ID GATA6_HUMAN Reviewed; 595 AA. AC Q92908; B0YJ17; P78327; DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot. DT 25-NOV-2008, sequence version 2. DT 24-JAN-2024, entry version 196. DE RecName: Full=Transcription factor GATA-6; DE AltName: Full=GATA-binding factor 6; GN Name=GATA6; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). RX PubMed=8975704; DOI=10.1006/geno.1996.0630; RA Suzuki E., Evans T., Lowry J., Truong L., Bell D.W., Testa J.R., Walsh K.; RT "The human GATA-6 gene: structure, chromosomal location, and regulation of RT expression by tissue-specific and mitogen-responsive signals."; RL Genomics 38:283-290(1996). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). RC TISSUE=Heart; RX PubMed=9294001; DOI=10.1016/s0167-4781(97)00049-3; RA Huggon I.C., Davies A., Gove C., Moscoso G., Moniz C., Foss Y., RA Farzaneh F., Towner P.; RT "Molecular cloning of human GATA-6 DNA binding protein: high levels of RT expression in heart and gut."; RL Biochim. Biophys. Acta 1353:98-102(1997). RN [3] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND FUNCTION. RX PubMed=9315713; DOI=10.1016/s0014-5793(97)01017-x; RA Yoshida T., Sato R., Mahmood S., Kawasaki S., Futai M., Maeda M.; RT "GATA-6 DNA binding protein expressed in human gastric adenocarcinoma MKN45 RT cells."; RL FEBS Lett. 414:333-337(1997). RN [4] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RG NHLBI resequencing and genotyping service (RS&G); RL Submitted (DEC-2005) to the EMBL/GenBank/DDBJ databases. RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=16177791; DOI=10.1038/nature03983; RA Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., RA Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., RA Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J., RA Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L., RA Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., RA Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., RA Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K., RA Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R., RA Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.; RT "DNA sequence and analysis of human chromosome 18."; RL Nature 437:551-555(2005). RN [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., RA Hunkapiller M.W., Myers E.W., Venter J.C.; RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases. RN [7] RP ALTERNATIVE INITIATION. RX PubMed=10608869; DOI=10.1074/jbc.274.53.38004; RA Brewer A., Gove C., Davies A., McNulty C., Barrow D., Koutsourakis M., RA Farzaneh F., Pizzey J., Bomford A., Patient R.; RT "The human and mouse GATA-6 genes utilize two promoters and two initiation RT codons."; RL J. Biol. Chem. 274:38004-38016(1999). RN [8] RP FUNCTION. RX PubMed=16968778; DOI=10.1073/pnas.0603424103; RA Shapira M., Hamlin B.J., Rong J., Chen K., Ronen M., Tan M.W.; RT "A conserved role for a GATA transcription factor in regulating epithelial RT innate immune responses."; RL Proc. Natl. Acad. Sci. U.S.A. 103:14086-14091(2006). RN [9] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-268, AND IDENTIFICATION BY RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RC TISSUE=Cervix carcinoma; RX PubMed=18669648; DOI=10.1073/pnas.0805139105; RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., RA Elledge S.J., Gygi S.P.; RT "A quantitative atlas of mitotic phosphorylation."; RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008). RN [10] RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RX