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Q92908

- GATA6_HUMAN

UniProt

Q92908 - GATA6_HUMAN

Protein

Transcription factor GATA-6

Gene

GATA6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 125 (01 Oct 2014)
      Sequence version 2 (25 Nov 2008)
      Previous versions | rss
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    Functioni

    Transcriptional activator that regulates SEMA3C and PLXNA2. Thought to be important for regulating terminal differentiation and/or proliferation. Involved in gene regulation specifically in the gastric epithelium. Involved in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression. Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri390 – 41425GATA-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri444 – 46825GATA-type 2PROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. chromatin binding Source: Ensembl
    2. protein binding Source: UniProtKB
    3. protein kinase binding Source: UniProtKB
    4. RNA polymerase II core promoter sequence-specific DNA binding Source: Ensembl
    5. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: Ensembl
    6. sequence-specific DNA binding RNA polymerase II transcription factor activity Source: UniProtKB
    7. sequence-specific DNA binding transcription factor activity Source: BHF-UCL
    8. transcription factor binding Source: UniProtKB
    9. transcription regulatory region DNA binding Source: UniProtKB
    10. zinc ion binding Source: InterPro

    GO - Biological processi

    1. blood coagulation Source: Reactome
    2. cardiac muscle cell differentiation Source: Ensembl
    3. cardiac muscle hypertrophy in response to stress Source: Ensembl
    4. cardiac vascular smooth muscle cell differentiation Source: UniProtKB
    5. cellular response to BMP stimulus Source: Ensembl
    6. cellular response to gonadotropin stimulus Source: Ensembl
    7. cellular response to hypoxia Source: UniProtKB
    8. Clara cell differentiation Source: Ensembl
    9. endodermal cell fate determination Source: Ensembl
    10. intestinal epithelial cell differentiation Source: MGI
    11. in utero embryonic development Source: Ensembl
    12. liver development Source: Ensembl
    13. lung saccule development Source: Ensembl
    14. male gonad development Source: UniProtKB
    15. negative regulation of apoptotic process Source: UniProtKB
    16. negative regulation of transcription, DNA-templated Source: UniProtKB
    17. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    18. negative regulation of transforming growth factor beta1 production Source: UniProtKB
    19. negative regulation of transforming growth factor beta2 production Source: UniProtKB
    20. organ formation Source: Ensembl
    21. outflow tract septum morphogenesis Source: BHF-UCL
    22. pancreatic A cell differentiation Source: Ensembl
    23. phospholipid metabolic process Source: Ensembl
    24. positive regulation of angiogenesis Source: UniProtKB
    25. positive regulation of cardiac muscle cell proliferation Source: Ensembl
    26. positive regulation of cardioblast differentiation Source: Ensembl
    27. positive regulation of cell cycle arrest Source: UniProtKB
    28. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    29. response to drug Source: UniProtKB
    30. response to estrogen Source: Ensembl
    31. response to growth factor Source: UniProtKB
    32. smooth muscle cell differentiation Source: UniProtKB
    33. transcription from RNA polymerase II promoter Source: BHF-UCL
    34. tube morphogenesis Source: Ensembl
    35. type B pancreatic cell differentiation Source: Ensembl
    36. Type II pneumocyte differentiation Source: Ensembl

    Keywords - Molecular functioni

    Activator

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding, Metal-binding, Zinc

    Enzyme and pathway databases

    ReactomeiREACT_24970. Factors involved in megakaryocyte development and platelet production.
    SignaLinkiQ92908.

    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
    ProteomesiUP000005640: Chromosome 18

    Organism-specific databases

    HGNCiHGNC:4174. GATA6.

    Subcellular locationi

    Nucleus 1 Publication

    GO - Cellular componenti

    1. nucleoplasm Source: Reactome
    2. nucleus Source: UniProtKB
    3. transcription factor complex Source: Ensembl

