591E → K in VSD1. 1 Publication
VAR_067617
Natural varianti407 – 4071P → Q in VSD1 and TOF. 2 Publications
Corresponds to variant rs115099192 [ dbSNP | Ensembl ].
VAR_067619
Natural varianti411 – 4111A → V in VSD1; uncertain pathological significance. 1 Publication
Corresponds to variant rs55633527 [ dbSNP | Ensembl ].
VAR_067620
Natural varianti429 – 4291S → T in VSD1. 1 Publication
VAR_067622
Natural varianti442 – 4421A → V in VSD1. 1 Publication
VAR_067623
Tetralogy of Fallot (TOF) [MIM:187500]: A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti118 – 1181A → AA in TOF. 1 Publication
VAR_067609
Natural varianti163 – 1631P → S in AVSD4; also in a patient with VSD1 and a patient with TOF. 3 Publications
VAR_067610
Natural varianti407 – 4071P → Q in VSD1 and TOF. 2 Publications
Corresponds to variant rs115099192 [ dbSNP | Ensembl ].
VAR_067619
Natural varianti425 – 4251D → N in ASD2; also found in a patient with TOF. 1 Publication
VAR_067621
Atrioventricular septal defect 4 (AVSD4) [MIM:614430]: A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti163 – 1631P → S in AVSD4; also in a patient with VSD1 and a patient with TOF. 3 Publications
VAR_067610
Natural varianti346 – 3461A → V in AVSD4. 1 Publication
Corresponds to variant rs115372595 [ dbSNP | Ensembl ].
VAR_067616
Testicular anomalies with or without congenital heart disease (TACHD) [MIM:615542]: A 46,XY disorder of sex development with variable clinical presentation and defects in testicular differentiation and function. Clinical features include ambiguous genitalia, fused labioscrotal folds, hypospadias, microphallus, and bilateral inguinal hernia containing gonads.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti221 – 2211G → R in TACHD; impairs the ability to bind and transactivate the promoter of AMH gene. Abolishes interaction with ZFPM2. 1 Publication
VAR_070670

Keywords - Diseasei

Atrial septal defect, Cardiomyopathy, Disease mutation

Organism-specific databases

MIMi187500. phenotype.
607941. phenotype.
614429. phenotype.
614430. phenotype.
615542. phenotype.
Orphaneti251510. 46,XY partial gonadal dysgenesis.
251071. 8p23.1 microdeletion syndrome.
99103. Atrial septal defect, ostium secundum type.
99068. Complete atrioventricular canal - Fallot tetralogy.
99066. Complete atrioventricular canal - left heart obstruction.
99067. Complete atrioventricular canal - ventricle hypoplasia.
334. Familial atrial fibrillation.
1330. Partial atrioventricular canal.
99097. Single ventricular septal defect.
3303. Tetralogy of Fallot.
PharmGKBiPA28587.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 442442Transcription factor GATA-4PRO_0000083413Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei300 – 3001N6-methyllysine; by EZH2 By similarity

Post-translational modificationi

Methylation at Lys-300 attenuates transcriptional activity By similarity.

Keywords - PTMi

Methylation

Proteomic databases

MaxQBiP43694.
PaxDbiP43694.
PRIDEiP43694.

PTM databases

PhosphoSiteiP43694.

Expressioni

Gene expression databases

ArrayExpressiP43694.
BgeeiP43694.
CleanExiHS_GATA4.
GenevestigatoriP43694.

Organism-specific databases

HPAiCAB013125.

Interactioni

Subunit structurei

Interacts with ZNF260 By similarity. Interacts with the homeobox domain of NKX2-5 through its C-terminal zinc finger. Also interacts with JARID2 which represses its ability to activate transcription of ANF. Interacts with NFATC4 and LMCD1 By similarity. Forms a complex made of CDK9, CCNT1/cyclin-T1, EP300 and GATA4 that stimulates hypertrophy in cardiomyocytes. Interacts with NR5A1 and ZFPM2.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
KLF13Q9Y2Y93EBI-7049352,EBI-1255893

Protein-protein interaction databases

BioGridi108896. 23 interactions.
IntActiP43694. 1 interaction.
MINTiMINT-3379484.
STRINGi9606.ENSP00000334458.