PubMed=19413330; DOI=10.1021/ac9004309; RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.; RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in a RT refined SCX-based approach."; RL Anal. Chem. 81:4493-4501(2009). RN [11] RP FUNCTION, SUBCELLULAR LOCATION, VARIANT CTHM HIS-466, VARIANT ARG-15, AND RP CHARACTERIZATION OF VARIANT CTHM HIS-466. RX PubMed=19666519; DOI=10.1073/pnas.0904744106; RA Kodo K., Nishizawa T., Furutani M., Arai S., Yamamura E., Joo K., RA Takahashi T., Matsuoka R., Yamagishi H.; RT "GATA6 mutations cause human cardiac outflow tract defects by disrupting RT semaphorin-plexin signaling."; RL Proc. Natl. Acad. Sci. U.S.A. 106:13933-13938(2009). RN [12] RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RC TISSUE=Cervix carcinoma; RX PubMed=20068231; DOI=10.1126/scisignal.2000475; RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.; RT "Quantitative phosphoproteomics reveals widespread full phosphorylation RT site occupancy during mitosis."; RL Sci. Signal. 3:RA3-RA3(2010). RN [13] RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-429; LYS-473 AND LYS-484, AND RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RX PubMed=28112733; DOI=10.1038/nsmb.3366; RA Hendriks I.A., Lyon D., Young C., Jensen L.J., Vertegaal A.C., RA Nielsen M.L.; RT "Site-specific mapping of the human SUMO proteome reveals co-modification RT with phosphorylation."; RL Nat. Struct. Mol. Biol. 24:325-336(2017). RN [14] RP FUNCTION, TISSUE SPECIFICITY, AND INDUCTION BY CUTIBACTERIUM ACNES. RX PubMed=33082341; DOI=10.1038/s41467-020-18784-z; RA Oules B., Philippeos C., Segal J., Tihy M., Vietri Rudan M., Cujba A.M., RA Grange P.A., Quist S., Natsuga K., Deschamps L., Dupin N., Donati G., RA Watt F.M.; RT "Contribution of GATA6 to homeostasis of the human upper pilosebaceous unit RT and acne pathogenesis."; RL Nat. Commun. 11:5067-5067(2020). RN [15] RP VARIANT ASD9 ASN-184, VARIANT TOF ASN-184, CHARACTERIZATION OF VARIANT ASD9 RP ASN-184, AND VARIANT ARG-15. RX PubMed=20631719; DOI=10.1038/jhg.2010.84; RA Lin X., Huo Z., Liu X., Zhang Y., Li L., Zhao H., Yan B., Liu Y., Yang Y., RA Chen Y.H.; RT "A novel GATA6 mutation in patients with tetralogy of Fallot or atrial RT septal defect."; RL J. Hum. Genet. 55:662-667(2010). RN [16] RP VARIANT ARG-15, VARIANT AVSD5 VAL-178, VARIANT TOF VAL-198, RP CHARACTERIZATION OF VARIANT AVSD5 VAL-178, AND CHARACTERIZATION OF VARIANT RP TOF VAL-198. RX PubMed=20581743; DOI=10.1203/pdr.0b013e3181ed17e4; RA Maitra M., Koenig S.N., Srivastava D., Garg V.; RT "Identification of GATA6 sequence variants in patients with congenital RT heart defects."; RL Pediatr. Res. 68:281-285(2010). RN [17] RP VARIANTS ARG-15 AND SER-235, CHARACTERIZATION OF VARIANT SER-235, AND RP FUNCTION. RX PubMed=22750565; DOI=10.1016/j.ejmg.2012.06.007; RA Yang Y.Q., Li L., Wang J., Zhang X.L., Li R.G., Xu Y.J., Tan H.W., RA Wang X.H., Jiang J.Q., Fang W.Y., Liu X.; RT "GATA6 loss-of-function mutation in atrial fibrillation."; RL Eur. J. Med. Genet. 55:520-526(2012). RN [18] RP VARIANT VAL-469, CHARACTERIZATION OF VARIANT VAL-469, AND FUNCTION. RX PubMed=22824924; DOI=10.3892/ijmm.2012.1068; RA Li J., Liu W.D., Yang Z.L., Yang Y.Q.; RT "Novel GATA6 loss-of-function mutation responsible for familial atrial RT fibrillation."; RL Int. J. Mol. Med. 30:783-790(2012). RN [19] RP VARIANTS PACHD ALA-452; CYS-456; HIS-456; ASP-466; THR-467 AND GLN-473, AND RP CHARACTERIZATION OF VARIANTS PACHD CYS-456; ASP-466; THR-467 AND GLN-473. RX PubMed=22158542; DOI=10.1038/ng.1035; RA Allen H.L., Flanagan S.E., Shaw-Smith C., De Franco E., Akerman I., RA Caswell R., Ferrer J., Hattersley A.T., Ellard S.; RT "GATA6 haploinsufficiency causes pancreatic agenesis in humans."; RL Nat. Genet. 