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UniProtKB - P43694 (GATA4_HUMAN)

Protein

Transcription factor GATA-4

Gene

GATA4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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 and function (PubMed:24000169, PubMed:27984724). In cooperation with TBX5, it binds to cardiac super-enhancers and promotes cardiomyocyte gene expression, while it downregulates endocardial and endothelial gene expression (PubMed:27984724). Involved in bone morphogenetic protein (BMP)-mediated induction of cardiac-specific gene expression. Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions (By similarity). Acts as a transcriptional activator of ANF in cooperation with NKX2-5 (By similarity). Promotes cardiac myocyte enlargement (PubMed:20081228). Required during testicular development (PubMed:21220346). May play a role in sphingolipid signaling by regulating the expression of sphingosine-1-phosphate degrading enzyme, spingosine-1-phosphate lyase (PubMed:15734735).By similarity5 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri217 – 241GATA-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri271 – 295GATA-type 2PROSITE-ProRule annotationAdd BLAST25

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-2032785 YAP1- and WWTR1 (TAZ)-stimulated gene expression
R-HSA-400511 Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
R-HSA-5578768 Physiological factors
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
SignaLinkiP43694
SIGNORiP43694

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000136574.17
HGNCiHGNC:4173 GATA4
MIMi600576 gene
neXtProtiNX_P43694

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Atrial septal defect 2 (ASD2)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:607941
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03819552S → F in ASD2. 1 PublicationCorresponds to variant dbSNP:rs104894074EnsemblClinVar.1
Natural variantiVAR_06760893G → A in ASD2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs56191129Ensembl.1
Natural variantiVAR_067611280T → M in ASD2. 1 PublicationCorresponds to variant dbSNP:rs387906771EnsemblClinVar.1
Natural variantiVAR_067612296G → C in ASD2. 1 PublicationCorresponds to variant dbSNP:rs104894073EnsemblClinVar.1
Natural variantiVAR_016204296G → S in ASD2; decreased function resulting in reduced myocardial genes expression; fails to downregulate endothelial and endocardial genes. 3 PublicationsCorresponds to variant dbSNP:rs104894073EnsemblClinVar.1
Natural variantiVAR_067614310M → V in ASD2. 1 PublicationCorresponds to variant dbSNP:rs387906772EnsemblClinVar.1
Natural variantiVAR_067615316Q → E in ASD2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs56298569EnsemblClinVar.1
Natural variantiVAR_067618403L → M in ASD2. 1 PublicationCorresponds to variant dbSNP:rs777778466Ensembl.1
Ventricular septal defect 1 (VSD1)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614429
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0676056A → V in VSD1. 1 PublicationCorresponds to variant dbSNP:rs199922907Ensembl.1
Natural variantiVAR_06760643R → W in VSD1; significantly reduced activation of the NPPA promoter with the mutant protein compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs387906770EnsemblClinVar.1
Natural variantiVAR_06760746Missing in VSD1. 1 Publication1
Natural variantiVAR_067613296G → R in VSD1. 1 PublicationCorresponds to variant dbSNP:rs104894073EnsemblClinVar.1
Natural variantiVAR_067617359E → K in VSD1. 1 PublicationCorresponds to variant dbSNP:rs368489876EnsemblClinVar.1
Natural variantiVAR_067622429S → T in VSD1. 1 Publication1
Natural variantiVAR_067623442A → V in VSD1. 1 PublicationCorresponds to variant dbSNP:rs146017816EnsemblClinVar.1
Tetralogy of Fallot (TOF)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:187500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0715149A → P in TOF; slightly diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; no effect on interaction with TBX5. 1 Publication1
Natural variantiVAR_07151551L → V in TOF; slightly diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; no effect on interaction with TBX5. 1 Publication1
Natural variantiVAR_067609118A → AA in TOF. 1 Publication1
Natural variantiVAR_071516285N → S in TOF; drastically diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; completely disrupted interaction with TBX5. 1 Publication1
Atrioventricular septal defect 4 (AVSD4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614430
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067610163P → S in AVSD4; also in a patient with VSD1 and a patient with TOF. 3 PublicationsCorresponds to variant dbSNP:rs387906769EnsemblClinVar.1
Natural variantiVAR_067616346A → V in AVSD4. 1 PublicationCorresponds to variant dbSNP:rs115372595EnsemblClinVar.1
Testicular anomalies with or without congenital heart disease (TACHD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615542
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070670221G → R in TACHD; impairs the ability to bind and transactivate the promoter of AMH gene; abolishes interaction with ZFPM2. 1 PublicationCorresponds to variant dbSNP:rs398122402EnsemblClinVar.1
GATA4 mutations can predispose to dilated cardiomyopathy (CMD), a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.2 Publications