Structurei

Secondary structure

1
442
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Turni272 – 2743
Beta strandi282 – 2843
Beta strandi290 – 2923
Helixi293 – 3019

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2M9WNMR-A262-321[»]
ProteinModelPortaliP43694.
SMRiP43694. Positions 213-321.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi118 – 1269Poly-Ala
Compositional biasi174 – 1818Poly-Ala
Compositional biasi276 – 2805Poly-Thr

Sequence similaritiesi

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiCOG5641.
HOVERGENiHBG051703.
InParanoidiP43694.
KOiK09183.
PhylomeDBiP43694.
TreeFamiTF315391.

Family and domain databases

Gene3Di3.30.50.10. 2 hits.
InterProiIPR008013. GATA_N.
IPR028436. TF_GATA_4.
IPR016375. TF_GATA_4/5/6.
IPR000679. Znf_GATA.
IPR013088. Znf_NHR/GATA.
[Graphical view]
PANTHERiPTHR10071:SF154. PTHR10071:SF154. 1 hit.
PfamiPF00320. GATA. 2 hits.
PF05349. GATA-N. 1 hit.
[Graphical view]
PIRSFiPIRSF003028. TF_GATA_4/5/6. 1 hit.
PRINTSiPR00619. GATAZNFINGER.
SMARTiSM00401. ZnF_GATA. 2 hits.
[Graphical view]
PROSITEiPS00344. GATA_ZN_FINGER_1. 2 hits.
PS50114. GATA_ZN_FINGER_2. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P43694-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MYQSLAMAAN HGPPPGAYEA GGPGAFMHGA GAASSPVYVP TPRVPSSVLG    50
LSYLQGGGAG SASGGASGGS SGGAASGAGP GTQQGSPGWS QAGADGAAYT 100
PPPVSPRFSF PGTTGSLAAA AAAAAAREAA AYSSGGGAAG AGLAGREQYG 150
RAGFAGSYSS PYPAYMADVG ASWAAAAAAS AGPFDSPVLH SLPGRANPAA 200
RHPNLDMFDD FSEGRECVNC GAMSTPLWRR DGTGHYLCNA CGLYHKMNGI 250
NRPLIKPQRR LSASRRVGLS CANCQTTTTT LWRRNAEGEP VCNACGLYMK 300
LHGVPRPLAM RKEGIQTRKR KPKNLNKSKT PAAPSGSESL PPASGASSNS 350
SNATTSSSEE MRPIKTEPGL SSHYGHSSSV SQTFSVSAMS GHGPSIHPVL 400
SALKLSPQGY ASPVSQSPQT SSKQDSWNSL VLADSHGDII TA 442
Length:442
Mass (Da):44,565
Last modified:November 25, 2008 - v2
Checksum:i141B8CD841E12C7B
GO
Isoform 2 (identifier: P43694-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     205-205: L → LV

Note: No experimental confirmation available.