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Conotruncal heart malformations (CTHM) [MIM:217095]: A 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.1 Publication
    Note: 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
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti466 – 4661N → H in CTHM; persistent truncus arteriosus; loss of transcriptional activity. 1 Publication
    VAR_067388
    Atrial septal defect 9 (ASD9) [MIM:614475]: 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. Some patients manifest tricuspid valve disease, pulmonary valve disease, and pulmonary artery hypertension.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti184 – 1841S → N in ASD9 and TOF; loss of transcriptional activity. 1 Publication
    VAR_067382
    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 varianti184 – 1841S → N in ASD9 and TOF; loss of transcriptional activity. 1 Publication
    VAR_067382
    Natural varianti198 – 1981L → V in TOF; uncertain pathological significance; does not affect transcriptional activity. 1 Publication
    VAR_067383
    Atrioventricular septal defect 5 (AVSD5) [MIM:614474]: 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 varianti178 – 1781A → V in AVSD5; increased transcriptional activity. 1 Publication
    VAR_067381
    Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001]: An 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti452 – 4521T → A in PACHD. 1 Publication
    VAR_067384
    Natural varianti456 – 4561R → C in PACHD; loss of transcriptional activity. 1 Publication
    VAR_067385
    Natural varianti456 – 4561R → H in PACHD. 1 Publication
    VAR_067386
    Natural varianti466 – 4661N → D in PACHD; loss of transcriptional activity. 1 Publication
    VAR_067387
    Natural varianti467 – 4671A → T in PACHD; loss of transcriptional activity. 1 Publication
    VAR_067389
    Natural varianti473 – 4731K → Q in PACHD; loss of transcriptional activity. 1 Publication
    VAR_067390

    Keywords - Diseasei

    Atrial septal defect, Disease mutation

    Organism-specific databases

    MIMi187500. phenotype.
    217095. phenotype.
    600001. phenotype.
    614474. phenotype.
    614475. phenotype.
    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.
    3303. Tetralogy of Fallot.
    PharmGKBiPA28589.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 595595Transcription factor GATA-6PRO_0000083423Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei268 – 2681Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ92908.
    PaxDbiQ92908.
    PRIDEiQ92908.

    PTM databases

    PhosphoSiteiQ92908.

    Expressioni

    Tissue specificityi

    Expressed in heart, gut and gut-derived tissues.

    Gene expression databases

    ArrayExpressiQ92908.
    BgeeiQ92908.
    CleanExiHS_GATA6.
    GenevestigatoriQ92908.

    Organism-specific databases

    HPAiCAB011581.

    Interactioni

    Subunit structurei

    Interacts with LMCD1.By similarity

    Protein-protein interaction databases

    BioGridi108897. 5 interactions.
    IntActiQ92908. 3 interactions.
    MINTiMINT-3379576.
    STRINGi9606.ENSP00000269216.

    Structurei

    3D structure databases

    ProteinModelPortaliQ92908.
    SMRiQ92908. Positions 386-494.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi173 – 18311Poly-AlaAdd
    BLAST
    Compositional biasi324 – 33310Poly-His
    Compositional biasi449 – 4535Poly-Thr

    Domaini

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

    Sequence similaritiesi

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

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri390 – 41425GATA-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri444 – 46825GATA-type 2PROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiCOG5641.
    HOGENOMiHOG000047700.
    HOVERGENiHBG051703.
    InParanoidiQ92908.
    KOiK17897.
    OMAiGAHPGWP.
    OrthoDBiEOG7CCBRF.
    PhylomeDBiQ92908.
    TreeFamiTF315391.

    Family and domain databases

    Gene3Di3.30.50.10. 2 hits.
    InterProiIPR008013. GATA_N.
    IPR028437. TF_GATA_6.
    IPR000679. Znf_GATA.
    IPR013088. Znf_NHR/GATA.
    [Graphical view]
    PANTHERiPTHR10071:SF23. PTHR10071:SF23. 1 hit.
    PfamiPF00320. GATA. 2 hits.
    PF05349. GATA-N. 1 hit.
    [Graphical view]
    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 initiation. Align

