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Protein

Transcription factor GATA-6

Gene

GATA6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Transcriptional activator (PubMed:19666519, PubMed:27756709, PubMed:22750565, PubMed:22824924). Regulates SEMA3C and PLXNA2 (PubMed:19666519). Involved in gene regulation specifically in the gastric epithelium (PubMed:9315713). May regulate genes that protect epithelial cells from bacterial infection (PubMed:16968778). Involved in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression (By similarity). Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions (By similarity).By similarity6 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri390 – 414GATA-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri444 – 468GATA-type 2PROSITE-ProRule annotationAdd BLAST25

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Enzyme and pathway databases

ReactomeiR-HSA-5683826 Surfactant metabolism
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
SignaLinkiQ92908
SIGNORiQ92908

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor GATA-6
Alternative name(s):
GATA-binding factor 6
Gene namesi
Name:GATA6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000141448.8
HGNCiHGNC:4174 GATA6
MIMi601656 gene
neXtProtiNX_Q92908

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

Rare variants in GATA6 may be a cause of susceptibility to atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.3 Publications
Conotruncal heart malformations (CTHM)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. GATA6 mutations have been found in patients with non-syndromic persistent truncus arteriosus (PubMed:19666519).1 Publication
Disease descriptionA group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle.
See also OMIM:217095
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067388466N → H in CTHM; persistent truncus arteriosus; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906813EnsemblClinVar.1
Atrial septal defect 9 (ASD9)1 Publication
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. Some patients manifest tricuspid valve disease, pulmonary valve disease, and pulmonary artery hypertension.
See also OMIM:614475
Tetralogy of Fallot (TOF)2 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_067383198L → V in TOF; uncertain pathological significance; does not affect transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906814EnsemblClinVar.1
Atrioventricular septal defect 5 (AVSD5)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:614474
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067381178A → V in AVSD5; increased transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906815EnsemblClinVar.1
Pancreatic agenesis and congenital heart defects (PACHD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disease characterized by pancreatic severe hypoplasia or agenesis, diabetes mellitus, and congenital heart abnormalities including ventricular septal defect, patent ductus arteriosus, pulmonary artery stenosis, truncus arteriosus and tetralogy of Fallot.
See also OMIM:600001
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067384452T → A in PACHD. 1 PublicationCorresponds to variant dbSNP:rs387906817EnsemblClinVar.1
Natural variantiVAR_067385456R → C in PACHD; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906818EnsemblClinVar.1
Natural variantiVAR_067386456R → H in PACHD. 1 PublicationCorresponds to variant dbSNP:rs387906819EnsemblClinVar.1
Natural variantiVAR_067387466N → D in PACHD; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906813EnsemblClinVar.1
Natural variantiVAR_067389467A → T in PACHD; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906820EnsemblClinVar.1
Natural variantiVAR_067390473K → Q in PACHD; loss of transcriptional activity. 1 Publication1

Keywords - Diseasei

Atrial septal defect, Disease mutation

Organism-specific databases

DisGeNETi2627
MalaCardsiGATA6
MIMi187500 phenotype
217095 phenotype
600001 phenotype
614474 phenotype
614475 phenotype
OpenTargetsiENSG00000141448
Orphaneti99103 Atrial septal defect, ostium secundum type
99067 Complete atrioventricular canal - ventricle hypoplasia
2140 Congenital diaphragmatic hernia
334 Familial atrial fibrillation
2255 Pancreatic hypoplasia - diabetes - congenital heart disease
1330 Partial atrioventricular canal
3303 Tetralogy of Fallot
PharmGKBiPA28589

Polymorphism and mutation databases

BioMutaiGATA6
DMDMi215273987

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000834231 – 595Transcription factor GATA-6Add BLAST595

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei268PhosphoserineCombined sources1
Cross-linki429Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki473Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki484Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ92908
MaxQBiQ92908
PaxDbiQ92908
PeptideAtlasiQ92908
PRIDEiQ92908
ProteomicsDBi75592
75593 [Q92908-2]

PTM databases

iPTMnetiQ92908
PhosphoSitePlusiQ92908

Expressioni

Tissue specificityi

Expressed in heart, gut and gut-derived tissues.