Show »
Length:443
Mass (Da):44,665
Checksum:iA9F8C9CA00F3B9AD
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti6 – 61A → V in VSD1. 1 Publication
Corresponds to variant rs199922907 [ dbSNP | Ensembl ].
VAR_067605
Natural varianti43 – 431R → W in VSD1; significantly reduced activation of the NPPA promoter with the mutant protein compared to wild-type. 1 Publication
VAR_067606
Natural varianti46 – 461Missing in VSD1. 1 Publication
VAR_067607
Natural varianti52 – 521S → F in ASD2. 1 Publication
VAR_038195
Natural varianti93 – 931G → A in ASD2; uncertain pathological significance. 1 Publication
VAR_067608
Natural varianti118 – 1181A → AA in TOF. 1 Publication
VAR_067609
Natural varianti163 – 1631P → S in AVSD4; also in a patient with VSD1 and a patient with TOF. 3 Publications
VAR_067610
Natural varianti221 – 2211G → R in TACHD; impairs the ability to bind and transactivate the promoter of AMH gene. Abolishes interaction with ZFPM2. 1 Publication
VAR_070670
Natural varianti280 – 2801T → M in ASD2. 1 Publication
VAR_067611
Natural varianti296 – 2961G → C in ASD2. 1 Publication
VAR_067612
Natural varianti296 – 2961G → R in VSD1. 1 Publication
VAR_067613
Natural varianti296 – 2961G → S in ASD2. 2 Publications
VAR_016204
Natural varianti310 – 3101M → V in ASD2. 1 Publication
VAR_067614
Natural varianti316 – 3161Q → E in ASD2. 1 Publication
VAR_067615
Natural varianti346 – 3461A → V in AVSD4. 1 Publication
Corresponds to variant rs115372595 [ dbSNP | Ensembl ].
VAR_067616
Natural varianti359 – 3591E → K in VSD1. 1 Publication
VAR_067617
Natural varianti377 – 3771S → G.
Corresponds to variant rs3729856 [ dbSNP | Ensembl ].
VAR_038196
Natural varianti403 – 4031L → M in ASD2. 1 Publication
VAR_067618
Natural varianti407 – 4071P → Q in VSD1 and TOF. 2 Publications
Corresponds to variant rs115099192 [ dbSNP | Ensembl ].
VAR_067619
Natural varianti411 – 4111A → V in VSD1; uncertain pathological significance. 1 Publication
Corresponds to variant rs55633527 [ dbSNP | Ensembl ].
VAR_067620
Natural varianti425 – 4251D → N in ASD2; also found in a patient with TOF. 1 Publication
VAR_067621
Natural varianti429 – 4291S → T in VSD1. 1 Publication
VAR_067622
Natural varianti442 – 4421A → V in VSD1. 1 Publication
VAR_067623

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei205 – 2051L → LV in isoform 2. VSP_055082

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti19 – 191E → Q in AAA58496. 1 Publication
Sequence conflicti25 – 251A → P in AAA58496. 1 Publication
Sequence conflicti39 – 391V → L in AAA58496. 1 Publication
Sequence conflicti66 – 661A → P in AAA58496. 1 Publication
Sequence conflicti71 – 711S → P in AAA58496. 1 Publication
Sequence conflicti95 – 951D → T in AAA58496. 1 Publication
Sequence conflicti280 – 2801T → A in AAW51922. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L34357 mRNA. Translation: AAA58496.1.
AY740706 mRNA. Translation: AAW51922.1.
AC069185 Genomic DNA. No translation available.
AC090790 Genomic DNA. No translation available.
BC101580 mRNA. Translation: AAI01581.1.
BC105108 mRNA. Translation: AAI05109.1.
BC143434 mRNA. Translation: AAI43435.1.
BC143479 mRNA. Translation: AAI43480.1.
CCDSiCCDS5983.1. [P43694-1]
RefSeqiNP_002043.2. NM_002052.3.
XP_005272441.1. XM_005272384.1.
XP_005272442.1. XM_005272385.2.
XP_005272443.1. XM_005272386.1.
XP_006716311.1. XM_006716248.1.
UniGeneiHs.243987.

Genome annotation databases

EnsembliENST00000335135; ENSP00000334458; ENSG00000136574.
ENST00000532059; ENSP00000435712; ENSG00000136574.
GeneIDi2626.
KEGGihsa:2626.
UCSCiuc003wub.1. human. [P43694-1]

Polymorphism databases

DMDMi215274105.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L34357 mRNA. Translation: AAA58496.1 .
AY740706 mRNA. Translation: AAW51922.1 .
AC069185 Genomic DNA. No translation available.
AC090790 Genomic DNA. No translation available.
BC101580 mRNA. Translation: AAI01581.1 .
BC105108 mRNA. Translation: AAI05109.1 .
BC143434 mRNA. Translation: AAI43435.1 .
BC143479 mRNA. Translation: AAI43480.1 .
CCDSi CCDS5983.1. [P43694-1 ]
RefSeqi NP_002043.2. NM_002052.3.
XP_005272441.1. XM_005272384.1.
XP_005272442.1. XM_005272385.2.
XP_005272443.1. XM_005272386.1.
XP_006716311.1. XM_006716248.1.
UniGenei Hs.243987.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2M9W NMR - A 262-321 [» ]
ProteinModelPortali P43694.
SMRi P43694. Positions 213-321.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108896. 23 interactions.
IntActi P43694. 1 interaction.
MINTi MINT-3379484.
STRINGi 9606.ENSP00000334458.