    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

    MALTDGGWCL PKRFGAAGAD ASDSRAFPAR EPSTPPSPIS SSSSSCSRGG    50
    ERGPGGASNC GTPQLDTEAA AGPPARSLLL SSYASHPFGA PHGPSAPGVA 100
    GPGGNLSSWE DLLLFTDLDQ AATASKLLWS SRGAKLSPFA PEQPEEMYQT 150
    LAALSSQGPA AYDGAPGGFV HSAAAAAAAA AAASSPVYVP TTRVGSMLPG 200
    LPYHLQGSGS GPANHAGGAG AHPGWPQASA DSPPYGSGGG AAGGGAAGPG 250
    GAGSAAAHVS ARFPYSPSPP MANGAAREPG GYAAAGSGGA GGVSGGGSSL 300
    AAMGGREPQY SSLSAARPLN GTYHHHHHHH HHHPSPYSPY VGAPLTPAWP 350
    AGPFETPVLH SLQSRAGAPL PVPRGPSADL LEDLSESREC VNCGSIQTPL 400
    WRRDGTGHYL CNACGLYSKM NGLSRPLIKP QKRVPSSRRL GLSCANCHTT 450
    TTTLWRRNAE GEPVCNACGL YMKLHGVPRP LAMKKEGIQT RKRKPKNINK 500
    SKTCSGNSNN SIPMTPTSTS SNSDDCSKNT SPTTQPTASG AGAPVMTGAG 550
    ESTNPENSEL KYSGQDGLYI GVSLASPAEV TSSVRPDSWC ALALA 595
    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)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti281 – 2811G → V in CAA64997. (PubMed:9294001)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti15 – 151G → R.3 Publications
    Corresponds to variant rs116262672 [ dbSNP | Ensembl ].
    VAR_067380
    Natural varianti178 – 1781A → V in AVSD5; increased transcriptional activity. 1 Publication
    VAR_067381
    Natural varianti184 – 1841S → N in ASD9 and TOF; loss of transcriptional activity. 1 Publication
    VAR_067382
    Natural varianti198 – 1981L → V in TOF; uncertain pathological significance; does not affect transcriptional activity. 1 Publication
    VAR_067383
    Natural varianti452 – 4521T → A in PACHD. 1 Publication
    VAR_067384
    Natural varianti456 – 4561R → C in PACHD; loss of transcriptional activity. 1 Publication
    VAR_067385
    Natural varianti456 – 4561R → H in PACHD. 1 Publication
    VAR_067386
    Natural varianti466 – 4661N → D in PACHD; loss of transcriptional activity. 1 Publication
    VAR_067387
    Natural varianti466 – 4661N → H in CTHM; persistent truncus arteriosus; loss of transcriptional activity. 1 Publication
    VAR_067388
    Natural varianti467 – 4671A → T in PACHD; loss of transcriptional activity. 1 Publication
    VAR_067389
    Natural varianti473 – 4731K → Q in PACHD; loss of transcriptional activity. 1 Publication
    VAR_067390

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 146146Missing in isoform 2. 3 PublicationsVSP_035778Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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]
    XP_005258305.1. XM_005258248.2. [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]

    Polymorphism databases

    DMDMi215273987.

    Keywords - Coding sequence diversityi

    Alternative initiation, Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS11872.1. [Q92908-1 ]
    RefSeqi NP_005248.2. NM_005257.5. [Q92908-1 ]
    XP_005258305.1. XM_005258248.2. [Q92908-1 ]
    UniGenei Hs.514746.
    Hs.741506.

    3D structure databases

    ProteinModelPortali Q92908.
    SMRi Q92908. Positions 386-494.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108897. 5 interactions.
    IntActi Q92908. 3 interactions.
    MINTi MINT-3379576.
    STRINGi 9606.ENSP00000269216.

    PTM databases

    PhosphoSitei Q92908.

    Polymorphism databases

    DMDMi 215273987.

    Proteomic databases

    MaxQBi Q92908.
    PaxDbi Q92908.
    PRIDEi Q92908.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000269216 ; ENSP00000269216 ; ENSG00000141448 . [Q92908-1 ]
    ENST00000581694 ; ENSP00000462313 ; ENSG00000141448 . [Q92908-1 ]
    GeneIDi 2627.
    KEGGi hsa:2627.
    UCSCi uc002ktt.2. human. [Q92908-1 ]

    Organism-specific databases

    CTDi 2627.
    GeneCardsi GC18P019749.
    H-InvDB HIX0039732.
    HGNCi HGNC:4174. GATA6.
    HPAi CAB011581.
    MIMi 187500. phenotype.
    217095. phenotype.
    600001. phenotype.
    601656. gene.
    614474. phenotype.
    614475. phenotype.
    neXtProti NX_Q92908.
    Orphaneti 99103. 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.
    3303. Tetralogy of Fallot.
    PharmGKBi PA28589.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5641.
    HOGENOMi HOG000047700.
    HOVERGENi HBG051703.
    InParanoidi Q92908.
    KOi K17897.
    OMAi GAHPGWP.
    OrthoDBi EOG7CCBRF.
    PhylomeDBi Q92908.
    TreeFami TF315391.