44:20-22(2012). RN [20] RP VARIANTS SER-91; THR-177; GLY-543 AND LEU-585, CHARACTERIZATION OF VARIANTS RP SER-91; THR-177; GLY-543 AND LEU-585, FUNCTION, AND SUBCELLULAR LOCATION. RX PubMed=27756709; DOI=10.1016/j.hrthm.2016.10.014; RA Tucker N.R., Mahida S., Ye J., Abraham E.J., Mina J.A., Parsons V.A., RA McLellan M.A., Shea M.A., Hanley A., Benjamin E.J., Milan D.J., Lin H., RA Ellinor P.T.; RT "Gain-of-function mutations in GATA6 lead to atrial fibrillation."; RL Heart Rhythm 14:284-291(2017). CC -!- FUNCTION: Transcriptional activator (PubMed:19666519, PubMed:27756709, CC PubMed:22750565, PubMed:22824924). Regulates SEMA3C and PLXNA2 CC (PubMed:19666519). Involved in gene regulation specifically in the CC gastric epithelium (PubMed:9315713). May regulate genes that protect CC epithelial cells from bacterial infection (PubMed:16968778). Involved CC in bone morphogenetic protein (BMP)-mediated cardiac-specific gene CC expression (By similarity). Binds to BMP response element (BMPRE) DNA CC sequences within cardiac activating regions (By similarity). In human CC skin, controls several physiological processes contributing to CC homeostasis of the upper pilosebaceous unit. Triggers ductal and CC sebaceous differentiation as well as limits cell proliferation and CC lipid production to prevent hyperseborrhoea. Mediates the effects of CC retinoic acid on sebocyte proliferation, differentiation and lipid CC production. Also contributes to immune regulation of sebocytes and CC antimicrobial responses by modulating the expression of anti- CC inflammatory genes such as IL10 and pro-inflammatory genes such as IL6, CC TLR2, TLR4, and IFNG. Activates TGFB1 signaling which controls the CC interfollicular epidermis fate (PubMed:33082341). CC {ECO:0000250|UniProtKB:Q61169, ECO:0000269|PubMed:16968778, CC ECO:0000269|PubMed:19666519, ECO:0000269|PubMed:22750565, CC ECO:0000269|PubMed:22824924, ECO:0000269|PubMed:27756709, CC ECO:0000269|PubMed:33082341, ECO:0000269|PubMed:9315713}. CC -!- SUBUNIT: Interacts with LMCD1. {ECO:0000250}. CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19666519, CC ECO:0000269|PubMed:27756709}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative initiation; Named isoforms=2; CC Name=1; CC IsoId=Q92908-1; Sequence=Displayed; CC Name=2; CC IsoId=Q92908-2; Sequence=VSP_035778; CC -!- TISSUE SPECIFICITY: Expressed in heart, gut and gut-derived tissues. CC Expressed in skin upper pilosebaceous unit. Expression is decreased or CC lost in acne lesions (PubMed:33082341). {ECO:0000269|PubMed:33082341}. CC -!- INDUCTION: In sebocytes, expression is up-regulated by Cutibacterium CC acnes. {ECO:0000269|PubMed:33082341}. CC -!- DOMAIN: The GATA-type zinc fingers mediate interaction with LMCD1. CC {ECO:0000250}. CC -!- DISEASE: Note=Rare variants in GATA6 may be a cause of susceptibility CC to atrial fibrillation, a common sustained cardiac rhythm disturbance. CC Atrial fibrillation is characterized by disorganized atrial electrical CC activity and ineffective atrial contraction promoting blood stasis in CC the atria and reduces ventricular filling. It can result in CC palpitations, syncope, thromboembolic stroke, and congestive heart CC failure. {ECO:0000269|PubMed:22750565, ECO:0000269|PubMed:22824924, CC ECO:0000269|PubMed:27756709}. CC -!