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P43694

- GATA4_HUMAN

UniProt

P43694 - GATA4_HUMAN

Protein

Transcription factor GATA-4

Gene

GATA4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 144 (01 Oct 2014)
      Sequence version 2 (25 Nov 2008)
      Previous versions | rss
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    Functioni

    Transcriptional activator that binds to the consensus sequence 5'-AGATAG-3' and plays a key role in cardiac development. 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. 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 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri271 – 29525GATA-type 2PROSITE-ProRule annotationAdd
    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. transcription coactivator activity Source: UniProtKB
    12. transcription factor binding Source: BHF-UCL
    13. transcription regulatory region DNA binding Source: UniProtKB
    14. 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

    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

    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.6 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 EZH2By 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.By similarity2 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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

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

    Sequence similaritiesi

    Contains 2 GATA-type zinc fingers.PROSITE-ProRule annotation

    Zinc finger

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

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti19 – 191E → Q in AAA58496. (PubMed:7721094)Curated
    Sequence conflicti25 – 251A → P in AAA58496. (PubMed:7721094)Curated
    Sequence conflicti39 – 391V → L in AAA58496. (PubMed:7721094)Curated
    Sequence conflicti66 – 661A → P in AAA58496. (PubMed:7721094)Curated
    Sequence conflicti71 – 711S → P in AAA58496. (PubMed:7721094)Curated
    Sequence conflicti95 – 951D → T in AAA58496. (PubMed:7721094)Curated
    Sequence conflicti280 – 2801T → A in AAW51922. 1 PublicationCurated

    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. 1 PublicationVSP_055082

    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. [P43694-1]
    ENST00000532059; ENSP00000435712; ENSG00000136574. [P43694-2]
    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 . [P43694-1 ]
    ENST00000532059 ; ENSP00000435712 ; ENSG00000136574 . [P43694-2 ]
    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

    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: October 1, 2014
    This is version 144 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