Keywords - Diseasei

Atrial septal defect, Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNETi2626
MalaCardsiGATA4
MIMi187500 phenotype
607941 phenotype
614429 phenotype
614430 phenotype
615542 phenotype
OpenTargetsiENSG00000136574
Orphaneti251510 46,XY partial gonadal dysgenesis
251071 8p23.1 microdeletion syndrome
99103 Atrial septal defect, ostium secundum type
99066 Complete atrioventricular canal-left heart obstruction syndrome
99068 Complete atrioventricular canal-tetralogy of Fallot syndrome
99067 Complete atrioventricular canal-ventricle hypoplasia syndrome
334 Familial atrial fibrillation
1480 NON RARE IN EUROPE: Ventricular septal defect
1330 Partial atrioventricular canal
3303 Tetralogy of Fallot
PharmGKBiPA28587

Chemistry databases

ChEMBLiCHEMBL1687679

Polymorphism and mutation databases

BioMutaiGATA4
DMDMi215274105

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000834131 – 442Transcription factor GATA-4Add BLAST442

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei300N6-methyllysine; by EZH2By similarity1

Post-translational modificationi

Methylation at Lys-300 attenuates transcriptional activity.By similarity

Keywords - PTMi

Methylation

Proteomic databases

MaxQBiP43694
PaxDbiP43694
PeptideAtlasiP43694
PRIDEiP43694
ProteomicsDBi55652

PTM databases

iPTMnetiP43694
PhosphoSitePlusiP43694

Expressioni

Gene expression databases

BgeeiENSG00000136574 Expressed in 86 organ(s), highest expression level in right ovary
CleanExiHS_GATA4
ExpressionAtlasiP43694 baseline and differential
GenevisibleiP43694 HS

Organism-specific databases

HPAiCAB013125
HPA073899

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, ZFPM2 and TBX5. Interacts with TBX18.By similarity3 Publications

Binary interactionsi

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

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi108896, 24 interactors
CORUMiP43694
IntActiP43694, 3 interactors
MINTiP43694
STRINGi9606.ENSP00000334458

Structurei

Secondary structure

1442
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP43694
SMRiP43694
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi118 – 126Poly-Ala9
Compositional biasi174 – 181Poly-Ala8
Compositional biasi276 – 280Poly-Thr5

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri217 – 241GATA-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri271 – 295GATA-type 2PROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1601 Eukaryota
COG5641 LUCA
GeneTreeiENSGT00760000119221
HOGENOMiHOG000047700
HOVERGENiHBG051703
InParanoidiP43694
KOiK09183
OMAiTRVVTPM
OrthoDBiEOG091G0AUR
PhylomeDBiP43694
TreeFamiTF315391

Family and domain databases

CDDicd00202 ZnF_GATA, 2 hits
Gene3Di3.30.50.10, 2 hits
InterProiView protein in InterPro
IPR008013 GATA_N
IPR016375 TF_GATA_4/5/6
IPR039355 Transcription_factor_GATA
IPR000679 Znf_GATA
IPR013088 Znf_NHR/GATA
PANTHERiPTHR10071 PTHR10071, 1 hit
PfamiView protein in Pfam
PF00320 GATA, 2 hits
PF05349 GATA-N, 1 hit
PIRSFiPIRSF003028 TF_GATA_4/5/6, 1 hit
PRINTSiPR00619 GATAZNFINGER
SMARTiView protein in SMART
SM00401 ZnF_GATA, 2 hits
PROSITEiView protein in PROSITE
PS00344 GATA_ZN_FINGER_1, 2 hits
PS50114 GATA_ZN_FINGER_2, 2 hits