    Enzyme and pathway databases

    Reactomei REACT_24970. Factors involved in megakaryocyte development and platelet production.
    SignaLinki Q92908.

    Miscellaneous databases

    GeneWikii GATA6.
    GenomeRNAii 2627.
    NextBioi 10349.
    PROi Q92908.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q92908.
    Bgeei Q92908.
    CleanExi HS_GATA6.
    Genevestigatori Q92908.

    Family and domain databases

    Gene3Di 3.30.50.10. 2 hits.
    InterProi IPR008013. GATA_N.
    IPR028437. TF_GATA_6.
    IPR000679. Znf_GATA.
    IPR013088. Znf_NHR/GATA.
    [Graphical view ]
    PANTHERi PTHR10071:SF23. PTHR10071:SF23. 1 hit.
    Pfami PF00320. GATA. 2 hits.
    PF05349. GATA-N. 1 hit.
    [Graphical view ]
    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. "The human GATA-6 gene: structure, chromosomal location, and regulation of expression by tissue-specific and mitogen-responsive signals."
      Suzuki E., Evans T., Lowry J., Truong L., Bell D.W., Testa J.R., Walsh K.
      Genomics 38:283-290(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    2. "Molecular cloning of human GATA-6 DNA binding protein: high levels of expression in heart and gut."
      Huggon I.C., Davies A., Gove C., Moscoso G., Moniz C., Foss Y., Farzaneh F., Towner P.
      Biochim. Biophys. Acta 1353:98-102(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
      Tissue: Heart.
    3. "GATA-6 DNA binding protein expressed in human gastric adenocarcinoma MKN45 cells."
      Yoshida T., Sato R., Mahmood S., Kawasaki S., Futai M., Maeda M.
      FEBS Lett. 414:333-337(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    4. NHLBI resequencing and genotyping service (RS&G)
      Submitted (DEC-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The human and mouse GATA-6 genes utilize two promoters and two initiation codons."
      Brewer A., Gove C., Davies A., McNulty C., Barrow D., Koutsourakis M., Farzaneh F., Pizzey J., Bomford A., Patient R.
      J. Biol. Chem. 274:38004-38016(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: ALTERNATIVE INITIATION.
    8. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-268, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    9. "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].
    10. "GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling."
      Kodo K., Nishizawa T., Furutani M., Arai S., Yamamura E., Joo K., Takahashi T., Matsuoka R., Yamagishi H.
      Proc. Natl. Acad. Sci. U.S.A. 106:13933-13938(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANT CTHM HIS-466, VARIANT ARG-15, CHARACTERIZATION OF VARIANT CTHM HIS-466.
    11. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    12. "A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect."
      Lin X., Huo Z., Liu X., Zhang Y., Li L., Zhao H., Yan B., Liu Y., Yang Y., Chen Y.H.
      J. Hum. Genet. 55:662-667(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ASD9 ASN-184, VARIANT TOF ASN-184, CHARACTERIZATION OF VARIANT ASD9 ASN-184, VARIANT ARG-15.
    13. "Identification of GATA6 sequence variants in patients with congenital heart defects."
      Maitra M., Koenig S.N., Srivastava D., Garg V.
      Pediatr. Res. 68:281-285(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ARG-15, VARIANT AVSD5 VAL-178, VARIANT TOF VAL-198, CHARACTERIZATION OF VARIANT AVSD5 VAL-178, CHARACTERIZATION OF VARIANT TOF VAL-198.
    14. Cited for: VARIANTS PACHD ALA-452; CYS-456; HIS-456; ASP-466; THR-467 AND GLN-473, CHARACTERIZATION OF VARIANTS PACHD CYS-456; ASP-466; THR-467 AND GLN-473.

    Entry informationi

    Entry nameiGATA6_HUMAN
    AccessioniPrimary (citable) accession number: Q92908
    Secondary accession number(s): B0YJ17, P78327
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: November 25, 2008
    Last modified: October 1, 2014
    This is version 125 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 18
      Human chromosome 18: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3