Chemistry

ChEMBLi CHEMBL1687679.

PTM databases

PhosphoSitei P43694.

Polymorphism databases

DMDMi 215274105.

Proteomic databases

MaxQBi P43694.
PaxDbi P43694.
PRIDEi P43694.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000335135 ; ENSP00000334458 ; ENSG00000136574 .
ENST00000532059 ; ENSP00000435712 ; ENSG00000136574 .
GeneIDi 2626.
KEGGi hsa:2626.
UCSCi uc003wub.1. human. [P43694-1 ]

Organism-specific databases

CTDi 2626.
GeneCardsi GC08P011599.
HGNCi HGNC:4173. GATA4.
HPAi CAB013125.
MIMi 187500. phenotype.
600576. gene.
607941. phenotype.
614429. phenotype.
614430. phenotype.
615542. phenotype.
neXtProti NX_P43694.
Orphaneti 251510. 46,XY partial gonadal dysgenesis.
251071. 8p23.1 microdeletion syndrome.
99103. Atrial septal defect, ostium secundum type.
99068. Complete atrioventricular canal - Fallot tetralogy.
99066. Complete atrioventricular canal - left heart obstruction.
99067. Complete atrioventricular canal - ventricle hypoplasia.
334. Familial atrial fibrillation.
1330. Partial atrioventricular canal.
99097. Single ventricular septal defect.
3303. Tetralogy of Fallot.
PharmGKBi PA28587.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5641.
HOVERGENi HBG051703.
InParanoidi P43694.
KOi K09183.
PhylomeDBi P43694.
TreeFami TF315391.

Enzyme and pathway databases

Reactomei REACT_23824. Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP).
REACT_24970. Factors involved in megakaryocyte development and platelet production.
SignaLinki P43694.

Miscellaneous databases

GeneWikii GATA4.
GenomeRNAii 2626.
NextBioi 10345.
PROi P43694.
SOURCEi Search...

Gene expression databases

ArrayExpressi P43694.
Bgeei P43694.
CleanExi HS_GATA4.
Genevestigatori P43694.