- DISEASE: Conotruncal heart malformations (CTHM) [MIM:217095]: A group CC of congenital heart defects involving the outflow tracts. Examples CC include truncus arteriosus communis, double-outlet right ventricle and CC transposition of great arteries. Truncus arteriosus communis is CC characterized by a single outflow tract instead of a separate aorta and CC pulmonary artery. In transposition of the great arteries, the aorta CC arises from the right ventricle and the pulmonary artery from the left CC ventricle. In double outlet of the right ventricle, both the pulmonary CC artery and aorta arise from the right ventricle. CC {ECO:0000269|PubMed:19666519}. Note=The disease is caused by variants CC affecting the gene represented in this entry. GATA6 mutations have been CC found in patients with non-syndromic persistent truncus arteriosus CC (PubMed:19666519). {ECO:0000269|PubMed:19666519}. CC -!- DISEASE: Atrial septal defect 9 (ASD9) [MIM:614475]: A congenital heart CC malformation characterized by incomplete closure of the wall between CC the atria resulting in blood flow from the left to the right atria. CC Some patients manifest tricuspid valve disease, pulmonary valve CC disease, and pulmonary artery hypertension. CC {ECO:0000269|PubMed:20631719}. Note=The disease is caused by variants CC affecting the gene represented in this entry. CC -!- DISEASE: Tetralogy of Fallot (TOF) [MIM:187500]: A congenital heart CC anomaly which consists of pulmonary stenosis, ventricular septal CC defect, dextroposition of the aorta (aorta is on the right side instead CC of the left) and hypertrophy of the right ventricle. In this condition, CC blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into CC the body often causing cyanosis. {ECO:0000269|PubMed:20581743, CC ECO:0000269|PubMed:20631719}. Note=The disease is caused by variants CC affecting the gene represented in this entry. CC -!- DISEASE: Atrioventricular septal defect 5 (AVSD5) [MIM:614474]: A CC congenital heart malformation characterized by a common CC atrioventricular junction coexisting with deficient atrioventricular CC septation. The complete form involves underdevelopment of the lower CC part of the atrial septum and the upper part of the ventricular septum; CC the valve itself is also shared. A less severe form, known as ostium CC primum atrial septal defect, is characterized by separate CC atrioventricular valvar orifices despite a common junction. CC {ECO:0000269|PubMed:20581743}. Note=The disease is caused by variants CC affecting the gene represented in this entry. CC -!- DISEASE: Pancreatic agenesis and congenital heart defects (PACHD) CC [MIM:600001]: An autosomal dominant disease characterized by pancreatic CC severe hypoplasia or agenesis, diabetes mellitus, and congenital heart CC abnormalities including ventricular septal defect, patent ductus CC arteriosus, pulmonary artery stenosis, truncus arteriosus and tetralogy CC of Fallot. {ECO:0000269|PubMed:22158542}. Note=The disease is caused by CC variants affecting the gene represented in this entry. CC -!- MISCELLANEOUS: [Isoform 2]: Produced by alternative initiation at Met- CC 147 of isoform 1. {ECO:0000305}. CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and CC Haematology; CC URL="https://atlasgeneticsoncology.org/gene/40690/GATA6"; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; U66075; AAC50941.1; -; mRNA. DR EMBL; X95701; CAA64997.1; -; mRNA. DR EMBL; D87811; BAA22621.1; -; mRNA. DR EMBL; EF444980; ACA05995.1; -; Genomic_DNA. DR EMBL; AC091588; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH471088; EAX01137.1; -; Genomic_DNA. DR