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

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
        10         20         30         40         50
MYQSLAMAAN HGPPPGAYEA GGPGAFMHGA GAASSPVYVP TPRVPSSVLG 
        60         70         80         90        100
LSYLQGGGAG SASGGASGGS SGGAASGAGP GTQQGSPGWS QAGADGAAYT 
       110        120        130        140        150
PPPVSPRFSF PGTTGSLAAA AAAAAAREAA AYSSGGGAAG AGLAGREQYG 
       160        170        180        190        200
RAGFAGSYSS PYPAYMADVG ASWAAAAAAS AGPFDSPVLH SLPGRANPAA 
       210        220        230        240        250
RHPNLDMFDD FSEGRECVNC GAMSTPLWRR DGTGHYLCNA CGLYHKMNGI 
       260        270        280        290        300
NRPLIKPQRR LSASRRVGLS CANCQTTTTT LWRRNAEGEP VCNACGLYMK 
       310        320        330        340        350
LHGVPRPLAM RKEGIQTRKR KPKNLNKSKT PAAPSGSESL PPASGASSNS 
       360        370        380        390        400
SNATTSSSEE MRPIKTEPGL SSHYGHSSSV SQTFSVSAMS GHGPSIHPVL 
       410        420        430        440 
SALKLSPQGY ASPVSQSPQT SSKQDSWNSL VLADSHGDII TA
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