Gene expression databases

BgeeiENSG00000141448 Expressed in 158 organ(s), highest expression level in germinal epithelium of ovary
CleanExiHS_GATA6
GenevisibleiQ92908 HS

Organism-specific databases

HPAiCAB011581
HPA066629

Interactioni

Subunit structurei

Interacts with LMCD1.By similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108897, 8 interactors
IntActiQ92908, 4 interactors
MINTiQ92908
STRINGi9606.ENSP00000269216

Structurei

3D structure databases

ProteinModelPortaliQ92908
SMRiQ92908
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi173 – 183Poly-AlaAdd BLAST11
Compositional biasi324 – 333Poly-His10
Compositional biasi449 – 453Poly-Thr5

Domaini

The GATA-type zinc fingers mediate interaction with LMCD1.By similarity

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri390 – 414GATA-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri444 – 468GATA-type 2PROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1601 Eukaryota
COG5641 LUCA
GeneTreeiENSGT00760000119221
HOGENOMiHOG000047700
HOVERGENiHBG051703
InParanoidiQ92908
KOiK17897
OMAiGAHPGWP
OrthoDBiEOG091G0AUR
PhylomeDBiQ92908
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 initiation. AlignAdd to basket
Isoform 1 (identifier: Q92908-1) [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
MALTDGGWCL PKRFGAAGAD ASDSRAFPAR EPSTPPSPIS SSSSSCSRGG
60 70 80 90 100
ERGPGGASNC GTPQLDTEAA AGPPARSLLL SSYASHPFGA PHGPSAPGVA
110 120 130 140 150
GPGGNLSSWE DLLLFTDLDQ AATASKLLWS SRGAKLSPFA PEQPEEMYQT
160 170 180 190 200
LAALSSQGPA AYDGAPGGFV HSAAAAAAAA AAASSPVYVP TTRVGSMLPG
210 220 230 240 250
LPYHLQGSGS GPANHAGGAG AHPGWPQASA DSPPYGSGGG AAGGGAAGPG
260 270 280 290 300
GAGSAAAHVS ARFPYSPSPP MANGAAREPG GYAAAGSGGA GGVSGGGSSL
310 320 330 340 350
AAMGGREPQY SSLSAARPLN GTYHHHHHHH HHHPSPYSPY VGAPLTPAWP
360 370 380 390 400
AGPFETPVLH SLQSRAGAPL PVPRGPSADL LEDLSESREC VNCGSIQTPL
410 420 430 440 450
WRRDGTGHYL CNACGLYSKM NGLSRPLIKP QKRVPSSRRL GLSCANCHTT
460 470 480 490 500
TTTLWRRNAE GEPVCNACGL YMKLHGVPRP LAMKKEGIQT RKRKPKNINK
510 520 530 540 550
SKTCSGNSNN SIPMTPTSTS SNSDDCSKNT SPTTQPTASG AGAPVMTGAG
560 570 580 590
ESTNPENSEL KYSGQDGLYI GVSLASPAEV TSSVRPDSWC ALALA
Length:595
Mass (Da):60,033
Last modified:November 25, 2008 - v2
Checksum:iC4D5410916543E0B
GO
Isoform 2 (identifier: Q92908-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-146: Missing.

Note: Produced by alternative initiation at Met-147 of isoform 1.
Show »
Length:449
Mass (Da):45,386
Checksum:i2A0C294757CC2E92
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti281G → V in CAA64997 (PubMed:9294001).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06738015G → R4 PublicationsCorresponds to variant dbSNP:rs116262672EnsemblClinVar.1
Natural variantiVAR_07842791P → S Probable disease-associated mutation found in patients with atrial fibrillation; gain of function; no effect on subcellular localization. 1 PublicationCorresponds to variant dbSNP:rs766886560EnsemblClinVar.1
Natural variantiVAR_078428177A → T Probable disease-associated mutation found in patients with atrial fibrillation; gain of function; no effect on subcellular localization. 1 PublicationCorresponds to variant dbSNP:rs1263887431Ensembl.1
Natural variantiVAR_067381178A → V in AVSD5; increased transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906815EnsemblClinVar.1
Natural variantiVAR_067382184S → N in ASD9 and TOF; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906816EnsemblClinVar.1
Natural variantiVAR_067383198L → V in TOF; uncertain pathological significance; does not affect transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906814EnsemblClinVar.1
Natural variantiVAR_078429235Y → S Probable disease-associated mutation found in patients with atrial fibrillation; significant loss of transcriptional activator activity. 1 Publication1
Natural variantiVAR_067384452T → A in PACHD. 1 PublicationCorresponds to variant dbSNP:rs387906817EnsemblClinVar.1
Natural variantiVAR_067385456R → C in PACHD; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906818EnsemblClinVar.1
Natural variantiVAR_067386456R → H in PACHD. 1 PublicationCorresponds to variant dbSNP:rs387906819EnsemblClinVar.1
Natural variantiVAR_067387466N → D in PACHD; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906813EnsemblClinVar.1
Natural variantiVAR_067388466N → H in CTHM; persistent truncus arteriosus; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906813EnsemblClinVar.1
Natural variantiVAR_067389467A → T in PACHD; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906820EnsemblClinVar.1
Natural variantiVAR_078430469G → V Probable disease-associated mutation found in patients with atrial fibrillation; significant loss of transcriptional activator activity. 1 Publication1
Natural variantiVAR_067390473K → Q in PACHD; loss of transcriptional activity. 1 Publication1
Natural variantiVAR_078431543A → G Probable disease-associated mutation found in patients with atrial fibrillation; gain of function; no effect on subcellular localization. 1 PublicationCorresponds to variant dbSNP:rs761668180Ensembl.1
Natural variantiVAR_078432585R → L Probable disease-associated mutation found in patients with atrial fibrillation; gain of function; no effect on subcellular localization. 1 PublicationCorresponds to variant dbSNP:rs201707559Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0357781 – 146Missing in isoform 2. 3 PublicationsAdd BLAST146