CCDS; CCDS11872.1; -. [Q92908-1] DR RefSeq; NP_005248.2; NM_005257.5. [Q92908-1] DR AlphaFoldDB; Q92908; -. DR SMR; Q92908; -. DR BioGRID; 108897; 21. DR IntAct; Q92908; 6. DR MINT; Q92908; -. DR STRING; 9606.ENSP00000269216; -. DR iPTMnet; Q92908; -. DR PhosphoSitePlus; Q92908; -. DR BioMuta; GATA6; -. DR DMDM; 215273987; -. DR EPD; Q92908; -. DR jPOST; Q92908; -. DR MassIVE; Q92908; -. DR MaxQB; Q92908; -. DR PaxDb; 9606-ENSP00000269216; -. DR PeptideAtlas; Q92908; -. DR ProteomicsDB; 75592; -. [Q92908-1] DR ProteomicsDB; 75593; -. [Q92908-2] DR Pumba; Q92908; -. DR Antibodypedia; 22009; 570 antibodies from 36 providers. DR DNASU; 2627; -. DR Ensembl; ENST00000269216.10; ENSP00000269216.3; ENSG00000141448.11. [Q92908-1] DR Ensembl; ENST00000581694.1; ENSP00000462313.1; ENSG00000141448.11. [Q92908-1] DR GeneID; 2627; -. DR KEGG; hsa:2627; -. DR MANE-Select; ENST00000269216.10; ENSP00000269216.3; NM_005257.6; NP_005248.2. DR UCSC; uc002ktt.2; human. [Q92908-1] DR AGR; HGNC:4174; -. DR CTD; 2627; -. DR DisGeNET; 2627; -. DR GeneCards; GATA6; -. DR HGNC; HGNC:4174; GATA6. DR HPA; ENSG00000141448; Tissue enhanced (adrenal gland, ovary). DR MalaCards; GATA6; -. DR MIM; 187500; phenotype. DR MIM; 217095; phenotype. DR MIM; 600001; phenotype. DR MIM; 601656; gene. DR MIM; 614474; phenotype. DR MIM; 614475; phenotype. DR neXtProt; NX_Q92908; -. DR OpenTargets; ENSG00000141448; -. DR Orphanet; 99103; Atrial septal defect, ostium secundum type. DR Orphanet; 99067; Complete atrioventricular septal defect with ventricular hypoplasia. DR Orphanet; 2140; Congenital diaphragmatic hernia. DR Orphanet; 334; Familial atrial fibrillation. DR Orphanet; 2255; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome. DR Orphanet; 3303; Tetralogy of Fallot. DR PharmGKB; PA28589; -. DR VEuPathDB; HostDB:ENSG00000141448; -. DR eggNOG; KOG1601; Eukaryota. DR GeneTree; ENSGT00940000160814; -. DR HOGENOM; CLU_027524_0_0_1; -. DR InParanoid; Q92908; -. DR OMA; ENSMLHC; -. DR OrthoDB; 685518at2759; -. DR PhylomeDB; Q92908; -. DR TreeFam; TF315391; -. DR PathwayCommons; Q92908; -. DR Reactome; R-HSA-5683826; Surfactant metabolism. DR Reactome; R-HSA-9733709; Cardiogenesis. DR Reactome; R-HSA-9823730; Formation of definitive endoderm. DR Reactome; R-HSA-983231; Factors involved in megakaryocyte development and platelet production. DR SignaLink; Q92908; -. DR SIGNOR; Q92908; -. DR BioGRID-ORCS; 2627; 33 hits in 1174 CRISPR screens. DR ChiTaRS; GATA6; human. DR GeneWiki; GATA6; -. DR GenomeRNAi; 2627; -. DR Pharos; Q92908; Tbio. DR PRO; PR:Q92908; -. DR Proteomes; UP000005640; Chromosome 18. DR RNAct; Q92908; Protein. DR Bgee; ENSG00000141448; Expressed in germinal epithelium of ovary and 136 other cell types or tissues. DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB. DR GO; GO:0031965; C:nuclear membrane; IDA:HPA. DR GO; GO:0005654; C:nucleoplasm; IDA:HPA. DR GO; GO:0005634; C:nucleus; IDA:UniProtKB. DR GO; GO:0005667; C:transcription regulator complex; IEA:Ensembl. DR GO; GO:0003682; F:chromatin binding; IEA:Ensembl. DR GO; GO:0003700; F:DNA-binding transcription factor activity; IDA:UniProtKB. DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IMP:UniProtKB. DR GO; GO:0140297; F:DNA-binding transcription factor binding; IPI:UniProtKB. DR GO; GO:0051525; F:NFAT protein binding; IPI:UniProtKB. DR GO; GO:0019901; F:protein kinase binding; IPI:UniProtKB. DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central. DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL. DR