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WZ09A0A087WZ09_HUMAN
Transcription factor GATA-4
GATA4
441Annotation score:
E9PRI5E9PRI5_HUMAN
Transcription factor GATA-4
GATA4
116Annotation score:
R4GND5R4GND5_HUMAN
Transcription factor GATA-4
GATA4
23Annotation score:
B3KUF4B3KUF4_HUMAN
Transcription factor GATA-4
GATA4
236Annotation score:
E9PKS4E9PKS4_HUMAN
Transcription factor GATA-4
GATA4
175Annotation score:
B6DU75B6DU75_HUMAN
GATA binding protein 4
GATA4
16Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti19E → Q in AAA58496 (PubMed:7721094).Curated1
Sequence conflicti25A → P in AAA58496 (PubMed:7721094).Curated1
Sequence conflicti66A → P in AAA58496 (PubMed:7721094).Curated1
Sequence conflicti71S → P in AAA58496 (PubMed:7721094).Curated1
Sequence conflicti95D → T in AAA58496 (PubMed:7721094).Curated1
Sequence conflicti280T → A in AAW51922 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0676056A → V in VSD1. 1 PublicationCorresponds to variant dbSNP:rs199922907Ensembl.1
Natural variantiVAR_0715149A → P in TOF; slightly diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; no effect on interaction with TBX5. 1 Publication1
Natural variantiVAR_07211139V → L Probable-disease associated mutation found in CMD patients; results in significantly reduced transactivation activity. 2 PublicationsCorresponds to variant dbSNP:rs1139241Ensembl.1
Natural variantiVAR_06760643R → W in VSD1; significantly reduced activation of the NPPA promoter with the mutant protein compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs387906770EnsemblClinVar.1
Natural variantiVAR_06760746Missing in VSD1. 1 Publication1
Natural variantiVAR_07151551L → V in TOF; slightly diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; no effect on interaction with TBX5. 1 Publication1
Natural variantiVAR_03819552S → F in ASD2. 1 PublicationCorresponds to variant dbSNP:rs104894074EnsemblClinVar.1
Natural variantiVAR_06760893G → A in ASD2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs56191129Ensembl.1
Natural variantiVAR_067609118A → AA in TOF. 1 Publication1
Natural variantiVAR_067610163P → S in AVSD4; also in a patient with VSD1 and a patient with TOF. 3 PublicationsCorresponds to variant dbSNP:rs387906769EnsemblClinVar.1
Natural variantiVAR_070670221G → R in TACHD; impairs the ability to bind and transactivate the promoter of AMH gene; abolishes interaction with ZFPM2. 1 PublicationCorresponds to variant dbSNP:rs398122402EnsemblClinVar.1
Natural variantiVAR_072112226P → Q Probable-disease associated mutation found in CMD patients; results in significantly reduced transactivation activity. 1 Publication1
Natural variantiVAR_072113271C → S Probable-disease associated mutation found in CMD patients; results in significantly reduced transactivation activity. 1 Publication1
Natural variantiVAR_072114279T → S Probable-disease associated mutation found in CMD patients; results in significantly reduced transactivation activity. 1 Publication1
Natural variantiVAR_067611280T → M in ASD2. 1 PublicationCorresponds to variant dbSNP:rs387906771EnsemblClinVar.1
Natural variantiVAR_071516285N → S in TOF; drastically diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; completely disrupted interaction with TBX5. 1 Publication1
Natural variantiVAR_067612296G → C in ASD2. 1 PublicationCorresponds to variant dbSNP:rs104894073EnsemblClinVar.1
Natural variantiVAR_067613296G → R in VSD1. 1 PublicationCorresponds to variant dbSNP:rs104894073EnsemblClinVar.1
Natural variantiVAR_016204296G → S in ASD2; decreased function resulting in reduced myocardial genes expression; fails to downregulate endothelial and endocardial genes. 3 PublicationsCorresponds to variant dbSNP:rs104894073EnsemblClinVar.1
Natural variantiVAR_067614310M → V in ASD2. 1 PublicationCorresponds to variant dbSNP:rs387906772EnsemblClinVar.1
Natural variantiVAR_067615316Q → E in ASD2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs56298569EnsemblClinVar.1
Natural variantiVAR_067616346A → V in AVSD4. 1 PublicationCorresponds to variant dbSNP:rs115372595EnsemblClinVar.1
Natural variantiVAR_067617359E → K in VSD1. 1 PublicationCorresponds to variant dbSNP:rs368489876EnsemblClinVar.1
Natural variantiVAR_038196377S → G. Corresponds to variant dbSNP:rs3729856EnsemblClinVar.1
Natural variantiVAR_067618403L → M in ASD2. 1 PublicationCorresponds to variant dbSNP:rs777778466Ensembl.1
Natural variantiVAR_067619407P → Q in VSD1 and TOF; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs115099192EnsemblClinVar.1
Natural variantiVAR_067620411A → V1 PublicationCorresponds to variant dbSNP:rs55633527EnsemblClinVar.1
Natural variantiVAR_067621425D → N2 PublicationsCorresponds to variant dbSNP:rs56208331EnsemblClinVar.1
Natural variantiVAR_067622429S → T in VSD1. 1 Publication1
Natural variantiVAR_067623442A → V in VSD1. 1 PublicationCorresponds to variant dbSNP:rs146017816EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_055082205L → LV in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
CCDS78303.1 [P43694-2]
RefSeqiNP_001295022.1, NM_001308093.1 [P43694-2]
NP_002043.2, NM_002052.4 [P43694-1]
XP_005272442.1, XM_005272385.4 [P43694-2]
XP_005272443.1, XM_005272386.1
XP_006716311.1, XM_006716248.1
XP_011542119.1, XM_011543817.2 [P43694-2]
XP_011542120.1, XM_011543818.2 [P43694-2]
XP_016868801.1, XM_017013312.1 [P43694-2]
UniGeneiHs.243987

Genome annotation databases

EnsembliENST00000335135; ENSP00000334458; ENSG00000136574 [P43694-1]
ENST00000532059; ENSP00000435712; ENSG00000136574 [P43694-2]
ENST00000643249; ENSP00000493647; ENSG00000285109 [P43694-2]
ENST00000647274; ENSP00000495511; ENSG00000285109 [P43694-1]
GeneIDi2626
KEGGihsa:2626
UCSCiuc003wuc.3 human [P43694-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
CCDS78303.1 [P43694-2]
RefSeqiNP_001295022.1, NM_001308093.1 [P43694-2]
NP_002043.2, NM_002052.4 [P43694-1]
XP_005272442.1, XM_005272385.4 [P43694-2]
XP_005272443.1, XM_005272386.1
XP_006716311.1, XM_006716248.1
XP_011542119.1, XM_011543817.2 [P43694-2]
XP_011542120.1, XM_011543818.2 [P43694-2]
XP_016868801.1, XM_017013312.1 [P43694-2]
UniGeneiHs.243987