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U66075 mRNA Translation: AAC50941.1
X95701 mRNA Translation: CAA64997.1
D87811 mRNA Translation: BAA22621.1
EF444980 Genomic DNA Translation: ACA05995.1
AC091588 Genomic DNA No translation available.
CH471088 Genomic DNA Translation: EAX01137.1
CCDSiCCDS11872.1 [Q92908-1]
RefSeqiNP_005248.2, NM_005257.5 [Q92908-1]
UniGeneiHs.514746
Hs.741506

Genome annotation databases

EnsembliENST00000269216; ENSP00000269216; ENSG00000141448 [Q92908-1]
ENST00000581694; ENSP00000462313; ENSG00000141448 [Q92908-1]
GeneIDi2627
KEGGihsa:2627
UCSCiuc002ktt.2 human [Q92908-1]

Keywords - Coding sequence diversityi

Alternative initiation, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U66075 mRNA Translation: AAC50941.1
X95701 mRNA Translation: CAA64997.1
D87811 mRNA Translation: BAA22621.1
EF444980 Genomic DNA Translation: ACA05995.1
AC091588 Genomic DNA No translation available.
CH471088 Genomic DNA Translation: EAX01137.1
CCDSiCCDS11872.1 [Q92908-1]
RefSeqiNP_005248.2, NM_005257.5 [Q92908-1]
UniGeneiHs.514746
Hs.741506

3D structure databases

ProteinModelPortaliQ92908
SMRiQ92908
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108897, 8 interactors
IntActiQ92908, 4 interactors
MINTiQ92908
STRINGi9606.ENSP00000269216

PTM databases

iPTMnetiQ92908
PhosphoSitePlusiQ92908

Polymorphism and mutation databases

BioMutaiGATA6
DMDMi215273987

Proteomic databases

EPDiQ92908
MaxQBiQ92908
PaxDbiQ92908
PeptideAtlasiQ92908
PRIDEiQ92908
ProteomicsDBi75592
75593 [Q92908-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000269216; ENSP00000269216; ENSG00000141448 [Q92908-1]
ENST00000581694; ENSP00000462313; ENSG00000141448 [Q92908-1]
GeneIDi2627
KEGGihsa:2627
UCSCiuc002ktt.2 human [Q92908-1]

Organism-specific databases

CTDi2627
DisGeNETi2627
EuPathDBiHostDB:ENSG00000141448.8
GeneCardsiGATA6
H-InvDBiHIX0039732
HGNCiHGNC:4174 GATA6
HPAiCAB011581
HPA066629
MalaCardsiGATA6
MIMi187500 phenotype
217095 phenotype
600001 phenotype
601656 gene
614474 phenotype
614475 phenotype
neXtProtiNX_Q92908
OpenTargetsiENSG00000141448
Orphaneti99103 Atrial septal defect, ostium secundum type
99067 Complete atrioventricular canal - ventricle hypoplasia
2140 Congenital diaphragmatic hernia
334 Familial atrial fibrillation
2255 Pancreatic hypoplasia - diabetes - congenital heart disease
1330 Partial atrioventricular canal
3303 Tetralogy of Fallot
PharmGKBiPA28589
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1601 Eukaryota
COG5641 LUCA
GeneTreeiENSGT00760000119221
HOGENOMiHOG000047700
HOVERGENiHBG051703
InParanoidiQ92908
KOiK17897
OMAiGAHPGWP
OrthoDBiEOG091G0AUR
PhylomeDBiQ92908
TreeFamiTF315391

Enzyme and pathway databases

ReactomeiR-HSA-5683826 Surfactant metabolism
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
SignaLinkiQ92908
SIGNORiQ92908

Miscellaneous databases

ChiTaRSiGATA6 human
GeneWikiiGATA6
GenomeRNAii2627
PROiPR:Q92908
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000141448 Expressed in 158 organ(s), highest expression level in germinal epithelium of ovary
CleanExiHS_GATA6
GenevisibleiQ92908 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 nameiGATA6_HUMAN
AccessioniPrimary (citable) accession number: Q92908
Secondary accession number(s): B0YJ17, P78327
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 25, 2008
Last modified: October 10, 2018
This is version 165 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

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  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
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