GO; GO:0000976; F:transcription cis-regulatory region binding; IDA:UniProtKB. DR GO; GO:0001223; F:transcription coactivator binding; IPI:UniProtKB. DR GO; GO:0008270; F:zinc ion binding; IEA:InterPro. DR GO; GO:0048645; P:animal organ formation; IEA:Ensembl. DR GO; GO:0036302; P:atrioventricular canal development; NAS:BHF-UCL. DR GO; GO:0003162; P:atrioventricular node development; NAS:BHF-UCL. DR GO; GO:0055007; P:cardiac muscle cell differentiation; IEA:Ensembl. DR GO; GO:0060038; P:cardiac muscle cell proliferation; IEA:Ensembl. DR GO; GO:0014898; P:cardiac muscle hypertrophy in response to stress; IEA:Ensembl. DR GO; GO:0060947; P:cardiac vascular smooth muscle cell differentiation; IMP:UniProtKB. DR GO; GO:0045165; P:cell fate commitment; IBA:GO_Central. DR GO; GO:0071773; P:cellular response to BMP stimulus; IEA:Ensembl. DR GO; GO:0071371; P:cellular response to gonadotropin stimulus; IEA:Ensembl. DR GO; GO:0071456; P:cellular response to hypoxia; IDA:UniProtKB. DR GO; GO:0060486; P:club cell differentiation; IEA:Ensembl. DR GO; GO:0007493; P:endodermal cell fate determination; IEA:Ensembl. DR GO; GO:0030855; P:epithelial cell differentiation; IBA:GO_Central. DR GO; GO:0070315; P:G1 to G0 transition involved in cell differentiation; IDA:UniProtKB. DR GO; GO:0010467; P:gene expression; IEA:Ensembl. DR GO; GO:0060047; P:heart contraction; IEA:Ensembl. DR GO; GO:0001701; P:in utero embryonic development; IEA:Ensembl. DR GO; GO:0060575; P:intestinal epithelial cell differentiation; IDA:MGI. DR GO; GO:0001889; P:liver development; IEA:Ensembl. DR GO; GO:0060430; P:lung saccule development; IEA:Ensembl. DR GO; GO:0008584; P:male gonad development; IEP:UniProtKB. DR GO; GO:0043066; P:negative regulation of apoptotic process; IMP:UniProtKB. DR GO; GO:0045892; P:negative regulation of DNA-templated transcription; IDA:UniProtKB. DR GO; GO:1902894; P:negative regulation of miRNA transcription; IEA:Ensembl. DR GO; GO:1904003; P:negative regulation of sebum secreting cell proliferation; IDA:UniProtKB. DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:UniProtKB. DR GO; GO:0032911; P:negative regulation of transforming growth factor beta1 production; IMP:UniProtKB. DR GO; GO:0032912; P:negative regulation of transforming growth factor beta2 production; IMP:UniProtKB. DR GO; GO:0042475; P:odontogenesis of dentin-containing tooth; IEA:Ensembl. DR GO; GO:0003148; P:outflow tract septum morphogenesis; IMP:BHF-UCL. DR GO; GO:0003310; P:pancreatic A cell differentiation; IEA:Ensembl. DR GO; GO:0006644; P:phospholipid metabolic process; IEA:Ensembl. DR GO; GO:0045766; P:positive regulation of angiogenesis; IDA:UniProtKB. DR GO; GO:0030513; P:positive regulation of BMP signaling pathway; IEA:Ensembl. DR GO; GO:0010666; P:positive regulation of cardiac muscle cell apoptotic process; IEA:Ensembl. DR GO; GO:0060045; P:positive regulation of cardiac muscle cell proliferation; IEA:Ensembl. DR GO; GO:0110024; P:positive regulation of cardiac muscle myoblast proliferation; IDA:BHF-UCL. DR GO; GO:0045893; P:positive regulation of DNA-templated transcription; IMP:UniProtKB. DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:UniProtKB. DR GO; GO:1901390; P:positive regulation of transforming growth factor beta activation; IDA:UniProtKB. DR GO; GO:0002759; P:regulation of antimicrobial humoral response; IDA:UniProtKB. DR GO; GO:0051591; P:response to cAMP; IEA:Ensembl. DR GO; GO:0043627; P:response to estrogen; IEA:Ensembl. DR GO; GO:0070848; P:response to growth factor; IDA:UniProtKB. DR