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2M9WNMR-A262-321[»]
ProteinModelPortaliP43694
SMRiP43694
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108896, 24 interactors
CORUMiP43694
IntActiP43694, 3 interactors
MINTiP43694
STRINGi9606.ENSP00000334458

Chemistry databases

ChEMBLiCHEMBL1687679

PTM databases

iPTMnetiP43694
PhosphoSitePlusiP43694

Polymorphism and mutation databases

BioMutaiGATA4
DMDMi215274105

Proteomic databases

MaxQBiP43694
PaxDbiP43694
PeptideAtlasiP43694
PRIDEiP43694
ProteomicsDBi55652

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000335135; ENSP00000334458; ENSG00000136574 [P43694-1]
ENST00000532059; ENSP00000435712; ENSG00000136574 [P43694-2]
ENST00000643249; ENSP00000493647; ENSG00000285109 [P43694-2]
ENST00000647274; ENSP00000495511; ENSG00000285109 [P43694-1]
GeneIDi2626
KEGGihsa:2626
UCSCiuc003wuc.3 human [P43694-1]

Organism-specific databases

CTDi2626
DisGeNETi2626
EuPathDBiHostDB:ENSG00000136574.17
GeneCardsiGATA4
HGNCiHGNC:4173 GATA4
HPAiCAB013125
HPA073899
MalaCardsiGATA4
MIMi187500 phenotype
600576 gene
607941 phenotype
614429 phenotype
614430 phenotype
615542 phenotype
neXtProtiNX_P43694
OpenTargetsiENSG00000136574
Orphaneti251510 46,XY partial gonadal dysgenesis
251071 8p23.1 microdeletion syndrome
99103 Atrial septal defect, ostium secundum type
99066 Complete atrioventricular canal-left heart obstruction syndrome
99068 Complete atrioventricular canal-tetralogy of Fallot syndrome
99067 Complete atrioventricular canal-ventricle hypoplasia syndrome
334 Familial atrial fibrillation
1480 NON RARE IN EUROPE: Ventricular septal defect
1330 Partial atrioventricular canal
3303 Tetralogy of Fallot
PharmGKBiPA28587
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1601 Eukaryota
COG5641 LUCA
GeneTreeiENSGT00760000119221
HOGENOMiHOG000047700
HOVERGENiHBG051703
InParanoidiP43694
KOiK09183
OMAiTRVVTPM
OrthoDBiEOG091G0AUR
PhylomeDBiP43694
TreeFamiTF315391

Enzyme and pathway databases

ReactomeiR-HSA-2032785 YAP1- and WWTR1 (TAZ)-stimulated gene expression
R-HSA-400511 Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
R-HSA-5578768 Physiological factors
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
SignaLinkiP43694
SIGNORiP43694

Miscellaneous databases

ChiTaRSiGATA4 human
GeneWikiiGATA4
GenomeRNAii2626
PROiPR:P43694
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000136574 Expressed in 86 organ(s), highest expression level in right ovary
CleanExiHS_GATA4
ExpressionAtlasiP43694 baseline and differential
GenevisibleiP43694 HS

Family and domain databases

CDDicd00202 ZnF_GATA, 2 hits
Gene3Di3.30.50.10, 2 hits
InterProiView protein in InterPro
IPR008013 GATA_N
IPR016375 TF_GATA_4/5/6
IPR039355 Transcription_factor_GATA
IPR000679 Znf_GATA
IPR013088 Znf_NHR/GATA
PANTHERiPTHR10071 PTHR10071, 1 hit
PfamiView protein in Pfam
PF00320 GATA, 2 hits
PF05349 GATA-N, 1 hit
PIRSFiPIRSF003028 TF_GATA_4/5/6, 1 hit
PRINTSiPR00619 GATAZNFINGER
SMARTiView protein in SMART
SM00401 ZnF_GATA, 2 hits
PROSITEiView protein in PROSITE
PS00344 GATA_ZN_FINGER_1, 2 hits
PS50114 GATA_ZN_FINGER_2, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiGATA4_HUMAN
AccessioniPrimary (citable) accession number: P43694
Secondary accession number(s): B7ZKX0
, B7ZKZ4, Q3MJ45, Q5IFM8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: November 25, 2008
Last modified: November 7, 2018
This is version 183 of the entry and version 2 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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