Family and domain databases

Gene3Di 3.30.50.10. 2 hits.
InterProi IPR008013. GATA_N.
IPR028436. TF_GATA_4.
IPR016375. TF_GATA_4/5/6.
IPR000679. Znf_GATA.
IPR013088. Znf_NHR/GATA.
[Graphical view ]
PANTHERi PTHR10071:SF154. PTHR10071:SF154. 1 hit.
Pfami PF00320. GATA. 2 hits.
PF05349. GATA-N. 1 hit.
[Graphical view ]
PIRSFi PIRSF003028. TF_GATA_4/5/6. 1 hit.
PRINTSi PR00619. GATAZNFINGER.
SMARTi SM00401. ZnF_GATA. 2 hits.
[Graphical view ]
PROSITEi PS00344. GATA_ZN_FINGER_1. 2 hits.
PS50114. GATA_ZN_FINGER_2. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of a GATA motif in the cardiac alpha-myosin heavy-chain-encoding gene and isolation of a human GATA-4 cDNA."
    Huang W.Y., Cukerman E., Liew C.C.
    Gene 155:219-223(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Heart.
  2. Palaszewski I., Dame C.
    Submitted (SEP-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  3. "DNA sequence and analysis of human chromosome 8."
    Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
    , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
    Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Heart and Lung.
  5. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. "Cyclin-dependent kinase-9 is a component of the p300/GATA4 complex required for phenylephrine-induced hypertrophy in cardiomyocytes."
    Sunagawa Y., Morimoto T., Takaya T., Kaichi S., Wada H., Kawamura T., Fujita M., Shimatsu A., Kita T., Hasegawa K.
    J. Biol. Chem. 285:9556-9568(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN CARDIAC HYPERTROPHY, IDENTIFICATION IN COMPLEX WITH CCNT1; EP300 AND GATA4.
  7. "Loss-of-function mutation in GATA4 causes anomalies of human testicular development."
    Lourenco D., Brauner R., Rybczynska M., Nihoul-Fekete C., McElreavey K., Bashamboo A.
    Proc. Natl. Acad. Sci. U.S.A. 108:1597-1602(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, DNA-BINDING, INTERACTION WITH NR5A1 AND ZFPM2, VARIANT TACHD ARG-221, CHARACTERIZATION OF VARIANT TACHD ARG-221.
  8. "Solution NMR structure of a transcription factor gata-4 from Homo sapiens, Northeast structural genomics consortium (NESG) target HR4783B."
    Northeast structural genomics consortium (NESG)
    Submitted (JUL-2013) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 262-321.
  9. Cited for: VARIANT ASD2 SER-296.
  10. Cited for: VARIANTS ASD2 PHE-52 AND SER-296.
  11. "GATA4 sequence variants in patients with congenital heart disease."
    Tomita-Mitchell A., Maslen C.L., Morris C.D., Garg V., Goldmuntz E.
    J. Med. Genet. 44:779-783(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ASD2 ALA-93; GLU-316 AND ASN-425, VARIANT VSD1 VAL-411.
  12. Cited for: VARIANTS ASD2 CYS-296 AND MET-403, VARIANTS AVSD4 SER-163 AND VAL-346.
  13. "GATA4 mutations in 486 Chinese patients with congenital heart disease."
    Zhang W., Li X., Shen A., Jiao W., Guan X., Li Z.
    Eur. J. Med. Genet. 51:527-535(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS VSD1 VAL-6; SER-46 DEL; SER-163; LYS-359; THR-429 AND VAL-442, VARIANTS TOF ALA-118 INS AND GLN-407.
  14. "A novel mutation of GATA4 in a familial atrial septal defect."
    Chen Y., Mao J., Sun Y., Zhang Q., Cheng H.B., Yan W.H., Choy K.W., Li H.
    Clin. Chim. Acta 411:1741-1745(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ASD2 MET-280.
  15. "Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease."
    Peng T., Wang L., Zhou S.F., Li X.
    Genetica 138:1231-1240(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT VSD1 GLN-407, VARIANT TOF SER-163.
  16. "A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect."
    Chen Y., Han Z.Q., Yan W.D., Tang C.Z., Xie J.Y., Chen H., Hu D.Y.
    J. Thorac. Cardiovasc. Surg. 140:684-687(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ASD2 VAL-310.
  17. "A novel GATA4 mutation responsible for congenital ventricular septal defects."
    Wang J., Fang M., Liu X.Y., Xin Y.F., Liu Z.M., Chen X.Z., Wang X.Z., Fang W.Y., Liu X., Yang Y.Q.
    Int. J. Mol. Med. 28:557-564(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT VSD1 ARG-296.
  18. "A novel GATA4 loss-of-function mutation associated with congenital ventricular septal defect."
    Yang Y.Q., Li L., Wang J., Liu X.Y., Chen X.Z., Zhang W., Wang X.Z., Jiang J.Q., Liu X., Fang W.Y.
    Pediatr. Cardiol. 33:539-546(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT VSD1 TRP-43, CHARACTERIZATION OF VARIANT VSD1 TRP-43.

Entry informationi

Entry nameiGATA4_HUMAN
AccessioniPrimary (citable) accession number: P43694
Secondary accession number(s): B7ZKX0
, B7ZKZ4, Q3MJ45, Q5IFM8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: November 25, 2008
Last modified: September 3, 2014
This is version 143 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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