GO; GO:0032526; P:response to retinoic acid; IDA:UniProtKB. DR GO; GO:0009636; P:response to toxic substance; IEA:Ensembl. DR GO; GO:0009410; P:response to xenobiotic stimulus; IMP:UniProtKB. DR GO; GO:0001949; P:sebaceous gland cell differentiation; IDA:UniProtKB. DR GO; GO:0003163; P:sinoatrial node development; IEA:Ensembl. DR GO; GO:0098773; P:skin epidermis development; IDA:UniProtKB. DR GO; GO:0051145; P:smooth muscle cell differentiation; IMP:UniProtKB. DR GO; GO:0048863; P:stem cell differentiation; IEA:Ensembl. DR GO; GO:0035239; P:tube morphogenesis; IEA:Ensembl. DR GO; GO:0003309; P:type B pancreatic cell differentiation; IEA:Ensembl. DR GO; GO:0060510; P:type II pneumocyte differentiation; IEA:Ensembl. DR CDD; cd00202; ZnF_GATA; 2. DR Gene3D; 3.30.50.10; Erythroid Transcription Factor GATA-1, subunit A; 2. DR InterPro; IPR008013; GATA_N. DR InterPro; IPR039355; Transcription_factor_GATA. DR InterPro; IPR000679; Znf_GATA. DR InterPro; IPR013088; Znf_NHR/GATA. DR PANTHER; PTHR10071; TRANSCRIPTION FACTOR GATA FAMILY MEMBER; 1. DR PANTHER; PTHR10071:SF23; TRANSCRIPTION FACTOR GATA-6; 1. DR Pfam; PF00320; GATA; 2. DR Pfam; PF05349; GATA-N; 1. DR PRINTS; PR00619; GATAZNFINGER. DR SMART; SM00401; ZnF_GATA; 2. DR SUPFAM; SSF57716; Glucocorticoid receptor-like (DNA-binding domain); 2. DR PROSITE; PS00344; GATA_ZN_FINGER_1; 2. DR PROSITE; PS50114; GATA_ZN_FINGER_2; 2. DR Genevisible; Q92908; HS. PE 1: Evidence at protein level; KW Activator; Alternative initiation; Atrial septal defect; Disease variant; KW DNA-binding; Isopeptide bond; Metal-binding; Nucleus; Phosphoprotein; KW Reference proteome; Repeat; Transcription; Transcription regulation; KW Ubl conjugation; Zinc; Zinc-finger. FT CHAIN 1..595 FT /note="Transcription factor GATA-6" FT /id="PRO_0000083423" FT ZN_FING 390..414 FT /note="GATA-type 1" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00094" FT ZN_FING 444..468 FT /note="GATA-type 2" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00094" FT REGION 14..71 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 208..255 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 286..339 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 482..561 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 321..335 FT /note="Basic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 500..541 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT MOD_RES 268 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:18669648" FT CROSSLNK 429 FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with FT G-Cter in SUMO2)" FT /evidence="ECO:0007744|PubMed:28112733" FT CROSSLNK 473 FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with FT G-Cter in SUMO2)" FT /evidence="ECO:0007744|PubMed:28112733" FT CROSSLNK 484 FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with FT G-Cter in SUMO2)" FT /evidence="ECO:0007744|PubMed:28112733" FT VAR_SEQ 1..146 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000303|PubMed:8975704, FT ECO:0000303|PubMed:9294001, ECO:0000303|PubMed:9315713" FT /id="VSP_035778" FT VARIANT 15 FT /note="G -> R (in dbSNP:rs116262672)" FT /evidence="ECO:0000269|PubMed:19666519, FT ECO:0000269|PubMed:20581743, ECO:0000269|PubMed:20631719, FT ECO:0000269|PubMed:22750565" FT /id="VAR_067380" FT VARIANT 91 FT /note="P -> S (found in patients with atrial fibrillation; FT likely pathogenic; gain of function; no effect on FT subcellular localization; dbSNP:rs766886560)" FT /evidence="ECO:0000269|PubMed:27756709" FT /id="VAR_078427" FT VARIANT 177 FT /note="A -> T (found in patients with atrial fibrillation; FT likely pathogenic; gain of function; no effect on FT subcellular localization; dbSNP:rs1263887431)" FT /evidence="ECO:0000269|PubMed:27756709" FT /id="VAR_078428" FT VARIANT 178 FT /note="A -> V (in AVSD5; increased transcriptional FT activity; dbSNP:rs387906815)" FT /evidence="ECO:0000269|PubMed:20581743" FT /id="VAR_067381" FT VARIANT 184 FT /note="S -> N (in ASD9 and TOF; loss of transcriptional FT activity; dbSNP:rs387906816)" FT /evidence="ECO:0000269|PubMed:20631719" FT /id="VAR_067382" FT VARIANT 198 FT /note="L -> V (in TOF; uncertain significance; does not FT affect transcriptional activity; dbSNP:rs387906814)" FT /evidence="ECO:0000269|PubMed:20581743" FT /id="VAR_067383" FT VARIANT 235 FT /note="Y -> S (found in patients with atrial fibrillation; FT likely pathogenic; significant loss of transcriptional FT activator activity)" FT /evidence="ECO:0000269|PubMed:22750565" FT /id="VAR_078429" FT VARIANT 452 FT /note="T -> A (in PACHD; dbSNP:rs387906817)" FT /evidence="ECO:0000269|PubMed:22158542" FT /id="VAR_067384" FT VARIANT 456 FT /note="R -> C (in PACHD; loss of transcriptional activity; FT dbSNP:rs387906818)" FT /evidence="ECO:0000269|PubMed:22158542" FT /id="VAR_067385" FT VARIANT 456 FT /note="R -> H (in PACHD; dbSNP:rs387906819)" FT /evidence="ECO:0000269|PubMed:22158542" FT /id="VAR_067386" FT VARIANT 466 FT /note="N -> D (in PACHD; loss of transcriptional activity; FT dbSNP:rs387906813)" FT /evidence="ECO:0000269|PubMed:22158542" FT /id="VAR_067387" FT VARIANT 466 FT /note="N -> H (in CTHM; persistent truncus arteriosus; loss FT of transcriptional activity; dbSNP:rs387906813)" FT /evidence="ECO:0000269|PubMed:19666519" FT /id="VAR_067388" FT VARIANT 467 FT /note="A -> T (in PACHD; loss of transcriptional activity; FT dbSNP:rs387906820)" FT /evidence="ECO:0000269|PubMed:22158542" FT /id="VAR_067389" FT VARIANT 469 FT /note="G -> V (found in patients with atrial fibrillation; FT likely pathogenic; significant loss of transcriptional FT activator activity)" FT /evidence="ECO:0000269|PubMed:22824924" FT /id="VAR_078430" FT VARIANT 473 FT /note="K -> Q (in PACHD; loss of transcriptional activity)" FT /evidence="ECO:0000269|PubMed:22158542" FT /id="VAR_067390" FT VARIANT 543 FT /note="A -> G (found in patients with atrial fibrillation; FT likely pathogenic; gain of function; no effect on FT subcellular localization; dbSNP:rs761668180)" FT /evidence="ECO:0000269|PubMed:27756709" FT /id="VAR_078431" FT VARIANT 585 FT /note="R -> L (found in patients with atrial fibrillation; FT likely pathogenic; gain of function; no effect on FT subcellular localization; dbSNP:rs201707559)" FT /evidence="ECO:0000269|PubMed:27756709" FT /id="VAR_078432" FT CONFLICT 281 FT /note="G -> V (in Ref. 2; CAA64997)" FT /evidence="ECO:0000305" SQ SEQUENCE 595 AA; 60033 MW; C4D5410916543E0B CRC64; MALTDGGWCL PKRFGAAGAD ASDSRAFPAR EPSTPPSPIS SSSSSCSRGG ERGPGGASNC GTPQLDTEAA AGPPARSLLL SSYASHPFGA PHGPSAPGVA GPGGNLSSWE DLLLFTDLDQ AATASKLLWS SRGAKLSPFA PEQPEEMYQT LAALSSQGPA AYDGAPGGFV HSAAAAAAAA AAASSPVYVP TTRVGSMLPG LPYHLQGSGS GPANHAGGAG AHPGWPQASA DSPPYGSGGG AAGGGAAGPG GAGSAAAHVS ARFPYSPSPP MANGAAREPG GYAAAGSGGA GGVSGGGSSL AAMGGREPQY SSLSAARPLN GTYHHHHHHH HHHPSPYSPY VGAPLTPAWP AGPFETPVLH SLQSRAGAPL PVPRGPSADL LEDLSESREC VNCGSIQTPL WRRDGTGHYL CNACGLYSKM NGLSRPLIKP QKRVPSSRRL GLSCANCHTT TTTLWRRNAE GEPVCNACGL YMKLHGVPRP LAMKKEGIQT RKRKPKNINK SKTCSGNSNN SIPMTPTSTS SNSDDCSKNT SPTTQPTASG AGAPVMTGAG ESTNPENSEL KYSGQDGLYI GVSLASPAEV TSSVRPDSWC ALALA //